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genetic changes | What are the genetic changes related to triple A syndrome ? | Mutations in the AAAS gene cause triple A syndrome. This gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location,... |
inheritance | Is triple A 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 triple A syndrome ? | These resources address the diagnosis or management of triple A syndrome: - Genetic Testing Registry: Glucocorticoid deficiency with achalasia - MedlinePlus Encyclopedia: Achalasia - MedlinePlus Encyclopedia: Anisocoria These resources from MedlinePlus offer information about the diagnosis and management of variou... |
information | What is (are) ichthyosis with confetti ? | Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by r... |
frequency | How many people are affected by ichthyosis with confetti ? | Ichthyosis with confetti is a rare disorder. Fewer than 20 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to ichthyosis with confetti ? | Mutations in the KRT10 gene cause ichthyosis with confetti. This gene provides instructions for making a protein called keratin 10, which is found in cells called keratinocytes in the outer layer of the skin (the epidermis). In the fluid-filled space inside these cells (the cytoplasm), this tough, fibrous protein attac... |
inheritance | Is ichthyosis with confetti inherited ? | Ichthyosis with confetti 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. Usually, the condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation). In these... |
treatment | What are the treatments for ichthyosis with confetti ? | These resources address the diagnosis or management of ichthyosis with confetti: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Foundation for Ichthyosis and Related Skin Types (FIRST): Treating Ichthyosis These resources from MedlinePlus offer information about the diagnosis and manag... |
information | What is (are) congenital leptin deficiency ? | Congenital leptin 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. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia... |
frequency | How many people are affected by congenital leptin deficiency ? | Congenital leptin deficiency is a rare disorder. Only a few dozen cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to congenital leptin deficiency ? | Congenital leptin deficiency is caused by mutations in the LEP gene. This gene provides instructions for making a hormone called leptin, which is involved in the regulation of body weight. Normally, the body's fat cells release leptin in proportion to their size. As fat accumulates in cells, more leptin is produced. Th... |
inheritance | Is congenital leptin 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 leptin deficiency ? | These resources address the diagnosis or management of congenital leptin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Obesity, severe, due to leptin deficiency - Genetics of Obesity Study - Nation... |
information | What is (are) erythromelalgia ? | Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also tr... |
frequency | How many people are affected by erythromelalgia ? | The prevalence of erythromelalgia is unknown. |
genetic changes | What are the genetic changes related to erythromelalgia ? | Mutations in the SCN9A gene can cause erythromelalgia. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit elect... |
inheritance | Is erythromelalgia inherited ? | Some cases of erythromelalgia occur in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these instances, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in p... |
treatment | What are the treatments for erythromelalgia ? | These resources address the diagnosis or management of erythromelalgia: - Gene Review: Gene Review: SCN9A-Related Inherited Erythromelalgia - Genetic Testing Registry: Primary erythromelalgia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... |
information | What is (are) glucose phosphate isomerase deficiency ? | Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of... |
frequency | How many people are affected by glucose phosphate isomerase deficiency ? | GPI deficiency is a rare cause of hemolytic anemia; its prevalence is unknown. About 50 cases have been described in the medical literature. |
genetic changes | What are the genetic changes related to glucose phosphate isomerase deficiency ? | GPI deficiency is caused by mutations in the GPI gene, which provides instructions for making an enzyme called glucose phosphate isomerase (GPI). This enzyme has two distinct functions based on its structure. When two GPI molecules form a complex (a homodimer), the enzyme plays a role in a critical energy-producing pro... |
inheritance | Is glucose phosphate isomerase 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 glucose phosphate isomerase deficiency ? | These resources address the diagnosis or management of GPI deficiency: - Genetic Testing Registry: Glucosephosphate isomerase deficiency - Genetic Testing Registry: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Dia... |
information | What is (are) glucose-6-phosphate dehydrogenase deficiency ? | Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood ce... |
frequency | How many people are affected by glucose-6-phosphate dehydrogenase deficiency ? | An estimated 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. This condition occurs most frequently in certain parts of Africa, Asia, and the Mediterranean. It affects about 1 in 10 African American males in the United States. |
genetic changes | What are the genetic changes related to glucose-6-phosphate dehydrogenase deficiency ? | Mutations in the G6PD gene cause glucose-6-phosphate dehydrogenase deficiency. The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is involved in the normal processing of carbohydrates. It also protects red blood cells from the effects of potentially harmful m... |
inheritance | Is glucose-6-phosphate dehydrogenase deficiency 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 glucose-6-phosphate dehydrogenase deficiency ? | These resources address the diagnosis or management of glucose-6-phosphate dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Glucose 6 phosphate dehydrogenase deficiency - MedlinePlus Encyclopedia: Glucose-6-phosphate dehydrogenase deficiency - MedlinePlus Encyclopedia: Glucose-6-phosphate d... |
information | What is (are) North American Indian childhood cirrhosis ? | North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrho... |
frequency | How many people are affected by North American Indian childhood cirrhosis ? | North American Indian childhood cirrhosis has been found only in children of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At least 30 affected individuals from this population have been reported. |
genetic changes | What are the genetic changes related to North American Indian childhood cirrhosis ? | North American Indian childhood cirrhosis results from at least one known mutation in the UTP4 gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus wher... |
inheritance | Is North American Indian childhood cirrhosis 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 North American Indian childhood cirrhosis ? | These resources address the diagnosis or management of North American Indian childhood cirrhosis: - Children's Organ Transplant Association - Genetic Testing Registry: North american indian childhood cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health co... |
information | What is (are) factor XIII deficiency ? | Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime. Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. If the condi... |
frequency | How many people are affected by factor XIII deficiency ? | Inherited factor XIII deficiency affects 1 to 3 per million people worldwide. Researchers suspect that mild factor XIII deficiency, including the acquired form of the disorder, is underdiagnosed because many affected people never have a major episode of abnormal bleeding that would lead to a diagnosis. |
genetic changes | What are the genetic changes related to factor XIII deficiency ? | Inherited factor XIII deficiency results from mutations in the F13A1 gene or, less commonly, the F13B gene. These genes provide instructions for making the two parts (subunits) of a protein called factor XIII. This protein plays a critical role in the coagulation cascade, which is a series of chemical reactions that fo... |
inheritance | Is factor XIII deficiency inherited ? | Inherited factor XIII deficiency is considered to have an autosomal recessive pattern of inheritance, which means that it results when both copies of either the F13A1 gene or the F13B gene in each cell have mutations. Some people, including parents of individuals with factor XIII deficiency, carry a single mutated cop... |
treatment | What are the treatments for factor XIII deficiency ? | These resources address the diagnosis or management of factor XIII deficiency: - Genetic Testing Registry: Factor xiii, a subunit, deficiency of - Genetic Testing Registry: Factor xiii, b subunit, deficiency of These resources from MedlinePlus offer information about the diagnosis and management of various health c... |
information | What is (are) cryptogenic cirrhosis ? | Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood. The liver is a part of the digestive system that helps break down food, store energy, and remove waste produc... |
frequency | How many people are affected by cryptogenic cirrhosis ? | Cirrhosis affects more than 600,000 people in the United States; cryptogenic cirrhosis likely accounts for 5 to 30 percent of these cases. |
genetic changes | What are the genetic changes related to cryptogenic cirrhosis ? | Unlike most cases of cirrhosis, cryptogenic cirrhosis is not caused by the hepatitis C or B virus or chronic alcohol use. A diagnosis of cryptogenic cirrhosis is typically given when all other causes of cirrhosis have been ruled out. When a disorder occurs without an apparent underlying reason, it is described as crypt... |
inheritance | Is cryptogenic cirrhosis inherited ? | Most cases of cryptogenic cirrhosis are not inherited. However, people with a family history of liver disease or autoimmune disease are at an increased risk of developing these diseases themselves, and possibly cirrhosis. In individuals with an associated keratin gene mutation, the risk of developing cryptogenic cirrh... |
treatment | What are the treatments for cryptogenic cirrhosis ? | These resources address the diagnosis or management of cryptogenic cirrhosis: - Children's Hospital of Pittsburgh: Cirrhosis - Cleveland Clinic: Cirrhosis of the Liver - Genetic Testing Registry: Cirrhosis, cryptogenic - Genetic Testing Registry: Familial cirrhosis - MedlinePlus Encyclopedia: Cirrhosis These res... |
information | What is (are) medullary cystic kidney disease type 1 ? | Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. They also reabsorb needed nutrients and release them back in... |
frequency | How many people are affected by medullary cystic kidney disease type 1 ? | MCKD1 is a rare disorder, although its prevalence is unknown. |
genetic changes | What are the genetic changes related to medullary cystic kidney disease type 1 ? | MCKD1 is caused by mutations in the MUC1 gene. This gene provides instructions for making a protein called mucin 1, which is one of several mucin proteins that make up mucus. Mucus is a slippery substance that lubricates the lining of the airways, digestive system, reproductive system, and other organs and tissues and ... |
inheritance | Is medullary cystic kidney disease 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. |
treatment | What are the treatments for medullary cystic kidney disease type 1 ? | These resources address the diagnosis or management of medullary cystic kidney disease type 1: - MedlinePlus Encyclopedia: Medullary Cystic Kidney Disease - Merck Manual for Health Care Professionals: Nephronophthisis and Medullary Cystic Kidney Disease Complex These resources from MedlinePlus offer information abo... |
information | What is (are) Gilbert syndrome ? | Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergo... |
frequency | How many people are affected by Gilbert syndrome ? | Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans. |
genetic changes | What are the genetic changes related to Gilbert syndrome ? | Changes in the UGT1A1 gene cause Gilbert syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. The bilirubin-UGT enzyme performs a chemic... |
inheritance | Is Gilbert syndrome inherited ? | Gilbert syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1*28 change in the promoter region of the UGT1A1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have the mutation. The parents of an individual with an autosomal ... |
treatment | What are the treatments for Gilbert syndrome ? | These resources address the diagnosis or management of Gilbert syndrome: - Genetic Testing Registry: Gilbert's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Coun... |
information | What is (are) glycogen storage disease type IX ? | Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal funct... |
frequency | How many people are affected by glycogen storage disease type IX ? | GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. The forms of the disease that affect muscles or both muscles and liver are much less common, although the prevalence is unknown. |
genetic changes | What are the genetic changes related to glycogen storage disease type IX ? | Mutations in the PHKA1, PHKA2, PHKB, or PHKG2 genes are known to cause GSD IX. These genes provide instructions for making pieces (subunits) of an enzyme called phosphorylase b kinase. The enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. At least two different versions of phosp... |
inheritance | Is glycogen storage disease type IX inherited ? | GSD IX can have different inheritance patterns depending on the genetic cause of the condition. When caused by mutations in the PHKA1 or PHKA2 gene, GSD IX is inherited in an X-linked recessive pattern. These genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X ... |
treatment | What are the treatments for glycogen storage disease type IX ? | These resources address the diagnosis or management of glycogen storage disease type IX: - Gene Review: Gene Review: Phosphorylase Kinase Deficiency - Genetic Testing Registry: Glycogen storage disease IXb - Genetic Testing Registry: Glycogen storage disease IXc - Genetic Testing Registry: Glycogen storage disease ... |
information | What is (are) nonsyndromic holoprosencephaly ? | Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called no... |
frequency | How many people are affected by nonsyndromic holoprosencephaly ? | Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 newborns. |
genetic changes | What are the genetic changes related to nonsyndromic holoprosencephaly ? | Mutations in 11 genes have been found to cause nonsyndromic holoprosencephaly. These genes provide instructions for making proteins that are important for normal embryonic development, particularly for determining the shape of the brain and face. About 25 percent of people with nonsyndromic holoprosencephaly have a mut... |
inheritance | Is nonsyndromic holoprosencephaly inherited ? | Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy of a gene in each cell is usually sufficient to cause the disorder. However, not all people with a gene mutation will develop signs and symptoms of the condition. In some cases, an affected person inheri... |
treatment | What are the treatments for nonsyndromic holoprosencephaly ? | These resources address the diagnosis or management of nonsyndromic holoprosencephaly: - Gene Review: Gene Review: Holoprosencephaly Overview - Genetic Testing Registry: Holoprosencephaly 1 - Genetic Testing Registry: Holoprosencephaly 10 - Genetic Testing Registry: Holoprosencephaly 2 - Genetic Testing Registry: ... |
information | What is (are) succinic semialdehyde dehydrogenase deficiency ? | Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those aff... |
frequency | How many people are affected by succinic semialdehyde dehydrogenase deficiency ? | Approximately 350 people with succinic semialdehyde dehydrogenase deficiency have been reported worldwide. |
genetic changes | What are the genetic changes related to succinic semialdehyde dehydrogenase deficiency ? | Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyri... |
inheritance | Is succinic semialdehyde dehydrogenase 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 succinic semialdehyde dehydrogenase deficiency ? | These resources address the diagnosis or management of succinic semialdehyde dehydrogenase deficiency: - Gene Review: Gene Review: Succinic Semialdehyde Dehydrogenase Deficiency - Genetic Testing Registry: Succinate-semialdehyde dehydrogenase deficiency - MedlinePlus Encyclopedia: Hyperactivity These resources fro... |
information | What is (are) familial erythrocytosis ? | Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, noseb... |
frequency | How many people are affected by familial erythrocytosis ? | Familial erythrocytosis is a rare condition; its prevalence is unknown. |
genetic changes | What are the genetic changes related to familial erythrocytosis ? | Familial erythrocytosis can result from mutations in the EPOR, VHL, EGLN1, or EPAS1 gene. Researchers define four types of familial erythrocytosis, ECYT1 through ECYT4, based on which of these genes is altered. The EPOR gene provides instructions for making a protein known as the erythropoietin receptor, which is foun... |
inheritance | Is familial erythrocytosis inherited ? | Familial erythrocytosis can have different inheritance patterns depending on the gene involved. When the condition is caused by mutations in the EPOR, EGLN1, or EPAS1 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient ... |
treatment | What are the treatments for familial erythrocytosis ? | These resources address the diagnosis or management of familial erythrocytosis: - Genetic Testing Registry: Erythrocytosis, familial, 2 - Genetic Testing Registry: Erythrocytosis, familial, 3 - Genetic Testing Registry: Erythrocytosis, familial, 4 - Genetic Testing Registry: Familial erythrocytosis, 1 - MedlinePlu... |
information | What is (are) autosomal dominant congenital stationary night blindness ? | Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able... |
frequency | How many people are affected by autosomal dominant congenital stationary night blindness ? | Autosomal dominant congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown. |
genetic changes | What are the genetic changes related to autosomal dominant congenital stationary night blindness ? | Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. Rods transmit v... |
inheritance | Is autosomal dominant congenital stationary night blindness 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 autosomal dominant congenital stationary night blindness ? | These resources address the diagnosis or management of autosomal dominant congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... |
information | What is (are) Romano-Ward syndrome ? | Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to fainting (synco... |
frequency | How many people are affected by Romano-Ward syndrome ? | Romano-Ward syndrome is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. The disorder may actually be more common than this estimate, however, because some people never experience any symptoms associated with arrhythmia and therefore may not have been diagnosed. |
genetic changes | What are the genetic changes related to Romano-Ward syndrome ? | Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle, i... |
inheritance | Is Romano-Ward syndrome inherited ? | This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in one of the genes d... |
treatment | What are the treatments for Romano-Ward syndrome ? | These resources address the diagnosis or management of Romano-Ward syndrome: - Gene Review: Gene Review: Long QT Syndrome - Genetic Testing Registry: Long QT syndrome 1 - Genetic Testing Registry: Romano-Ward syndrome - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about... |
information | What is (are) Timothy syndrome ? | Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Th... |
frequency | How many people are affected by Timothy syndrome ? | Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears to be more common than the atypical type, which has been identified in only two individuals. |
genetic changes | What are the genetic changes related to Timothy syndrome ? | Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein that acts as a channel across cell membranes. This channel, known as CaV1.2, is one of several channels that transport positively charged calcium atoms (calcium ions) into cells... |
inheritance | Is Timothy syndrome inherited ? | This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered CACNA1C gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene, and occur in people with no history of the disorder in their family. Less commonly, peop... |
treatment | What are the treatments for Timothy syndrome ? | These resources address the diagnosis or management of Timothy syndrome: - Gene Review: Gene Review: Timothy Syndrome - Genetic Testing Registry: Timothy syndrome - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes ... |
information | What is (are) phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterize... |
frequency | How many people are affected by phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce en... |
inheritance | Is phosphoglycerate kinase deficiency inherited ? | This condition is inherited in an X-linked recessive pattern. The PGK1 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 sufficient to cause the condition. In females (who have two X chromosomes), a mutat... |
treatment | What are the treatments for phosphoglycerate kinase deficiency ? | These resources address the diagnosis or management of phosphoglycerate kinase deficiency: - Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency - Genetic Testing Registry: Deficiency of phosphoglycerate kinase - Genetic Testing Registry: Phosphoglycerate kinase 1 defic... |
information | What is (are) fumarase deficiency ? | Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failur... |
frequency | How many people are affected by fumarase deficiency ? | Fumarase deficiency is a very rare disorder. Approximately 100 affected individuals have been reported worldwide. Several were born in an isolated religious community in the southwestern United States. |
genetic changes | What are the genetic changes related to fumarase deficiency ? | The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called... |
inheritance | Is fumarase 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 fumarase deficiency ? | These resources address the diagnosis or management of fumarase deficiency: - Gene Review: Gene Review: Fumarate Hydratase Deficiency - Genetic Testing Registry: Fumarase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test... |
information | What is (are) 3-methylglutaconyl-CoA hydratase deficiency ? | 3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms a... |
frequency | How many people are affected by 3-methylglutaconyl-CoA hydratase deficiency ? | 3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 cases have been reported in the scientific literature. |
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