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What is (are) white sponge nevus ? | White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells. White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals. | white sponge nevus |
How many people are affected by white sponge nevus ? | The exact prevalence of white sponge nevus is unknown, but it is estimated to affect less than 1 in 200,000 individuals worldwide. | white sponge nevus |
What are the genetic changes related to white sponge nevus ? | Mutations in the KRT4 or KRT13 gene cause white sponge nevus. These genes provide instructions for making proteins called keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of epithelial cells, which are cells that line the surfaces and cavities of the body and make up the different mucosae. The keratin 4 protein (produced from the KRT4 gene) and the keratin 13 protein (produced from the KRT13 gene) partner together to form molecules known as intermediate filaments. These filaments assemble into networks that provide strength and resilience to the different mucosae. Networks of intermediate filaments protect the mucosae from being damaged by friction or other everyday physical stresses. Mutations in the KRT4 or KRT13 gene disrupt the structure of the keratin protein. As a result, keratin 4 and keratin 13 are mismatched and do not fit together properly, leading to the formation of irregular intermediate filaments that are easily damaged with little friction or trauma. Fragile intermediate filaments in the oral mucosa might be damaged when eating or brushing one's teeth. Damage to intermediate filaments leads to inflammation and promotes the abnormal growth and division (proliferation) of epithelial cells, causing the mucosae to thicken and resulting in white sponge nevus. | white sponge nevus |
Is white sponge nevus inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell can be sufficient to cause the disorder. However, some people who have a mutation that causes white sponge nevus do not develop these abnormal growths; this phenomenon is called reduced penetrance. | white sponge nevus |
What are the treatments for white sponge nevus ? | These resources address the diagnosis or management of white sponge nevus: - Genetic Testing Registry: White sponge nevus of cannon These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | white sponge nevus |
What is (are) nonbullous congenital ichthyosiform erythroderma ? | Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Individuals with NBCIE have skin that is red (erythema) and covered with fine white scales. Some people with NBCIE have outward turning eyelids and lips, a thickening of the skin on the palms and soles of the feet (keratoderma), and nails that do not grow normally (nail dystrophy). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life. | nonbullous congenital ichthyosiform erythroderma |
How many people are affected by nonbullous congenital ichthyosiform erythroderma ? | NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected. | nonbullous congenital ichthyosiform erythroderma |
What are the genetic changes related to nonbullous congenital ichthyosiform erythroderma ? | Mutations in at least three genes can cause NBCIE. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The epidermis forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with NBCIE disrupt this protective barrier, making it more difficult for affected infants to control water loss, regulate body temperature, and fight infections. Mutations in the ALOX12B and ALOXE3 genes are responsible for the majority of cases of NBCIE. Mutations in one other gene associated with this condition are found in only a small percentage of cases. In some people with NBCIE, the cause of the disorder is unknown. Researchers are looking for additional genes that are associated with NBCIE. | nonbullous congenital ichthyosiform erythroderma |
Is nonbullous congenital ichthyosiform erythroderma inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | nonbullous congenital ichthyosiform erythroderma |
What are the treatments for nonbullous congenital ichthyosiform erythroderma ? | These resources address the diagnosis or management of nonbullous congenital ichthyosiform erythroderma: - Foundation for Ichthyosis and Related Skin Types (FIRST): Treatments - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | nonbullous congenital ichthyosiform erythroderma |
What is (are) 2q37 deletion syndrome ? | 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of people with this condition have autism, a developmental condition that affects communication and social interaction. The characteristic facial features associated with 2q37 deletion syndrome include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features of this condition can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals have malformations of the brain, gastrointestinal system, kidneys, or genitalia. | 2q37 deletion syndrome |
How many people are affected by 2q37 deletion syndrome ? | 2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. Approximately 100 cases have been reported worldwide. | 2q37 deletion syndrome |
What are the genetic changes related to 2q37 deletion syndrome ? | 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probably related to the loss of multiple genes in this region. | 2q37 deletion syndrome |
Is 2q37 deletion syndrome inherited ? | Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder. | 2q37 deletion syndrome |
What are the treatments for 2q37 deletion syndrome ? | These resources address the diagnosis or management of 2q37 deletion syndrome: - Gene Review: Gene Review: 2q37 Microdeletion Syndrome - Genetic Testing Registry: Brachydactyly-Mental Retardation syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | 2q37 deletion syndrome |
What is (are) SYNGAP1-related intellectual disability ? | SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have an autism spectrum disorder. | SYNGAP1-related intellectual disability |
How many people are affected by SYNGAP1-related intellectual disability ? | SYNGAP1-related intellectual disability is a relatively common form of cognitive impairment. It is estimated to account for 1 to 2 percent of intellectual disability cases. | SYNGAP1-related intellectual disability |
What are the genetic changes related to SYNGAP1-related intellectual disability ? | SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene. The protein produced from this gene, called SynGAP, plays an important role in nerve cells in the brain. It is found at the junctions between nerve cells (synapses) and helps regulate changes in synapses that are critical for learning and memory. Mutations involved in this condition prevent the production of functional SynGAP protein from one copy of the gene, reducing the protein's activity in cells. Studies show that a reduction of SynGAP activity can have multiple effects in nerve cells, including pushing synapses to develop too early. The resulting abnormalities disrupt the synaptic changes in the brain that underlie learning and memory, leading to cognitive impairment and other neurological problems characteristic of SYNGAP1-related intellectual disability. | SYNGAP1-related intellectual disability |
Is SYNGAP1-related intellectual disability inherited ? | SYNGAP1-related intellectual disability is classified as an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In at least one case, an affected person inherited the mutation from one affected parent. | SYNGAP1-related intellectual disability |
What are the treatments for SYNGAP1-related intellectual disability ? | These resources address the diagnosis or management of SYNGAP1-related intellectual disability: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities? - Genetic Testing Registry: Mental retardation, autosomal dominant 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | SYNGAP1-related intellectual disability |
What is (are) X-linked dystonia-parkinsonism ? | X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. This condition affects men much more often than women. Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. Parkinsonism is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling gait that can cause recurrent falls. Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, and later spreads to other parts of the body. The continuous muscle cramping and spasms can be disabling. Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking. The signs and symptoms of X-linked dystonia-parkinsonism vary widely. In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia. More severe cases involve dystonia that rapidly becomes generalized. These individuals become dependent on others for care within a few years after signs and symptoms appear, and they may die prematurely from breathing difficulties, infections (such as aspiration pneumonia), or other complications. | X-linked dystonia-parkinsonism |
How many people are affected by X-linked dystonia-parkinsonism ? | X-linked dystonia-parkinsonism has been reported in more than 500 people of Filipino descent, although it is likely that many more Filipinos are affected. Most people with this condition can trace their mother's ancestry to the island of Panay in the Philippines. The prevalence of the disorder is 5.24 per 100,000 people on the island of Panay. | X-linked dystonia-parkinsonism |
What are the genetic changes related to X-linked dystonia-parkinsonism ? | Mutations in and near the TAF1 gene can cause X-linked dystonia-parkinsonism. The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). This protein is active in cells and tissues throughout the body, where it plays an essential role in regulating the activity of most genes. The TAF1 gene is part of a complex region of DNA known as the TAF1/DYT3 multiple transcript system. This region consists of short stretches of DNA from the TAF1 gene plus some extra segments of genetic material near the gene. These stretches of DNA can be combined in different ways to create various sets of instructions for making proteins. Researchers believe that some of these variations are critical for the normal function of nerve cells (neurons) in the brain. Several changes in the TAF1/DYT3 multiple transcript system have been identified in people with X-linked dystonia-parkinsonism. Scientists are uncertain how these changes are related to the movement abnormalities characteristic of this disease. However, they suspect that the changes disrupt the regulation of critical genes in neurons. This defect leads to the eventual death of these cells, particularly in areas of the brain called the caudate nucleus and putamen. These regions are critical for normal movement, learning, and memory. It is unclear why the effects of changes in the TAF1/DYT3 multiple transcript system appear to be limited to dystonia and parkinsonism. | X-linked dystonia-parkinsonism |
Is X-linked dystonia-parkinsonism inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation typically must occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, females with one altered copy of the gene in each cell are called carriers. They can pass on the gene to their children, but they usually do not experience signs and symptoms of the disorder. However, a few females carrying one altered copy of the TAF1 gene have developed movement abnormalities associated with X-linked dystonia-parkinsonism. These movement problems tend to be milder than those seen in affected men, and they are usually not progressive or disabling. | X-linked dystonia-parkinsonism |
What are the treatments for X-linked dystonia-parkinsonism ? | These resources address the diagnosis or management of X-linked dystonia-parkinsonism: - Gene Review: Gene Review: X-Linked Dystonia-Parkinsonism Syndrome - Genetic Testing Registry: Dystonia 3, torsion, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | X-linked dystonia-parkinsonism |
What is (are) Frasier syndrome ? | Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence. Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life. Affected females usually have normal genitalia and gonads and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome. | Frasier syndrome |
How many people are affected by Frasier syndrome ? | Frasier syndrome is thought to be a rare condition; approximately 50 cases have been described in the scientific literature. | Frasier syndrome |
What are the genetic changes related to Frasier syndrome ? | Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations that cause Frasier syndrome lead to the production of a protein with an impaired ability to control gene activity and regulate the development of the kidneys and reproductive organs, resulting in the signs and symptoms of Frasier syndrome. Frasier syndrome has features similar to another condition called Denys-Drash syndrome, which is also caused by mutations in the WT1 gene. Because these two conditions share a genetic cause and have overlapping features, some researchers have suggested that they are part of a spectrum and not two distinct conditions. | Frasier syndrome |
Is Frasier syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | Frasier syndrome |
What are the treatments for Frasier syndrome ? | These resources address the diagnosis or management of Frasier syndrome: - Genetic Testing Registry: Frasier syndrome - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | Frasier syndrome |
What is (are) 3-methylcrotonyl-CoA carboxylase deficiency ? | 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine. Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Many of these complications can be prevented with early detection and lifelong management with a low-protein diet and appropriate supplements. Some people with gene mutations that cause 3-MCC deficiency never experience any signs or symptoms of the condition. The characteristic features of 3-MCC deficiency are similar to those of Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections. | 3-methylcrotonyl-CoA carboxylase deficiency |
How many people are affected by 3-methylcrotonyl-CoA carboxylase deficiency ? | This condition is detected in an estimated 1 in 36,000 newborns worldwide. | 3-methylcrotonyl-CoA carboxylase deficiency |
What are the genetic changes related to 3-methylcrotonyl-CoA carboxylase deficiency ? | Mutations in the MCCC1 or MCCC2 gene can cause 3-MCC deficiency. These two genes provide instructions for making different parts (subunits) of an enzyme called 3-methylcrotonyl-coenzyme A carboxylase (3-MCC). This enzyme plays a critical role in breaking down proteins obtained from the diet. Specifically, 3-MCC is responsible for the fourth step in processing leucine, an amino acid that is part of many proteins. Mutations in the MCCC1 or MCCC2 gene reduce or eliminate the activity of 3-MCC, preventing the body from processing leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, which can damage the brain. This damage underlies the signs and symptoms of 3-MCC deficiency. | 3-methylcrotonyl-CoA carboxylase deficiency |
Is 3-methylcrotonyl-CoA carboxylase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | 3-methylcrotonyl-CoA carboxylase deficiency |
What are the treatments for 3-methylcrotonyl-CoA carboxylase deficiency ? | These resources address the diagnosis or management of 3-MCC deficiency: - Baby's First Test - Genetic Testing Registry: 3 Methylcrotonyl-CoA carboxylase 1 deficiency - Genetic Testing Registry: 3-methylcrotonyl CoA carboxylase 2 deficiency - Genetic Testing Registry: Methylcrotonyl-CoA carboxylase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | 3-methylcrotonyl-CoA carboxylase deficiency |
What is (are) Hashimoto thyroiditis ? | Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto thyroiditis is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones. One of the first signs of Hashimoto thyroiditis is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear. Other signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with this condition may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones. Hashimoto thyroiditis usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years. | Hashimoto thyroiditis |
How many people are affected by Hashimoto thyroiditis ? | Hashimoto thyroiditis affects 1 to 2 percent of people in the United States. It occurs more often in women than in men, which may be related to hormonal factors. The condition is the most common cause of thyroid underactivity (hypothyroidism) in the United States. | Hashimoto thyroiditis |
What are the genetic changes related to Hashimoto thyroiditis ? | Hashimoto thyroiditis is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Hashimoto thyroiditis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with Hashimoto thyroiditis, white blood cells called lymphocytes accumulate abnormally in the thyroid, which can damage it. The lymphocytes make immune system proteins called antibodies that attack and destroy thyroid cells. When too many thyroid cells become damaged or die, the thyroid can no longer make enough hormones to regulate body functions. This shortage of thyroid hormones underlies the signs and symptoms of Hashimoto thyroiditis. However, some people with thyroid antibodies never develop hypothyroidism or experience any related signs or symptoms. People with Hashimoto thyroiditis have an increased risk of developing other autoimmune disorders, including vitiligo, rheumatoid arthritis, Addison disease, type 1 diabetes, multiple sclerosis, and pernicious anemia. Variations in several genes have been studied as possible risk factors for Hashimoto thyroiditis. Some of these genes are part of a family called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Other genes that have been associated with Hashimoto thyroiditis help regulate the immune system or are involved in normal thyroid function. Most of the genetic variations that have been discovered are thought to have a small impact on a person's overall risk of developing this condition. Other, nongenetic factors also play a role in Hashimoto thyroiditis. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), viral infections, certain medications, exposure to ionizing radiation, and excess consumption of iodine (a substance involved in thyroid hormone production). | Hashimoto thyroiditis |
Is Hashimoto thyroiditis inherited ? | The inheritance pattern of Hashimoto thyroiditis is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto thyroiditis or another autoimmune disorder likely increases a person's risk of developing the condition. | Hashimoto thyroiditis |
What are the treatments for Hashimoto thyroiditis ? | These resources address the diagnosis or management of Hashimoto thyroiditis: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Hashimoto thyroiditis - National Institute of Diabetes and Digestive and Kidney Diseases: Thyroid Function Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | Hashimoto thyroiditis |
What is (are) cutis laxa ? | Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical arteries. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia). Pouches called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening. Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant form. In addition to the features described above, some people with autosomal recessive cutis laxa have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time. The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints. | cutis laxa |
How many people are affected by cutis laxa ? | Cutis laxa is a rare disorder. About 200 affected families worldwide have been reported. | cutis laxa |
What are the genetic changes related to cutis laxa ? | Cutis laxa can be caused by mutations in the ATP6V0A2, ATP7A, EFEMP2, ELN, or FBLN5 gene. Most of these genes are involved in the formation and function of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue throughout the body. Elastic fibers allow the skin to stretch, the lungs to expand and contract, and arteries to handle blood flowing through them at high pressure. The major component of elastic fibers, a protein called elastin, is produced from the ELN gene. Other proteins that appear to have critical roles in the assembly of elastic fibers are produced from the EFEMP2, FBLN5, and ATP6V0A2 genes. Mutations in any of these genes disrupt the formation, assembly, or function of elastic fibers. A shortage of these fibers weakens connective tissue in the skin, arteries, lungs, and other organs. These defects in connective tissue underlie the major features of cutis laxa. Occipital horn syndrome is caused by mutations in the ATP7A gene. This gene provides instructions for making a protein that is important for regulating copper levels in the body. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. A reduced supply of copper can decrease the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes. Mutations in the genes described above account for only a small percentage of all cases of cutis laxa. Researchers suspect that mutations in other genes, which have not been identified, can also be responsible for the condition. Rare cases of cutis laxa are acquired, which means they are probably not caused by inherited gene mutations. Acquired cutis laxa appears later in life and is related to the destruction of normal elastic fibers. The causes of acquired cutis laxa are unclear, although it may occur as a side effect of treatment with medications that remove copper from the body (copper chelating drugs). | cutis laxa |
Is cutis laxa inherited ? | Cutis laxa can have an autosomal dominant, autosomal recessive, or X-linked recessive pattern of inheritance. When cutis laxa is caused by ELN mutations, it has an autosomal dominant inheritance pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, cases of cutis laxa resulting from FBLN5 mutations can also have an autosomal dominant pattern of inheritance. Researchers have described at least two forms of autosomal recessive cutis laxa. Type I results from mutations in the EFEMP2 or FBLN5 gene, while type II is caused by mutations in the ATP6V02 gene. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Occipital horn syndrome has an X-linked recessive pattern of inheritance. It results from mutations in the ATP7A gene, which is located on the X chromosome. The X chromosome is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. | cutis laxa |
What are the treatments for cutis laxa ? | These resources address the diagnosis or management of cutis laxa: - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa - Gene Review: Gene Review: FBLN5-Related Cutis Laxa - Genetic Testing Registry: Autosomal recessive cutis laxa type IA - Genetic Testing Registry: Cutis laxa with osteodystrophy - Genetic Testing Registry: Cutis laxa, X-linked - Genetic Testing Registry: Cutis laxa, autosomal dominant - MedlinePlus Encyclopedia: Colon Diverticula (image) - MedlinePlus Encyclopedia: Emphysema (image) - MedlinePlus Encyclopedia: Hernia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | cutis laxa |
What is (are) oculocutaneous albinism ? | Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2. Several additional types of this disorder have been proposed, each affecting one or a few families. | oculocutaneous albinism |
How many people are affected by oculocutaneous albinism ? | Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. The condition affects people in many ethnic groups and geographical regions. Types 1 and 2 are the most common forms of this condition; types 3 and 4 are less common. Type 2 occurs more frequently in African Americans, some Native American groups, and people from sub-Saharan Africa. Type 3, specifically rufous oculocutaneous albinism, has been described primarily in people from southern Africa. Studies suggest that type 4 occurs more frequently in the Japanese and Korean populations than in people from other parts of the world. | oculocutaneous albinism |
What are the genetic changes related to oculocutaneous albinism ? | Oculocutaneous albinism can result from mutations in several genes, including TYR, OCA2, TYRP1, and SLC45A2. Changes in the TYR gene cause type 1; mutations in the OCA2 gene are responsible for type 2; TYRP1 mutations cause type 3; and changes in the SLC45A2 gene result in type 4. Mutations in additional genes likely underlie the other forms of this disorder. The genes associated with oculocutaneous albinism are involved in producing a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. In the retina, melanin also plays a role in normal vision. Mutations in any of these genes disrupt the ability of cells to make melanin, which reduces pigmentation in the skin, hair, and eyes. A lack of melanin in the retina leads to the vision problems characteristic of oculocutaneous albinism. Alterations in the MC1R gene can change the appearance of people with oculocutaneous albinism type 2. This gene helps regulate melanin production and is responsible for some normal variation in pigmentation. People with genetic changes in both the OCA2 and MC1R genes have many of the usual features of oculocutaneous albinism type 2, including light-colored eyes and vision problems; however, they typically have red hair instead of the usual yellow, blond, or light brown hair seen with this condition. Some individuals with oculocutaneous albinism do not have mutations in any of the known genes. In these people, the genetic cause of the condition is unknown. | oculocutaneous albinism |
Is oculocutaneous albinism inherited ? | Oculocutaneous albinism is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition. | oculocutaneous albinism |
What are the treatments for oculocutaneous albinism ? | These resources address the diagnosis or management of oculocutaneous albinism: - Gene Review: Gene Review: Oculocutaneous Albinism Type 1 - Gene Review: Gene Review: Oculocutaneous Albinism Type 2 - Gene Review: Gene Review: Oculocutaneous Albinism Type 4 - Genetic Testing Registry: Oculocutaneous albinism - MedlinePlus Encyclopedia: Albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | oculocutaneous albinism |
What is (are) Saethre-Chotzen syndrome ? | Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, a high forehead, a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side of the face may appear noticeably different from the other (facial asymmetry). Most people with Saethre-Chotzen syndrome also have small, unusually shaped ears. The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. This condition can cause mild abnormalities of the hands and feet, such as fusion of the skin between the second and third fingers on each hand and a broad or duplicated first (big) toe. Delayed development and learning difficulties have been reported, although most people with this condition are of normal intelligence. Less common signs and symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the bones of the spine (the vertebra), hearing loss, and heart defects. Robinow-Sorauf syndrome is a condition with features similar to those of Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated great toes. It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a mild variant of Saethre-Chotzen syndrome. | Saethre-Chotzen syndrome |
How many people are affected by Saethre-Chotzen syndrome ? | Saethre-Chotzen syndrome has an estimated prevalence of 1 in 25,000 to 50,000 people. | Saethre-Chotzen syndrome |
What are the genetic changes related to Saethre-Chotzen syndrome ? | Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. The TWIST1 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The TWIST1 protein is active in cells that give rise to bones, muscles, and other tissues in the head and face. It is also involved in the development of the limbs. Mutations in the TWIST1 gene prevent one copy of the gene in each cell from making any functional protein. A shortage of the TWIST1 protein affects the development and maturation of cells in the skull, face, and limbs. These abnormalities underlie the signs and symptoms of Saethre-Chotzen syndrome, including the premature fusion of certain skull bones. A small number of cases of Saethre-Chotzen syndrome have resulted from a structural chromosomal abnormality, such as a deletion or rearrangement of genetic material, in the region of chromosome 7 that contains the TWIST1 gene. When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have intellectual disability, developmental delay, and learning difficulties. These features are typically not seen in classic cases of Saethre-Chotzen syndrome. Researchers believe that a loss of other genes on chromosome 7 may be responsible for these additional features. | Saethre-Chotzen syndrome |
Is Saethre-Chotzen syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Some people with a TWIST1 mutation do not have any of the obvious features of Saethre-Chotzen syndrome. These people are still at risk of passing on the gene mutation and may have a child with craniosynostosis and the other typical signs and symptoms of the condition. | Saethre-Chotzen syndrome |
What are the treatments for Saethre-Chotzen syndrome ? | These resources address the diagnosis or management of Saethre-Chotzen syndrome: - Gene Review: Gene Review: Saethre-Chotzen Syndrome - Genetic Testing Registry: Robinow Sorauf syndrome - Genetic Testing Registry: Saethre-Chotzen syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Skull of a Newborn (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | Saethre-Chotzen syndrome |
What is (are) VLDLR-associated cerebellar hypoplasia ? | VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. Children with VLDLR-associated cerebellar hypoplasia may learn to walk later in childhood, usually after the age of 6, although some are never able to walk independently. In one Turkish family, affected people walk on their hands and feet (quadrupedal locomotion). Additional features of VLDLR-associated cerebellar hypoplasia include moderate to profound intellectual disability, impaired speech (dysarthria) or a lack of speech, and eyes that do not look in the same direction (strabismus). Some affected individuals have also had flat feet (pes planus), seizures, and short stature. Studies suggest that VLDLR-associated cerebellar hypoplasia does not significantly affect a person's life expectancy. | VLDLR-associated cerebellar hypoplasia |
How many people are affected by VLDLR-associated cerebellar hypoplasia ? | VLDLR-associated cerebellar hypoplasia is rare; its prevalence is unknown. The condition was first described in the Hutterite population in Canada and the United States. This condition has also been reported in families from Iran and Turkey. | VLDLR-associated cerebellar hypoplasia |
What are the genetic changes related to VLDLR-associated cerebellar hypoplasia ? | As its name suggests, VLDLR-associated cerebellar hypoplasia results from mutations in the VLDLR gene. This gene provides instructions for making a protein called a very low density lipoprotein (VLDL) receptor. Starting before birth, this protein plays a critical role in guiding the movement of developing nerve cells to their appropriate locations in the brain. Mutations in the VLDLR gene prevent cells from producing any functional VLDL receptor protein. Without this protein, developing nerve cells cannot reach the parts of the brain where they are needed. The resulting problems with brain development lead to ataxia and the other major features of this condition. | VLDLR-associated cerebellar hypoplasia |
Is VLDLR-associated cerebellar hypoplasia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | VLDLR-associated cerebellar hypoplasia |
What are the treatments for VLDLR-associated cerebellar hypoplasia ? | These resources address the diagnosis or management of VLDLR-associated cerebellar hypoplasia: - Gene Review: Gene Review: Hereditary Ataxia Overview - Gene Review: Gene Review: VLDLR-Associated Cerebellar Hypoplasia - Genetic Testing Registry: Dysequilibrium syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | VLDLR-associated cerebellar hypoplasia |
What is (are) cholesteryl ester storage disease ? | Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body. The liver is most severely affected. An enlarged liver (hepatomegaly) is one of the key signs of the disease. In addition, chronic liver disease (cirrhosis) can develop. An accumulation of fatty deposits on the artery walls (atherosclerosis) is usually seen early in life. The deposits narrow the arteries and can eventually block them, increasing the chance of having a heart attack or stroke. The symptoms of cholesteryl ester storage disease are highly variable. Some people have such mild symptoms that they go undiagnosed until late adulthood, while others can have liver dysfunction in early childhood. The expected lifespan of those with cholesteryl ester storage disease depends on the severity of the associated complications. | cholesteryl ester storage disease |
How many people are affected by cholesteryl ester storage disease ? | Cholesteryl ester storage disease appears to be a rare disorder. About 50 individuals affected by this condition have been reported worldwide. | cholesteryl ester storage disease |
What are the genetic changes related to cholesteryl ester storage disease ? | Mutations in the LIPA gene cause cholesteryl ester storage disease. The LIPA gene provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down lipids such as cholesteryl esters and triglycerides. In the body, cholesterol works with high-density lipoproteins (HDL), often referred to as "good cholesterol." High-density lipoproteins carry cholesterol from the body's tissues to the liver for removal. When the cholesterol is attached to a fatty acid it is a cholesteryl ester. Normally, cholesteryl esters are broken down by lysosomal acid lipase into cholesterol and a fatty acid. Then the cholesterol can be transported by HDL to the liver for removal. Mutations in the LIPA gene lead to a shortage of lysosomal acid lipase and prevent the body from using lipids properly. Without the activity of lysosomal acid lipase, the cholesteryl esters stay in the blood and tissues and are not able to be transported to the liver for excretion. The resulting buildup of triglycerides, cholesteryl esters, and other fats within the cells and tissues cause the signs and symptoms of cholesteryl ester storage disease. | cholesteryl ester storage disease |
Is cholesteryl ester storage disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | cholesteryl ester storage disease |
What are the treatments for cholesteryl ester storage disease ? | These resources address the diagnosis or management of cholesteryl ester storage disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency - MedlinePlus Encyclopedia: Atherosclerosis - MedlinePlus Encyclopedia: Cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | cholesteryl ester storage disease |
What is (are) nail-patella syndrome ? | Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape. Individuals with nail-patella syndrome also commonly have skeletal abnormalities involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing. Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure. | nail-patella syndrome |
How many people are affected by nail-patella syndrome ? | The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals. | nail-patella syndrome |
What are the genetic changes related to nail-patella syndrome ? | Mutations in the LMX1B gene cause nail-patella syndrome. The LMX1B gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. The LMX1B protein appears to be particularly important during early embryonic development of the limbs, kidneys, and eyes. Mutations in the LMX1B gene lead to the production of an abnormally short, nonfunctional protein or affect the protein's ability to bind to DNA. It is unclear how mutations in the LMX1B gene lead to the signs and symptoms of nail-patella syndrome. | nail-patella syndrome |
Is nail-patella syndrome inherited ? | Nail-patella syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the LMX1B gene. These cases occur in people with no history of the disorder in their family. | nail-patella syndrome |
What are the treatments for nail-patella syndrome ? | These resources address the diagnosis or management of nail-patella syndrome: - Gene Review: Gene Review: Nail-Patella Syndrome - Genetic Testing Registry: Nail-patella syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | nail-patella syndrome |
What is (are) primary macronodular adrenal hyperplasia ? | Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels. PMAH typically becomes evident in a person's forties or fifties. It is considered a form of Cushing syndrome, which is characterized by increased levels of cortisol resulting from one of many possible causes. These increased cortisol levels lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems. However, some people with PMAH do not experience these signs and symptoms and are said to have subclinical Cushing syndrome. | primary macronodular adrenal hyperplasia |
How many people are affected by primary macronodular adrenal hyperplasia ? | PMAH is a rare disorder. It is present in less than 1 percent of cases of endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by factors internal to the body rather than by external factors such as long-term use of certain medicines called corticosteroids. The prevalence of endogenous Cushing syndrome is about 1 in 26,000 people. | primary macronodular adrenal hyperplasia |
What are the genetic changes related to primary macronodular adrenal hyperplasia ? | In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. ARMC5 gene mutations are believed to impair the protein's tumor-suppressor function, which allows the overgrowth of certain cells. It is unclear why this overgrowth is limited to the formation of adrenal gland nodules in people with PMAH. PMAH can also be caused by mutations in the GNAS gene. This gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). The G protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of certain endocrine glands, including the adrenal glands. The GNAS gene mutations that cause PMAH are believed to result in an overactive G protein. Research suggests that the overactive G protein may increase levels of adenylate cyclase and result in the overproduction of another compound called cyclic AMP (cAMP). An excess of cAMP may trigger abnormal cell growth and lead to the adrenal nodules characteristic of PMAH. Mutations in other genes, some of which are unknown, can also cause PMAH. | primary macronodular adrenal hyperplasia |
Is primary macronodular adrenal hyperplasia inherited ? | People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. The inheritance is considered autosomal dominant because one copy of the mutated gene is sufficient to make an individual susceptible to PMAH. However, the condition develops only when affected individuals acquire another mutation in the other copy of the ARMC5 gene in certain cells of the adrenal glands. This second mutation is described as somatic. Instead of being passed from parent to child, somatic mutations are acquired during a person's lifetime and are present only in certain cells. Because somatic mutations are also required for PMAH to occur, some people who have inherited the altered ARMC5 gene never develop the condition, a situation known as reduced penetrance. When PMAH is caused by GNAS gene mutations, the condition is not inherited. The GNAS gene mutations that cause PMAH are somatic mutations. In PMAH, the gene mutation is believed to occur early in embryonic development. Cells with the mutated GNAS gene can be found in both adrenal glands. | primary macronodular adrenal hyperplasia |
What are the treatments for primary macronodular adrenal hyperplasia ? | These resources address the diagnosis or management of PMAH: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Adrenal Gland Disorders? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What are the Treatments for Adrenal Gland Disorders? - Genetic Testing Registry: Acth-independent macronodular adrenal hyperplasia 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | primary macronodular adrenal hyperplasia |
What is (are) GM3 synthase deficiency ? | GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. GM3 synthase deficiency profoundly disrupts brain development. Most affected children have severe intellectual disability and do not develop skills such as reaching for objects, speaking, sitting without support, or walking. Some have involuntary twisting or jerking movements of the arms that are described as choreoathetoid. Although affected infants can likely see and hear at birth, vision and hearing become impaired as the disease worsens. It is unknown how long people with GM3 synthase deficiency usually survive. Some affected individuals have changes in skin coloring (pigmentation), including dark freckle-like spots on the arms and legs and light patches on the arms, legs, and face. These changes appear in childhood and may become more or less apparent over time. The skin changes do not cause any symptoms, but they can help doctors diagnose GM3 synthase deficiency in children who also have seizures and delayed development. | GM3 synthase deficiency |
How many people are affected by GM3 synthase deficiency ? | GM3 synthase deficiency appears to be a rare condition. About 50 cases have been reported, mostly from Old Order Amish communities. | GM3 synthase deficiency |
What are the genetic changes related to GM3 synthase deficiency ? | Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for making an enzyme called GM3 synthase, which carries out a chemical reaction that is the first step in the production of molecules called gangliosides. These molecules are present in cells and tissues throughout the body, and they are particularly abundant in the nervous system. Although their exact functions are unclear, gangliosides appear to be important for normal brain development and function. ST3GAL5 gene mutations prevent the production of any functional GM3 synthase. Without this enzyme, cells cannot produce gangliosides normally. It is unclear how a loss of this enzyme leads to the signs and symptoms of GM3 synthase deficiency. Researchers are working to determine whether it is the lack of gangliosides or a buildup of compounds used to make gangliosides, or both, that underlies the seizures and other problems with brain development that occur in this condition. The connection between a shortage of GM3 synthase and changes in skin pigmentation is also unknown. | GM3 synthase deficiency |
Is GM3 synthase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | GM3 synthase deficiency |
What are the treatments for GM3 synthase deficiency ? | These resources address the diagnosis or management of GM3 synthase deficiency: - American Epilepsy Society: Find a Doctor - Clinic for Special Children (Strasburg, Pennsylvania) - Genetic Testing Registry: Amish infantile epilepsy syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | GM3 synthase deficiency |
What is (are) combined pituitary hormone deficiency ? | Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood. People with combined pituitary hormone deficiency may have hypothyroidism, which is underactivity of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other features of combined pituitary hormone deficiency include delayed or absent puberty and lack the ability to have biological children (infertility). The condition can also be associated with a deficiency of the hormone cortisol. Cortisol deficiency can impair the body's immune system, causing individuals to be more susceptible to infection. Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, which carry visual information from the eyes to the brain. | combined pituitary hormone deficiency |
How many people are affected by combined pituitary hormone deficiency ? | The prevalence of combined pituitary hormone deficiency is estimated to be 1 in 8,000 individuals worldwide. | combined pituitary hormone deficiency |
What are the genetic changes related to combined pituitary hormone deficiency ? | Mutations in at least eight genes have been found to cause combined pituitary hormone deficiency. Mutations in the PROP1 gene are the most common known cause of this disorder, accounting for an estimated 12 to 55 percent of cases. Mutations in other genes have each been identified in a smaller number of affected individuals. The genes associated with combined pituitary hormone deficiency provide instructions for making proteins called transcription factors, which help control the activity of many other genes. The proteins are involved in the development of the pituitary gland and the specialization (differentiation) of its cell types. The cells of the pituitary gland are responsible for triggering the release of several hormones that direct the development of many parts of the body. Some of the transcription factors are found only in the pituitary gland, and some are also active in other parts of the body. Mutations in the genes associated with combined pituitary hormone deficiency can result in abnormal differentiation of pituitary gland cells and may prevent the production of several hormones. These hormones can include growth hormone (GH), which is needed for normal growth; follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which both play a role in sexual development and the ability to have children (fertility); thyroid-stimulating hormone (TSH), which helps with thyroid gland function; prolactin, which stimulates the production of breast milk; and adrenocorticotropic hormone (ACTH), which influences energy production in the body and maintains normal blood sugar and blood pressure levels. The degree to which these hormones are deficient is variable, with prolactin and ACTH showing the most variability. In many affected individuals, ACTH deficiency does not occur until late adulthood. Most people with combined pituitary hormone deficiency do not have identified mutations in any of the genes known to be associated with this condition. The cause of the disorder in these individuals is unknown. | combined pituitary hormone deficiency |
Is combined pituitary hormone deficiency inherited ? | Most cases of combined pituitary hormone deficiency are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition. Most cases of familial combined pituitary hormone deficiency are inherited in an autosomal recessive pattern. | combined pituitary hormone deficiency |
What are the treatments for combined pituitary hormone deficiency ? | These resources address the diagnosis or management of combined pituitary hormone deficiency: - Gene Review: Gene Review: PROP1-Related Combined Pituitary Hormone Deficiency - Genetic Testing Registry: Pituitary hormone deficiency, combined - Genetic Testing Registry: Pituitary hormone deficiency, combined 1 - Genetic Testing Registry: Pituitary hormone deficiency, combined 2 - Genetic Testing Registry: Pituitary hormone deficiency, combined 3 - Genetic Testing Registry: Pituitary hormone deficiency, combined 4 - Genetic Testing Registry: Pituitary hormone deficiency, combined 5 - Genetic Testing Registry: Pituitary hormone deficiency, combined 6 - Great Ormond Street Hospital for Children (UK): Growth Hormone Deficiency - MedlinePlus Encyclopedia: ACTH - MedlinePlus Encyclopedia: FSH - MedlinePlus Encyclopedia: Growth Hormone Deficiency - MedlinePlus Encyclopedia: Prolactin - MedlinePlus Encyclopedia: TSH Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | combined pituitary hormone deficiency |
What is (are) Timothy syndrome ? | Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause irregular heartbeats (arrhythmia), which can lead to sudden death. Many people with Timothy syndrome are also born with structural heart defects that affect the heart's ability to pump blood effectively. As a result of these serious heart problems, many people with Timothy syndrome live only into childhood. The most common cause of death is a form of arrhythmia called ventricular tachyarrhythmia, in which the lower chambers of the heart (the ventricles) beat abnormally fast and lead to cardiac arrest. Timothy syndrome is also characterized by webbing or fusion of the skin between some fingers or toes (cutaneous syndactyly). About half of affected people have distinctive facial features such as a flattened nasal bridge, low-set ears, a small upper jaw, and a thin upper lip. Children with this condition have small, misplaced teeth and frequent cavities (dental caries). Additional signs and symptoms of Timothy syndrome can include baldness at birth, frequent infections, episodes of low blood sugar (hypoglycemia), and an abnormally low body temperature (hypothermia). Researchers have found that many children with Timothy syndrome have the characteristic features of autism or similar conditions known as autistic spectrum disorders. Affected children tend to have impaired communication and socialization skills, as well as delayed development of speech and language. Other nervous system abnormalities, including intellectual disability and seizures, can also occur in children with Timothy syndrome. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. | Timothy syndrome |
How many people are affected by Timothy syndrome ? | Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears to be more common than the atypical type, which has been identified in only two individuals. | Timothy syndrome |
What are the genetic changes related to Timothy syndrome ? | Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein that acts as a channel across cell membranes. This channel, known as CaV1.2, is one of several channels that transport positively charged calcium atoms (calcium ions) into cells. Calcium ions are involved in many different cellular functions, including cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes. CaV1.2 calcium channels are particularly important for the normal function of heart and brain cells. In cardiac muscle, these channels play a critical role in maintaining the heart's normal rhythm. Their role in the brain and in other tissues is less clear. Mutations in the CACNA1C gene change the structure of CaV1.2 channels. The altered channels stay open much longer than usual, which allows calcium ions to continue flowing into cells abnormally. The resulting overload of calcium ions within cardiac muscle cells changes the way the heart beats and can cause arrhythmia. Researchers are working to determine how an increase in calcium ion transport in other tissues, including cells in the brain, underlies the other features of Timothy syndrome. | Timothy syndrome |
Is Timothy syndrome inherited ? | This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered CACNA1C gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene, and occur in people with no history of the disorder in their family. Less commonly, people with Timothy syndrome inherit the altered gene from an unaffected parent who is mosaic for a CACNA1C mutation. Mosaicism means that the parent has the mutation in some cells (including egg or sperm cells), but not in others. | Timothy syndrome |
What are the treatments for Timothy syndrome ? | These resources address the diagnosis or management of Timothy syndrome: - Gene Review: Gene Review: Timothy Syndrome - Genetic Testing Registry: Timothy syndrome - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | Timothy syndrome |
What is (are) African iron overload ? | African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron levels in the body are primarily regulated through control of how much iron is absorbed from the diet. African iron overload results from a diet high in iron. It is particularly associated with consumption of a traditional African beer that contains dissolved iron from the metal drums in which it is brewed. Some evidence suggests that a genetic predisposition to absorbing too much iron may also be involved. In African iron overload, excess iron typically accumulates in liver cells (hepatocytes) and certain immune cells called reticuloendothelial cells. Reticuloendothelial cells include macrophages in the bone marrow and spleen and Kuppfer cells, which are specialized macrophages found in the liver. Kuppfer cells and other macrophages help protect the body against foreign invaders such as viruses and bacteria. When too much iron is absorbed, the resulting iron overload can eventually damage tissues and organs. Iron overload in the liver may lead to chronic liver disease (cirrhosis) in people with African iron overload. Cirrhosis increases the risk for developing a type of liver cancer called hepatocellular carcinoma. Iron overload in immune cells may affect their ability to fight infections. African iron overload is associated with an increased risk of developing infections such as tuberculosis. People with African iron overload may have a slightly low number of red blood cells (mild anemia), possibly because the iron that accumulates in the liver, bone marrow, and spleen is less available for production of red blood cells. Affected individuals also have high levels of a protein called ferritin in their blood, which can be detected with a blood test. Ferritin stores and releases iron in cells, and cells produce more ferritin in response to excess amounts of iron. | African iron overload |
How many people are affected by African iron overload ? | African iron overload is common in rural areas of central and southern Africa; up to 10 percent of the population in these regions may be affected. Men seem to be affected more often than women, possibly due to some combination of differences in dietary iron consumption and gender differences in the processing of iron. The prevalence of increased iron stores in people of African descent in other parts of the world is unknown; however, these individuals may be at higher risk of developing mildly increased iron stores than are people of European background. | African iron overload |
What are the genetic changes related to African iron overload ? | African iron overload was first noted in rural central and southern African populations among people who drink a traditional beer brewed in uncoated steel drums that allow iron (a component of steel) to leach into the beer. However, not all individuals who drink the beer develop African iron overload, and not all individuals of African descent with iron overload drink the beer. Therefore, researchers are seeking genetic differences that affect the risk of developing this condition. Some studies have indicated that a variation in the SLC40A1 gene increases the risk of developing increased iron stores in people of African descent. This variation is found in 5 to 20 percent of people of African descent but is not generally found in other populations. The SLC40A1 gene provides instructions for making a protein called ferroportin. This protein is involved in the process of iron absorption in the body. Iron from the diet is absorbed through the walls of the small intestine. Ferroportin then transports iron from the small intestine into the bloodstream, and the iron is carried by the blood to the tissues and organs of the body. Ferroportin also transports iron out of reticuloendothelial cells in the liver, spleen, and bone marrow. The amount of iron absorbed by the body depends on the amount of iron stored and released from intestinal cells and macrophages. The SLC40A1 gene variation that some studies have associated with increased iron stores in people of African descent may affect the way ferroportin helps to regulate iron absorption in the body. However, researchers suggest that this variation is not associated with most cases of African iron overload. | African iron overload |
Is African iron overload inherited ? | African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this condition, but not the condition itself. Not all people with this condition have the variation in the gene, and not all people with the variation will develop the disorder. | African iron overload |
What are the treatments for African iron overload ? | These resources address the diagnosis or management of African iron overload: - Genetic Testing Registry: African nutritional hemochromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | African iron overload |
What is (are) hypochondrogenesis ? | Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly. The face appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in some cases, an opening in the roof of the mouth called a cleft palate. Individuals with hypochondrogenesis have an enlarged abdomen and may have a condition called hydrops fetalis in which excess fluid builds up in the body before birth. As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with hypochondrogenesis usually die at birth or shortly thereafter from respiratory failure. Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development. | hypochondrogenesis |
How many people are affected by hypochondrogenesis ? | Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 newborns. | hypochondrogenesis |
What are the genetic changes related to hypochondrogenesis ? | Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly. | hypochondrogenesis |
Is hypochondrogenesis inherited ? | Hypochondrogenesis is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is caused by new mutations in the COL2A1 gene and occurs in people with no history of the disorder in their family. This condition is not passed on to the next generation because affected individuals do not live long enough to have children. | hypochondrogenesis |
What are the treatments for hypochondrogenesis ? | These resources address the diagnosis or management of hypochondrogenesis: - Genetic Testing Registry: Hypochondrogenesis - MedlinePlus Encyclopedia: Achondrogenesis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | hypochondrogenesis |
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