qtype stringclasses 16
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genetic changes | What are the genetic changes related to hereditary antithrombin deficiency ? | Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity o... |
inheritance | Is hereditary antithrombin deficiency inherited ? | Hereditary antithrombin deficiency is typically inherited in an autosomal dominant pattern, which means one altered copy of the SERPINC1 gene in each cell is sufficient to cause the disorder. Inheriting two altered copies of this gene in each cell is usually incompatible with life; however, a few severely affected indi... |
treatment | What are the treatments for hereditary antithrombin deficiency ? | These resources address the diagnosis or management of hereditary antithrombin deficiency: - Genetic Testing Registry: Antithrombin III deficiency - MedlinePlus Encyclopedia: Blood Clots - MedlinePlus Encyclopedia: Congenital Antithrombin III Deficiency These resources from MedlinePlus offer information about the ... |
information | What is (are) glycogen storage disease type V ? | Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. People with GSDV typically experience fatigue, muscle pain, a... |
frequency | How many people are affected by glycogen storage disease type V ? | GSDV is a rare disorder; however, its prevalence is unknown. In the Dallas-Fort Worth area of Texas, where the prevalence of GSDV has been studied, the condition is estimated to affect 1 in 100,000 individuals. |
genetic changes | What are the genetic changes related to glycogen storage disease type V ? | Mutations in the PYGM gene cause GSDV. The PYGM gene provides instructions for making an enzyme called myophosphorylase. This enzyme is found only in muscle cells, where it breaks down glycogen into a simpler sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar tha... |
inheritance | Is glycogen storage disease type V 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 glycogen storage disease type V ? | These resources address the diagnosis or management of glycogen storage disease type V: - Gene Review: Gene Review: Glycogen Storage Disease Type V - Genetic Testing Registry: Glycogen storage disease, type V - MedlinePlus Encyclopedia: McArdle syndrome These resources from MedlinePlus offer information about the ... |
information | What is (are) COL4A1-related brain small-vessel disease ? | COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. S... |
frequency | How many people are affected by COL4A1-related brain small-vessel disease ? | COL4A1-related brain small-vessel disease is a rare condition, although the exact prevalence is unknown. At least 50 individuals with this condition have been described in the scientific literature. |
genetic changes | What are the genetic changes related to COL4A1-related brain small-vessel disease ? | As the name suggests, mutations in the COL4A1 gene cause COL4A1-related brain small vessel disease. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main c... |
inheritance | Is COL4A1-related brain small-vessel disease inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Rarely, new mutations in the gene occur in people with no history of the disorder in their family. |
treatment | What are the treatments for COL4A1-related brain small-vessel disease ? | These resources address the diagnosis or management of COL4A1-related brain small-vessel disease: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Brain small vessel disease with hemorrhage These resources from MedlinePlus offer information about the diagnosis and management of vario... |
information | What is (are) Canavan disease ? | Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that prote... |
frequency | How many people are affected by Canavan disease ? | While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown. |
genetic changes | What are the genetic changes related to Canavan disease ? | Mutations in the ASPA gene cause Canavan disease. The ASPA gene provides instructions for making an enzyme called aspartoacylase. This enzyme normally breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in the brain. The function of NAA is unclear. Researchers had suspe... |
inheritance | Is Canavan 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 Canavan disease ? | These resources address the diagnosis or management of Canavan disease: - Gene Review: Gene Review: Canavan Disease - Genetic Testing Registry: Canavan disease, mild - Genetic Testing Registry: Spongy degeneration of central nervous system - MedlinePlus Encyclopedia: Canavan Disease These resources from MedlinePl... |
information | What is (are) Brugada syndrome ? | Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seiz... |
frequency | How many people are affected by Brugada syndrome ? | The exact prevalence of Brugada syndrome is unknown, although it is estimated to affect 5 in 10,000 people worldwide. This condition occurs much more frequently in people of Asian ancestry, particularly in Japanese and Southeast Asian populations. Although Brugada syndrome affects both men and women, the condition app... |
genetic changes | What are the genetic changes related to Brugada syndrome ? | Brugada syndrome can be caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (io... |
inheritance | Is Brugada syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases may result from new mutations in the gene. These cases occur in people with no history... |
treatment | What are the treatments for Brugada syndrome ? | These resources address the diagnosis or management of Brugada syndrome: - Gene Review: Gene Review: Brugada Syndrome - Genetic Testing Registry: Brugada syndrome - Genetic Testing Registry: Brugada syndrome 1 - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about the dia... |
information | What is (are) Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Males with the SBBYS var... |
frequency | How many people are affected by Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 per million people. At least 19 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule... |
inheritance | Is Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant inherited ? | This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family. |
treatment | What are the treatments for Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | These resources address the diagnosis or management of Ohdo syndrome, SBBYS variant: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Young Simpson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... |
information | What is (are) X-linked juvenile retinoschisis ? | X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual ac... |
frequency | How many people are affected by X-linked juvenile retinoschisis ? | The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in 5,000 to 25,000 men worldwide. |
genetic changes | What are the genetic changes related to X-linked juvenile retinoschisis ? | Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina. The protein is probably involved in... |
inheritance | Is X-linked juvenile retinoschisis 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 X-linked juvenile retinoschisis ? | These resources address the diagnosis or management of X-linked juvenile retinoschisis: - Gene Review: Gene Review: X-Linked Juvenile Retinoschisis - Genetic Testing Registry: Juvenile retinoschisis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... |
information | What is (are) bradyopsia ? | Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into ... |
frequency | How many people are affected by bradyopsia ? | Bradyopsia appears to be rare. Only a few affected individuals worldwide have been described in the medical literature. |
genetic changes | What are the genetic changes related to bradyopsia ? | Bradyopsia can be caused by mutations in the RGS9 gene or in the RGS9BP gene (which is also known as R9AP). These genes provide instructions for making proteins that are necessary for normal vision. The proteins are found in light-detecting cells in the eye called photoreceptors. When light enters the eye, it stimulate... |
inheritance | Is bradyopsia 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 bradyopsia ? | These resources address the diagnosis or management of bradyopsia: - Children's Hospital of Pittsburgh: Electroretinogram - Genetic Testing Registry: Prolonged electroretinal response suppression - MedlinePlus Encyclopedia: Electroretinography - Prevent Blindness: Living Well with Low Vision These resources from ... |
information | What is (are) Stargardt macular degeneration ? | Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The ma... |
frequency | How many people are affected by Stargardt macular degeneration ? | Stargardt macular degeneration is the most common form of juvenile macular degeneration, the signs and symptoms of which begin in childhood. The estimated prevalence of Stargardt macular degeneration is 1 in 8,000 to 10,000 individuals. |
genetic changes | What are the genetic changes related to Stargardt macular degeneration ? | In most cases, Stargardt macular degeneration is caused by mutations in the ABCA4 gene. Less often, mutations in the ELOVL4 gene cause this condition. The ABCA4 and ELOVL4 genes provide instructions for making proteins that are found in light-sensing (photoreceptor) cells in the retina. The ABCA4 protein transports po... |
inheritance | Is Stargardt macular degeneration inherited ? | Stargardt macular degeneration can have different inheritance patterns. When mutations in the ABCA4 gene cause this condition, 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 carr... |
treatment | What are the treatments for Stargardt macular degeneration ? | These resources address the diagnosis or management of Stargardt macular degeneration: - Genetic Testing Registry: Stargardt Disease 3 - Genetic Testing Registry: Stargardt disease 1 - Genetic Testing Registry: Stargardt disease 4 These resources from MedlinePlus offer information about the diagnosis and managemen... |
information | What is (are) essential pentosuria ? | Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. |
frequency | How many people are affected by essential pentosuria ? | Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected. |
genetic changes | What are the genetic changes related to essential pentosuria ? | Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl/L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xy... |
inheritance | Is essential pentosuria 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 essential pentosuria ? | These resources address the diagnosis or management of essential pentosuria: - Genetic Testing Registry: Essential pentosuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti... |
information | What is (are) leptin receptor deficiency ? | Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early c... |
frequency | How many people are affected by leptin receptor deficiency ? | The prevalence of leptin receptor deficiency is unknown. It has been estimated to account for up to 3 percent of individuals with severe obesity and hyperphagia that begins in early childhood. |
genetic changes | What are the genetic changes related to leptin receptor deficiency ? | Leptin receptor deficiency is caused by mutations in the LEPR gene. This gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of... |
inheritance | Is leptin receptor 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 leptin receptor deficiency ? | These resources address the diagnosis or management of leptin receptor deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Leptin receptor deficiency - Genetics of Obesity Study - National Heart, Lung, a... |
information | What is (are) Loeys-Dietz syndrome ? | Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. There are four types of Loeys-Dietz syndrome, labelled types I through IV, which are distinguished by ... |
frequency | How many people are affected by Loeys-Dietz syndrome ? | The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms. |
genetic changes | What are the genetic changes related to Loeys-Dietz syndrome ? | The four types of Loeys-Dietz syndrome are distinguished by their genetic cause: mutations in the TGFBR1 gene cause type I, mutations in the TGFBR2 gene cause type II, mutations in the SMAD3 gene cause type III, and mutations in the TGFB2 gene cause type IV. These four genes play a role in cell signaling that promotes ... |
inheritance | Is Loeys-Dietz syndrome inherited ? | Loeys-Dietz syndrome is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their ... |
treatment | What are the treatments for Loeys-Dietz syndrome ? | These resources address the diagnosis or management of Loeys-Dietz syndrome: - Gene Review: Gene Review: Loeys-Dietz Syndrome - Genetic Testing Registry: Loeys-Dietz syndrome - Genetic Testing Registry: Loeys-Dietz syndrome 1 - Genetic Testing Registry: Loeys-Dietz syndrome 2 - Genetic Testing Registry: Loeys-Diet... |
information | What is (are) nephrogenic diabetes insipidus ? | Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly b... |
frequency | How many people are affected by nephrogenic diabetes insipidus ? | The prevalence of nephrogenic diabetes insipidus is unknown, although the condition is thought to be rare. The acquired form occurs more frequently than the hereditary form. |
genetic changes | What are the genetic changes related to nephrogenic diabetes insipidus ? | The hereditary form of nephrogenic diabetes insipidus can be caused by mutations in at least two genes. About 90 percent of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene. Most of the remaining 10 percent of cases are caused by mutations in the AQP2 gene. Both of these ge... |
inheritance | Is nephrogenic diabetes insipidus inherited ? | When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene 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 su... |
treatment | What are the treatments for nephrogenic diabetes insipidus ? | These resources address the diagnosis or management of nephrogenic diabetes insipidus: - Gene Review: Gene Review: Nephrogenic Diabetes Insipidus - Genetic Testing Registry: Nephrogenic diabetes insipidus - Genetic Testing Registry: Nephrogenic diabetes insipidus, X-linked - Genetic Testing Registry: Nephrogenic di... |
information | What is (are) leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that tr... |
frequency | How many people are affected by leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | LBSL is a rare condition. Its exact prevalence is not known. |
genetic changes | What are the genetic changes related to leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | LBSL is caused by mutations in the DARS2 gene, which provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesi... |
inheritance | Is leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation inherited ? | LBSL is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In this condition, each copy of the gene carries a different mutation (compound heterozygous mutations). An affected individual never has the same mutation in both copies of the gene (a homozygous mutat... |
treatment | What are the treatments for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | These resources address the diagnosis or management of LBSL: - Gene Review: Gene Review: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Genetic Testing Registry: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation These resources from Medline... |
information | What is (are) Waardenburg syndrome ? | Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birt... |
frequency | How many people are affected by Waardenburg syndrome ? | Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare. |
genetic changes | What are the genetic changes related to Waardenburg syndrome ? | Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye ... |
inheritance | Is Waardenburg syndrome inherited ? | Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur... |
treatment | What are the treatments for Waardenburg syndrome ? | These resources address the diagnosis or management of Waardenburg syndrome: - Gene Review: Gene Review: Waardenburg Syndrome Type I - Genetic Testing Registry: Klein-Waardenberg's syndrome - Genetic Testing Registry: Waardenburg syndrome type 1 - Genetic Testing Registry: Waardenburg syndrome type 2A - Genetic Te... |
information | What is (are) glutaric acidemia type I ? | Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these a... |
frequency | How many people are affected by glutaric acidemia type I ? | Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected. |
genetic changes | What are the genetic changes related to glutaric acidemia type I ? | Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the pro... |
inheritance | Is glutaric acidemia type I 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 glutaric acidemia type I ? | These resources address the diagnosis or management of glutaric acidemia type I: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surger... |
information | What is (are) pseudohypoaldosteronism type 2 ? | Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys. People with PHA2 have high blood pressure (hypertension) and h... |
frequency | How many people are affected by pseudohypoaldosteronism type 2 ? | PHA2 is a rare condition; however, the prevalence is unknown. |
genetic changes | What are the genetic changes related to pseudohypoaldosteronism type 2 ? | PHA2 can be caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. These genes play a role in the regulation of blood pressure. The proteins produced from the WNK1 and WNK4 genes help control the amount of sodium and potassium in the body by regulating channels in the cell membrane that control the transport of s... |
inheritance | Is pseudohypoaldosteronism type 2 inherited ? | This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent. While some cases caused ... |
treatment | What are the treatments for pseudohypoaldosteronism type 2 ? | These resources address the diagnosis or management of pseudohypoaldosteronism type 2: - Gene Review: Gene Review: Pseudohypoaldosteronism Type II - Genetic Testing Registry: Pseudohypoaldosteronism, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health condi... |
information | What is (are) nonsyndromic hearing loss ? | Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. Nonsyndromic hearing loss can be classified in several different ways. One common way is by the con... |
frequency | How many people are affected by nonsyndromic hearing loss ? | Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. By age 85, more than half of all people experience ... |
genetic changes | What are the genetic changes related to nonsyndromic hearing loss ? | The causes of nonsyndromic hearing loss are complex. Researchers have identified more than 90 genes that, when altered, are associated with nonsyndromic hearing loss. Many of these genes are involved in the development and function of the inner ear. Mutations in these genes contribute to hearing loss by interfering wit... |
inheritance | Is nonsyndromic hearing loss inherited ? | As discussed above, nonsyndromic hearing loss has different patterns of inheritance. Between 75 and 80 percent of cases are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries on... |
treatment | What are the treatments for nonsyndromic hearing loss ? | These resources address the diagnosis or management of nonsyndromic hearing loss: - Baby's First Test: Hearing Loss - Gene Review: Gene Review: Deafness and Hereditary Hearing Loss Overview - Genetic Testing Registry: Deafness, X-linked - Genetic Testing Registry: Hereditary hearing loss and deafness - Genetic Tes... |
information | What is (are) cap myopathy ? | Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscl... |
frequency | How many people are affected by cap myopathy ? | Cap 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 cap myopathy ? | Mutations in the ACTA1, TPM2, or TPM3 genes can cause cap myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. The ACTA1 gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. Actin proteins ... |
inheritance | Is cap myopathy inherited ? | Cap 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 cap myopathy ? | These resources address the diagnosis or management of cap myopathy: - Genetic Testing Registry: TPM2-related cap myopathy - Genetic Testing Registry: cap myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... |
information | What is (are) Donnai-Barrow syndrome ? | Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hai... |
frequency | How many people are affected by Donnai-Barrow syndrome ? | Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a rare disorder. A few dozen affected individuals have been reported in many regions of the world. |
genetic changes | What are the genetic changes related to Donnai-Barrow syndrome ? | Mutations in the LRP2 gene cause Donnai-Barrow syndrome. The LRP2 gene provides instructions for making a protein called megalin, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigge... |
inheritance | Is Donnai-Barrow syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In almost all cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition. ... |
treatment | What are the treatments for Donnai-Barrow syndrome ? | These resources address the diagnosis or management of Donnai-Barrow syndrome: - Gene Review: Gene Review: Donnai-Barrow Syndrome - Genetic Testing Registry: Donnai Barrow syndrome - MedlinePlus Encyclopedia: Diaphragmatic Hernia - MedlinePlus Encyclopedia: Hearing Loss - Infants - MedlinePlus Encyclopedia: Omphal... |
information | What is (are) renal coloboma syndrome ? | Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when th... |
frequency | How many people are affected by renal coloboma syndrome ? | The prevalence of renal coloboma syndrome is unknown; at least 60 cases have been reported in the scientific literature. |
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