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genetic changes | What are the genetic changes related to congenital hyperinsulinism ? | Congenital hyperinsulinism is caused by mutations in genes that regulate the release (secretion) of insulin, which is produced by beta cells in the pancreas. Insulin clears excess sugar (in the form of glucose) from the bloodstream by passing glucose into cells to be used as energy. Gene mutations that cause congenita... |
inheritance | Is congenital hyperinsulinism inherited ? | Congenital hyperinsulinism can have different inheritance patterns, usually depending on the form of the condition. At least two forms of the condition have been identified. The most common form is the diffuse form, which occurs when all of the beta cells in the pancreas secrete too much insulin. The focal form of cong... |
treatment | What are the treatments for congenital hyperinsulinism ? | These resources address the diagnosis or management of congenital hyperinsulinism: - Gene Review: Gene Review: Familial Hyperinsulinism - Genetic Testing Registry: Exercise-induced hyperinsulinemic hypoglycemia - Genetic Testing Registry: Familial hyperinsulinism - Genetic Testing Registry: Hyperinsulinemic hypogly... |
information | What is (are) Floating-Harbor syndrome ? | Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital i... |
frequency | How many people are affected by Floating-Harbor syndrome ? | Floating-Harbor syndrome is a rare disorder; only about 50 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Floating-Harbor syndrome ? | Floating-Harbor syndrome is caused by mutations in the SRCAP gene. This gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene plays a key role in regulati... |
inheritance | Is Floating-Harbor 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. Most cases of Floating-Harbor syndrome result from new mutations in the gene and occur in people with no history of the disorder in their family. However, in some cas... |
treatment | What are the treatments for Floating-Harbor syndrome ? | These resources address the diagnosis or management of Floating-Harbor syndrome: - Gene Review: Gene Review: Floating-Harbor Syndrome - Genetic Testing Registry: Floating-Harbor syndrome - KidsHealth: Bone Age Study These resources from MedlinePlus offer information about the diagnosis and management of various he... |
information | What is (are) dilated cardiomyopathy with ataxia syndrome ? | Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems. Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition that weak... |
frequency | How many people are affected by dilated cardiomyopathy with ataxia syndrome ? | DCMA syndrome is a very rare disorder. Approximately 30 cases have been identified in the Dariusleut Hutterite population of the Great Plains region of Canada. Only a few affected individuals have been identified outside this population. |
genetic changes | What are the genetic changes related to dilated cardiomyopathy with ataxia syndrome ? | Mutations in the DNAJC19 gene cause DCMA syndrome. The DNAJC19 gene provides instructions for making a protein found in structures called mitochondria, which are the energy-producing centers of cells. While the exact function of the DNAJC19 protein is unclear, it may regulate the transport of other proteins into and ou... |
inheritance | Is dilated cardiomyopathy with ataxia 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 dilated cardiomyopathy with ataxia syndrome ? | These resources address the diagnosis or management of dilated cardiomyopathy with ataxia syndrome: - Ann & Robert H. Lurie Children's Hospital of Chicago: Cardiomyopathy - Baby's First Test - Genetic Testing Registry: 3-methylglutaconic aciduria type V - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - National... |
information | What is (are) Sjgren syndrome ? | Sjgren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but can occur at any age. Sjgren syndrome is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the b... |
frequency | How many people are affected by Sjgren syndrome ? | Sjgren syndrome is a relatively common disorder; it occurs in 0.1 to 4 percent of the population. It is difficult to determine the exact prevalence because the characteristic features of this disorder, dry eyes and dry mouth, can also be caused by many other conditions. Women develop Sjgren syndrome about 10 times more... |
genetic changes | What are the genetic changes related to Sjgren syndrome ? | Sjgren syndrome is thought to result from a combination of genetic and environmental factors; however, no associations between specific genetic changes and the development of Sjgren syndrome have been confirmed. Researchers believe that variations in many genes affect the risk of developing Sjgren syndrome, but that de... |
inheritance | Is Sjgren syndrome inherited ? | A predisposition to develop autoimmune disorders can be passed through generations in families. Relatives of people with Sjgren syndrome are at an increased risk of developing autoimmune diseases, although they are not necessarily more likely to develop Sjgren syndrome in particular. The inheritance pattern of this pre... |
treatment | What are the treatments for Sjgren syndrome ? | These resources address the diagnosis or management of Sjgren syndrome: - Genetic Testing Registry: Sjgren's syndrome - MedlinePlus Encyclopedia: Schirmer's Test - National Institute of Dental and Craniofacial Research: Sjgren's Syndrome Clinic - Sjgren's Syndrome Foundation: Treatments These resources from Medli... |
information | What is (are) spinocerebellar ataxia type 1 ? | Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakne... |
frequency | How many people are affected by spinocerebellar ataxia type 1 ? | SCA1 affects 1 to 2 per 100,000 people worldwide. |
genetic changes | What are the genetic changes related to spinocerebellar ataxia type 1 ? | Mutations in the ATXN1 gene cause SCA1. The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown. Within cells, ataxin-1 is located in the nucleus. Researchers believe that ataxin-1 may be involved in regulating various aspects of ... |
inheritance | Is spinocerebellar ataxia type 1 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. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA1 do not have a parent with the disorder. As the altered A... |
treatment | What are the treatments for spinocerebellar ataxia type 1 ? | These resources address the diagnosis or management of SCA1: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 1 - Genetic Testing Registry: Spinocerebellar ataxia 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... |
information | What is (are) MEGDEL syndrome ? | MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L). MEGDEL syndrome is characterized by abnormally high levels of an acid, called 3-methylglutaconic acid, i... |
frequency | How many people are affected by MEGDEL syndrome ? | MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 affected individuals have been mentioned in the medical literature. |
genetic changes | What are the genetic changes related to MEGDEL syndrome ? | MEGDEL syndrome is caused by mutations in the SERAC1 gene. The function of the protein produced from this gene is not completely understood, although research suggests that it is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid known as phosphatidylglycerol. Another phosp... |
inheritance | Is MEGDEL 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 MEGDEL syndrome ? | These resources address the diagnosis or management of MEGDEL syndrome: - Baby's First Test: 3-Methylglutaconic Aciduria - Gene Review: Gene Review: MEGDEL Syndrome - Genetic Testing Registry: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome These resources from MedlinePlus offer ... |
information | What is (are) spinal muscular atrophy with progressive myoclonic epilepsy ? | Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized... |
frequency | How many people are affected by spinal muscular atrophy with progressive myoclonic epilepsy ? | SMA-PME is a rare disorder; approximately a dozen affected families have been described in the scientific literature. |
genetic changes | What are the genetic changes related to spinal muscular atrophy with progressive myoclonic epilepsy ? | SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosi... |
inheritance | Is spinal muscular atrophy with progressive myoclonic epilepsy 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 spinal muscular atrophy with progressive myoclonic epilepsy ? | These resources address the diagnosis or management of spinal muscular atrophy with progressive myoclonic epilepsy: - Genetic Testing Registry: Jankovic Rivera syndrome - Muscular Dystrophy Association: Spinal Muscular Atrophy Types These resources from MedlinePlus offer information about the diagnosis and manageme... |
information | What is (are) Coats plus syndrome ? | Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. The disorder cause... |
frequency | How many people are affected by Coats plus syndrome ? | Coats plus syndrome appears to be a rare disorder. Its prevalence is unknown. |
genetic changes | What are the genetic changes related to Coats plus syndrome ? | Coats plus syndrome results from mutations in the CTC1 gene. This gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. Telomeres are short, repetitive segments of DNA that help protect chromosomes from abnormally stick... |
inheritance | Is Coats plus 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 Coats plus syndrome ? | These resources address the diagnosis or management of Coats plus syndrome: - Genetic Testing Registry: Cerebroretinal microangiopathy with calcifications and cysts These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... |
information | What is (are) retinoblastoma ? | Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color. In most children with retinoblastoma, the disease affects... |
frequency | How many people are affected by retinoblastoma ? | Retinoblastoma is diagnosed in 250 to 350 children per year in the United States. It accounts for about 4 percent of all cancers in children younger than 15 years. |
genetic changes | What are the genetic changes related to retinoblastoma ? | Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and keeps cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so it is unabl... |
inheritance | Is retinoblastoma inherited ? | Researchers estimate that 40 percent of all retinoblastomas are germinal, which means that RB1 mutations occur in all of the body's cells, including reproductive cells (sperm or eggs). People with germinal retinoblastoma may have a family history of the disease, and they are at risk of passing on the mutated RB1 gene t... |
treatment | What are the treatments for retinoblastoma ? | These resources address the diagnosis or management of retinoblastoma: - Gene Review: Gene Review: Retinoblastoma - Genetic Testing Registry: Retinoblastoma - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Retinoblastoma - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes ... |
information | What is (are) Donohue syndrome ? | Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into... |
frequency | How many people are affected by Donohue syndrome ? | Donohue syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Donohue syndrome ? | Donohue syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream.... |
inheritance | Is Donohue 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 Donohue syndrome ? | These resources address the diagnosis or management of Donohue syndrome: - Genetic Testing Registry: Leprechaunism syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ... |
information | What is (are) amelogenesis imperfecta ? | Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and... |
frequency | How many people are affected by amelogenesis imperfecta ? | The exact incidence of amelogenesis imperfecta is uncertain. Estimates vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in the United States. |
genetic changes | What are the genetic changes related to amelogenesis imperfecta ? | Mutations in the AMELX, ENAM, MMP20, and FAM83H genes can cause amelogenesis imperfecta. The AMELX, ENAM, and MMP20 genes provide instructions for making proteins that are essential for normal tooth development. Most of these proteins are involved in the formation of enamel, which is the hard, calcium-rich material tha... |
inheritance | Is amelogenesis imperfecta inherited ? | Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. Many cases are caused by mutations in the FAM83H gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. S... |
treatment | What are the treatments for amelogenesis imperfecta ? | These resources address the diagnosis or management of amelogenesis imperfecta: - Genetic Testing Registry: Amelogenesis imperfecta - hypoplastic autosomal dominant - local - Genetic Testing Registry: Amelogenesis imperfecta, hypocalcification type - Genetic Testing Registry: Amelogenesis imperfecta, type 1E - Gene... |
information | What is (are) Roberts syndrome ? | Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in half of all people with Roberts syndrome. Children with Roberts syndrome are born with abnormalities of all four limbs. T... |
frequency | How many people are affected by Roberts syndrome ? | Roberts syndrome is a rare disorder; approximately 150 affected individuals have been reported. |
genetic changes | What are the genetic changes related to Roberts syndrome ? | Mutations in the ESCO2 gene cause Roberts syndrome. This gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, c... |
inheritance | Is Roberts 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 Roberts syndrome ? | These resources address the diagnosis or management of Roberts syndrome: - Gene Review: Gene Review: Roberts Syndrome - Genetic Testing Registry: Roberts-SC phocomelia syndrome - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer informa... |
information | What is (are) familial paroxysmal nonkinesigenic dyskinesia ? | Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movemen... |
frequency | How many people are affected by familial paroxysmal nonkinesigenic dyskinesia ? | Familial paroxysmal nonkinesigenic dyskinesia is a very rare disorder. Its prevalence is estimated to be 1 in 5 million people. |
genetic changes | What are the genetic changes related to familial paroxysmal nonkinesigenic dyskinesia ? | Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research ha... |
inheritance | Is familial paroxysmal nonkinesigenic dyskinesia inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. Almost everyone with a mutation in the PNKD gene will develop familial paroxysmal nonkinesigenic dyskinesia. In all reported cases, an affected person has in... |
treatment | What are the treatments for familial paroxysmal nonkinesigenic dyskinesia ? | These resources address the diagnosis or management of familial paroxysmal nonkinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Nonkinesigenic Dyskinesia - Genetic Testing Registry: Paroxysmal choreoathetosis - Genetic Testing Registry: Paroxysmal nonkinesigenic dyskinesia 2 These resources f... |
information | What is (are) Wolfram syndrome ? | Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the br... |
frequency | How many people are affected by Wolfram syndrome ? | The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. Approximately 200 cases have been described in the scientific literature. Only a few families from Jordan have been found to have Wolfram syndrome type 2. |
genetic changes | What are the genetic changes related to Wolfram syndrome ? | Mutations in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases. This gene provides instructions for producing a protein called wolframin that is thought to regulate the amount of calcium in cells. A proper calcium balance is important for many different cellular functions, including cell-to-cell... |
inheritance | Is Wolfram syndrome inherited ? | When Wolfram syndrome is caused by mutations in the WFS1 gene, it 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 si... |
treatment | What are the treatments for Wolfram syndrome ? | These resources address the diagnosis or management of Wolfram syndrome: - Gene Review: Gene Review: WFS1-Related Disorders - Genetic Testing Registry: Diabetes mellitus AND insipidus with optic atrophy AND deafness - Genetic Testing Registry: Wolfram syndrome 2 - Johns Hopkins Medicine: Diabetes Insipidus - Medli... |
information | What is (are) preeclampsia ? | Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension) and can also have abnormally high levels of protein in their urine. This condition usually occurs in the last few months of pregnancy and often requires the early delivery of the infant. Many women with mild ... |
frequency | How many people are affected by preeclampsia ? | Preeclampsia is a common condition in all populations, occurring in 2 to 8 percent of pregnancies. It occurs more frequently in women of African or Hispanic descent than it does in women of European descent. |
genetic changes | What are the genetic changes related to preeclampsia ? | The specific causes of preeclampsia are not well understood. In pregnancy, blood volume normally increases to support the fetus, and the mother's body must adjust to handle this extra fluid. In some women the body does not react normally to the fluid changes of pregnancy, leading to the problems with high blood pressur... |
inheritance | Is preeclampsia inherited ? | Most cases of preeclampsia do not seem to be inherited. The tendency to develop preeclampsia does seem to run in some families; however, the inheritance pattern is unknown. |
treatment | What are the treatments for preeclampsia ? | These resources address the diagnosis or management of preeclampsia: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Preeclampsia, Eclampsia, and HELLP syndrome? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: ... |
information | What is (are) Ollier disease ? | Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the s... |
frequency | How many people are affected by Ollier disease ? | Ollier disease is estimated to occur in 1 in 100,000 people. |
genetic changes | What are the genetic changes related to Ollier disease ? | In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutar... |
inheritance | Is Ollier disease inherited ? | Ollier disease is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Ollier disease, the mutation is thought... |
treatment | What are the treatments for Ollier disease ? | These resources address the diagnosis or management of Ollier disease: - Genetic Testing Registry: Enchondromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... |
information | What is (are) autosomal recessive hypotrichosis ? | Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fr... |
frequency | How many people are affected by autosomal recessive hypotrichosis ? | The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals. |
genetic changes | What are the genetic changes related to autosomal recessive hypotrichosis ? | Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. These cell processes are important for the nor... |
inheritance | Is autosomal recessive hypotrichosis 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 autosomal recessive hypotrichosis ? | These resources address the diagnosis or management of autosomal recessive hypotrichosis: - American Academy of Dermatology: Hair Loss: Tips for Managing - Genetic Testing Registry: Hypotrichosis 8 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: -... |
information | What is (are) Liddle syndrome ? | Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or s... |
frequency | How many people are affected by Liddle syndrome ? | Liddle syndrome is a rare condition, although its prevalence is unknown. The condition has been found in populations worldwide. |
genetic changes | What are the genetic changes related to Liddle syndrome ? | Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. Each of these genes provides instructions for making a piece (subunit) of a protein complex called the epithelial sodium channel (ENaC). These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, incl... |
inheritance | Is Liddle 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 Liddle syndrome ? | These resources address the diagnosis or management of Liddle syndrome: - Genetic Testing Registry: Pseudoprimary hyperaldosteronism - Merck Manual for Health Care Professionals These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... |
information | What is (are) familial male-limited precocious puberty ? | Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, unde... |
frequency | How many people are affected by familial male-limited precocious puberty ? | Familial male-limited precocious puberty is a rare disorder; its prevalence is unknown. |
genetic changes | What are the genetic changes related to familial male-limited precocious puberty ? | Familial male-limited precocious puberty can be caused by mutations in the LHCGR gene. This gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into... |
inheritance | Is familial male-limited precocious puberty inherited ? | This condition is inherited in an autosomal dominant, male-limited pattern, which means one copy of the altered LHCGR gene in each cell is sufficient to cause the disorder in males. Females with mutations associated with familial male-limited precocious puberty appear to be unaffected. In some cases, an affected male i... |
treatment | What are the treatments for familial male-limited precocious puberty ? | These resources address the diagnosis or management of familial male-limited precocious puberty: - Boston Children's Hospital: Precocious Puberty - Genetic Testing Registry: Gonadotropin-independent familial sexual precocity These resources from MedlinePlus offer information about the diagnosis and management of va... |
information | What is (are) pantothenate kinase-associated neurodegeneration ? | Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble w... |
frequency | How many people are affected by pantothenate kinase-associated neurodegeneration ? | The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide. |
genetic changes | What are the genetic changes related to pantothenate kinase-associated neurodegeneration ? | Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration. The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it plays a critical role in the formation of a molecule cal... |
inheritance | Is pantothenate kinase-associated neurodegeneration 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 pantothenate kinase-associated neurodegeneration ? | These resources address the diagnosis or management of pantothenate kinase-associated neurodegeneration: - Gene Review: Gene Review: Pantothenate Kinase-Associated Neurodegeneration - Genetic Testing Registry: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration - MedlinePlus E... |
information | What is (are) xeroderma pigmentosum ? | Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. The sig... |
frequency | How many people are affected by xeroderma pigmentosum ? | Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 in 1 million people in the United States and Europe. The condition is more common in Japan, North Africa, and the Middle East. |
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