qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
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genetic changes | What are the genetic changes related to Werner syndrome ? | Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of copying (replicating) DNA in preparation for cell division. Mutations ... |
inheritance | Is Werner syndrome inherited ? | Werner syndrome is inherited in an autosomal recessive pattern, which means both copies of the WRN gene in each cell have mutations. The parents of an individual with Werner syndrome 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 Werner syndrome ? | These resources address the diagnosis or management of Werner syndrome: - Gene Review: Gene Review: Werner Syndrome - Genetic Testing Registry: Werner syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - S... |
information | What is (are) X-linked infantile spasm syndrome ? | X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (som... |
frequency | How many people are affected by X-linked infantile spasm syndrome ? | Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. This estimate includes X-linked infantile spasm syndrome as well as infantile spasms that have other causes. |
genetic changes | What are the genetic changes related to X-linked infantile spasm syndrome ? | X-linked infantile spasm syndrome is caused by mutations in either the ARX gene or the CDKL5 gene. The proteins produced from these genes play a role in the normal functioning of the brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The CDKL5 protein is thought to... |
inheritance | Is X-linked infantile spasm syndrome inherited ? | X-linked infantile spasm syndrome can have different inheritance patterns depending on the genetic cause. When caused by mutations in the ARX gene, this condition is inherited in an X-linked recessive pattern. The ARX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only... |
treatment | What are the treatments for X-linked infantile spasm syndrome ? | These resources address the diagnosis or management of X-linked infantile spasm syndrome: - Child Neurology Foundation - Genetic Testing Registry: Early infantile epileptic encephalopathy 2 - Genetic Testing Registry: West syndrome These resources from MedlinePlus offer information about the diagnosis and manageme... |
information | What is (are) Knobloch syndrome ? | Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal d... |
frequency | How many people are affected by Knobloch syndrome ? | Knobloch syndrome is a rare condition. However, the exact prevalence of the condition is unknown. |
genetic changes | What are the genetic changes related to Knobloch syndrome ? | Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII, which is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues. ... |
inheritance | Is Knobloch 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 Knobloch syndrome ? | These resources address the diagnosis or management of Knobloch syndrome: - American Academy of Ophthalmology: Eye Smart - Genetic Testing Registry: Knobloch syndrome 1 - JAMA Patient Page: Retinal Detachment - National Eye Institute: Facts About Retinal Detachment - Prevent Blindness America: Retinal Tears and De... |
information | What is (are) Stevens-Johnson syndrome/toxic epidermal necrolysis ? | Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome repr... |
frequency | How many people are affected by Stevens-Johnson syndrome/toxic epidermal necrolysis ? | SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. Stevens-Johnson syndrome (the less severe form of the condition) is more common than toxic epidermal necrolysis. People who are HIV-positive and those with a chronic inflammatory disease called systemic lupus erythematosus are more likely to dev... |
genetic changes | What are the genetic changes related to Stevens-Johnson syndrome/toxic epidermal necrolysis ? | Several genetic changes have been found to increase the risk of SJS/TEN in response to triggering factors such as medications. Most of these changes occur in genes that are involved in the normal function of the immune system. The genetic variations most strongly associated with SJS/TEN occur in the HLA-B gene. This g... |
inheritance | Is Stevens-Johnson syndrome/toxic epidermal necrolysis inherited ? | SJS/TEN is not an inherited condition. However, the genetic changes that increase the risk of developing SJS/TEN can be passed from one generation to the next. |
treatment | What are the treatments for Stevens-Johnson syndrome/toxic epidermal necrolysis ? | These resources address the diagnosis or management of Stevens-Johnson syndrome/toxic epidermal necrolysis: - Genetic Testing Registry: Stevens-Johnson syndrome - Genetic Testing Registry: Toxic epidermal necrolysis These resources from MedlinePlus offer information about the diagnosis and management of various hea... |
information | What is (are) benign recurrent intrahepatic cholestasis ? | Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is de... |
frequency | How many people are affected by benign recurrent intrahepatic cholestasis ? | BRIC is a rare disorder. Although the prevalence is unknown, this condition is less common than the related disorder PFIC, which affects approximately 1 in 50,000 to 100,000 people worldwide. |
genetic changes | What are the genetic changes related to benign recurrent intrahepatic cholestasis ? | Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type 1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). These two genes are involved in the release (secretion) of bile, a fluid produced by the liver that helps digest fats. The ATP8B1... |
inheritance | Is benign recurrent intrahepatic cholestasis inherited ? | Both types of BRIC 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 not show signs and symptoms of the condition. Some peopl... |
treatment | What are the treatments for benign recurrent intrahepatic cholestasis ? | These resources address the diagnosis or management of benign recurrent intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Benign recurrent intrahepatic cholestasis 1 - Genetic Testing Registry: Benign recurrent intrahepatic cholestasis 2 - Merck Manual Home Health E... |
information | What is (are) Wilson disease ? | Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition ... |
frequency | How many people are affected by Wilson disease ? | Wilson disease is a rare disorder that affects approximately 1 in 30,000 individuals. |
genetic changes | What are the genetic changes related to Wilson disease ? | Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in exc... |
inheritance | Is Wilson disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Wilson disease ? | These resources address the diagnosis or management of Wilson disease: - Gene Review: Gene Review: Wilson Disease - Genetic Testing Registry: Wilson's disease - MedlinePlus Encyclopedia: Wilson's disease - National Human Genome Research Institute These resources from MedlinePlus offer information about the diagno... |
information | What is (are) beta thalassemia ? | Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individua... |
frequency | How many people are affected by beta thalassemia ? | Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia. |
genetic changes | What are the genetic changes related to beta thalassemia ? | Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin. Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin. ... |
inheritance | Is beta thalassemia inherited ? | Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB 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... |
treatment | What are the treatments for beta thalassemia ? | These resources address the diagnosis or management of beta thalassemia: - Gene Review: Gene Review: Beta-Thalassemia - Genetic Testing Registry: Beta-thalassemia, dominant inclusion body type - Genetic Testing Registry: beta Thalassemia - MedlinePlus Encyclopedia: Thalassemia These resources from MedlinePlus off... |
information | What is (are) esophageal atresia/tracheoesophageal fistula ? | Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adja... |
frequency | How many people are affected by esophageal atresia/tracheoesophageal fistula ? | EA/TEF occurs in 1 in 3,000 to 5,000 newborns. |
genetic changes | What are the genetic changes related to esophageal atresia/tracheoesophageal fistula ? | Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause. Non-isolated... |
inheritance | Is esophageal atresia/tracheoesophageal fistula inherited ? | When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition. Often EA/TEF is not inherited, and there is only one affected individual in a family. |
treatment | What are the treatments for esophageal atresia/tracheoesophageal fistula ? | These resources address the diagnosis or management of EA/TEF: - Boston Children's Hospital: Esophageal Atresia - Children's Hospital of Wisconsin - Gene Review: Gene Review: Esophageal Atresia/Tracheoesophageal Fistula Overview - Genetic Testing Registry: Tracheoesophageal fistula - MedlinePlus Encyclopedia: Trac... |
information | What is (are) PDGFRB-associated chronic eosinophilic leukemia ? | PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. Howe... |
frequency | How many people are affected by PDGFRB-associated chronic eosinophilic leukemia ? | The exact prevalence of PDGFRB-associated chronic eosinophilic leukemia is unknown. For unknown reasons, males are up to nine times more likely than females to develop PDGFRB-associated chronic eosinophilic leukemia. |
genetic changes | What are the genetic changes related to PDGFRB-associated chronic eosinophilic leukemia ? | PDGFRB-associated chronic eosinophilic leukemia is caused by genetic rearrangements that join part of the PDGFRB gene with part of another gene. At least 20 genes have been found that fuse with the PDGFRB gene to cause PDGFRB-associated chronic eosinophilic leukemia. The most common genetic abnormality in this conditio... |
inheritance | Is PDGFRB-associated chronic eosinophilic leukemia inherited ? | PDGFRB-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Chromosomal rearrangements that lead to a PDGFRB fusion gene are somatic mutations, which are mutations acquired during a person's lifetime and present only in certain cells. The som... |
treatment | What are the treatments for PDGFRB-associated chronic eosinophilic leukemia ? | These resources address the diagnosis or management of PDGFRB-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia--Eosinophilic: Treatment - Genetic Testing Registry: Myeloproliferative disorder, chronic, with eosinophilia - MedlinePlus Encyclopedia: Eosinophil Count--Absolute - Seattle Cancer Care All... |
information | What is (are) androgen insensitivity syndrome ? | Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may h... |
frequency | How many people are affected by androgen insensitivity syndrome ? | Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people who are genetically male. Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. Mild androgen insensitivity is much less common. |
genetic changes | What are the genetic changes related to androgen insensitivity syndrome ? | Mutations in the AR gene cause androgen insensitivity syndrome. This gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. Androgens and androgen receptors also h... |
inheritance | Is androgen insensitivity syndrome inherited ? | This condition is inherited in an X-linked recessive 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 genetic males (who have only one X chromosome), one altered copy of the gene in each cell is suffi... |
treatment | What are the treatments for androgen insensitivity syndrome ? | These resources address the diagnosis or management of androgen insensitivity syndrome: - Gene Review: Gene Review: Androgen Insensitivity Syndrome - Genetic Testing Registry: Androgen resistance syndrome - MedlinePlus Encyclopedia: Androgen Insensitivity Syndrome - MedlinePlus Encyclopedia: Intersex - MedlinePlus... |
information | What is (are) spondyloenchondrodysplasia with immune dysregulation ? | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence. Bone abnormalities in individuals with SPENCDI include flattened spinal bone... |
frequency | How many people are affected by spondyloenchondrodysplasia with immune dysregulation ? | SPENCDI appears to be a rare condition, although its prevalence is unknown. |
genetic changes | What are the genetic changes related to spondyloenchondrodysplasia with immune dysregulation ? | Mutations in the ACP5 gene cause SPENCDI. This gene provides instructions for making an enzyme called tartrate-resistant acid phosphatase type 5 (TRAP). The TRAP enzyme primarily regulates the activity of a protein called osteopontin, which is produced in bone cells called osteoclasts and in immune cells. Osteopontin p... |
inheritance | Is spondyloenchondrodysplasia with immune dysregulation 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 spondyloenchondrodysplasia with immune dysregulation ? | These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) oculodentodigital dysplasia ? | Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequen... |
frequency | How many people are affected by oculodentodigital dysplasia ? | The exact incidence of oculodentodigital dysplasia is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed. |
genetic changes | What are the genetic changes related to oculodentodigital dysplasia ? | Mutations in the GJA1 gene cause oculodentodigital dysplasia. The GJA1 gene provides instructions for making a protein called connexin43. This protein forms one part (a subunit) of channels called gap junctions, which allow direct communication between cells. Gap junctions formed by connexin43 proteins are found in man... |
inheritance | Is oculodentodigital dysplasia inherited ? | Most cases of oculodentodigital dysplasia are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occ... |
treatment | What are the treatments for oculodentodigital dysplasia ? | These resources address the diagnosis or management of oculodentodigital dysplasia: - Genetic Testing Registry: Oculodentodigital dysplasia - MedlinePlus Encyclopedia: Webbing of the fingers or toes - UC Davis Children's Hospital: Cleft and Craniofacial Reconstruction These resources from MedlinePlus offer informa... |
information | What is (are) cone-rod dystrophy ? | Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina grad... |
frequency | How many people are affected by cone-rod dystrophy ? | Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals. |
genetic changes | What are the genetic changes related to cone-rod dystrophy ? | Mutations in approximately 30 genes are known to cause cone-rod dystrophy. Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting f... |
inheritance | Is cone-rod dystrophy inherited ? | Cone-rod dystrophy 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. Les... |
treatment | What are the treatments for cone-rod dystrophy ? | These resources address the diagnosis or management of cone-rod dystrophy: - Cleveland Clinic: Eye Examinations: What to Expect - Genetic Testing Registry: CONE-ROD DYSTROPHY, AIPL1-RELATED - Genetic Testing Registry: Cone-rod dystrophy - Genetic Testing Registry: Cone-rod dystrophy 1 - Genetic Testing Registry: C... |
information | What is (are) multiple endocrine neoplasia ? | Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves... |
frequency | How many people are affected by multiple endocrine neoplasia ? | Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. Type 2B is relatively uncommon, accounting for about 5 percent of all cases of type 2. The p... |
genetic changes | What are the genetic changes related to multiple endocrine neoplasia ? | Mutations in the MEN1, RET, and CDKN1B genes can cause multiple endocrine neoplasia. Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividin... |
inheritance | Is multiple endocrine neoplasia inherited ? | Most cases of multiple endocrine neoplasia type 1 are considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the MEN1 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new mu... |
treatment | What are the treatments for multiple endocrine neoplasia ? | These resources address the diagnosis or management of multiple endocrine neoplasia: - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 1 - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 2 - Genetic Testing Registry: Familial medullary thyroid carcinoma - Genetic Testing Registry: Multiple e... |
information | What is (are) isovaleric acidemia ? | Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urin... |
frequency | How many people are affected by isovaleric acidemia ? | Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in the United States. |
genetic changes | What are the genetic changes related to isovaleric acidemia ? | Mutations in the IVD gene cause isovaleric acidemia. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eli... |
inheritance | Is isovaleric acidemia 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 isovaleric acidemia ? | These resources address the diagnosis or management of isovaleric acidemia: - Baby's First Test - Genetic Testing Registry: Isovaleryl-CoA dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... |
information | What is (are) activated PI3K-delta syndrome ? | Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. Beginn... |
frequency | How many people are affected by activated PI3K-delta syndrome ? | The prevalence of activated PI3K-delta syndrome is unknown. |
genetic changes | What are the genetic changes related to activated PI3K-delta syndrome ? | Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110). This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which turns on signaling pathways within cells. The version of PI3K containing... |
inheritance | Is activated PI3K-delta 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 activated PI3K-delta syndrome ? | These resources address the diagnosis or management of activated PI3K-delta syndrome: - Genetic Testing Registry: Activated PI3K-delta syndrome - National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking To Your Doctor These resources from MedlinePlus offer information about... |
information | What is (are) mucopolysaccharidosis type II ? | Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. At birth, individuals with MPS II ... |
frequency | How many people are affected by mucopolysaccharidosis type II ? | MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males. |
genetic changes | What are the genetic changes related to mucopolysaccharidosis type II ? | Mutations in the IDS gene cause MPS II. The IDS gene provides instructions for producing the I2S enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDS gene r... |
inheritance | Is mucopolysaccharidosis type II 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 mucopolysaccharidosis type II ? | These resources address the diagnosis or management of mucopolysaccharidosis type II: - Baby's First Test - Gene Review: Gene Review: Mucopolysaccharidosis Type II - Genetic Testing Registry: Mucopolysaccharidosis, MPS-II - MedlinePlus Encyclopedia: Hunter syndrome - MedlinePlus Encyclopedia: Mucopolysaccharides ... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) factor V deficiency ? | Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding foll... |
frequency | How many people are affected by factor V deficiency ? | Factor V deficiency affects an estimated 1 in 1 million people. This condition is more common in countries such as Iran and southern India, where it occurs up to ten times more frequently than in western countries. |
genetic changes | What are the genetic changes related to factor V deficiency ? | Factor V deficiency is usually caused by mutations in the F5 gene, which provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. F5 gene mutations that caus... |
inheritance | Is factor V deficiency inherited ? | Factor V deficiency is inherited in an autosomal recessive pattern, which means both copies of the F5 gene in each cell have mutations. Individuals with a mutation in a single copy of the F5 gene have a reduced amount of coagulation factor V in their blood and can have mild bleeding problems, although most have no rela... |
treatment | What are the treatments for factor V deficiency ? | These resources address the diagnosis or management of factor V deficiency: - Genetic Testing Registry: Factor V deficiency - MedlinePlus Encyclopedia: Factor V Deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... |
information | What is (are) X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (... |
frequency | How many people are affected by X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 has been estimated to affect fewer than 1 in 400,000 newborns. However, the disorder may actually be more common than this estimate because it is likely underdiagnosed, particularly in females with mild signs and symptoms. More than 95 percent of cases of X-linked chondrodysplasia ... |
genetic changes | What are the genetic changes related to X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. This gene provides instructions for making an enzyme called 3-hydroxysteroid-8,7-isomerase, which is responsible for one of the final steps in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the bod... |
inheritance | Is X-linked chondrodysplasia punctata 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 EBP gene in each cell is sufficient to cause the disorder. Som... |
treatment | What are the treatments for X-linked chondrodysplasia punctata 2 ? | These resources address the diagnosis or management of X-linked chondrodysplasia punctata 2: - Gene Review: Gene Review: Chondrodysplasia Punctata 2, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 2 X-linked dominant These resources from MedlinePlus offer information about the diagnosis and manageme... |
information | What is (are) familial idiopathic basal ganglia calcification ? | Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement;... |
frequency | How many people are affected by familial idiopathic basal ganglia calcification ? | FIBGC is thought to be a rare disorder; about 60 affected families have been described in the medical literature. However, because brain imaging tests are needed to recognize the calcium deposits, this condition is believed to be underdiagnosed. |
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