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What is (are) isolated ectopia lentis ? | Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displa... | isolated ectopia lentis |
How many people are affected by isolated ectopia lentis ? | The prevalence of isolated ectopia lentis is unknown. In Denmark, an estimated 6.4 per 100,000 individuals have ectopia lentis, but a large proportion of these cases (about 75 percent) are syndromic. | isolated ectopia lentis |
What are the genetic changes related to isolated ectopia lentis ? | Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. These genes provide instructions for making proteins that are necessary for the formation of threadlike filaments called microfibrils. Microfibrils provide support to many tissues, including the lenses of the eyes, which are held in position by these... | isolated ectopia lentis |
Is isolated ectopia lentis inherited ? | When isolated ectopia lentis is caused by mutations in the FBN1 gene, it 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 result from new... | isolated ectopia lentis |
What are the treatments for isolated ectopia lentis ? | These resources address the diagnosis or management of isolated ectopia lentis: - Gene Review: Gene Review: ADAMTSL4-Related Eye Disorders - Genetic Testing Registry: Ectopia lentis, isolated autosomal recessive - Genetic Testing Registry: Ectopia lentis, isolated, autosomal dominant These resources from MedlinePl... | isolated ectopia lentis |
What is (are) Crigler-Najjar syndrome ? | Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts... | Crigler-Najjar syndrome |
How many people are affected by Crigler-Najjar syndrome ? | Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million newborns worldwide. | Crigler-Najjar syndrome |
What are the genetic changes related to Crigler-Najjar syndrome ? | Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. The bilirubin-UGT enzyme perform... | Crigler-Najjar syndrome |
Is Crigler-Najjar syndrome inherited ? | Crigler-Najjar syndrome is inherited in an autosomal recessive pattern, which means both copies of the UGT1A1 gene in each cell have mutations. A less severe condition called Gilbert syndrome can occur when one copy of the UGT1A1 gene has a mutation. | Crigler-Najjar syndrome |
What are the treatments for Crigler-Najjar syndrome ? | These resources address the diagnosis or management of Crigler-Najjar syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Genetic Testing Registry: Crigler Najjar syndrome, type 1 - Genetic Testing Registry: Crigler-Najjar syndrome - Genetic Testing Registry: Crigler-Najja... | Crigler-Najjar syndrome |
What is (are) Duane-radial ray syndrome ? | Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves t... | Duane-radial ray syndrome |
How many people are affected by Duane-radial ray syndrome ? | Duane-radial ray syndrome is a rare condition whose prevalence is unknown. Only a few affected families have been reported worldwide. | Duane-radial ray syndrome |
What are the genetic changes related to Duane-radial ray syndrome ? | Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part of a group of genes called the SALL family. SALL genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. The proteins produced from these genes act as transcription factors... | Duane-radial ray syndrome |
Is Duane-radial ray syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered SALL4 gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no his... | Duane-radial ray syndrome |
What are the treatments for Duane-radial ray syndrome ? | These resources address the diagnosis or management of Duane-radial ray syndrome: - Gene Review: Gene Review: SALL4-Related Disorders - Genetic Testing Registry: Duane-radial ray syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information about the diagnosis ... | Duane-radial ray syndrome |
What is (are) ornithine translocase deficiency ? | Ornithine translocase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine translocase defici... | ornithine translocase deficiency |
How many people are affected by ornithine translocase deficiency ? | Ornithine translocase deficiency is a very rare disorder. Fewer than 100 affected individuals have been reported worldwide. | ornithine translocase deficiency |
What are the genetic changes related to ornithine translocase deficiency ? | Mutations in the SLC25A15 gene cause ornithine translocase deficiency. Ornithine translocase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the b... | ornithine translocase deficiency |
Is ornithine translocase 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. | ornithine translocase deficiency |
What are the treatments for ornithine translocase deficiency ? | These resources address the diagnosis or management of ornithine translocase deficiency: - Baby's First Test - Gene Review: Gene Review: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperornithinemia-hyperammonemia-... | ornithine translocase deficiency |
What is (are) Klippel-Trenaunay syndrome ? | Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. Most people with Klippel-Trenaunay syndrome ... | Klippel-Trenaunay syndrome |
How many people are affected by Klippel-Trenaunay syndrome ? | Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide. | Klippel-Trenaunay syndrome |
What are the genetic changes related to Klippel-Trenaunay syndrome ? | The cause of Klippel-Trenaunay syndrome is unknown. Researchers suspect that the condition may result from changes in one or more genes that regulate the growth of blood vessels during embryonic development. However, no associated genes have been identified. It is also unclear how blood vessel malformations are related... | Klippel-Trenaunay syndrome |
Is Klippel-Trenaunay syndrome inherited ? | Klippel-Trenaunay syndrome is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. Studies suggest that the condition may result from gene mutations that are not inherited. These genetic changes, which are called somatic mutations, probably occur very early in de... | Klippel-Trenaunay syndrome |
What are the treatments for Klippel-Trenaunay syndrome ? | These resources address the diagnosis or management of Klippel-Trenaunay syndrome: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Klippel Trenaunay syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and mana... | Klippel-Trenaunay syndrome |
What is (are) Wilson disease ? | Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition ... | Wilson disease |
How many people are affected by Wilson disease ? | Wilson disease is a rare disorder that affects approximately 1 in 30,000 individuals. | Wilson disease |
What are the genetic changes related to Wilson disease ? | Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in exc... | Wilson disease |
Is Wilson 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. | Wilson disease |
What are the treatments for Wilson disease ? | These resources address the diagnosis or management of Wilson disease: - Gene Review: Gene Review: Wilson Disease - Genetic Testing Registry: Wilson's disease - MedlinePlus Encyclopedia: Wilson's disease - National Human Genome Research Institute These resources from MedlinePlus offer information about the diagno... | Wilson disease |
What is (are) neurohypophyseal diabetes insipidus ? | Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to ... | neurohypophyseal diabetes insipidus |
How many people are affected by neurohypophyseal diabetes insipidus ? | Neurohypophyseal diabetes insipidus is thought to be rare, although its exact incidence is unknown. The acquired form occurs much more frequently than the familial form. | neurohypophyseal diabetes insipidus |
What are the genetic changes related to neurohypophyseal diabetes insipidus ? | The familial form of neurohypophyseal diabetes insipidus is caused by mutations in the AVP gene. This gene provides instructions for making a hormone called vasopressin or antidiuretic hormone (ADH). This hormone, which is produced and stored in the brain, helps control the body's water balance. The kidneys filter the... | neurohypophyseal diabetes insipidus |
Is neurohypophyseal diabetes insipidus inherited ? | Familial neurohypophyseal diabetes insipidus is almost always inherited in an autosomal dominant pattern, which means one copy of the altered AVP gene in each cell is sufficient to cause the disorder. In a few affected families, the condition has had an autosomal recessive pattern of inheritance. Autosomal recessive i... | neurohypophyseal diabetes insipidus |
What are the treatments for neurohypophyseal diabetes insipidus ? | These resources address the diagnosis or management of neurohypophyseal diabetes insipidus: - Genetic Testing Registry: Neurohypophyseal diabetes insipidus - MedlinePlus Encyclopedia: ADH - MedlinePlus Encyclopedia: Diabetes Insipidus - Central These resources from MedlinePlus offer information about the diagnosis... | neurohypophyseal diabetes insipidus |
What is (are) globozoospermia ? | Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane... | globozoospermia |
How many people are affected by globozoospermia ? | Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility. | globozoospermia |
What are the genetic changes related to globozoospermia ? | Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia. The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein ... | globozoospermia |
Is globozoospermia 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. | globozoospermia |
What are the treatments for globozoospermia ? | These resources address the diagnosis or management of globozoospermia: - Association for Reproductive Medicine: Semen Analysis - Centers for Disease Control: Assisted Reproductive Technology (ART) - Genetic Testing Registry: Globozoospermia - MedlinePlus Encyclopedia: Semen Analysis - MedlinePlus Health Topic: As... | globozoospermia |
What is (are) Meckel syndrome ? | Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra ... | Meckel syndrome |
How many people are affected by Meckel syndrome ? | Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is more common in certain populations; for example, the condition affects about 1 in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian ancestry. | Meckel syndrome |
What are the genetic changes related to Meckel syndrome ? | Meckel syndrome can be caused by mutations in one of at least eight genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that tran... | Meckel syndrome |
Is Meckel syndrome 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. | Meckel syndrome |
What are the treatments for Meckel syndrome ? | These resources address the diagnosis or management of Meckel syndrome: - Genetic Testing Registry: Meckel syndrome type 1 - Genetic Testing Registry: Meckel syndrome type 2 - Genetic Testing Registry: Meckel syndrome type 3 - Genetic Testing Registry: Meckel syndrome type 4 - Genetic Testing Registry: Meckel synd... | Meckel syndrome |
What is (are) juvenile polyposis syndrome ? | Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp,... | juvenile polyposis syndrome |
How many people are affected by juvenile polyposis syndrome ? | Juvenile polyposis syndrome occurs in approximately 1 in 100,000 individuals worldwide. | juvenile polyposis syndrome |
What are the genetic changes related to juvenile polyposis syndrome ? | Mutations in the BMPR1A and SMAD4 genes cause juvenile polyposis syndrome. These genes provide instructions for making proteins that are involved in transmitting chemical signals from the cell membrane to the nucleus. This type of signaling pathway allows the environment outside the cell to affect how the cell produces... | juvenile polyposis syndrome |
Is juvenile polyposis syndrome inherited ? | Juvenile polyposis 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 approximately 75 percent of cases, an affected person inherits the mutation from one affected parent. The remaining 25 percent of cases result from ne... | juvenile polyposis syndrome |
What are the treatments for juvenile polyposis syndrome ? | These resources address the diagnosis or management of juvenile polyposis syndrome: - Gene Review: Gene Review: Juvenile Polyposis Syndrome - Genetic Testing Registry: Juvenile polyposis syndrome - MedlinePlus Encyclopedia: Colorectal Polyps These resources from MedlinePlus offer information about the diagnosis an... | juvenile polyposis syndrome |
What is (are) Fraser syndrome ? | Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitali... | Fraser syndrome |
How many people are affected by Fraser syndrome ? | Fraser syndrome affects an estimated 1 in 200,000 newborns. The condition occurs in approximately 1 in 10,000 fetuses that do not survive to birth. | Fraser syndrome |
What are the genetic changes related to Fraser syndrome ? | Mutations in the FRAS1, FREM2, or GRIP1 gene can cause Fraser syndrome. FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome. FREM2 and GRIP1 gene mutations are each found in a small percentage of cases. The FRAS1 and FREM2 proteins (produced from the FRAS1 and FREM2 ge... | Fraser syndrome |
Is Fraser syndrome 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. | Fraser syndrome |
What are the treatments for Fraser syndrome ? | These resources address the diagnosis or management of Fraser syndrome: - Genetic Testing Registry: Cryptophthalmos syndrome - University of Arizona College of Medicine: Cryptophthalmos These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic ... | Fraser syndrome |
What is (are) bradyopsia ? | Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into ... | bradyopsia |
How many people are affected by bradyopsia ? | Bradyopsia appears to be rare. Only a few affected individuals worldwide have been described in the medical literature. | bradyopsia |
What are the genetic changes related to bradyopsia ? | Bradyopsia can be caused by mutations in the RGS9 gene or in the RGS9BP gene (which is also known as R9AP). These genes provide instructions for making proteins that are necessary for normal vision. The proteins are found in light-detecting cells in the eye called photoreceptors. When light enters the eye, it stimulate... | bradyopsia |
Is bradyopsia 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. | bradyopsia |
What are the treatments for bradyopsia ? | These resources address the diagnosis or management of bradyopsia: - Children's Hospital of Pittsburgh: Electroretinogram - Genetic Testing Registry: Prolonged electroretinal response suppression - MedlinePlus Encyclopedia: Electroretinography - Prevent Blindness: Living Well with Low Vision These resources from ... | bradyopsia |
What is (are) severe congenital neutropenia ? | Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutrop... | severe congenital neutropenia |
How many people are affected by severe congenital neutropenia ? | The incidence of severe congenital neutropenia is estimated to be 1 in 200,000 individuals. | severe congenital neutropenia |
What are the genetic changes related to severe congenital neutropenia ? | Severe congenital neutropenia can result from mutations in at least five different genes. These genes play a role in the maturation and function of neutrophils, which are cells produced by the bone marrow. Neutrophils secrete immune molecules and ingest and break down foreign invaders. Gene mutations that cause severe... | severe congenital neutropenia |
Is severe congenital neutropenia inherited ? | Most cases of severe congenital neutropenia are classified as sporadic and occur in people with no apparent history of the disorder in their family. Some of these cases are associated with changes in specific genes; however in some cases the cause of the disorder is unknown. Many cases of severe congenital neutropenia... | severe congenital neutropenia |
What are the treatments for severe congenital neutropenia ? | These resources address the diagnosis or management of severe congenital neutropenia: - Cincinnati Children's Hospital: The Severe Congenital Neutropenia International Registry - Gene Review: Gene Review: ELANE-Related Neutropenia - Gene Review: Gene Review: G6PC3 Deficiency - Genetic Testing Registry: Severe conge... | severe congenital neutropenia |
What is (are) Cohen syndrome ? | Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features include progressive nearsightedness (myopia), degeneration of the light-sensitive tissue at t... | Cohen syndrome |
How many people are affected by Cohen syndrome ? | The exact incidence of Cohen syndrome is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed. | Cohen syndrome |
What are the genetic changes related to Cohen syndrome ? | Mutations in the VPS13B gene (frequently called the COH1 gene) cause Cohen syndrome. The function of the protein produced from the VPS13B gene is unknown; however, researchers suggest it may be involved in sorting and transporting proteins inside the cell. Most mutations in the VPS13B gene are believed to prevent cells... | Cohen syndrome |
Is Cohen syndrome 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. | Cohen syndrome |
What are the treatments for Cohen syndrome ? | These resources address the diagnosis or management of Cohen syndrome: - Gene Review: Gene Review: Cohen Syndrome - Genetic Testing Registry: Cohen syndrome - MedlinePlus Encyclopedia: Hypotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - D... | Cohen syndrome |
What is (are) Barth syndrome ? | Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males. In ... | Barth syndrome |
How many people are affected by Barth syndrome ? | Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature. | Barth syndrome |
What are the genetic changes related to Barth syndrome ? | Mutations in the TAZ gene cause Barth syndrome. The TAZ gene provides instructions for making a protein called tafazzin. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles i... | Barth syndrome |
Is Barth syndrome 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... | Barth syndrome |
What are the treatments for Barth syndrome ? | These resources address the diagnosis or management of Barth syndrome: - Cleveland Clinic: Dilated Cardiomyopathy - Gene Review: Gene Review: Barth Syndrome - Genetic Testing Registry: 3-Methylglutaconic aciduria type 2 - Johns Hopkins Children's Center: Neutrophil Disorders - MedlinePlus Encyclopedia: Neutropenia... | Barth syndrome |
What is (are) nonsyndromic paraganglioma ? | Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in... | nonsyndromic paraganglioma |
How many people are affected by nonsyndromic paraganglioma ? | It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 people, and the prevalence of other paragangliomas is 1 in 1 million people. These statistics include syndromic and nonsyndromic paraganglioma and pheochromocytoma. | nonsyndromic paraganglioma |
What are the genetic changes related to nonsyndromic paraganglioma ? | The VHL, RET, SDHB, and SDHD genes can be mutated in both syndromic and nonsyndromic forms of paraganglioma and pheochromocytoma. Mutations in at least three additional genes, TMEM127, SDHA, and KIF1B, have been identified in people with the nonsyndromic form of these conditions. Gene mutations increase the risk of dev... | nonsyndromic paraganglioma |
Is nonsyndromic paraganglioma inherited ? | Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing a paraganglioma or pheochromocytoma. People with mutations in the gene inherit an increased risk of this condition, not the condition itsel... | nonsyndromic paraganglioma |
What are the treatments for nonsyndromic paraganglioma ? | These resources address the diagnosis or management of nonsyndromic paraganglioma: - Genetic Testing Registry: Pheochromocytoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene... | nonsyndromic paraganglioma |
What is (are) hereditary leiomyomatosis and renal cell cancer ? | Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer. In this disorder, growths on the skin (cutaneo... | hereditary leiomyomatosis and renal cell cancer |
How many people are affected by hereditary leiomyomatosis and renal cell cancer ? | HLRCC has been reported in approximately 100 families worldwide. Its prevalence is unknown. | hereditary leiomyomatosis and renal cell cancer |
What are the genetic changes related to hereditary leiomyomatosis and renal cell cancer ? | Mutations in the FH gene cause hereditary leiomyomatosis and renal cell cancer. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use... | hereditary leiomyomatosis and renal cell cancer |
Is hereditary leiomyomatosis and renal cell cancer 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. | hereditary leiomyomatosis and renal cell cancer |
What are the treatments for hereditary leiomyomatosis and renal cell cancer ? | These resources address the diagnosis or management of HLRCC: - Gene Review: Gene Review: Hereditary Leiomyomatosis and Renal Cell Cancer - Genetic Testing Registry: Hereditary leiomyomatosis and renal cell cancer - MedlinePlus Encyclopedia: Renal Cell Carcinoma These resources from MedlinePlus offer information a... | hereditary leiomyomatosis and renal cell cancer |
What is (are) factor V deficiency ? | Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding foll... | factor V deficiency |
How many people are affected by factor V deficiency ? | Factor V deficiency affects an estimated 1 in 1 million people. This condition is more common in countries such as Iran and southern India, where it occurs up to ten times more frequently than in western countries. | factor V deficiency |
What are the genetic changes related to factor V deficiency ? | Factor V deficiency is usually caused by mutations in the F5 gene, which provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. F5 gene mutations that caus... | factor V deficiency |
Is factor V deficiency inherited ? | Factor V deficiency is inherited in an autosomal recessive pattern, which means both copies of the F5 gene in each cell have mutations. Individuals with a mutation in a single copy of the F5 gene have a reduced amount of coagulation factor V in their blood and can have mild bleeding problems, although most have no rela... | factor V deficiency |
What are the treatments for factor V deficiency ? | These resources address the diagnosis or management of factor V deficiency: - Genetic Testing Registry: Factor V deficiency - MedlinePlus Encyclopedia: Factor V Deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... | factor V deficiency |
What is (are) glucose-6-phosphate dehydrogenase deficiency ? | Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood ce... | glucose-6-phosphate dehydrogenase deficiency |
How many people are affected by glucose-6-phosphate dehydrogenase deficiency ? | An estimated 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. This condition occurs most frequently in certain parts of Africa, Asia, and the Mediterranean. It affects about 1 in 10 African American males in the United States. | glucose-6-phosphate dehydrogenase deficiency |
What are the genetic changes related to glucose-6-phosphate dehydrogenase deficiency ? | Mutations in the G6PD gene cause glucose-6-phosphate dehydrogenase deficiency. The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is involved in the normal processing of carbohydrates. It also protects red blood cells from the effects of potentially harmful m... | glucose-6-phosphate dehydrogenase deficiency |
Is glucose-6-phosphate dehydrogenase deficiency 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... | glucose-6-phosphate dehydrogenase deficiency |
What are the treatments for glucose-6-phosphate dehydrogenase deficiency ? | These resources address the diagnosis or management of glucose-6-phosphate dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Glucose 6 phosphate dehydrogenase deficiency - MedlinePlus Encyclopedia: Glucose-6-phosphate dehydrogenase deficiency - MedlinePlus Encyclopedia: Glucose-6-phosphate d... | glucose-6-phosphate dehydrogenase deficiency |
What is (are) Liddle syndrome ? | Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or s... | Liddle syndrome |
How many people are affected by Liddle syndrome ? | Liddle syndrome is a rare condition, although its prevalence is unknown. The condition has been found in populations worldwide. | Liddle syndrome |
What are the genetic changes related to Liddle syndrome ? | Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. Each of these genes provides instructions for making a piece (subunit) of a protein complex called the epithelial sodium channel (ENaC). These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, incl... | Liddle syndrome |
Is Liddle 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. | Liddle syndrome |
What are the treatments for Liddle syndrome ? | These resources address the diagnosis or management of Liddle syndrome: - Genetic Testing Registry: Pseudoprimary hyperaldosteronism - Merck Manual for Health Care Professionals These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... | Liddle syndrome |
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