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What is (are) Ehlers-Danlos syndrome ? | Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. ... | Ehlers-Danlos syndrome |
How many people are affected by Ehlers-Danlos syndrome ? | Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classical forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, wh... | Ehlers-Danlos syndrome |
What are the genetic changes related to Ehlers-Danlos syndrome ? | Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. The classical type results most often from mutations in either the COL5A1 gene or the COL5A2 gene. Mutations in the TNXB gene have been found in a very small percentage of cases of the hypermobility type (although in most cases, the c... | Ehlers-Danlos syndrome |
Is Ehlers-Danlos syndrome inherited ? | The inheritance pattern of Ehlers-Danlos syndrome varies by type. The arthrochalasia, classical, hypermobility, and vascular forms of the disorder have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. I... | Ehlers-Danlos syndrome |
What are the treatments for Ehlers-Danlos syndrome ? | These resources address the diagnosis or management of Ehlers-Danlos syndrome: - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Classic Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Hypermobility Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Kyphoscoliotic Form - Gene Review: Gene Review: V... | Ehlers-Danlos syndrome |
What is (are) Robinow syndrome ? | Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the bones. Researchers have identified two major types of Robinow syndrome. The types are distinguished by the severity of their signs and symptoms and by their pattern of inheritance, autosomal recessive or autosom... | Robinow syndrome |
How many people are affected by Robinow syndrome ? | Both the autosomal recessive and autosomal dominant forms of Robinow syndrome are rare. Fewer than 200 people with autosomal recessive Robinow syndrome have been described in the medical literature. This form of the condition has been identified in families from several countries, including Turkey, Oman, Pakistan, and... | Robinow syndrome |
What are the genetic changes related to Robinow syndrome ? | Autosomal recessive Robinow syndrome results from mutations in the ROR2 gene. This gene provides instructions for making a protein whose function is not well understood, although it is involved in chemical signaling pathways that are essential for normal development before birth. In particular, the ROR2 protein appears... | Robinow syndrome |
Is Robinow syndrome inherited ? | As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant pattern of inheritance. Autosomal recessive inheritance 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 g... | Robinow syndrome |
What are the treatments for Robinow syndrome ? | These resources address the diagnosis or management of Robinow syndrome: - Gene Review: Gene Review: Autosomal Dominant Robinow Syndrome - Gene Review: Gene Review: ROR2-Related Robinow Syndrome - Genetic Testing Registry: Robinow syndrome - University of Chicago: Genetic Testing for Robinow Syndrome These resour... | Robinow syndrome |
What is (are) focal dermal hypoplasia ? | Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. People w... | focal dermal hypoplasia |
How many people are affected by focal dermal hypoplasia ? | Focal dermal hypoplasia appears to be a rare condition, although its exact prevalence is unknown. | focal dermal hypoplasia |
What are the genetic changes related to focal dermal hypoplasia ? | Mutations in the PORCN gene cause focal dermal hypoplasia. This gene provides instructions for making a protein that is responsible for modifying other proteins, called Wnt proteins. Wnt proteins participate in chemical signaling pathways in the body that regulate development of the skin, bones, and other structures be... | focal dermal hypoplasia |
Is focal dermal hypoplasia inherited ? | Focal dermal hypoplasia is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder... | focal dermal hypoplasia |
What are the treatments for focal dermal hypoplasia ? | These resources address the diagnosis or management of focal dermal hypoplasia: - Gene Review: Gene Review: Focal Dermal Hypoplasia - Genetic Testing Registry: Focal dermal hypoplasia - MedlinePlus Encyclopedia: Ectodermal dysplasia - MedlinePlus Encyclopedia: Omphalocele These resources from MedlinePlus offer in... | focal dermal hypoplasia |
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... | isovaleric acidemia |
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. | isovaleric acidemia |
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... | isovaleric acidemia |
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. | isovaleric acidemia |
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 ... | isovaleric acidemia |
What is (are) Senior-Lken syndrome ? | Senior-Lken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney ... | Senior-Lken syndrome |
How many people are affected by Senior-Lken syndrome ? | Senior-Lken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature. | Senior-Lken syndrome |
What are the genetic changes related to Senior-Lken syndrome ? | Senior-Lken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they are involved in signaling pathways tha... | Senior-Lken syndrome |
Is Senior-Lken 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. | Senior-Lken syndrome |
What are the treatments for Senior-Lken syndrome ? | These resources address the diagnosis or management of Senior-Lken syndrome: - Genetic Testing Registry: Senior-Loken syndrome 1 - Genetic Testing Registry: Senior-Loken syndrome 3 - Genetic Testing Registry: Senior-Loken syndrome 4 - Genetic Testing Registry: Senior-Loken syndrome 5 - Genetic Testing Registry: Se... | Senior-Lken syndrome |
What is (are) boomerang dysplasia ? | Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a ... | boomerang dysplasia |
How many people are affected by boomerang dysplasia ? | Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. Approximately 10 affected individuals have been identified. | boomerang dysplasia |
What are the genetic changes related to boomerang dysplasia ? | Mutations in the FLNB gene cause boomerang dysplasia. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein ... | boomerang dysplasia |
Is boomerang dysplasia 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. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | boomerang dysplasia |
What are the treatments for boomerang dysplasia ? | These resources address the diagnosis or management of boomerang dysplasia: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Boomerang dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... | boomerang dysplasia |
What is (are) 6q24-related transient neonatal diabetes mellitus ? | 6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for ... | 6q24-related transient neonatal diabetes mellitus |
How many people are affected by 6q24-related transient neonatal diabetes mellitus ? | Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes mellitus. In about half of these babies, the diabetes is transient. Researchers estimate that approximately 70 percent of transient diabetes in newborns is caused by 6q24-related transient neonatal diabetes mellitus. | 6q24-related transient neonatal diabetes mellitus |
What are the genetic changes related to 6q24-related transient neonatal diabetes mellitus ? | 6q24-related transient neonatal diabetes mellitus is caused by the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. People inherit two copies of their genes, one from their mother and one from their father. Usually both copies of each gene are active, or "turne... | 6q24-related transient neonatal diabetes mellitus |
Is 6q24-related transient neonatal diabetes mellitus inherited ? | Most cases of 6q24-related transient neonatal diabetes mellitus are not inherited, particularly those caused by paternal uniparental disomy. In these cases, genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically hav... | 6q24-related transient neonatal diabetes mellitus |
What are the treatments for 6q24-related transient neonatal diabetes mellitus ? | These resources address the diagnosis or management of 6q24-related transient neonatal diabetes mellitus: - Gene Review: Gene Review: Diabetes Mellitus, 6q24-Related Transient Neonatal - Genetic Testing Registry: Transient neonatal diabetes mellitus 1 - The Merck Manual for Healthcare Professionals - University of ... | 6q24-related transient neonatal diabetes mellitus |
What is (are) autosomal dominant hyper-IgE syndrome ? | Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds o... | autosomal dominant hyper-IgE syndrome |
How many people are affected by autosomal dominant hyper-IgE syndrome ? | This condition is rare, affecting fewer than 1 per million people. | autosomal dominant hyper-IgE syndrome |
What are the genetic changes related to autosomal dominant hyper-IgE syndrome ? | Mutations in the STAT3 gene cause most cases of AD-HIES. This gene provides instructions for making a protein that plays an important role in several body systems. To carry out its roles, the STAT3 protein attaches to DNA and helps control the activity of particular genes. In the immune system, the STAT3 protein regula... | autosomal dominant hyper-IgE syndrome |
Is autosomal dominant hyper-IgE syndrome inherited ? | AD-HIES has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In about half of all cases caused by STAT3 gene mutations, an affected person inherits the genetic change from an affected parent. Other cases result from new mutations in ... | autosomal dominant hyper-IgE syndrome |
What are the treatments for autosomal dominant hyper-IgE syndrome ? | These resources address the diagnosis or management of autosomal dominant hyper-IgE syndrome: - Gene Review: Gene Review: Autosomal Dominant Hyper IgE Syndrome - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperimmunoglobulin E syndrome These resources from MedlinePlus offe... | autosomal dominant hyper-IgE syndrome |
What is (are) type 1 diabetes ? | Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin resul... | type 1 diabetes |
How many people are affected by type 1 diabetes ? | Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less frequently in ... | type 1 diabetes |
What are the genetic changes related to type 1 diabetes ? | The causes of type 1 diabetes are unknown, although several risk factors have been identified. The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The H... | type 1 diabetes |
Is type 1 diabetes inherited ? | A predisposition to develop type 1 diabetes is passed through generations in families, but the inheritance pattern is unknown. | type 1 diabetes |
What are the treatments for type 1 diabetes ? | These resources address the diagnosis or management of type 1 diabetes: - Food and Drug Administration: Blood Glucose Measuring Devices - Food and Drug Administration: Insulin - Genetic Testing Registry: Diabetes mellitus type 1 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 10 - Genetic Testing... | type 1 diabetes |
What is (are) ADCY5-related dyskinesia ? | ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect t... | ADCY5-related dyskinesia |
How many people are affected by ADCY5-related dyskinesia ? | The prevalence of ADCY5-related dyskinesia is unknown. At least 50 affected individuals have been described in the medical literature. | ADCY5-related dyskinesia |
What are the genetic changes related to ADCY5-related dyskinesia ? | As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a mo... | ADCY5-related dyskinesia |
Is ADCY5-related dyskinesia 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 result from new mutations in the gene and occur in people with no histor... | ADCY5-related dyskinesia |
What are the treatments for ADCY5-related dyskinesia ? | These resources address the diagnosis or management of ADCY5-related dyskinesia: - Gene Review: Gene Review: ADCY5-Related Dyskinesia - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia - National Ataxia Foundation: Movement Disorder Clinics These resources from MedlinePlus offer information abo... | ADCY5-related dyskinesia |
What is (are) alveolar capillary dysplasia with misalignment of pulmonary veins ? | Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capil... | alveolar capillary dysplasia with misalignment of pulmonary veins |
How many people are affected by alveolar capillary dysplasia with misalignment of pulmonary veins ? | ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 infants with this disorder have been identified worldwide. | alveolar capillary dysplasia with misalignment of pulmonary veins |
What are the genetic changes related to alveolar capillary dysplasia with misalignment of pulmonary veins ? | ACD/MPV can be caused by mutations in the FOXF1 gene. The protein produced from the FOXF1 gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in development of the lungs and their blood vessels... | alveolar capillary dysplasia with misalignment of pulmonary veins |
Is alveolar capillary dysplasia with misalignment of pulmonary veins inherited ? | ACD/MPV is usually not inherited, and most affected people have no history of the disorder in their family. The genetic changes associated with this condition usually occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. When the condition is caused by a FOXF1 gene mutation or... | alveolar capillary dysplasia with misalignment of pulmonary veins |
What are the treatments for alveolar capillary dysplasia with misalignment of pulmonary veins ? | These resources address the diagnosis or management of ACD/MPV: - Genetic Testing Registry: Alveolar capillary dysplasia with misalignment of pulmonary veins - MedlinePlus Encyclopedia: Alveolar Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health con... | alveolar capillary dysplasia with misalignment of pulmonary veins |
What is (are) Bartter syndrome ? | Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amni... | Bartter syndrome |
How many people are affected by Bartter syndrome ? | The exact prevalence of this disorder is unknown, although it likely affects about 1 per million people worldwide. The condition appears to be more common in Costa Rica and Kuwait than in other populations. | Bartter syndrome |
What are the genetic changes related to Bartter syndrome ? | Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA... | Bartter syndrome |
Is Bartter 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. | Bartter syndrome |
What are the treatments for Bartter syndrome ? | These resources address the diagnosis or management of Bartter syndrome: - Genetic Testing Registry: Bartter syndrome antenatal type 1 - Genetic Testing Registry: Bartter syndrome antenatal type 2 - Genetic Testing Registry: Bartter syndrome type 3 - Genetic Testing Registry: Bartter syndrome type 4 - Genetic Test... | Bartter syndrome |
What is (are) Alstrm syndrome ? | Alstrm syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alstrm syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens t... | Alstrm syndrome |
How many people are affected by Alstrm syndrome ? | More than 900 people with Alstrm syndrome have been reported worldwide. | Alstrm syndrome |
What are the genetic changes related to Alstrm syndrome ? | Mutations in the ALMS1 gene cause Alstrm syndrome. The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissue... | Alstrm syndrome |
Is Alstrm 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. | Alstrm syndrome |
What are the treatments for Alstrm syndrome ? | These resources address the diagnosis or management of Alstrm syndrome: - Gene Review: Gene Review: Alstrom Syndrome - Genetic Testing Registry: Alstrom syndrome - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Alstrm syndrome These resources from MedlinePlus offer information about th... | Alstrm syndrome |
What is (are) purine nucleoside phosphorylase deficiency ? | Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. Affected individuals are prone to repeated and persist... | purine nucleoside phosphorylase deficiency |
How many people are affected by purine nucleoside phosphorylase deficiency ? | Purine nucleoside phosphorylase deficiency is rare; only about 70 affected individuals have been identified. This disorder accounts for approximately 4 percent of all SCID cases. | purine nucleoside phosphorylase deficiency |
What are the genetic changes related to purine nucleoside phosphorylase deficiency ? | Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body... | purine nucleoside phosphorylase deficiency |
Is purine nucleoside phosphorylase 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. | purine nucleoside phosphorylase deficiency |
What are the treatments for purine nucleoside phosphorylase deficiency ? | These resources address the diagnosis or management of purine nucleoside phosphorylase deficiency: - Baby's First Test: Severe Combined Immunodeficiency - Genetic Testing Registry: Purine-nucleoside phosphorylase deficiency - National Marrow Donor Program These resources from MedlinePlus offer information about th... | purine nucleoside phosphorylase deficiency |
What is (are) hereditary cerebral amyloid angiopathy ? | Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the se... | hereditary cerebral amyloid angiopathy |
How many people are affected by hereditary cerebral amyloid angiopathy ? | The prevalence of hereditary cerebral amyloid angiopathy is unknown. The Dutch type is the most common, with over 200 affected individuals reported in the scientific literature. | hereditary cerebral amyloid angiopathy |
What are the genetic changes related to hereditary cerebral amyloid angiopathy ? | Mutations in the APP gene are the most common cause of hereditary cerebral amyloid angiopathy. APP gene mutations cause the Dutch, Italian, Arctic, Iowa, Flemish, and Piedmont types of this condition. Mutations in the CST3 gene cause the Icelandic type. Familial British and Danish dementia are caused by mutations in th... | hereditary cerebral amyloid angiopathy |
Is hereditary cerebral amyloid angiopathy inherited ? | Hereditary cerebral amyloid angiopathy caused by mutations in the APP, CST3, or ITM2B gene is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There is also a non-hereditary form of cerebral amyloid angiopathy that occurs in people w... | hereditary cerebral amyloid angiopathy |
What are the treatments for hereditary cerebral amyloid angiopathy ? | These resources address the diagnosis or management of hereditary cerebral amyloid angiopathy: - Genetic Testing Registry: Cerebral amyloid angiopathy, APP-related - Genetic Testing Registry: Dementia familial British - Genetic Testing Registry: Dementia, familial Danish - Genetic Testing Registry: Hereditary cereb... | hereditary cerebral amyloid angiopathy |
What is (are) Renpenning syndrome ? | Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). Facial features characteristic of t... | Renpenning syndrome |
How many people are affected by Renpenning syndrome ? | Renpenning syndrome is a rare disorder; its prevalence is unknown. More than 60 affected individuals in at least 15 families have been identified. | Renpenning syndrome |
What are the genetic changes related to Renpenning syndrome ? | Renpenning syndrome is caused by mutations in the PQBP1 gene. This gene provides instructions for making a protein called polyglutamine-binding protein 1. This protein attaches (binds) to stretches of multiple copies of a protein building block (amino acid) called glutamine in certain other proteins. While the specifi... | Renpenning syndrome |
Is Renpenning syndrome 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... | Renpenning syndrome |
What are the treatments for Renpenning syndrome ? | These resources address the diagnosis or management of Renpenning syndrome: - Genetic Testing Registry: Renpenning syndrome 1 - Greenwood Genetics Center: X-Linked Intellectual Disability - Kennedy Krieger Institute: Center for Genetic Disorders of Cognition and Behavior These resources from MedlinePlus offer info... | Renpenning syndrome |
What is (are) malignant migrating partial seizures of infancy ? | Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at fi... | malignant migrating partial seizures of infancy |
How many people are affected by malignant migrating partial seizures of infancy ? | MMPSI is a rare condition. Although its prevalence is unknown, approximately 100 cases have been described in the medical literature. | malignant migrating partial seizures of infancy |
What are the genetic changes related to malignant migrating partial seizures of infancy ? | The genetic cause of MMPSI is not fully known. Mutations in the KCNT1 gene have been found in several individuals with this condition and are the most common known cause of MMPSI. Mutations in other genes are also thought to be involved in the condition. The KCNT1 gene provides instructions for making a protein that f... | malignant migrating partial seizures of infancy |
Is malignant migrating partial seizures of infancy inherited ? | MMPSI is not inherited from a parent and does not run in families. This condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation). | malignant migrating partial seizures of infancy |
What are the treatments for malignant migrating partial seizures of infancy ? | These resources address the diagnosis or management of malignant migrating partial seizures of infancy: - Genetic Testing Registry: Early infantile epileptic encephalopathy 14 - MedlinePlus Encyclopedia: EEG These resources from MedlinePlus offer information about the diagnosis and management of various health cond... | malignant migrating partial seizures of infancy |
What is (are) prothrombin thrombophilia ? | Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occurs in the... | prothrombin thrombophilia |
How many people are affected by prothrombin thrombophilia ? | Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. Approximately 1 in 50 people in the white population in the United States and Europe has prothrombin thrombophilia. This condition is less common in other ethnic groups, occurring in less than one pe... | prothrombin thrombophilia |
What are the genetic changes related to prothrombin thrombophilia ? | Prothrombin thrombophilia is caused by a particular mutation in the F2 gene. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene, prothrombin (also called coagulation factor II), is the precursor to a protein called thrombin that initiates a ser... | prothrombin thrombophilia |
Is prothrombin thrombophilia inherited ? | The risk of developing an abnormal clot in a blood vessel depends on whether a person inherits one or two copies of the F2 gene mutation that causes prothrombin thrombophilia. In the general population, the risk of developing an abnormal blood clot is about 1 in 1,000 people per year. Inheriting one copy of the F2 gene... | prothrombin thrombophilia |
What are the treatments for prothrombin thrombophilia ? | These resources address the diagnosis or management of prothrombin thrombophilia: - Gene Review: Gene Review: Prothrombin-Related Thrombophilia - Genetic Testing Registry: Thrombophilia - MedlinePlus Encyclopedia: Deep venous thrombosis - MedlinePlus Encyclopedia: Pulmonary embolus These resources from MedlinePlu... | prothrombin thrombophilia |
What is (are) malonyl-CoA decarboxylase deficiency ? | Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), s... | malonyl-CoA decarboxylase deficiency |
How many people are affected by malonyl-CoA decarboxylase deficiency ? | This condition is very rare; fewer than 30 cases have been reported. | malonyl-CoA decarboxylase deficiency |
What are the genetic changes related to malonyl-CoA decarboxylase deficiency ? | Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a group of fats called fatty acids. Many tissues, including the heart muscle, use fa... | malonyl-CoA decarboxylase deficiency |
Is malonyl-CoA decarboxylase 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. | malonyl-CoA decarboxylase deficiency |
What are the treatments for malonyl-CoA decarboxylase deficiency ? | These resources address the diagnosis or management of malonyl-CoA decarboxylase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of malonyl-CoA decarboxylase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... | malonyl-CoA decarboxylase deficiency |
What is (are) gray platelet syndrome ? | Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following sur... | gray platelet syndrome |
How many people are affected by gray platelet syndrome ? | Gray platelet syndrome appears to be a rare disorder. About 60 cases have been reported worldwide. | gray platelet syndrome |
What are the genetic changes related to gray platelet syndrome ? | Gray platelet syndrome can be caused by mutations in the NBEAL2 gene. Little is known about the protein produced from this gene. It appears to play a role in the formation of alpha-granules, which are sacs inside platelets that contain growth factors and other proteins that are important for blood clotting and wound he... | gray platelet syndrome |
Is gray platelet syndrome inherited ? | When gray platelet syndrome is caused by NBEAL2 gene mutations, it has an autosomal recessive pattern of inheritance, 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 altered gene in each cell. Gray platelet s... | gray platelet syndrome |
What are the treatments for gray platelet syndrome ? | These resources address the diagnosis or management of gray platelet syndrome: - Genetic Testing Registry: Gray platelet syndrome - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health condit... | gray platelet syndrome |
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