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What is (are) spastic paraplegia type 11 ? | Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and... | spastic paraplegia type 11 |
How many people are affected by spastic paraplegia type 11 ? | Over 100 cases of spastic paraplegia type 11 have been reported. Although this condition is thought to be rare, its exact prevalence is unknown. | spastic paraplegia type 11 |
What are the genetic changes related to spastic paraplegia type 11 ? | Mutations in the SPG11 gene cause spastic paraplegia type 11. The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that spatacsin may be involved in the maintenance of axons, wh... | spastic paraplegia type 11 |
Is spastic paraplegia type 11 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. | spastic paraplegia type 11 |
What are the treatments for spastic paraplegia type 11 ? | These resources address the diagnosis or management of spastic paraplegia type 11: - Gene Review: Gene Review: Spastic Paraplegia 11 - Genetic Testing Registry: Spastic paraplegia 11, autosomal recessive - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer informat... | spastic paraplegia type 11 |
What is (are) thrombocytopenia-absent radius syndrome ? | Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm. Affected individuals also have a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less s... | thrombocytopenia-absent radius syndrome |
How many people are affected by thrombocytopenia-absent radius syndrome ? | TAR syndrome is a rare disorder, affecting fewer than 1 in 100,000 newborns. | thrombocytopenia-absent radius syndrome |
What are the genetic changes related to thrombocytopenia-absent radius syndrome ? | Mutations in the RBM8A gene cause TAR syndrome. The RBM8A gene provides instructions for making a protein called RNA-binding motif protein 8A. This protein is believed to be involved in several important cellular functions involving the production of other proteins. Most people with TAR syndrome have a mutation in one... | thrombocytopenia-absent radius syndrome |
Is thrombocytopenia-absent radius syndrome inherited ? | TAR syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell are altered. In this disorder, either both copies of the RBM8A gene in each cell have mutations or, more commonly, one copy of the gene has a mutation and the other is lost as part of a deleted segment on chrom... | thrombocytopenia-absent radius syndrome |
What are the treatments for thrombocytopenia-absent radius syndrome ? | These resources address the diagnosis or management of TAR syndrome: - Gene Review: Gene Review: Thrombocytopenia Absent Radius Syndrome - Genetic Testing Registry: Radial aplasia-thrombocytopenia syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information ab... | thrombocytopenia-absent radius syndrome |
What is (are) Jackson-Weiss syndrome ? | Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and 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. Many of the characteristic facial features of Jackson-Weiss syndrom... | Jackson-Weiss syndrome |
How many people are affected by Jackson-Weiss syndrome ? | Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown. | Jackson-Weiss syndrome |
What are the genetic changes related to Jackson-Weiss syndrome ? | Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene ... | Jackson-Weiss syndrome |
Is Jackson-Weiss 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. | Jackson-Weiss syndrome |
What are the treatments for Jackson-Weiss syndrome ? | These resources address the diagnosis or management of Jackson-Weiss syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Jackson-Weiss syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis a... | Jackson-Weiss syndrome |
What is (are) cystic fibrosis ? | Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity... | cystic fibrosis |
How many people are affected by cystic fibrosis ? | Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans. | cystic fibrosis |
What are the genetic changes related to cystic fibrosis ? | Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; fo... | cystic fibrosis |
Is cystic fibrosis 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. | cystic fibrosis |
What are the treatments for cystic fibrosis ? | These resources address the diagnosis or management of cystic fibrosis: - American Society for Reproductive Medicine: Male Infertility - Baby's First Test - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Cystic fibrosis - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: ... | cystic fibrosis |
What is (are) Guillain-Barr syndrome ? | Guillain-Barr syndrome is an autoimmune disorder that affects the nerves. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In Guillain-Barr syndrome, the immune response damages peripheral nerves, which are the nerves that connect the central nervous system (... | Guillain-Barr syndrome |
How many people are affected by Guillain-Barr syndrome ? | The prevalence of Guillain-Barr syndrome is estimated to be 6 to 40 cases per 1 million people. The occurrence of the different types of Guillain-Barr syndrome varies across regions. AIDP is the most common type in North America and Europe, accounting for approximately 90 percent of cases of Guillain-Barr syndrome in t... | Guillain-Barr syndrome |
What are the genetic changes related to Guillain-Barr syndrome ? | Some studies show that normal variations in certain genes may be associated with an increased risk of developing Guillain-Barr syndrome; however, more research is necessary to identify and confirm associated genes. Many of the genes that may increase the risk of Guillain-Barr syndrome are involved in the immune system,... | Guillain-Barr syndrome |
Is Guillain-Barr syndrome inherited ? | Almost all cases of Guillain-Barr syndrome are sporadic, which means they occur in people with no history of the condition in their family. A few families with more than one affected family member have been described; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmenta... | Guillain-Barr syndrome |
What are the treatments for Guillain-Barr syndrome ? | These resources address the diagnosis or management of Guillain-Barr syndrome: - Genetic Testing Registry: Guillain-Barre syndrome, familial - National Institute of Neurological Disorders and Stroke: Guillain-Barr Syndrome Fact Sheet These resources from MedlinePlus offer information about the diagnosis and managem... | Guillain-Barr syndrome |
What is (are) spinocerebellar ataxia type 2 ? | Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include speech and swallowing difficulties, rigidity, tremors, and weakness in ... | spinocerebellar ataxia type 2 |
How many people are affected by spinocerebellar ataxia type 2 ? | The prevalence of SCA2 is unknown. This condition is estimated to be one of the most common types of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, particularly in the Holgun province, where approximately 40 per 100,000 individuals are affected. | spinocerebellar ataxia type 2 |
What are the genetic changes related to spinocerebellar ataxia type 2 ? | Mutations in the ATXN2 gene cause SCA2. The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm), where it appears to interact with a cell structure called the endoplasmic re... | spinocerebellar ataxia type 2 |
Is spinocerebellar ataxia type 2 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. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA2 do not have a parent with the disorder. Individuals who h... | spinocerebellar ataxia type 2 |
What are the treatments for spinocerebellar ataxia type 2 ? | These resources address the diagnosis or management of SCA2: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 2 - Genetic Testing Registry: Spinocerebellar ataxia 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... | spinocerebellar ataxia type 2 |
What is (are) Cushing disease ? | Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this condition is usually weight gain around the trunk and in t... | Cushing disease |
How many people are affected by Cushing disease ? | Cushing disease is estimated to occur in 10 to 15 per million people worldwide. For reasons that are unclear, Cushing disease affects females more often than males. | Cushing disease |
What are the genetic changes related to Cushing disease ? | The genetic cause of Cushing disease is often unknown. In only a few instances, mutations in certain genes have been found to lead to Cushing disease. These genetic changes are called somatic mutations. They are acquired during a person's lifetime and are present only in certain cells. The genes involved often play a r... | Cushing disease |
Is Cushing disease inherited ? | Most cases of Cushing disease are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. The various syndromes that have Cushing disease as a feature can have diffe... | Cushing disease |
What are the treatments for Cushing disease ? | These resources address the diagnosis or management of Cushing disease: - Genetic Testing Registry: Pituitary dependent hypercortisolism - MedlinePlus Encyclopedia: Cortisol Level - MedlinePlus Encyclopedia: Cushing Disease - The Endocrine Society's Clinical Guidelines: The Diagnosis of Cushing's Syndrome These r... | Cushing disease |
What is (are) distal hereditary motor neuropathy, type II ? | Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs. Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of... | distal hereditary motor neuropathy, type II |
How many people are affected by distal hereditary motor neuropathy, type II ? | The prevalence of distal hereditary motor neuropathy, type II is unknown. At least 25 affected families have been identified worldwide. | distal hereditary motor neuropathy, type II |
What are the genetic changes related to distal hereditary motor neuropathy, type II ? | Mutations in the HSPB1 and HSPB8 genes cause distal hereditary motor neuropathy, type II. These genes provide instructions for making proteins called heat shock protein beta-1 and heat shock protein beta-8. Heat shock proteins help protect cells under adverse conditions such as infection, inflammation, exposure to toxi... | distal hereditary motor neuropathy, type II |
Is distal hereditary motor neuropathy, type II 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. | distal hereditary motor neuropathy, type II |
What are the treatments for distal hereditary motor neuropathy, type II ? | These resources address the diagnosis or management of distal hereditary motor neuropathy, type II: - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2A - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2B - MedlinePlus Encyclopedia: Weakness These resources from MedlinePlus... | distal hereditary motor neuropathy, type II |
What is (are) Erdheim-Chester disease ? | Erdheim-Chester disease is a rare disorder characterized by histiocytosis, a condition in which the immune system produces excess quantities of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. Erdheim-Chester disease is classified as a form of no... | Erdheim-Chester disease |
How many people are affected by Erdheim-Chester disease ? | Erdheim-Chester disease is a rare disorder; its exact prevalence is unknown. More than 500 affected individuals worldwide have been described in the medical literature. For unknown reasons, men are slightly more likely to develop the disease, accounting for about 60 percent of cases. | Erdheim-Chester disease |
What are the genetic changes related to Erdheim-Chester disease ? | More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder. The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This pro... | Erdheim-Chester disease |
Is Erdheim-Chester disease inherited ? | This condition is not inherited. It arises from a somatic mutation in histiocytes or their precursor cells during an individual's lifetime. | Erdheim-Chester disease |
What are the treatments for Erdheim-Chester disease ? | These resources address the diagnosis or management of Erdheim-Chester disease: - Histiocytosis Association: Erdheim-Chester Disease Diagnosis and Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surge... | Erdheim-Chester disease |
What is (are) histidinemia ? | Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated hist... | histidinemia |
How many people are affected by histidinemia ? | Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people. | histidinemia |
What are the genetic changes related to histidinemia ? | Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver and the skin. HAL gene mutations lead to the production of a histidase enzym... | histidinemia |
Is histidinemia 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. | histidinemia |
What are the treatments for histidinemia ? | These resources address the diagnosis or management of histidinemia: - Genetic Testing Registry: Histidinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling -... | histidinemia |
What is (are) ALG12-congenital disorder of glycosylation ? | ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have... | ALG12-congenital disorder of glycosylation |
How many people are affected by ALG12-congenital disorder of glycosylation ? | ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of affected individuals have been described in the medical literature. | ALG12-congenital disorder of glycosylation |
What are the genetic changes related to ALG12-congenital disorder of glycosylation ? | Mutations in the ALG12 gene cause ALG12-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can ... | ALG12-congenital disorder of glycosylation |
Is ALG12-congenital disorder of glycosylation 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. | ALG12-congenital disorder of glycosylation |
What are the treatments for ALG12-congenital disorder of glycosylation ? | These resources address the diagnosis or management of ALG12-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1G These resources from MedlinePlus offer information about the diagnosis and management... | ALG12-congenital disorder of glycosylation |
What is (are) recurrent hydatidiform mole ? | Recurrent hydatidiform mole occurs when women have at least two abnormal pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in pregnancy when an embryo does not fully develop and the placenta develops abnormally. The placenta is a solid structure in the uterus that normally provides nutrients... | recurrent hydatidiform mole |
How many people are affected by recurrent hydatidiform mole ? | Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western countries and are more common in developing countries. One to six percent of previously affected women will have a recurrent hydatidiform mole. | recurrent hydatidiform mole |
What are the genetic changes related to recurrent hydatidiform mole ? | Mutations in the NLRP7 or KHDC3L gene can cause recurrent hydatidiform mole, with NLRP7 gene mutations being the most common cause. Within egg cells (oocytes), both the NLRP7 and KHDC3L proteins are thought to play a role in turning off (inactivating) certain genes based on which parent the copy of the gene came from,... | recurrent hydatidiform mole |
Is recurrent hydatidiform mole inherited ? | This condition is often inherited in an autosomal recessive pattern, which means a woman has to have mutations in both copies of the gene in each of her cells to have recurrent hydatidiform mole pregnancies. Because the mutations are present in all of a woman's cells, including oocytes (which need these genes to promot... | recurrent hydatidiform mole |
What are the treatments for recurrent hydatidiform mole ? | These resources address the diagnosis or management of recurrent hydatidiform mole: - American Cancer Society: Signs and Symptoms of Gestational Trophoblastic Disease - Genetic Testing Registry: Hydatidiform mole - Genetic Testing Registry: Hydatidiform mole, recurrent, 2 - MedlinePlus Encyclopedia: Choriocarcinoma... | recurrent hydatidiform mole |
What is (are) antiphospholipid syndrome ? | Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently oc... | antiphospholipid syndrome |
How many people are affected by antiphospholipid syndrome ? | The exact prevalence of antiphospholipid syndrome is unknown. This condition is thought to be fairly common, and may be responsible for up to one percent of all thromboses. It is estimated that 20 percent of individuals younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 percent of people wi... | antiphospholipid syndrome |
What are the genetic changes related to antiphospholipid syndrome ? | The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I. Antibodies normally bind to specific foreign particles and germs, marking them for dest... | antiphospholipid syndrome |
Is antiphospholipid syndrome inherited ? | Most cases of antiphospholipid syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in d... | antiphospholipid syndrome |
What are the treatments for antiphospholipid syndrome ? | These resources address the diagnosis or management of antiphospholipid syndrome: - Genetic Testing Registry: Antiphospholipid syndrome - Hughes Syndrome Foundation: Diagnosis: How To Get Tested - Hughes Syndrome Foundation: Treatment and Medication: Current Advice and Information - National Heart Lung and Blood In... | antiphospholipid syndrome |
What is (are) Arts syndrome ? | Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities ... | Arts syndrome |
How many people are affected by Arts syndrome ? | Arts syndrome appears to be extremely rare. Only a few families with this disorder have been described in the medical literature. | Arts syndrome |
What are the genetic changes related to Arts syndrome ? | Mutations in the PRPS1 gene cause Arts syndrome. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such a... | Arts syndrome |
Is Arts syndrome inherited ? | This condition is inherited in an X-linked 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), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes... | Arts syndrome |
What are the treatments for Arts syndrome ? | These resources address the diagnosis or management of Arts syndrome: - Gene Review: Gene Review: Arts Syndrome - Genetic Testing Registry: Arts syndrome - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, Uncoordinated - MedlinePlus Encyclopedia: Optic Nerve Atrophy These resources fr... | Arts syndrome |
What is (are) cap myopathy ? | Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscl... | cap myopathy |
How many people are affected by cap myopathy ? | Cap myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown. | cap myopathy |
What are the genetic changes related to cap myopathy ? | Mutations in the ACTA1, TPM2, or TPM3 genes can cause cap myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. The ACTA1 gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. Actin proteins ... | cap myopathy |
Is cap myopathy inherited ? | Cap myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family. | cap myopathy |
What are the treatments for cap myopathy ? | These resources address the diagnosis or management of cap myopathy: - Genetic Testing Registry: TPM2-related cap myopathy - Genetic Testing Registry: cap myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | cap myopathy |
What is (are) Costeff syndrome ? | Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results ... | Costeff syndrome |
How many people are affected by Costeff syndrome ? | Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi Jewish population, in which at least 40 cases have been described. Outside this population, only a few affected individuals have been identified. | Costeff syndrome |
What are the genetic changes related to Costeff syndrome ? | Mutations in the OPA3 gene cause Costeff syndrome. The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in structures called mitochondria, which are the energy-producing centers of cells. Researchers speculate that the OPA3 protein is involved in regulating... | Costeff syndrome |
Is Costeff 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. | Costeff syndrome |
What are the treatments for Costeff syndrome ? | These resources address the diagnosis or management of Costeff syndrome: - Baby's First Test - Gene Review: Gene Review: OPA3-Related 3-Methylglutaconic Aciduria - Genetic Testing Registry: 3-Methylglutaconic aciduria type 3 - MedlinePlus Encyclopedia: Optic Nerve Atrophy These resources from MedlinePlus offer in... | Costeff syndrome |
What is (are) hemophilia ? | Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous b... | hemophilia |
How many people are affected by hemophilia ? | The two major forms of hemophilia occur much more commonly in males than in females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide. | hemophilia |
What are the genetic changes related to hemophilia ? | Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. Coagulation factors are proteins that work together i... | hemophilia |
Is hemophilia inherited ? | Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are 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... | hemophilia |
What are the treatments for hemophilia ? | These resources address the diagnosis or management of hemophilia: - Gene Review: Gene Review: Hemophilia A - Gene Review: Gene Review: Hemophilia B - Genetic Testing Registry: HEMOPHILIA B(M) - Genetic Testing Registry: Hemophilia - Genetic Testing Registry: Hereditary factor IX deficiency disease - Genetic Test... | hemophilia |
What is (are) retinitis pigmentosa ? | Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Th... | retinitis pigmentosa |
How many people are affected by retinitis pigmentosa ? | Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 people in the United States and Europe. | retinitis pigmentosa |
What are the genetic changes related to retinitis pigmentosa ? | Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases.... | retinitis pigmentosa |
Is retinitis pigmentosa inherited ? | Retinitis pigmentosa often has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant retinitis pigmentosa have an affected parent and other family members with the disorder. Retinitis pigmentosa can also ... | retinitis pigmentosa |
What are the treatments for retinitis pigmentosa ? | These resources address the diagnosis or management of retinitis pigmentosa: - American Foundation for the Blind: Living with Vision Loss - Foundation Fighting Blindness: Treatment of Retinitis Pigmentosa - Gene Review: Gene Review: Retinitis Pigmentosa Overview - Genetic Testing Registry: Retinitis pigmentosa - R... | retinitis pigmentosa |
What is (are) steatocystoma multiplex ? | Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum. ... | steatocystoma multiplex |
How many people are affected by steatocystoma multiplex ? | Although the prevalence of steatocystoma multiplex is unknown, it appears to be rare. | steatocystoma multiplex |
What are the genetic changes related to steatocystoma multiplex ? | Steatocystoma multiplex can be caused by mutations in the KRT17 gene. This gene provides instructions for making a protein called keratin 17, which is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet. It is also found in the skin's sebaceous glands. Keratin 17 part... | steatocystoma multiplex |
Is steatocystoma multiplex inherited ? | When steatocystoma multiplex is caused by mutations in the KRT17 gene, it is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent. ... | steatocystoma multiplex |
What are the treatments for steatocystoma multiplex ? | These resources address the diagnosis or management of steatocystoma multiplex: - Genetic Testing Registry: Steatocystoma multiplex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... | steatocystoma multiplex |
What is (are) LAMA2-related muscular dystrophy ? | LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form. Early-onset LAMA2-related muscular dystrophy is apparent at birth o... | LAMA2-related muscular dystrophy |
How many people are affected by LAMA2-related muscular dystrophy ? | The prevalence of early-onset LAMA2-related muscular dystrophy is estimated at 1 in 30,000 individuals. This condition accounts for between 30 and 40 percent of total cases of congenital muscular dystrophy, although its contribution may be higher or lower than this range in specific populations. Late-onset LAMA2-relate... | LAMA2-related muscular dystrophy |
What are the genetic changes related to LAMA2-related muscular dystrophy ? | As its name suggests, LAMA2-related muscular dystrophy is caused by mutations in the LAMA2 gene. This gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several form... | LAMA2-related muscular dystrophy |
Is LAMA2-related muscular dystrophy 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. | LAMA2-related muscular dystrophy |
What are the treatments for LAMA2-related muscular dystrophy ? | These resources address the diagnosis or management of LAMA2-related muscular dystrophy: - Boston Children's Hospital: Treatment and Care for Muscular Dystrophy - Gene Review: Gene Review: LAMA2-Related Muscular Dystrophy - Genetic Testing Registry: Congenital muscular dystrophy due to partial LAMA2 deficiency - Ge... | LAMA2-related muscular dystrophy |
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