qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
|---|---|---|
genetic changes | What are the genetic changes related to otopalatodigital syndrome type 2 ? | Mutations in the FLNA gene cause otopalatodigital syndrome type 2. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called... |
inheritance | Is otopalatodigital syndrome type 2 inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In male... |
treatment | What are the treatments for otopalatodigital syndrome type 2 ? | These resources address the diagnosis or management of otopalatodigital syndrome type 2: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type II These resources from MedlinePlus offer information about the diagnosis and management of various h... |
information | What is (are) sialic acid storage disease ? | Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and ... |
frequency | How many people are affected by sialic acid storage disease ? | Sialic acid storage disease is a very rare disorder. ISSD has been identified in only a few dozen infants worldwide. Salla disease occurs mainly in Finland and Sweden and has been reported in approximately 150 people. A few individuals have been identified as having intermediate severe Salla disease. |
genetic changes | What are the genetic changes related to sialic acid storage disease ? | Mutations in the SLC17A5 gene cause all forms of sialic acid storage disease. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. Sialin moves a molecule called free sialic acid, which is ... |
inheritance | Is sialic acid storage disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for sialic acid storage disease ? | These resources address the diagnosis or management of sialic acid storage disease: - Gene Review: Gene Review: Free Sialic Acid Storage Disorders - Genetic Testing Registry: Salla disease - Genetic Testing Registry: Sialic acid storage disease, severe infantile type These resources from MedlinePlus offer informat... |
information | What is (are) familial dilated cardiomyopathy ? | Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. Eventually, all... |
frequency | How many people are affected by familial dilated cardiomyopathy ? | It is estimated that 750,000 people in the United States have dilated cardiomyopathy; roughly half of these cases are familial. |
genetic changes | What are the genetic changes related to familial dilated cardiomyopathy ? | Mutations in more than 30 genes have been found to cause familial dilated cardiomyopathy. These genes provide instructions for making proteins that are found in cardiac muscle cells called cardiomyocytes. Many of these proteins play important roles in the contraction of the cardiac muscle through their association wit... |
inheritance | Is familial dilated cardiomyopathy inherited ? | Familial dilated cardiomyopathy has different inheritance patterns depending on the gene involved. In 80 to 90 percent of cases, familial dilated cardiomyopathy 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 af... |
treatment | What are the treatments for familial dilated cardiomyopathy ? | These resources address the diagnosis or management of familial dilated cardiomyopathy: - Cincinnati Children's Hospital - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Gene Review: Gene Review: LMNA-Related Dilated Cardiomyopathy - MedlinePlus Encyclope... |
information | What is (are) retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries ... |
frequency | How many people are affected by retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | RAMSVPS is a rare disorder. Only a small number of affected individuals and families, all from Saudi Arabia, have been described in the medical literature. |
genetic changes | What are the genetic changes related to retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). It is thought to help stop a pathway called BRAF signaling, which... |
inheritance | Is retinal arterial macroaneurysm with supravalvular pulmonic stenosis 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. |
treatment | What are the treatments for retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | These resources address the diagnosis or management of RAMSVPS: - Calgary Retina Consultants: Retinal Arterial Macroaneurysm - Genetic Testing Registry: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis - MedlinePlus Encyclopedia: Fluorescein Angiography - University of Rochester Medical Center: P... |
information | What is (are) oral-facial-digital syndrome ? | Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by the... |
frequency | How many people are affected by oral-facial-digital syndrome ? | Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. The other forms of oral-facial-digital syndrome are very rare; most have been identified in only one or a few families. |
genetic changes | What are the genetic changes related to oral-facial-digital syndrome ? | Only one gene, OFD1, has been associated with oral-facial-digital syndrome. Mutations in this gene cause oral-facial-digital syndrome type I. OFD1 gene mutations were also found in an affected family whose disorder was classified as type VII; however, researchers now believe that type VII is the same as type I. The OF... |
inheritance | Is oral-facial-digital syndrome inherited ? | Oral-facial-digital syndrome type I is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause ... |
treatment | What are the treatments for oral-facial-digital syndrome ? | These resources address the diagnosis or management of oral-facial-digital syndrome: - Gene Review: Gene Review: Oral-Facial-Digital Syndrome Type I - Genetic Testing Registry: Mohr syndrome - Genetic Testing Registry: Oral-facial-digital syndrome - Genetic Testing Registry: Orofacial-digital syndrome III - Geneti... |
information | What is (are) congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("H... |
frequency | How many people are affected by congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? | CHILD syndrome is a rare disorder; it has been reported in about 60 people worldwide. This condition occurs almost exclusively in females. |
genetic changes | What are the genetic changes related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? | Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Alth... |
inheritance | Is congenital hemidysplasia with ichthyosiform erythroderma and limb defects inherited ? | This condition has an X-linked dominant pattern of inheritance. 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. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. ... |
treatment | What are the treatments for congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? | These resources address the diagnosis or management of CHILD syndrome: - Gene Review: Gene Review: NSDHL-Related Disorders - Genetic Testing Registry: Child syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... |
information | What is (are) hereditary hemorrhagic telangiectasia ? | Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through t... |
frequency | How many people are affected by hereditary hemorrhagic telangiectasia ? | The incidence of hereditary hemorrhagic telangiectasia is difficult to determine because the severity of symptoms can vary widely and some symptoms, such as frequent nosebleeds, are common in the general population. In addition, arteriovenous malformations may be associated with other medical conditions. Hereditary hem... |
genetic changes | What are the genetic changes related to hereditary hemorrhagic telangiectasia ? | Mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia. Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the gene ENG. Type 2 is caused by mutations in the gene ACVRL1. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in t... |
inheritance | Is hereditary hemorrhagic telangiectasia 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. |
treatment | What are the treatments for hereditary hemorrhagic telangiectasia ? | These resources address the diagnosis or management of hereditary hemorrhagic telangiectasia: - Gene Review: Gene Review: Hereditary Hemorrhagic Telangiectasia - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 2 - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 3 - Genetic ... |
information | What is (are) mitochondrial membrane protein-associated neurodegeneration ? | Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time. MPAN commonly begins with difficulty walking. As the condition progresses, affected individuals usually develop othe... |
frequency | How many people are affected by mitochondrial membrane protein-associated neurodegeneration ? | MPAN is a rare condition that is estimated to affect less than 1 in 1 million people. |
genetic changes | What are the genetic changes related to mitochondrial membrane protein-associated neurodegeneration ? | Mutations in the C19orf12 gene cause MPAN. The protein produced from this gene is found in the membrane of cellular structures called mitochondria, which are the energy-producing centers of the cell. Although its function is unknown, researchers suggest that the C19orf12 protein plays a role in the maintenance of fat (... |
inheritance | Is mitochondrial membrane protein-associated neurodegeneration 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. |
treatment | What are the treatments for mitochondrial membrane protein-associated neurodegeneration ? | These resources address the diagnosis or management of mitochondrial membrane protein-associated neurodegeneration: - Gene Review: Gene Review: Mitochondrial Membrane Protein-Associated Neurodegeneration - Gene Review: Gene Review: Neurodegeneration with Brain Iron Accumulation Disorders Overview - Genetic Testing R... |
information | What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune ... |
frequency | How many people are affected by T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare disorder. It has been diagnosed in only a few individuals, almost all of whom are members of a large extended family from a community in southern Italy. |
genetic changes | What are the genetic changes related to T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy results from mutations in the FOXN1 gene. This gene provides instructions for making a protein that is important for development of the skin, hair, nails, and immune system. Studies suggest that this protein helps guide the formation of hair follicles and... |
inheritance | Is T-cell immunodeficiency, congenital alopecia, and nail 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. However, some pe... |
treatment | What are the treatments for T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | These resources address the diagnosis or management of T-cell immunodeficiency, congenital alopecia, and nail dystrophy: - Be The Match: What is a Bone Marrow Transplant? - Genetic Testing Registry: T-cell immunodeficiency, congenital alopecia and nail dystrophy - MedlinePlus Encyclopedia: Bone Marrow Transplant T... |
information | What is (are) Alpers-Huttenlocher syndrome ? | Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children betwee... |
frequency | How many people are affected by Alpers-Huttenlocher syndrome ? | The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in 100,000 individuals. |
genetic changes | What are the genetic changes related to Alpers-Huttenlocher syndrome ? | Alpers-Huttenlocher syndrome is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells c... |
inheritance | Is Alpers-Huttenlocher 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. |
treatment | What are the treatments for Alpers-Huttenlocher syndrome ? | These resources address the diagnosis or management of Alpers-Huttenlocher syndrome: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Progressive sclerosing poliodystrophy - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus of... |
information | What is (are) X-linked sideroblastic anemia and ataxia ? | X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males. Sideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin, which i... |
frequency | How many people are affected by X-linked sideroblastic anemia and ataxia ? | X-linked sideroblastic anemia and ataxia is a rare disorder; only a few affected families have been reported. |
genetic changes | What are the genetic changes related to X-linked sideroblastic anemia and ataxia ? | Mutations in the ABCB7 gene cause X-linked sideroblastic anemia and ataxia. The ABCB7 gene provides instructions for making a protein that is critical for heme production. Heme is a component of the hemoglobin protein, which is vital for supplying oxygen to the entire body. The ABCB7 protein also plays a role in the fo... |
inheritance | Is X-linked sideroblastic anemia and ataxia 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... |
treatment | What are the treatments for X-linked sideroblastic anemia and ataxia ? | These resources address the diagnosis or management of X-linked sideroblastic anemia and ataxia: - Gene Review: Gene Review: X-Linked Sideroblastic Anemia and Ataxia - Genetic Testing Registry: Anemia sideroblastic and spinocerebellar ataxia - MedlinePlus Encyclopedia: Anemia These resources from MedlinePlus offer... |
information | What is (are) pulmonary arterial hypertension ? | Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary... |
frequency | How many people are affected by pulmonary arterial hypertension ? | In the United States, about 1,000 new cases of pulmonary arterial hypertension are diagnosed each year. This disorder is twice as common in females as in males. |
genetic changes | What are the genetic changes related to pulmonary arterial hypertension ? | Mutations in the BMPR2 gene are the most common genetic cause of pulmonary arterial hypertension. This gene plays a role in regulating the number of cells in certain tissues. Researchers suggest that a mutation in this gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arte... |
inheritance | Is pulmonary arterial hypertension inherited ? | Pulmonary arterial hypertension is usually sporadic, which means it occurs in individuals with no known family history of the disorder. These non-familial cases are described as idiopathic pulmonary arterial hypertension. About 20 percent of these cases are caused by mutations in one of the genes known to be associated... |
treatment | What are the treatments for pulmonary arterial hypertension ? | These resources address the diagnosis or management of pulmonary arterial hypertension: - Gene Review: Gene Review: Heritable Pulmonary Arterial Hypertension - Genetic Testing Registry: Primary pulmonary hypertension - Genetic Testing Registry: Primary pulmonary hypertension 2 - Genetic Testing Registry: Primary pu... |
information | What is (are) systemic scleroderma ? | Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibro... |
frequency | How many people are affected by systemic scleroderma ? | The prevalence of systemic scleroderma is estimated to range from 50 to 300 cases per 1 million people. For reasons that are unknown, women are four times more likely to develop the condition than men. |
genetic changes | What are the genetic changes related to systemic scleroderma ? | Researchers have identified variations in several genes that may influence the risk of developing systemic scleroderma. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from protei... |
inheritance | Is systemic scleroderma inherited ? | Most cases of systemic scleroderma are sporadic, which means they occur in people with no history of the condition in their family. However, some people with systemic scleroderma have close relatives with other autoimmune disorders. A small percentage of all cases of systemic scleroderma have been reported to run in f... |
treatment | What are the treatments for systemic scleroderma ? | These resources address the diagnosis or management of systemic scleroderma: - Cedars-Sinai Medical Center - Genetic Testing Registry: Scleroderma, familial progressive - University of Maryland Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health co... |
information | What is (are) Denys-Drash syndrome ? | Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the ti... |
frequency | How many people are affected by Denys-Drash syndrome ? | The prevalence of Denys-Drash syndrome is unknown; at least 150 affected individuals have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to Denys-Drash syndrome ? | Mutations in the WT1 gene cause Denys-Drash syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the d... |
inheritance | Is Denys-Drash 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. |
treatment | What are the treatments for Denys-Drash syndrome ? | These resources address the diagnosis or management of Denys-Drash syndrome: - Gene Review: Gene Review: Wilms Tumor Overview - Genetic Testing Registry: Drash syndrome - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various he... |
information | What is (are) congenital insensitivity to pain ? | Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a ... |
frequency | How many people are affected by congenital insensitivity to pain ? | Congenital insensitivity to pain is a rare condition; about 20 cases have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to congenital insensitivity to pain ? | Mutations in the SCN9A gene cause congenital insensitivity to pain. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and t... |
inheritance | Is congenital insensitivity to pain 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. |
treatment | What are the treatments for congenital insensitivity to pain ? | These resources address the diagnosis or management of congenital insensitivity to pain: - Genetic Testing Registry: Indifference to pain, congenital, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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... |
treatment | 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... |
information | What is (are) TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-... |
frequency | How many people are affected by TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | The prevalence of TK2-MDS is unknown. Approximately 45 cases have been described. |
genetic changes | What are the genetic changes related to TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | As the condition name suggests, mutations in the TK2 gene cause TK2-MDS. The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues. Mitochondria are involved in a wide variety of cellular activities, includ... |
inheritance | Is TK2-related mitochondrial DNA depletion syndrome, myopathic form 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. |
treatment | What are the treatments for TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | These resources address the diagnosis or management of TK2-related mitochondrial DNA depletion syndrome, myopathic form: - Cincinnati Children's Hospital: Mitochondrial Diseases Program - Gene Review: Gene Review: TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form These resources from MedlinePlus offe... |
information | What is (are) Brooke-Spiegler syndrome ? | Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, an... |
frequency | How many people are affected by Brooke-Spiegler syndrome ? | Brooke-Spiegler syndrome is a rare disorder; its prevalence is unknown. |
genetic changes | What are the genetic changes related to Brooke-Spiegler syndrome ? | Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating... |
inheritance | Is Brooke-Spiegler syndrome inherited ? | Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. |
treatment | What are the treatments for Brooke-Spiegler syndrome ? | These resources address the diagnosis or management of Brooke-Spiegler syndrome: - Genetic Testing Registry: Spiegler-Brooke syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ... |
information | What is (are) late-infantile neuronal ceroid lipofuscinosis ? | Late-infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (a... |
frequency | How many people are affected by late-infantile neuronal ceroid lipofuscinosis ? | The prevalence of late-infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected. |
genetic changes | What are the genetic changes related to late-infantile neuronal ceroid lipofuscinosis ? | Mutations in the TPP1 gene cause most cases of late-infantile NCL. Mutations in the CLN5, CLN6, CLN8, MFSD8, and PPT1 genes each account for a small percentage of cases. The TPP1 gene produces an enzyme called tripeptidyl peptidase 1. This enzyme is found in cell structures called lysosomes, which digest and recycle d... |
inheritance | Is late-infantile neuronal ceroid lipofuscinosis 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. |
treatment | What are the treatments for late-infantile neuronal ceroid lipofuscinosis ? | These resources address the diagnosis or management of late-infantile neuronal ceroid lipofuscinosis: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 5 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 6 - Genetic Testing Registry: Ceroi... |
information | What is (are) ataxia neuropathy spectrum ? | Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessi... |
frequency | How many people are affected by ataxia neuropathy spectrum ? | The prevalence of ataxia neuropathy spectrum is unknown. |
genetic changes | What are the genetic changes related to ataxia neuropathy spectrum ? | Ataxia neuropathy spectrum is caused by mutations in the POLG gene or, rarely, the C10orf2 gene. The POLG gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). The C10orf2 gene provides instructions for making a protein called Twinkle. Pol and Twinkle function... |
inheritance | Is ataxia neuropathy spectrum inherited ? | Ataxia neuropathy spectrum can have different inheritance patterns depending on the associated gene. Mutations in the POLG gene cause a form of the condition that 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 autoso... |
treatment | What are the treatments for ataxia neuropathy spectrum ? | These resources address the diagnosis or management of ataxia neuropathy spectrum: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - National Ataxia Foundation: Gene Testing for Hereditary Ataxia - United Mitochondrial Diseas... |
information | What is (are) pilomatricoma ? | Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pi... |
frequency | How many people are affected by pilomatricoma ? | Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but pilomatricoma probably accounts for less than 1 percent of all benign skin tumors. |
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