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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). Affect... | 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 diff... | 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 - ... | 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 ... | 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 ... | 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... | 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 wi... | 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 probabl... | 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... | 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 conditi... | 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 h... | 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 a... | 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... | 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 ... | 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 s... | 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 peopl... | 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 gen... | 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 t... | 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... | 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 ... | 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 devel... | 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 o... | 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... | 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 resp... | 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 The... | 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, menst... | 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... | 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 condi... | 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 in... | 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 an... | 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 ... | 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.... | 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 Testin... | 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 ca... | 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... | 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 u... | 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 - Medl... | 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 ... | 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 ... | 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 wi... | 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: Sku... | 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 ... | 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 t... | 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 informa... | 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 (hepatome... | 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 trigl... | 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 managem... | 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... | 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... | 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... | 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 -... | 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 enlargeme... | 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 ... | 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 mutati... | 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... | 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 ... | 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 withi... | 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 thro... | 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... | 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 g... | 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 indivi... | 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 inher... | 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 - Gene... | 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. Th... | 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... | 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, peop... | 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 ... | 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 intest... | 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.... | 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 indiv... | 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... | 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 Rehabili... | 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 ... | 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. Cart... | 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 gener... | 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 Therap... | hypochondrogenesis |
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