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What is (are) central core disease ? | Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. This weakness affect... | central core disease |
How many people are affected by central core disease ? | Central core disease is probably an uncommon condition, although its incidence is unknown. | central core disease |
What are the genetic changes related to central core disease ? | Mutations in the RYR1 gene cause central core disease. The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions a... | central core disease |
Is central core disease inherited ? | Central core disease is most often inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases o... | central core disease |
What are the treatments for central core disease ? | These resources address the diagnosis or management of central core disease: - Gene Review: Gene Review: Central Core Disease - Genetic Testing Registry: Central core disease - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Malignant Hyperthermia These resources from MedlinePlus offer information... | central core disease |
What is (are) alkaptonuria ? | Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develo... | alkaptonuria |
How many people are affected by alkaptonuria ? | This condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic. | alkaptonuria |
What are the genetic changes related to alkaptonuria ? | Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process... | alkaptonuria |
Is alkaptonuria 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. | alkaptonuria |
What are the treatments for alkaptonuria ? | These resources address the diagnosis or management of alkaptonuria: - Gene Review: Gene Review: Alkaptonuria - Genetic Testing Registry: Alkaptonuria - MedlinePlus Encyclopedia: Alkaptonuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... | alkaptonuria |
What is (are) CHMP2B-related frontotemporal dementia ? | CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms. Changes in personality and... | CHMP2B-related frontotemporal dementia |
How many people are affected by CHMP2B-related frontotemporal dementia ? | CHMP2B-related frontotemporal dementia has been reported in one large family in Denmark and a few unrelated individuals from other countries. This disease appears to be a rare form of frontotemporal dementia. | CHMP2B-related frontotemporal dementia |
What are the genetic changes related to CHMP2B-related frontotemporal dementia ? | CHMP2B-related frontotemporal dementia results from mutations in the CHMP2B gene. This gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it plays an essential role in transporting proteins that need to be broken down (degraded). Mu... | CHMP2B-related frontotemporal dementia |
Is CHMP2B-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. | CHMP2B-related frontotemporal dementia |
What are the treatments for CHMP2B-related frontotemporal dementia ? | These resources address the diagnosis or management of CHMP2B-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: Frontotemporal Dementia, Chromosome 3-Linked - Genetic Testing Registry: Frontotemporal Dementia, Chromosome 3-Linked These resources from MedlinePlus offer informa... | CHMP2B-related frontotemporal dementia |
What is (are) Mowat-Wilson syndrome ? | Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects. Children with Mowat-Wilson syndrome h... | Mowat-Wilson syndrome |
How many people are affected by Mowat-Wilson syndrome ? | The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people with this condition have been reported in the medical literature. | Mowat-Wilson syndrome |
What are the genetic changes related to Mowat-Wilson syndrome ? | Mutations in the ZEB2 gene cause Mowat-Wilson syndrome. The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control ... | Mowat-Wilson syndrome |
Is Mowat-Wilson 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. | Mowat-Wilson syndrome |
What are the treatments for Mowat-Wilson syndrome ? | These resources address the diagnosis or management of Mowat-Wilson syndrome: - Gene Review: Gene Review: Mowat-Wilson Syndrome - Genetic Testing Registry: Mowat-Wilson syndrome - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from MedlinePlus offer information about the diagnosis and management ... | Mowat-Wilson syndrome |
What is (are) molybdenum cofactor deficiency ? | Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormali... | molybdenum cofactor deficiency |
How many people are affected by molybdenum cofactor deficiency ? | Molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have been reported in the medical literature, although it is thought that the condition is underdiagnosed, so the number of affected individuals may be higher. | molybdenum cofactor deficiency |
What are the genetic changes related to molybdenum cofactor deficiency ? | Molybdenum cofactor deficiency is caused by mutations in the MOCS1, MOCS2, or GPHN gene. There are three forms of the disorder, named types A, B, and C (or complementation groups A, B, and C). The forms have the same signs and symptoms but are distinguished by their genetic cause: MOCS1 gene mutations cause type A, MOC... | molybdenum cofactor deficiency |
Is molybdenum cofactor deficiency inherited ? | Molybdenum cofactor deficiency has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show s... | molybdenum cofactor deficiency |
What are the treatments for molybdenum cofactor deficiency ? | These resources address the diagnosis or management of molybdenum cofactor deficiency: - Genetic Testing Registry: Combined molybdoflavoprotein enzyme deficiency - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group A - Genetic Testing Registry: Molybdenum cofactor deficiency, complementa... | molybdenum cofactor deficiency |
What is (are) retinoblastoma ? | Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color. In most children with retinoblastoma, the disease affects... | retinoblastoma |
How many people are affected by retinoblastoma ? | Retinoblastoma is diagnosed in 250 to 350 children per year in the United States. It accounts for about 4 percent of all cancers in children younger than 15 years. | retinoblastoma |
What are the genetic changes related to retinoblastoma ? | Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and keeps cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so it is unabl... | retinoblastoma |
Is retinoblastoma inherited ? | Researchers estimate that 40 percent of all retinoblastomas are germinal, which means that RB1 mutations occur in all of the body's cells, including reproductive cells (sperm or eggs). People with germinal retinoblastoma may have a family history of the disease, and they are at risk of passing on the mutated RB1 gene t... | retinoblastoma |
What are the treatments for retinoblastoma ? | These resources address the diagnosis or management of retinoblastoma: - Gene Review: Gene Review: Retinoblastoma - Genetic Testing Registry: Retinoblastoma - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Retinoblastoma - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes ... | retinoblastoma |
What is (are) Alexander disease ? | Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transm... | Alexander disease |
How many people are affected by Alexander disease ? | The prevalence of Alexander disease is unknown. About 500 cases have been reported since the disorder was first described in 1949. | Alexander disease |
What are the genetic changes related to Alexander disease ? | Mutations in the GFAP gene cause Alexander disease. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. Several molecules of this protein bind together to form intermediate filaments, which provide support and strength to cells. Mutations in the GFAP gene lead to the product... | Alexander disease |
Is Alexander disease 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. Most cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Rarely, an affected person inherits the... | Alexander disease |
What are the treatments for Alexander disease ? | These resources address the diagnosis or management of Alexander disease: - Gene Review: Gene Review: Alexander Disease - Genetic Testing Registry: Alexander's disease - MedlinePlus Encyclopedia: Myelin These resources from MedlinePlus offer information about the diagnosis and management of various health conditio... | Alexander disease |
What is (are) 9q22.3 microdeletion ? | 9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, an... | 9q22.3 microdeletion |
How many people are affected by 9q22.3 microdeletion ? | 9q22.3 microdeletion appears to be a rare chromosomal change. About three dozen affected individuals have been reported in the medical literature. | 9q22.3 microdeletion |
What are the genetic changes related to 9q22.3 microdeletion ? | People with a 9q22.3 microdeletion are missing a sequence of at least 352,000 DNA building blocks (base pairs), also written as 352 kilobases (kb), in the q22.3 region of chromosome 9. This 352-kb segment is known as the minimum critical region because it is the smallest deletion that has been found to cause the signs ... | 9q22.3 microdeletion |
Is 9q22.3 microdeletion inherited ? | 9q22.3 microdeletions are inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 9 in each cell is sufficient to cause delayed development, intellectual disability, and the features of Gorlin syndrome. A 9q22.3 microdeletion most often occurs in p... | 9q22.3 microdeletion |
What are the treatments for 9q22.3 microdeletion ? | These resources address the diagnosis or management of 9q22.3 microdeletion: - Gene Review: Gene Review: 9q22.3 Microdeletion - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome These resources from Medl... | 9q22.3 microdeletion |
What is (are) Darier disease ? | Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mu... | Darier disease |
How many people are affected by Darier disease ? | The worldwide prevalence of Darier disease is unknown. The prevalence of Darier disease is estimated to be 1 in 30,000 people in Scotland, 1 in 36,000 people in northern England, and 1 in 100,000 people in Denmark. | Darier disease |
What are the genetic changes related to Darier disease ? | Mutations in the ATP2A2 gene cause Darier disease. The ATP2A2 gene provides instructions for producing an enzyme abbreviated as SERCA2. This enzyme acts as a pump that helps control the level of positively charged calcium atoms (calcium ions) inside cells, particularly in the endoplasmic reticulum and the sarcoplasmic ... | Darier disease |
Is Darier disease inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people w... | Darier disease |
What are the treatments for Darier disease ? | These resources address the diagnosis or management of Darier disease: - Genetic Testing Registry: Keratosis follicularis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co... | Darier disease |
What is (are) Proteus syndrome ? | Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with ... | Proteus syndrome |
How many people are affected by Proteus syndrome ? | Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature. Researchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overg... | Proteus syndrome |
What are the genetic changes related to Proteus syndrome ? | Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with ... | Proteus syndrome |
Is Proteus syndrome inherited ? | Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families. | Proteus syndrome |
What are the treatments for Proteus syndrome ? | These resources address the diagnosis or management of Proteus syndrome: - Gene Review: Gene Review: Proteus Syndrome - Genetic Testing Registry: Proteus syndrome - Proteus Syndrome Foundation: Diagnostic Criteria and FAQs These resources from MedlinePlus offer information about the diagnosis and management of var... | Proteus syndrome |
What is (are) thrombotic thrombocytopenic purpura ? | Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include n... | thrombotic thrombocytopenic purpura |
How many people are affected by thrombotic thrombocytopenic purpura ? | The precise incidence of thrombotic thrombocytopenic purpura is unknown. Researchers estimate that, depending on geographic location, the condition affects 1.7 to 11 per million people each year in the United States. For unknown reasons, the disorder occurs more frequently in women than in men. The acquired form of thr... | thrombotic thrombocytopenic purpura |
What are the genetic changes related to thrombotic thrombocytopenic purpura ? | Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura. The ADAMTS13 gene provides instructions for making an enzyme that is involved in the normal process of blood clotting. Mutations in this gene lead to a severe reduction in the activity of this enzyme. The acquired form of thr... | thrombotic thrombocytopenic purpura |
Is thrombotic thrombocytopenic purpura inherited ? | The familial form of thrombotic thrombocytopenic purpura 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 s... | thrombotic thrombocytopenic purpura |
What are the treatments for thrombotic thrombocytopenic purpura ? | These resources address the diagnosis or management of thrombotic thrombocytopenic purpura: - Genetic Testing Registry: Upshaw-Schulman syndrome - MedlinePlus Encyclopedia: Blood Clots - MedlinePlus Encyclopedia: Hemolytic anemia - MedlinePlus Encyclopedia: Purpura - MedlinePlus Encyclopedia: Thrombocytopenia - M... | thrombotic thrombocytopenic purpura |
What is (are) D-bifunctional protein deficiency ? | D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills. Some may... | D-bifunctional protein deficiency |
How many people are affected by D-bifunctional protein deficiency ? | D-bifunctional protein deficiency is estimated to affect 1 in 100,000 newborns. | D-bifunctional protein deficiency |
What are the genetic changes related to D-bifunctional protein deficiency ? | D-bifunctional protein deficiency is caused by mutations in the HSD17B4 gene. The protein produced from this gene (D-bifunctional protein) is an enzyme, which means that it helps specific biochemical reactions to take place. The D-bifunctional protein is found in sac-like cell structures (organelles) called peroxisomes... | D-bifunctional protein deficiency |
Is D-bifunctional protein 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. | D-bifunctional protein deficiency |
What are the treatments for D-bifunctional protein deficiency ? | These resources address the diagnosis or management of D-bifunctional protein deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Bifunctional peroxisomal enzyme deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health... | D-bifunctional protein deficiency |
What is (are) collagen VI-related myopathy ? | Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities ... | collagen VI-related myopathy |
How many people are affected by collagen VI-related myopathy ? | Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature. | collagen VI-related myopathy |
What are the genetic changes related to collagen VI-related myopathy ? | Mutations in the COL6A1, COL6A2, and COL6A3 genes can cause the various forms of collagen VI-related myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells and connective tissue... | collagen VI-related myopathy |
Is collagen VI-related myopathy inherited ? | Collagen VI-related myopathy can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Bethlem myopathy is typically inherited in an autosomal dominant manner, as are some cases of the intermediate form and a few rare instances of Ullri... | collagen VI-related myopathy |
What are the treatments for collagen VI-related myopathy ? | These resources address the diagnosis or management of collagen VI-related myopathy: - Gene Review: Gene Review: Collagen Type VI-Related Disorders - Genetic Testing Registry: Bethlem myopathy - Genetic Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy - Genetic Testing Re... | collagen VI-related myopathy |
What is (are) combined malonic and methylmalonic aciduria ? | Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated. ... | combined malonic and methylmalonic aciduria |
How many people are affected by combined malonic and methylmalonic aciduria ? | CMAMMA appears to be a rare disease. Approximately a dozen cases have been reported in the scientific literature. | combined malonic and methylmalonic aciduria |
What are the genetic changes related to combined malonic and methylmalonic aciduria ? | Mutations in the ACSF3 gene cause CMAMMA. This gene provides instructions for making an enzyme that plays a role in the formation (synthesis) of fatty acids. Fatty acids are building blocks used to make fats (lipids). The ACSF3 enzyme performs a chemical reaction that converts malonic acid to malonyl-CoA, which is the ... | combined malonic and methylmalonic aciduria |
Is combined malonic and methylmalonic aciduria 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. | combined malonic and methylmalonic aciduria |
What are the treatments for combined malonic and methylmalonic aciduria ? | These resources address the diagnosis or management of CMAMMA: - Genetic Testing Registry: Combined malonic and methylmalonic aciduria - Organic Acidemia Association: What are Organic Acidemias? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di... | combined malonic and methylmalonic aciduria |
What is (are) retroperitoneal fibrosis ? | Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. Retroperitoneal fibrosis can occu... | retroperitoneal fibrosis |
How many people are affected by retroperitoneal fibrosis ? | Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. The disorder occurs approximately twice as often in men as it does in women, but the reason for this difference is unclear. | retroperitoneal fibrosis |
What are the genetic changes related to retroperitoneal fibrosis ? | No genes associated with retroperitoneal fibrosis have been identified. Retroperitoneal fibrosis occasionally occurs with autoimmune disorders, which result when the immune system malfunctions and attacks the body's own organs and tissues. Researchers suggest that the immune system may be involved in the development o... | retroperitoneal fibrosis |
Is retroperitoneal fibrosis inherited ? | Most cases of retroperitoneal fibrosis are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In rare cases, the condition has been reported to occur in a few members of the same family, but the inheritance pattern is unknown. | retroperitoneal fibrosis |
What are the treatments for retroperitoneal fibrosis ? | These resources address the diagnosis or management of retroperitoneal fibrosis: - Johns Hopkins Medicine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Pal... | retroperitoneal fibrosis |
What is (are) holocarboxylase synthetase deficiency ? | Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. The signs and symptoms of... | holocarboxylase synthetase deficiency |
How many people are affected by holocarboxylase synthetase deficiency ? | The exact incidence of this condition is unknown, but it is estimated to affect 1 in 87,000 people. | holocarboxylase synthetase deficiency |
What are the genetic changes related to holocarboxylase synthetase deficiency ? | Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attache... | holocarboxylase synthetase deficiency |
Is holocarboxylase synthetase 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. | holocarboxylase synthetase deficiency |
What are the treatments for holocarboxylase synthetase deficiency ? | These resources address the diagnosis or management of holocarboxylase synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Holocarboxylase synthetase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources from MedlinePlus offer information about the diagnosis and mana... | holocarboxylase synthetase deficiency |
What is (are) X-linked agammaglobulinemia ? | X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called anti... | X-linked agammaglobulinemia |
How many people are affected by X-linked agammaglobulinemia ? | XLA occurs in approximately 1 in 200,000 newborns. | X-linked agammaglobulinemia |
What are the genetic changes related to X-linked agammaglobulinemia ? | Mutations in the BTK gene cause XLA. This gene provides instructions for making the BTK protein, which is important for the development of B cells and normal functioning of the immune system. Most mutations in the BTK gene prevent the production of any BTK protein. The absence of functional BTK protein blocks B cell de... | X-linked agammaglobulinemia |
Is X-linked agammaglobulinemia inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | X-linked agammaglobulinemia |
What are the treatments for X-linked agammaglobulinemia ? | These resources address the diagnosis or management of X-linked agammaglobulinemia: - Gene Review: Gene Review: X-Linked Agammaglobulinemia - Genetic Testing Registry: X-linked agammaglobulinemia - MedlinePlus Encyclopedia: Agammaglobulinemia These resources from MedlinePlus offer information about the diagnosis a... | X-linked agammaglobulinemia |
What is (are) DICER1 syndrome ? | DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tu... | DICER1 syndrome |
How many people are affected by DICER1 syndrome ? | DICER1 syndrome is a rare condition; its prevalence is unknown. | DICER1 syndrome |
What are the genetic changes related to DICER1 syndrome ? | DICER1 syndrome is caused by mutations in the DICER1 gene. This gene provides instructions for making a protein that is involved in the production of molecules called microRNA (miRNA). MicroRNA is a type of RNA, a chemical cousin of DNA, that attaches to a protein's blueprint (a molecule called messenger RNA) and block... | DICER1 syndrome |
Is DICER1 syndrome inherited ? | DICER1 syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. It is important to note that people inherit an increased risk of tumors; many people who have mutations in the DICER1 gene do not develop abnormal growths. | DICER1 syndrome |
What are the treatments for DICER1 syndrome ? | These resources address the diagnosis or management of DICER1 syndrome: - Cancer.Net from the American Society of Clinical Oncology: Pleuropulmonary Blastoma--Childhood Treatment - Gene Review: Gene Review: DICER1-Related Disorders - Genetic Testing Registry: Pleuropulmonary blastoma These resources from MedlinePl... | DICER1 syndrome |
What is (are) RAPADILINO syndrome ? | RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition. Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malf... | RAPADILINO syndrome |
How many people are affected by RAPADILINO syndrome ? | RAPADILINO syndrome is a rare condition, although its worldwide prevalence is unknown. The condition was first identified in Finland, where it affects an estimated 1 in 75,000 individuals, although it has since been found in other regions. | RAPADILINO syndrome |
What are the genetic changes related to RAPADILINO syndrome ? | Mutations in the RECQL4 gene cause RAPADILINO syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (repli... | RAPADILINO syndrome |
Is RAPADILINO 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. | RAPADILINO syndrome |
What are the treatments for RAPADILINO syndrome ? | These resources address the diagnosis or management of RAPADILINO syndrome: - Genetic Testing Registry: Rapadilino syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ... | RAPADILINO syndrome |
What is (are) PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10. Problems with balance and coordination (ataxia) are usually the first ... | PRICKLE1-related progressive myoclonus epilepsy with ataxia |
How many people are affected by PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | The prevalence of PRICKLE1-related progressive myoclonus epilepsy with ataxia is unknown. The condition has been reported in three large families from Jordan and northern Israel and in at least two unrelated individuals. | PRICKLE1-related progressive myoclonus epilepsy with ataxia |
What are the genetic changes related to PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | PRICKLE1-related progressive myoclonus epilepsy with ataxia is caused by mutations in the PRICKLE1 gene. This gene provides instructions for making a protein called prickle homolog 1, whose function is unknown. Studies suggest that it interacts with other proteins that are critical for brain development and function. ... | PRICKLE1-related progressive myoclonus epilepsy with ataxia |
Is PRICKLE1-related progressive myoclonus epilepsy with ataxia inherited ? | Some cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are 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 no... | PRICKLE1-related progressive myoclonus epilepsy with ataxia |
What are the treatments for PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia: - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia These resources from MedlinePlus offer in... | PRICKLE1-related progressive myoclonus epilepsy with ataxia |
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