qtype stringclasses 16
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genetic changes | What are the genetic changes related to ovarian cancer ? | Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. Most cases of ovarian cancer are sporadic; in these cases the associated genetic changes are acquired during a person's lifetime and ... |
inheritance | Is ovarian cancer inherited ? | Most cases of ovarian cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families. A predisposition to cancer caused by a germline mutation is usually inherited in an autosomal dominant pattern... |
treatment | What are the treatments for ovarian cancer ? | These resources address the diagnosis or management of ovarian cancer: - Dana-Farber Cancer Institute - Familial Ovarian Cancer Registry - Fred Hutchinson Cancer Research Center - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Genetic Testing Registry: Hereditary breast and ovarian ca... |
information | What is (are) multiple lentigines syndrome ? | Multiple lentigines syndrome (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to freckles, abnormalities in the electrical signals that control the heartbeat, widel... |
frequency | How many people are affected by multiple lentigines syndrome ? | Multiple lentigines syndrome is thought to be a rare condition; approximately 200 cases have been reported worldwide. |
genetic changes | What are the genetic changes related to multiple lentigines syndrome ? | Mutations in the PTPN11, RAF1, or BRAF genes cause multiple lentigines syndrome. Approximately 90 percent of individuals with multiple lentigines syndrome have mutations in the PTPN11 gene. RAF1 and BRAF gene mutations are responsible for a total of about 10 percent of cases. A small proportion of people with multiple ... |
inheritance | Is multiple lentigines 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 multiple lentigines syndrome ? | These resources address the diagnosis or management of multiple lentigines syndrome: - Cincinnati Children's Hospital: Cardiomyopathies - Gene Review: Gene Review: Noonan Syndrome with Multiple Lentigines - Genetic Testing Registry: LEOPARD syndrome 1 - Genetic Testing Registry: LEOPARD syndrome 2 - Genetic Testin... |
information | What is (are) congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? | Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in ... |
frequency | How many people are affected by congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? | CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of all cases of congenital adrenal hyperplasia. It is estimated that CAH due to 11-beta-hydroxylase deficiency occurs in 1 in 100,000 to 200,000 newborns. This condition is more common in Moroccan Jews living in Israel, occurring in approximately 1 i... |
genetic changes | What are the genetic changes related to congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? | Mutations in the CYP11B1 gene cause CAH due to 11-beta-hydroxylase deficiency. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands, where it helps produce hormones called cortisol and corticosterone. Cortisol has numerous functions, such as ... |
inheritance | Is congenital adrenal hyperplasia due to 11-beta-hydroxylase 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 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? | These resources address the diagnosis or management of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: - Genetic Testing Registry: Deficiency of steroid 11-beta-monooxygenase - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia These resources from MedlinePlus offer information about the... |
information | What is (are) adult polyglucosan body disease ? | Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition call... |
frequency | How many people are affected by adult polyglucosan body disease ? | Adult polyglucosan body disease is a rare condition; although its exact prevalence is unknown, at least 50 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to adult polyglucosan body disease ? | Mutations in the GBE1 gene cause adult polyglucosan body disease. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Most GBE1 gene mutations result in a shortag... |
inheritance | Is adult polyglucosan body 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 adult polyglucosan body disease ? | These resources address the diagnosis or management of adult polyglucosan body disease: - Gene Review: Gene Review: Adult Polyglucosan Body Disease - Genetic Testing Registry: Polyglucosan body disease, adult - MedlinePlus Encyclopedia: Neurogenic Bladder - MedlinePlus Encyclopedia: Spasticity These resources fro... |
information | What is (are) cerebral cavernous malformation ? | Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels ar... |
frequency | How many people are affected by cerebral cavernous malformation ? | Cerebral cavernous malformations affect about 0.5 percent of the population worldwide. |
genetic changes | What are the genetic changes related to cerebral cavernous malformation ? | Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations. The precise functions of these genes are not fully understood. Studies show that the proteins produced from these genes are found in the junctions connecting neighborin... |
inheritance | Is cerebral cavernous malformation inherited ? | This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In the familial form, an affected person inherits the mutation from one affected parent. Most people with cerebral cavernous malformations have the sporadic form o... |
treatment | What are the treatments for cerebral cavernous malformation ? | These resources address the diagnosis or management of cerebral cavernous malformation: - Angioma Alliance: Imaging and Diagnostics - Gene Review: Gene Review: Familial Cerebral Cavernous Malformation - Genetic Testing Registry: Cerebral cavernous malformation - Genetic Testing Registry: Cerebral cavernous malforma... |
information | What is (are) succinate-CoA ligase deficiency ? | Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. Severe hypotonia delays the development of motor skills s... |
frequency | How many people are affected by succinate-CoA ligase deficiency ? | Although the exact prevalence of succinate-CoA ligase deficiency is unknown, it appears to be very rare. This condition occurs more frequently among people from the Faroe Islands in the North Atlantic Ocean. |
genetic changes | What are the genetic changes related to succinate-CoA ligase deficiency ? | Succinate-CoA ligase deficiency results from mutations in the SUCLA2 or SUCLG1 gene. SUCLG1 gene mutations can cause fatal infantile lactic acidosis, while mutations in either gene can cause the somewhat less severe form of the condition. The SUCLA2 and SUCLG1 genes each provide instructions for making one part (subun... |
inheritance | Is succinate-CoA ligase 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 succinate-CoA ligase deficiency ? | These resources address the diagnosis or management of succinate-CoA ligase deficiency: - Gene Review: Gene Review: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with... |
information | What is (are) Cowden syndrome ? | Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mou... |
frequency | How many people are affected by Cowden syndrome ? | Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people. |
genetic changes | What are the genetic changes related to Cowden syndrome ? | Changes involving at least four genes, PTEN, SDHB, SDHD, and KLLN, have been identified in people with Cowden syndrome or Cowden-like syndrome. Most cases of Cowden syndrome and a small percentage of cases of Cowden-like syndrome result from mutations in the PTEN gene. The protein produced from the PTEN gene is a tumo... |
inheritance | Is Cowden syndrome inherited ? | Cowden syndrome and Cowden-like syndrome are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition and increase the risk of developing cancer. In some cases, an affected person inherits the mutation from one affected parent. Other cases ma... |
treatment | What are the treatments for Cowden syndrome ? | These resources address the diagnosis or management of Cowden syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Cowden syndrome - Genetic Testing Registry: Cowden syndrome 1 - Genetic Testing Registry: Cowden syndrome 2 - National Cancer Institute: Genetic Testi... |
information | What is (are) familial glucocorticoid deficiency ? | Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in mainta... |
frequency | How many people are affected by familial glucocorticoid deficiency ? | The prevalence of familial glucocorticoid deficiency is unknown. |
genetic changes | What are the genetic changes related to familial glucocorticoid deficiency ? | Mutations in the MC2R, MRAP, and NNT genes account for the majority of cases of familial glucocorticoid deficiency; mutations in other genes, some known and some unidentified, can also cause this condition. The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor, whi... |
inheritance | Is familial glucocorticoid 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 familial glucocorticoid deficiency ? | These resources address the diagnosis or management of familial glucocorticoid deficiency: - Genetic Testing Registry: ACTH resistance - Genetic Testing Registry: Glucocorticoid deficiency 2 - Genetic Testing Registry: Glucocorticoid deficiency 3 - Genetic Testing Registry: Glucocorticoid deficiency 4 - Genetic Te... |
information | What is (are) caudal regression syndrome ? | Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and... |
frequency | How many people are affected by caudal regression syndrome ? | Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 newborns. This condition is much more common in infants born to mothers with diabetes when it affects an estimated 1 in 350 newborns. |
genetic changes | What are the genetic changes related to caudal regression syndrome ? | Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. It is though... |
inheritance | Is caudal regression syndrome inherited ? | Caudal regression syndrome occurs sporadically, which means it occurs in people with no history of the condition in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. |
treatment | What are the treatments for caudal regression syndrome ? | These resources address the diagnosis or management of caudal regression syndrome: - MedlinePlus Encyclopedia: Bladder Exstrophy Repair - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Inguinal Hernia Repair - MedlinePlus Encyclopedia: Neurogenic Bladder These resources from MedlinePlus offer info... |
information | What is (are) Mowat-Wilson syndrome ? | Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects. Children with Mowat-Wilson syndrome h... |
frequency | How many people are affected by Mowat-Wilson syndrome ? | The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people with this condition have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Mowat-Wilson syndrome ? | Mutations in the ZEB2 gene cause Mowat-Wilson syndrome. The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control ... |
inheritance | Is Mowat-Wilson syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Mowat-Wilson syndrome ? | These resources address the diagnosis or management of Mowat-Wilson syndrome: - Gene Review: Gene Review: Mowat-Wilson Syndrome - Genetic Testing Registry: Mowat-Wilson syndrome - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from MedlinePlus offer information about the diagnosis and management ... |
information | What is (are) intranuclear rod myopathy ? | Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infa... |
frequency | How many people are affected by intranuclear rod myopathy ? | Intranuclear rod 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 intranuclear rod myopathy ? | Intranuclear rod myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made u... |
inheritance | Is intranuclear rod myopathy inherited ? | Intranuclear rod 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 intranuclear rod myopathy ? | These resources address the diagnosis or management of intranuclear rod 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 - Ge... |
information | What is (are) craniofacial microsomia ? | Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures ... |
frequency | How many people are affected by craniofacial microsomia ? | Craniofacial microsomia has been estimated to occur in between 1 in 5,600 and 1 in 26,550 newborns. However, this range may be an underestimate because not all medical professionals agree on the criteria for diagnosis of this condition, and because mild cases may never come to medical attention. For reasons that are un... |
genetic changes | What are the genetic changes related to craniofacial microsomia ? | It is unclear what genes are involved in craniofacial microsomia. This condition results from problems in the development of structures in the embryo called the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six pairs of pharyngeal arches give rise to the muscles, ar... |
inheritance | Is craniofacial microsomia inherited ? | Craniofacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their ... |
treatment | What are the treatments for craniofacial microsomia ? | These resources address the diagnosis or management of craniofacial microsomia: - Children's Hospital and Medical Center of the University of Nebraska - Gene Review: Gene Review: Craniofacial Microsomia Overview - Genetic Testing Registry: Goldenhar syndrome - Seattle Children's Hospital - Virginia Commonwealth Un... |
information | What is (are) aromatase deficiency ? | Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone. Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly female or ... |
frequency | How many people are affected by aromatase deficiency ? | The prevalence of aromatase deficiency is unknown; approximately 20 cases have been described in the medical literature. |
genetic changes | What are the genetic changes related to aromatase deficiency ? | Mutations in the CYP19A1 gene cause aromatase deficiency. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual deve... |
inheritance | Is aromatase 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 aromatase deficiency ? | These resources address the diagnosis or management of aromatase deficiency: - Genetic Testing Registry: Aromatase deficiency - MedlinePlus Encyclopedia: Ovarian Overproduction of Androgens These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos... |
information | What is (are) cri-du-chat syndrome ? | Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed develop... |
frequency | How many people are affected by cri-du-chat syndrome ? | Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds. |
genetic changes | What are the genetic changes related to cri-du-chat syndrome ? | Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than sm... |
inheritance | Is cri-du-chat syndrome inherited ? | Most cases of cri-du-chat 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. About 10 percent of people with cri-du-chat syndrom... |
treatment | What are the treatments for cri-du-chat syndrome ? | These resources address the diagnosis or management of cri-du-chat syndrome: - Cri du Chat Syndrome Support Group (UK): Diagnosis - Cri du Chat Syndrome Support Group (UK): Therapies - Genetic Testing Registry: 5p partial monosomy syndrome - MedlinePlus Encyclopedia: Cri du Chat Syndrome These resources from Medl... |
information | What is (are) Schwartz-Jampel syndrome ? | Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. T... |
frequency | How many people are affected by Schwartz-Jampel syndrome ? | Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Schwartz-Jampel syndrome ? | Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, it is found i... |
inheritance | Is Schwartz-Jampel 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 Schwartz-Jampel syndrome ? | These resources address the diagnosis or management of Schwartz-Jampel syndrome: - Genetic Testing Registry: Schwartz Jampel syndrome type 1 - National Institute of Neurological Disorders and Stroke: Myotonia Information Page These resources from MedlinePlus offer information about the diagnosis and management of v... |
information | What is (are) Meckel syndrome ? | Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra ... |
frequency | How many people are affected by Meckel syndrome ? | Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is more common in certain populations; for example, the condition affects about 1 in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian ancestry. |
genetic changes | What are the genetic changes related to Meckel syndrome ? | Meckel syndrome can be caused by mutations in one of at least eight 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 and are involved in signaling pathways that tran... |
inheritance | Is Meckel 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 Meckel syndrome ? | These resources address the diagnosis or management of Meckel syndrome: - Genetic Testing Registry: Meckel syndrome type 1 - Genetic Testing Registry: Meckel syndrome type 2 - Genetic Testing Registry: Meckel syndrome type 3 - Genetic Testing Registry: Meckel syndrome type 4 - Genetic Testing Registry: Meckel synd... |
information | What is (are) celiac disease ? | Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten... |
frequency | How many people are affected by celiac disease ? | Celiac disease is a common disorder. Its prevalence has been estimated at about 1 in 100 people worldwide. |
genetic changes | What are the genetic changes related to celiac disease ? | The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. Th... |
inheritance | Is celiac disease inherited ? | Celiac disease tends to cluster in families. Parents, siblings, or children (first-degree relatives) of people with celiac disease have between a 4 and 15 percent chance of developing the disorder. However, the inheritance pattern is unknown. |
treatment | What are the treatments for celiac disease ? | These resources address the diagnosis or management of celiac disease: - Beth Israel Deaconess: Celiac Center - Columbia University Celiac Disease Center - Gene Review: Gene Review: Celiac Disease - Genetic Testing Registry: Celiac disease - Massachusetts General Hospital Center for Celiac Research and Treatment ... |
information | What is (are) Lesch-Nyhan syndrome ? | Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood an... |
frequency | How many people are affected by Lesch-Nyhan syndrome ? | The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations. |
genetic changes | What are the genetic changes related to Lesch-Nyhan syndrome ? | Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. The HPRT1 gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. Recycling purines ensures that cells have a pl... |
inheritance | Is Lesch-Nyhan 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... |
treatment | What are the treatments for Lesch-Nyhan syndrome ? | These resources address the diagnosis or management of Lesch-Nyhan syndrome: - Gene Review: Gene Review: Lesch-Nyhan Syndrome - Genetic Testing Registry: Lesch-Nyhan syndrome - MedlinePlus Encyclopedia: Lesch-Nyhan Syndrome - MedlinePlus Encyclopedia: Uric Acid Crystals These resources from MedlinePlus offer info... |
information | What is (are) dopa-responsive dystonia ? | Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained u... |
frequency | How many people are affected by dopa-responsive dystonia ? | Dopa-responsive dystonia is estimated to affect 1 per million people worldwide. However, the disorder is likely underdiagnosed because the condition may not be identified in people with mild symptoms, or it may be misdiagnosed in people who have symptoms similar to other movement disorders. |
genetic changes | What are the genetic changes related to dopa-responsive dystonia ? | Mutations in the GCH1 gene are the most common cause of dopa-responsive dystonia. Less often, mutations in the TH or SPR gene cause this condition. The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase. This enzyme is involved in the first of three steps in the production of a molecule cal... |
inheritance | Is dopa-responsive dystonia inherited ? | When dopa-responsive dystonia is caused by mutations in the GCH1 gene, it 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 ne... |
treatment | What are the treatments for dopa-responsive dystonia ? | These resources address the diagnosis or management of dopa-responsive dystonia: - Dartmouth-Hitchcock Children's Hospital at Dartmouth - Gene Review: Gene Review: Dystonia Overview - Gene Review: Gene Review: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia - Genetic Testing Registry: Dystonia 5, Dopa-respo... |
information | What is (are) cutis laxa ? | Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging an... |
frequency | How many people are affected by cutis laxa ? | Cutis laxa is a rare disorder. About 200 affected families worldwide have been reported. |
genetic changes | What are the genetic changes related to cutis laxa ? | Cutis laxa can be caused by mutations in the ATP6V0A2, ATP7A, EFEMP2, ELN, or FBLN5 gene. Most of these genes are involved in the formation and function of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue throughout the body. Elastic fibers allow the skin ... |
inheritance | Is cutis laxa inherited ? | Cutis laxa can have an autosomal dominant, autosomal recessive, or X-linked recessive pattern of inheritance. When cutis laxa is caused by ELN mutations, it has an autosomal dominant inheritance pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.... |
treatment | What are the treatments for cutis laxa ? | These resources address the diagnosis or management of cutis laxa: - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa - Gene Review: Gene Review: FBLN5-Related Cutis Laxa - Genetic Testin... |
information | What is (are) Bjrnstad syndrome ? | Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that g... |
frequency | How many people are affected by Bjrnstad syndrome ? | Bjrnstad syndrome is a rare condition, although its prevalence is unknown. It has been found in populations worldwide. |
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