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What is (are) familial Mediterranean fever ? | Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the memb... | familial Mediterranean fever |
How many people are affected by familial Mediterranean fever ? | Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations. | familial Mediterranean fever |
What are the genetic changes related to familial Mediterranean fever ? | Mutations in the MEFV gene cause familial Mediterranean fever. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells. This protein is involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when ... | familial Mediterranean fever |
Is familial Mediterranean fever inherited ? | Familial Mediterranean fever is almost always inherited in an autosomal recessive pattern, which means both copies of the MEFV 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 o... | familial Mediterranean fever |
What are the treatments for familial Mediterranean fever ? | These resources address the diagnosis or management of familial Mediterranean fever: - Gene Review: Gene Review: Familial Mediterranean Fever - Genetic Testing Registry: Familial Mediterranean fever These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | familial Mediterranean fever |
What is (are) primary hyperoxaluria ? | Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. Primary hyperoxaluria result... | primary hyperoxaluria |
How many people are affected by primary hyperoxaluria ? | Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases. | primary hyperoxaluria |
What are the genetic changes related to primary hyperoxaluria ? | Mutations in the AGXT, GRHPR, and HOGA1 genes cause primary hyperoxaluria types 1, 2, and 3, respectively. These genes provide instructions for making enzymes that are involved in the breakdown and processing of protein building blocks (amino acids) and other compounds. The enzyme produced from the HOGA1 gene is involv... | primary hyperoxaluria |
Is primary hyperoxaluria 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. | primary hyperoxaluria |
What are the treatments for primary hyperoxaluria ? | These resources address the diagnosis or management of primary hyperoxaluria: - Gene Review: Gene Review: Primary Hyperoxaluria Type 1 - Gene Review: Gene Review: Primary Hyperoxaluria Type 2 - Gene Review: Gene Review: Primary Hyperoxaluria Type 3 - Genetic Testing Registry: Hyperoxaluria - Genetic Testing Regist... | primary hyperoxaluria |
What is (are) GM2-gangliosidosis, AB variant ? | GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Signs and symptoms of the AB variant become apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows an... | GM2-gangliosidosis, AB variant |
How many people are affected by GM2-gangliosidosis, AB variant ? | The AB variant is extremely rare; only a few cases have been reported worldwide. | GM2-gangliosidosis, AB variant |
What are the genetic changes related to GM2-gangliosidosis, AB variant ? | Mutations in the GM2A gene cause GM2-gangliosidosis, AB variant. The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is required for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. Beta-hexos... | GM2-gangliosidosis, AB variant |
Is GM2-gangliosidosis, AB variant 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. | GM2-gangliosidosis, AB variant |
What are the treatments for GM2-gangliosidosis, AB variant ? | These resources address the diagnosis or management of GM2-gangliosidosis, AB variant: - Genetic Testing Registry: Tay-Sachs disease, variant AB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehab... | GM2-gangliosidosis, AB variant |
What is (are) mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? | Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal de... | mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes |
How many people are affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? | The exact incidence of MELAS is unknown. It is one of the more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people. | mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes |
What are the genetic changes related to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? | MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mi... | mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes |
Is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes inherited ? | This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutatio... | mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes |
What are the treatments for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? | These resources address the diagnosis or management of MELAS: - Gene Review: Gene Review: MELAS - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke - MedlinePlus Encyclopedia: Lactic acidosis - MedlinePlus Encycloped... | mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes |
What is (are) Kuskokwim syndrome ? | Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of native Alaskans known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim... | Kuskokwim syndrome |
How many people are affected by Kuskokwim syndrome ? | Kuskokwim syndrome is extremely rare. It affects a small number of people from the Yup'ik Eskimo population in southwest Alaska. | Kuskokwim syndrome |
What are the genetic changes related to Kuskokwim syndrome ? | Kuskokwim syndrome is caused by mutations in the FKBP10 gene, which provides instructions for making the FKBP10 protein (formerly known as FKBP65). This protein is important for the correct processing of complex molecules called collagens, which provide structure and strength to connective tissues that support the body... | Kuskokwim syndrome |
Is Kuskokwim 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. | Kuskokwim syndrome |
What are the treatments for Kuskokwim syndrome ? | These resources address the diagnosis or management of Kuskokwim syndrome: - Genetic Testing Registry: Kuskokwim disease - Mount Sinai Hospital: Contractures Information These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... | Kuskokwim syndrome |
What is (are) MYH9-related disorder ? | MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of... | MYH9-related disorder |
How many people are affected by MYH9-related disorder ? | The incidence of MYH9-related disorder is unknown. More than 200 affected families have been reported in the scientific literature. | MYH9-related disorder |
What are the genetic changes related to MYH9-related disorder ? | MYH9-related disorder is caused by mutations in the MYH9 gene. The MYH9 gene provides instructions for making a protein called myosin-9. This protein is one part (subunit) of the myosin IIA protein. There are three forms of myosin II, called myosin IIA, myosin IIB and myosin IIC. The three forms are found throughout t... | MYH9-related disorder |
Is MYH9-related disorder 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 most cases, an affected person inherits the mutation from one affected parent. Approximately 30 percent of cases result from new mutations in the gene and occur in... | MYH9-related disorder |
What are the treatments for MYH9-related disorder ? | These resources address the diagnosis or management of MYH9-related disorder: - Gene Review: Gene Review: MYH9-Related Disorders - Genetic Testing Registry: Epstein syndrome - Genetic Testing Registry: Fechtner syndrome - Genetic Testing Registry: Macrothrombocytopenia and progressive sensorineural deafness - Gene... | MYH9-related disorder |
What is (are) Milroy disease ? | Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema... | Milroy disease |
How many people are affected by Milroy disease ? | Milroy disease is a rare disorder; its incidence is unknown. | Milroy disease |
What are the genetic changes related to Milroy disease ? | Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, moveme... | Milroy disease |
Is Milroy disease inherited ? | Milroy disease 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 many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. These cases occur in peop... | Milroy disease |
What are the treatments for Milroy disease ? | These resources address the diagnosis or management of Milroy disease: - Gene Review: Gene Review: Milroy Disease - Genetic Testing Registry: Hereditary lymphedema type I - MedlinePlus Encyclopedia: Lymphatic Obstruction These resources from MedlinePlus offer information about the diagnosis and management of vario... | Milroy disease |
What is (are) familial atrial fibrillation ? | Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. If untreated, this abnormal heart rhythm can lead to di... | familial atrial fibrillation |
How many people are affected by familial atrial fibrillation ? | Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies sug... | familial atrial fibrillation |
What are the genetic changes related to familial atrial fibrillation ? | A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cell... | familial atrial fibrillation |
Is familial atrial fibrillation inherited ? | Familial atrial fibrillation appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | familial atrial fibrillation |
What are the treatments for familial atrial fibrillation ? | These resources address the diagnosis or management of familial atrial fibrillation: - Genetic Testing Registry: Atrial fibrillation, familial, 1 - Genetic Testing Registry: Atrial fibrillation, familial, 2 - Genetic Testing Registry: Atrial fibrillation, familial, 3 - MedlinePlus Encyclopedia: Arrhythmias - Medli... | familial atrial fibrillation |
What is (are) GRN-related frontotemporal dementia ? | GRN-related frontotemporal dementia is a progressive brain disorder that can affect behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people typically survive 6 to 7 years after the appearance of symptoms. However, the features of th... | GRN-related frontotemporal dementia |
How many people are affected by GRN-related frontotemporal dementia ? | GRN-related frontotemporal dementia affects an estimated 3 to 15 per 100,000 people aged 45 to 64. This condition accounts for 5 to 10 percent of all cases of frontotemporal dementia. | GRN-related frontotemporal dementia |
What are the genetic changes related to GRN-related frontotemporal dementia ? | GRN-related frontotemporal dementia results from mutations in the GRN gene. This gene provides instructions for making a protein called granulin (also known as progranulin). Granulin is active in many different tissues in the body, where it helps control the growth, division, and survival of cells. Granulin's function ... | GRN-related frontotemporal dementia |
Is GRN-related frontotemporal dementia 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 most cases, an affected person has a parent and other family members with the condition. | GRN-related frontotemporal dementia |
What are the treatments for GRN-related frontotemporal dementia ? | These resources address the diagnosis or management of GRN-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: GRN-Related Frontotemporal Dementia - Genetic Testing Registry: Frontotemporal dementia, ubiquitin-positive These resources from MedlinePlus offer information about th... | GRN-related frontotemporal dementia |
What is (are) nemaline myopathy ? | Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. ... | nemaline myopathy |
How many people are affected by nemaline myopathy ? | Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals. | nemaline myopathy |
What are the genetic changes related to nemaline myopathy ? | Mutations in one of many genes can cause nemaline myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. Within skeletal muscle cells, these proteins are found in structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). Many of the... | nemaline myopathy |
Is nemaline myopathy inherited ? | Nemaline myopathy is usually 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. Less... | nemaline myopathy |
What are the treatments for nemaline myopathy ? | These resources address the diagnosis or management of nemaline myopathy: - Gene Review: Gene Review: Nemaline Myopathy - Genetic Testing Registry: Nemaline myopathy - Genetic Testing Registry: Nemaline myopathy 1 - Genetic Testing Registry: Nemaline myopathy 10 - Genetic Testing Registry: Nemaline myopathy 2 - G... | nemaline myopathy |
What is (are) CASK-related intellectual disability ? | CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do f... | CASK-related intellectual disability |
How many people are affected by CASK-related intellectual disability ? | The prevalence of CASK-related intellectual disability is unknown. More than 50 females with MICPCH have been described in the medical literature, while only a few affected males have been described. By contrast, more than 20 males but only a few females have been diagnosed with the milder form of the disorder, XL-ID ... | CASK-related intellectual disability |
What are the genetic changes related to CASK-related intellectual disability ? | CASK-related intellectual disability, as its name suggests, is caused by mutations in the CASK gene. This gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control th... | CASK-related intellectual disability |
Is CASK-related intellectual disability inherited ? | This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell is sufficient to... | CASK-related intellectual disability |
What are the treatments for CASK-related intellectual disability ? | These resources address the diagnosis or management of CASK-related intellectual disability: - Gene Review: Gene Review: CASK-Related Disorders - Genetic Testing Registry: Mental retardation and microcephaly with pontine and cerebellar hypoplasia These resources from MedlinePlus offer information about the diagnosi... | CASK-related intellectual disability |
What is (are) von Hippel-Lindau syndrome ? | Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome ... | von Hippel-Lindau syndrome |
How many people are affected by von Hippel-Lindau syndrome ? | The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals. | von Hippel-Lindau syndrome |
What are the genetic changes related to von Hippel-Lindau syndrome ? | Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. A... | von Hippel-Lindau syndrome |
Is von Hippel-Lindau syndrome inherited ? | Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and cysts. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from an affected parent. In about 20 per... | von Hippel-Lindau syndrome |
What are the treatments for von Hippel-Lindau syndrome ? | These resources address the diagnosis or management of von Hippel-Lindau syndrome: - Brigham and Women's Hospital - Gene Review: Gene Review: Von Hippel-Lindau Syndrome - Genetic Testing Registry: Von Hippel-Lindau syndrome - Genomics Education Programme (UK) - MD Anderson Cancer Center - MedlinePlus Encyclopedia... | von Hippel-Lindau syndrome |
What is (are) leukoencephalopathy with vanishing white matter ? | Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulate... | leukoencephalopathy with vanishing white matter |
How many people are affected by leukoencephalopathy with vanishing white matter ? | The prevalence of leukoencephalopathy with vanishing white matter is unknown. Although it is a rare disorder, it is believed to be one of the most common inherited diseases that affect the white matter. | leukoencephalopathy with vanishing white matter |
What are the genetic changes related to leukoencephalopathy with vanishing white matter ? | Mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter. The EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 genes provide instructions for making the five parts (subunits) of a protein called eIF2B. The eIF2B protein helps regulate overall protein production (... | leukoencephalopathy with vanishing white matter |
Is leukoencephalopathy with vanishing white matter 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. | leukoencephalopathy with vanishing white matter |
What are the treatments for leukoencephalopathy with vanishing white matter ? | These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter: - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter - Genetic Testing Registry: Leukoencephalopathy with vanishing white matter These resources from Medl... | leukoencephalopathy with vanishing white matter |
What is (are) methemoglobinemia, beta-globin type ? | Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissue... | methemoglobinemia, beta-globin type |
How many people are affected by methemoglobinemia, beta-globin type ? | The incidence of methemoglobinemia, beta-globin type is unknown. | methemoglobinemia, beta-globin type |
What are the genetic changes related to methemoglobinemia, beta-globin type ? | Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that make up hemoglobin. In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another p... | methemoglobinemia, beta-globin type |
Is methemoglobinemia, beta-globin type 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. | methemoglobinemia, beta-globin type |
What are the treatments for methemoglobinemia, beta-globin type ? | These resources address the diagnosis or management of methemoglobinemia, beta-globin type: - Genetic Testing Registry: Methemoglobinemia, beta-globin type - KidsHealth from Nemours: Blood Test: Hemoglobin - MedlinePlus Encyclopedia: Hemoglobin - MedlinePlus Encyclopedia: Methemoglobinemia - MedlinePlus Encycloped... | methemoglobinemia, beta-globin type |
What is (are) STING-associated vasculopathy with onset in infancy ? | STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight micr... | STING-associated vasculopathy with onset in infancy |
How many people are affected by STING-associated vasculopathy with onset in infancy ? | The prevalence of this condition is unknown. Only a few affected individuals have been described in the medical literature. | STING-associated vasculopathy with onset in infancy |
What are the genetic changes related to STING-associated vasculopathy with onset in infancy ? | SAVI is caused by mutations in the TMEM173 gene. This gene provides instructions for making a protein called STING, which is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation. The TMEM173 gene mutations that cause SAVI ar... | STING-associated vasculopathy with onset in infancy |
Is STING-associated vasculopathy with onset in infancy 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 most cases, this condition likely results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early... | STING-associated vasculopathy with onset in infancy |
What are the treatments for STING-associated vasculopathy with onset in infancy ? | These resources address the diagnosis or management of SAVI: - Beth Israel Deaconess Medical Center: Autoinflammatory Disease Center - Eurofever Project - Genetic Testing Registry: Sting-associated vasculopathy, infantile-onset - University College London: Vasculitis and Autoinflammation Research Group These reso... | STING-associated vasculopathy with onset in infancy |
What is (are) 3-M syndrome ? | 3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and skeletal abnormalities. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. Individuals with 3-M syndrome grow extremely slowly before birth, and thi... | 3-M syndrome |
How many people are affected by 3-M syndrome ? | 3-M syndrome is a rare disorder. About 50 individuals with this disorder have been identified worldwide. | 3-M syndrome |
What are the genetic changes related to 3-M syndrome ? | Mutations in the CUL7 gene cause 3-M syndrome. The CUL7 gene provides instructions for making a protein called cullin-7. This protein plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system. Cullin-7 helps to assemble a complex known as an E3 ubiquitin l... | 3-M syndrome |
Is 3-M 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. | 3-M syndrome |
What are the treatments for 3-M syndrome ? | These resources address the diagnosis or management of 3-M syndrome: - Gene Review: Gene Review: 3-M Syndrome - Genetic Testing Registry: Three M syndrome 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surg... | 3-M syndrome |
What is (are) dopa-responsive dystonia ? | Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained u... | dopa-responsive dystonia |
How many people are affected by dopa-responsive dystonia ? | Dopa-responsive dystonia is estimated to affect 1 per million people worldwide. However, the disorder is likely underdiagnosed because the condition may not be identified in people with mild symptoms, or it may be misdiagnosed in people who have symptoms similar to other movement disorders. | dopa-responsive dystonia |
What are the genetic changes related to dopa-responsive dystonia ? | Mutations in the GCH1 gene are the most common cause of dopa-responsive dystonia. Less often, mutations in the TH or SPR gene cause this condition. The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase. This enzyme is involved in the first of three steps in the production of a molecule cal... | dopa-responsive dystonia |
Is dopa-responsive dystonia inherited ? | When dopa-responsive dystonia is caused by mutations in the GCH1 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 ne... | dopa-responsive dystonia |
What are the treatments for dopa-responsive dystonia ? | These resources address the diagnosis or management of dopa-responsive dystonia: - Dartmouth-Hitchcock Children's Hospital at Dartmouth - Gene Review: Gene Review: Dystonia Overview - Gene Review: Gene Review: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia - Genetic Testing Registry: Dystonia 5, Dopa-respo... | dopa-responsive dystonia |
What is (are) prekallikrein deficiency ? | Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein ... | prekallikrein deficiency |
How many people are affected by prekallikrein deficiency ? | The prevalence of prekallikrein deficiency is unknown. Approximately 80 affected individuals in about 30 families have been described in the medical literature. Because prekallikrein deficiency usually does not cause any symptoms, researchers suspect that most people with the condition are never diagnosed. | prekallikrein deficiency |
What are the genetic changes related to prekallikrein deficiency ? | Prekallikrein deficiency is caused by mutations in the KLKB1 gene, which provides instructions for making a protein called prekallikrein. This protein, when converted to an active form called plasma kallikrein in the blood, is involved in the early stages of blood clotting. Plasma kallikrein plays a role in a process c... | prekallikrein deficiency |
Is prekallikrein 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. | prekallikrein deficiency |
What are the treatments for prekallikrein deficiency ? | These resources address the diagnosis or management of prekallikrein deficiency: - Genetic Testing Registry: Prekallikrein deficiency - Massachusetts General Hospital Laboratory Handbook: Prekallikrein These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... | prekallikrein deficiency |
What is (are) mitochondrial neurogastrointestinal encephalopathy disease ? | Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical... | mitochondrial neurogastrointestinal encephalopathy disease |
How many people are affected by mitochondrial neurogastrointestinal encephalopathy disease ? | The prevalence of MNGIE disease is unknown. About 70 people with this disorder have been reported. | mitochondrial neurogastrointestinal encephalopathy disease |
What are the genetic changes related to mitochondrial neurogastrointestinal encephalopathy disease ? | Mutations in the TYMP gene (previously known as ECGF1) cause MNGIE disease. This gene provides instructions for making an enzyme called thymidine phosphorylase. Thymidine is a molecule known as a nucleoside, which (after a chemical modification) is used as a building block of DNA. Thymidine phosphorylase breaks down th... | mitochondrial neurogastrointestinal encephalopathy disease |
Is mitochondrial neurogastrointestinal encephalopathy disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the TYMP 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. | mitochondrial neurogastrointestinal encephalopathy disease |
What are the treatments for mitochondrial neurogastrointestinal encephalopathy disease ? | These resources address the diagnosis or management of MNGIE disease: - Gene Review: Gene Review: Mitochondrial Neurogastrointestinal Encephalopathy Disease - Genetic Testing Registry: Myoneural gastrointestinal encephalopathy syndrome - MedlinePlus Encyclopedia: Leukoencephalopathy (image) These resources from Me... | mitochondrial neurogastrointestinal encephalopathy disease |
What is (are) fish-eye disease ? | Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the... | fish-eye disease |
How many people are affected by fish-eye disease ? | Fish-eye disease is a rare disorder. Approximately 30 cases have been reported in the medical literature. | fish-eye disease |
What are the genetic changes related to fish-eye disease ? | Fish-eye disease is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the... | fish-eye disease |
Is fish-eye 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. | fish-eye disease |
What are the treatments for fish-eye disease ? | These resources address the diagnosis or management of fish-eye disease: - Genetic Testing Registry: Fish-eye disease - MedlinePlus Encyclopedia: Corneal Transplant - Oregon Health and Science University: Corneal Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of var... | fish-eye disease |
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