qtype stringclasses 16
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genetic changes | What are the genetic changes related to Clouston syndrome ? | Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions, which permit the transport of nutr... |
inheritance | Is Clouston 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. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... |
treatment | What are the treatments for Clouston syndrome ? | These resources address the diagnosis or management of Clouston syndrome: - Gene Review: Gene Review: Hidrotic Ectodermal Dysplasia 2 - Genetic Testing Registry: Hidrotic ectodermal dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... |
information | What is (are) familial hypertrophic cardiomyopathy ? | Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (th... |
frequency | How many people are affected by familial hypertrophic cardiomyopathy ? | Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States. |
genetic changes | What are the genetic changes related to familial hypertrophic cardiomyopathy ? | Mutations in one of several genes can cause familial hypertrophic cardiomyopathy; the most commonly involved genes are MYH7, MYBPC3, TNNT2, and TNNI3. Other genes, including some that have not been identified, may also be involved in this condition. The proteins produced from the genes associated with familial hypertr... |
inheritance | Is familial hypertrophic cardiomyopathy 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. Rarely, both copies of the gene are altered, leading to more severe signs and symptoms. In most cases, an affected person has one parent with the condition. |
treatment | What are the treatments for familial hypertrophic cardiomyopathy ? | These resources address the diagnosis or management of familial hypertrophic cardiomyopathy: - Cleveland Clinic - Gene Review: Gene Review: Hypertrophic Cardiomyopathy Overview - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 1 - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 2 - Ge... |
information | What is (are) keratitis-ichthyosis-deafness syndrome ? | Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal ... |
frequency | How many people are affected by keratitis-ichthyosis-deafness syndrome ? | KID syndrome is a rare disorder. Its prevalence is unknown. Approximately 100 cases have been reported. |
genetic changes | What are the genetic changes related to keratitis-ichthyosis-deafness syndrome ? | KID syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, ... |
inheritance | Is keratitis-ichthyosis-deafness syndrome inherited ? | KID syndrome is usually 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. However, most cases result from new mutations in the gene and occur in people w... |
treatment | What are the treatments for keratitis-ichthyosis-deafness syndrome ? | These resources address the diagnosis or management of keratitis-ichthyosis-deafness syndrome: - Genetic Testing Registry: Autosomal recessive keratitis-ichthyosis-deafness syndrome - Genetic Testing Registry: Keratitis-ichthyosis-deafness syndrome, autosomal dominant These resources from MedlinePlus offer informat... |
information | What is (are) 7q11.23 duplication syndrome ? | 7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. People with 7q11.23 duplication syndrome typically have delayed development of speech and delayed motor skills such as crawling and walking. Speech problems and abnormalities in ... |
frequency | How many people are affected by 7q11.23 duplication syndrome ? | The prevalence of this disorder is estimated to be 1 in 7,500 to 20,000 people. |
genetic changes | What are the genetic changes related to 7q11.23 duplication syndrome ? | 7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. The region, ... |
inheritance | Is 7q11.23 duplication syndrome inherited ? | 7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm) or in early fetal dev... |
treatment | What are the treatments for 7q11.23 duplication syndrome ? | These resources address the diagnosis or management of 7q11.23 duplication syndrome: - Cardiff University (United Kingdom): Copy Number Variant Research - Gene Review: Gene Review: 7q11.23 Duplication Syndrome - Genetic Testing Registry: Williams-Beuren region duplication syndrome - University of Antwerp (Belgium):... |
information | What is (are) 22q13.3 deletion syndrome ? | 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the... |
frequency | How many people are affected by 22q13.3 deletion syndrome ? | At least 500 cases of 22q13.3 deletion syndrome are known. |
genetic changes | What are the genetic changes related to 22q13.3 deletion syndrome ? | 22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. A ring chromosome 22 can also cause 22q... |
inheritance | Is 22q13.3 deletion syndrome inherited ? | Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to... |
treatment | What are the treatments for 22q13.3 deletion syndrome ? | These resources address the diagnosis or management of 22q13.3 deletion syndrome: - Gene Review: Gene Review: Phelan-McDermid Syndrome - Genetic Testing Registry: 22q13.3 deletion syndrome - MedlinePlus Encyclopedia: Sweating--absent These resources from MedlinePlus offer information about the diagnosis and manage... |
information | What is (are) ALG6-congenital disorder of glycosylation ? | ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. Individuals with ALG6-CDG typically develop signs and symptoms ... |
frequency | How many people are affected by ALG6-congenital disorder of glycosylation ? | The prevalence of ALG6-CDG is unknown, but it is thought to be the second most common type of congenital disorder of glycosylation. More than 30 cases of ALG6-CDG have been described in the scientific literature. |
genetic changes | What are the genetic changes related to ALG6-congenital disorder of glycosylation ? | ALG6-CDG is caused by mutations in the ALG6 gene. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. Glycosylation is the process by which sugar molecules (monosaccharides) and complex chains of sugar molecules (oligosaccharides) are added to proteins and fats. Glyc... |
inheritance | Is ALG6-congenital disorder of glycosylation inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for ALG6-congenital disorder of glycosylation ? | These resources address the diagnosis or management of ALG6-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surge... |
information | What is (are) sialuria ? | Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). They may develop a somewhat fla... |
frequency | How many people are affected by sialuria ? | Fewer than 10 people worldwide have been diagnosed with sialuria. There are probably more people with the disorder who have not been diagnosed, as sialuria can be difficult to detect because of its variable features. |
genetic changes | What are the genetic changes related to sialuria ? | Mutations in the GNE gene cause sialuria. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. ... |
inheritance | Is sialuria 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 reported cases have occurred in people with no known history of the disorder in their family and may result from new mutations in the gene. |
treatment | What are the treatments for sialuria ? | These resources address the diagnosis or management of sialuria: - Gene Review: Gene Review: Sialuria - Genetic Testing Registry: Sialuria - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Newborn Jaundice These resources from MedlinePlus offer information about the diagnosis and ... |
information | What is (are) Schindler disease ? | Schindler disease is an inherited disorder that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form. Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop... |
frequency | How many people are affected by Schindler disease ? | Schindler disease is very rare. Only a few individuals with each type of the disorder have been identified. |
genetic changes | What are the genetic changes related to Schindler disease ? | Mutations in the NAGA gene cause Schindler disease. The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase. This enzyme works in the lysosomes, which are compartments within cells that digest and recycle materials. Within lysosomes, the enzyme helps break down complexes called glycopr... |
inheritance | Is Schindler 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 Schindler disease ? | These resources address the diagnosis or management of Schindler disease: - Genetic Testing Registry: Kanzaki disease - Genetic Testing Registry: Schindler disease, type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... |
information | What is (are) Lynch syndrome ? | Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an incre... |
frequency | How many people are affected by Lynch syndrome ? | In the United States, about 140,000 new cases of colorectal cancer are diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by Lynch syndrome. |
genetic changes | What are the genetic changes related to Lynch syndrome ? | Variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene increase the risk of developing Lynch syndrome. The MLH1, MSH2, MSH6, and PMS2 genes are involved in the repair of mistakes that occur when DNA is copied in preparation for cell division (a process called DNA replication). Mutations in any of these genes prevent ... |
inheritance | Is Lynch syndrome inherited ? | Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these ... |
treatment | What are the treatments for Lynch syndrome ? | These resources address the diagnosis or management of Lynch syndrome: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Review: Gene Review: Lynch Syndrome - GeneFacts: Lynch Syndrome:... |
information | What is (are) Gaucher disease ? | Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common for... |
frequency | How many people are affected by Gaucher disease ? | Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This form of the condition affects 1 in 500 to 1,000 pe... |
genetic changes | What are the genetic changes related to Gaucher disease ? | Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate t... |
inheritance | Is Gaucher 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 Gaucher disease ? | These resources address the diagnosis or management of Gaucher disease: - Baby's First Test - Gene Review: Gene Review: Gaucher Disease - Genetic Testing Registry: Gaucher disease - MedlinePlus Encyclopedia: Gaucher Disease These resources from MedlinePlus offer information about the diagnosis and management of v... |
information | What is (are) Cockayne syndrome ? | Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected indi... |
frequency | How many people are affected by Cockayne syndrome ? | Cockayne syndrome occurs in about 2 per million newborns in the United States and Europe. |
genetic changes | What are the genetic changes related to Cockayne syndrome ? | Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as the CSB gene) or the ERCC8 gene (also known as the CSA gene). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemica... |
inheritance | Is Cockayne 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 Cockayne syndrome ? | These resources address the diagnosis or management of Cockayne syndrome: - Gene Review: Gene Review: Cockayne Syndrome - Genetic Testing Registry: Cockayne syndrome - Genetic Testing Registry: Cockayne syndrome type A - Genetic Testing Registry: Cockayne syndrome type C - Genetic Testing Registry: Cockayne syndro... |
information | What is (are) actin-accumulation myopathy ? | Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in ... |
frequency | How many people are affected by actin-accumulation myopathy ? | Actin-accumulation myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown. |
genetic changes | What are the genetic changes related to actin-accumulation myopathy ? | Actin-accumulation myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is a member of the actin protein family found in skeletal muscles. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle con... |
inheritance | Is actin-accumulation myopathy inherited ? | Actin-accumulation myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family. |
treatment | What are the treatments for actin-accumulation myopathy ? | These resources address the diagnosis or management of actin-accumulation myopathy: - Genetic Testing Registry: Nemaline myopathy 3 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) Hirschsprung disease ? | Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two mon... |
frequency | How many people are affected by Hirschsprung disease ? | Hirschsprung disease occurs in approximately 1 in 5,000 newborns. |
genetic changes | What are the genetic changes related to Hirschsprung disease ? | Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be requir... |
inheritance | Is Hirschsprung disease inherited ? | Approximately 20 percent of cases of Hirschsprung disease occur in multiple members of the same family. The remainder of cases occur in people with no history of the disorder in their families. Hirschsprung disease appears to have a dominant pattern of inheritance, which means one copy of the altered gene in each cell... |
treatment | What are the treatments for Hirschsprung disease ? | These resources address the diagnosis or management of Hirschsprung disease: - Cedars-Sinai: Treating Hirschsprung's Disease (Colonic Aganglionosis) - Gene Review: Gene Review: Hirschsprung Disease Overview - Genetic Testing Registry: Hirschsprung disease 1 - Genetic Testing Registry: Hirschsprung disease 2 - Gene... |
information | What is (are) fragile X syndrome ? | Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males wi... |
frequency | How many people are affected by fragile X syndrome ? | Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females. |
genetic changes | What are the genetic changes related to fragile X syndrome ? | Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relayi... |
inheritance | Is fragile X syndrome inherited ? | Fragile X syndrome is inherited in an X-linked dominant 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. (The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in ... |
treatment | What are the treatments for fragile X syndrome ? | These resources address the diagnosis or management of fragile X syndrome: - Gene Review: Gene Review: FMR1-Related Disorders - GeneFacts: Fragile X Syndrome: Diagnosis - GeneFacts: Fragile X Syndrome: Management - Genetic Testing Registry: Fragile X syndrome - MedlinePlus Encyclopedia: Fragile X syndrome These ... |
information | What is (are) ZAP70-related severe combined immunodeficiency ? | ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses,... |
frequency | How many people are affected by ZAP70-related severe combined immunodeficiency ? | ZAP70-related SCID is a rare disorder. Only about 20 affected individuals have been identified. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000. |
genetic changes | What are the genetic changes related to ZAP70-related severe combined immunodeficiency ? | As the name indicates, this condition is caused by mutations in the ZAP70 gene. The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. ... |
inheritance | Is ZAP70-related severe combined immunodeficiency 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 ZAP70-related severe combined immunodeficiency ? | These resources address the diagnosis or management of ZAP70-related severe combined immunodeficiency: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: ZAP70-Related Severe Combined Immunodeficiency - Genetic Testing Registry: Severe combined immunodeficiency, atypical These resour... |
information | What is (are) Cant syndrome ? | Cant syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals. People with Cant syndrome have thick scalp hair that extends onto the forehead and grows... |
frequency | How many people are affected by Cant syndrome ? | Cant syndrome is a rare condition. About three dozen affected individuals have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Cant syndrome ? | Cant syndrome results from mutations in the ABCC9 gene. This gene provides instructions for making one part (subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ABCC9 gene alter the structure of the potassium channel, which causes the channel to open wh... |
inheritance | Is Cant syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected perso... |
treatment | What are the treatments for Cant syndrome ? | These resources address the diagnosis or management of Cant syndrome: - Gene Review: Gene Review: Cant syndrome - Genetic Testing Registry: Hypertrichotic osteochondrodysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - ... |
information | What is (are) Russell-Silver syndrome ? | Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the res... |
frequency | How many people are affected by Russell-Silver syndrome ? | The exact incidence of Russell-Silver syndrome is unknown, but the condition is estimated to affect 1 in 75,000 to 100,000 people. |
genetic changes | What are the genetic changes related to Russell-Silver syndrome ? | The genetic causes of Russell-Silver syndrome are complex. The disorder often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11. People normally inherit one copy of each chromosome from their mother a... |
inheritance | Is Russell-Silver syndrome inherited ? | Most cases of Russell-Silver syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, Russell-Silver syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inh... |
treatment | What are the treatments for Russell-Silver syndrome ? | These resources address the diagnosis or management of Russell-Silver syndrome: - Gene Review: Gene Review: Russell-Silver Syndrome - Genetic Testing Registry: Russell-Silver syndrome - MedlinePlus Encyclopedia: Russell-Silver syndrome These resources from MedlinePlus offer information about the diagnosis and mana... |
information | What is (are) Hennekam syndrome ? | Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. The characteristic signs and symptoms of... |
frequency | How many people are affected by Hennekam syndrome ? | At least 50 cases of Hennekam syndrome have been reported worldwide. |
genetic changes | What are the genetic changes related to Hennekam syndrome ? | Mutations in the CCBE1 or FAT4 gene can cause Hennekam syndrome. The CCBE1 gene provides instructions for making a protein that is found in the lattice of proteins and other molecules outside the cell (extracellular matrix). The CCBE1 protein is involved in the maturation (differentiation) and movement (migration) of ... |
inheritance | Is Hennekam 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 Hennekam syndrome ? | These resources address the diagnosis or management of Hennekam syndrome: - Great Ormond Street Hospital for Children (UK): Primary Intestinal Lymphangiectasia Information - Johns Hopkins Medicine: Lymphedema Management - VascularWeb: Lymphedema These resources from MedlinePlus offer information about the diagnosi... |
information | What is (are) eosinophil peroxidase deficiency ? | Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or... |
frequency | How many people are affected by eosinophil peroxidase deficiency ? | Approximately 100 individuals with eosinophil peroxidase deficiency have been described in the scientific literature. Based on blood test data, varying estimates of the prevalence of the condition have been reported in specific populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in 1,000 Yemenite... |
genetic changes | What are the genetic changes related to eosinophil peroxidase deficiency ? | Mutations in the EPX gene cause eosinophil peroxidase deficiency. The EPX gene provides instructions for making the eosinophil peroxidase protein. During an immune response, activated eosinophils release eosinophil peroxidase at the site of injury. This protein helps form molecules that are highly toxic to bacteria and... |
inheritance | Is eosinophil peroxidase 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. |
treatment | What are the treatments for eosinophil peroxidase deficiency ? | These resources address the diagnosis or management of eosinophil peroxidase deficiency: - Genetic Testing Registry: Eosinophil peroxidase deficiency - Tulane University Eosinophilic Disorder Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... |
information | What is (are) Friedreich ataxia ? | Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffne... |
frequency | How many people are affected by Friedreich ataxia ? | Friedreich ataxia is estimated to affect 1 in 40,000 people. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups. |
genetic changes | What are the genetic changes related to Friedreich ataxia ? | Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a s... |
inheritance | Is Friedreich ataxia 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 Friedreich ataxia ? | These resources address the diagnosis or management of Friedreich ataxia: - Friedreich's Ataxia Research Alliance: Clinical Care Guidelines - Gene Review: Gene Review: Friedreich Ataxia - Genetic Testing Registry: Friedreich ataxia 1 - MedlinePlus Encyclopedia: Friedreich's Ataxia - MedlinePlus Encyclopedia: Hyper... |
information | What is (are) Meesmann corneal dystrophy ? | Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign ... |
frequency | How many people are affected by Meesmann corneal dystrophy ? | Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. It was first described in a large, multi-generational German family with more than 100 affected members. Since then, the condition has been reported in individuals and families worldwide. |
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