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What is (are) Shprintzen-Goldberg syndrome ? | Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities. A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain ... | Shprintzen-Goldberg syndrome |
How many people are affected by Shprintzen-Goldberg syndrome ? | Shprintzen-Goldberg syndrome is a rare condition, although its prevalence is unknown. It is difficult to identify the number of affected individuals, because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and symptoms. | Shprintzen-Goldberg syndrome |
What are the genetic changes related to Shprintzen-Goldberg syndrome ? | Shprintzen-Goldberg syndrome is often caused by mutations in the SKI gene. This gene provides instructions for making a protein that regulates the transforming growth factor beta (TGF-) signaling pathway. The TGF- pathway regulates many processes, including cell growth and division (proliferation), the process by which... | Shprintzen-Goldberg syndrome |
Is Shprintzen-Goldberg syndrome inherited ? | Shprintzen-Goldberg syndrome is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) gene mutations and occurs in people with no history of the disorder in their family. Very rarely, people with... | Shprintzen-Goldberg syndrome |
What are the treatments for Shprintzen-Goldberg syndrome ? | These resources address the diagnosis or management of Shprintzen-Goldberg syndrome: - Gene Review: Gene Review: Shprintzen-Goldberg Syndrome - Genetic Testing Registry: Shprintzen-Goldberg syndrome - Johns Hopkins Medicine: Diagnosis of Craniosynostosis - MedlinePlus Encyclopedia: Craniosynostosis These resource... | Shprintzen-Goldberg syndrome |
What is (are) arrhythmogenic right ventricular cardiomyopathy ? | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythm... | arrhythmogenic right ventricular cardiomyopathy |
How many people are affected by arrhythmogenic right ventricular cardiomyopathy ? | ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder may be underdiagnosed because it can be difficult to detect in people with mild or no symptoms. | arrhythmogenic right ventricular cardiomyopathy |
What are the genetic changes related to arrhythmogenic right ventricular cardiomyopathy ? | ARVC can result from mutations in at least eight genes. Many of these genes are involved in the function of desmosomes, which are structures that attach heart muscle cells to one another. Desmosomes provide strength to the myocardium and play a role in signaling between neighboring cells. Mutations in the genes respon... | arrhythmogenic right ventricular cardiomyopathy |
Is arrhythmogenic right ventricular cardiomyopathy inherited ? | Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both cop... | arrhythmogenic right ventricular cardiomyopathy |
What are the treatments for arrhythmogenic right ventricular cardiomyopathy ? | These resources address the diagnosis or management of ARVC: - Brigham and Women's Hospital - Cleveland Clinic: How Are Arrhythmias Treated? - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy - Genetic Te... | arrhythmogenic right ventricular cardiomyopathy |
What is (are) malignant hyperthermia ? | Malignant hyperthermia is a severe reaction to particular drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a muscle relaxant that is used to temporarily paralyze a pers... | malignant hyperthermia |
How many people are affected by malignant hyperthermia ? | Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which people are given anesthetic gases. Susceptibility to malignant hyperthermia is probably more frequent, because many people with an increased risk of this condition are never exposed to drugs that trigger a reaction. | malignant hyperthermia |
What are the genetic changes related to malignant hyperthermia ? | Variations of the CACNA1S and RYR1 genes increase the risk of developing malignant hyperthermia. Researchers have described at least six forms of malignant hyperthermia susceptibility, which are caused by mutations in different genes. Mutations in the RYR1 gene are responsible for a form of the condition known as MHS1... | malignant hyperthermia |
Is malignant hyperthermia inherited ? | Malignant hyperthermia susceptibility is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of a severe reaction to certain drugs used during surgery. In most cases, an affected person inherits the altered gene from a parent who is also a... | malignant hyperthermia |
What are the treatments for malignant hyperthermia ? | These resources address the diagnosis or management of malignant hyperthermia: - Gene Review: Gene Review: Malignant Hyperthermia Susceptibility - Genetic Testing Registry: Malignant hyperthermia susceptibility type 1 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 2 - Genetic Testing Registr... | malignant hyperthermia |
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... | cryptogenic cirrhosis |
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. | cryptogenic cirrhosis |
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... | cryptogenic cirrhosis |
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... | cryptogenic cirrhosis |
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... | cryptogenic cirrhosis |
What is (are) Glanzmann thrombasthenia ? | Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by b... | Glanzmann thrombasthenia |
How many people are affected by Glanzmann thrombasthenia ? | Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community. | Glanzmann thrombasthenia |
What are the genetic changes related to Glanzmann thrombasthenia ? | Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are... | Glanzmann thrombasthenia |
Is Glanzmann thrombasthenia 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. | Glanzmann thrombasthenia |
What are the treatments for Glanzmann thrombasthenia ? | These resources address the diagnosis or management of Glanzmann thrombasthenia: - CLIMB Glanzmann Thrombasthenia Info Sheet - Canadian Hemophilia Society: Glanzmann Thrombasthenia Information Booklet - Genetic Testing Registry: Glanzmann's thrombasthenia - MedlinePlus Encyclopedia: Glanzmann's Disease These reso... | Glanzmann thrombasthenia |
What is (are) galactosialidosis ? | Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. The early infantile form of galactosialidosis is associated with extensive swelling caused by fluid accumulation before birth (h... | galactosialidosis |
How many people are affected by galactosialidosis ? | The prevalence of galactosialidosis is unknown; more than 100 cases have been reported. Approximately 60 percent of people with galactosialidosis have the juvenile/adult form. Most people with this type of the condition are of Japanese descent. | galactosialidosis |
What are the genetic changes related to galactosialidosis ? | Mutations in the CTSA gene cause all forms of galactosialidosis. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works ... | galactosialidosis |
Is galactosialidosis 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. | galactosialidosis |
What are the treatments for galactosialidosis ? | These resources address the diagnosis or management of galactosialidosis: - Genetic Testing Registry: Combined deficiency of sialidase AND beta galactosidase - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Hydrops fetalis These resources from MedlinePlus offer information about t... | galactosialidosis |
What is (are) glycogen storage disease type VII ? | Glycogen storage disease type VII (GSDVII) 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. There are four types of GSDVII. They are differentiated by their signs and symptoms and th... | glycogen storage disease type VII |
How many people are affected by glycogen storage disease type VII ? | GSDVII is thought to be a rare condition; more than 100 cases have been described in the scientific literature. | glycogen storage disease type VII |
What are the genetic changes related to glycogen storage disease type VII ? | Mutations in the PFKM gene cause GSDVII. This gene provides instructions for making one piece (the PFKM subunit) of an enzyme called phosphofructokinase, which plays a role in the breakdown of glycogen. The phosphofructokinase enzyme is made up of four subunits and is found in a variety of tissues. Different combinatio... | glycogen storage disease type VII |
Is glycogen storage disease type VII 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. | glycogen storage disease type VII |
What are the treatments for glycogen storage disease type VII ? | These resources address the diagnosis or management of glycogen storage disease type VII: - Genetic Testing Registry: Glycogen storage disease, type VII - The Swedish Information Centre for Rare Diseases These resources from MedlinePlus offer information about the diagnosis and management of various health conditio... | glycogen storage disease type VII |
What is (are) tyrosine hydroxylase deficiency ? | Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe. The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). Symptoms usually appear during childhood. Affected individuals may exhibit unusual limb positioning... | tyrosine hydroxylase deficiency |
How many people are affected by tyrosine hydroxylase deficiency ? | The prevalence of TH deficiency is unknown. | tyrosine hydroxylase deficiency |
What are the genetic changes related to tyrosine hydroxylase deficiency ? | Mutations in the TH gene cause TH deficiency. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. Tyrosine hydroxylase takes part in the pathway that produces a group of chemical messengers (hormones) called catecholamines. Tyros... | tyrosine hydroxylase deficiency |
Is tyrosine hydroxylase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | tyrosine hydroxylase deficiency |
What are the treatments for tyrosine hydroxylase deficiency ? | These resources address the diagnosis or management of TH deficiency: - Gene Review: Gene Review: Tyrosine Hydroxylase Deficiency - Genetic Testing Registry: Segawa syndrome, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di... | tyrosine hydroxylase deficiency |
What is (are) familial lipoprotein lipase deficiency ? | Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. ... | familial lipoprotein lipase deficiency |
How many people are affected by familial lipoprotein lipase deficiency ? | This condition affects about 1 per million people worldwide. It is much more common in certain areas of the province of Quebec, Canada. | familial lipoprotein lipase deficiency |
What are the genetic changes related to familial lipoprotein lipase deficiency ? | Mutations in the LPL gene cause familial lipoprotein lipase deficiency. The LPL gene provides instructions for producing an enzyme called lipoprotein lipase, which is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and fatty (adipose) tissue. This enzyme helps break dow... | familial lipoprotein lipase deficiency |
Is familial lipoprotein lipase 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. Researchers spe... | familial lipoprotein lipase deficiency |
What are the treatments for familial lipoprotein lipase deficiency ? | These resources address the diagnosis or management of familial lipoprotein lipase deficiency: - Gene Review: Gene Review: Familial Lipoprotein Lipase Deficiency - Genetic Testing Registry: Hyperlipoproteinemia, type I - MedlinePlus Encyclopedia: Chylomicronemia Syndrome - MedlinePlus Encyclopedia: Familial Lipopro... | familial lipoprotein lipase deficiency |
What is (are) Unverricht-Lundborg disease ? | Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involunta... | Unverricht-Lundborg disease |
How many people are affected by Unverricht-Lundborg disease ? | Progressive myoclonus epilepsy is a rare condition. Unverricht-Lundborg disease is believed to be the most common cause of this type of epilepsy, but its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most frequently in Finland, where approximately 4 in 100,000 people are affected. | Unverricht-Lundborg disease |
What are the genetic changes related to Unverricht-Lundborg disease ? | Mutations in the CSTB gene cause Unverricht-Lundborg disease. The CSTB gene provides instructions for making a protein called cystatin B. This protein reduces the activity of enzymes called cathepsins. Cathepsins help break down certain proteins in the lysosomes (compartments in the cell that digest and recycle materia... | Unverricht-Lundborg disease |
Is Unverricht-Lundborg 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. | Unverricht-Lundborg disease |
What are the treatments for Unverricht-Lundborg disease ? | These resources address the diagnosis or management of Unverricht-Lundborg disease: - Gene Review: Gene Review: Unverricht-Lundborg Disease - Genetic Testing Registry: Unverricht-Lundborg syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ... | Unverricht-Lundborg disease |
What is (are) abdominal wall defect ? | An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele a... | abdominal wall defect |
How many people are affected by abdominal wall defect ? | Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to 2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by gastroschisis, although researchers have observed that this malformation is becoming more common. Abdominal wall defects are more common among pregnancies that do no... | abdominal wall defect |
What are the genetic changes related to abdominal wall defect ? | No genetic mutations are known to cause an abdominal wall defect. Multiple genetic and environmental factors likely influence the development of this disorder. Omphalocele and gastroschisis are caused by different errors in fetal development. Omphalocele occurs during an error in digestive tract development. During th... | abdominal wall defect |
Is abdominal wall defect inherited ? | Most cases of abdominal wall defect are sporadic, which means they occur in people with no history of the disorder in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. When an abdominal wall defect, most often omphalocele, is a feature of a... | abdominal wall defect |
What are the treatments for abdominal wall defect ? | These resources address the diagnosis or management of abdominal wall defect: - Cincinnati Children's Hospital: Gastroschisis - Cincinnati Children's Hospital: Omphalocele - Cleveland Clinic: Omphalocele - Genetic Testing Registry: Congenital omphalocele - Great Ormond Street Hospital for Children (UK): Gastroschi... | abdominal wall defect |
What is (are) sialuria ? | Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). They may develop a somewhat fla... | sialuria |
How many people are affected by sialuria ? | Fewer than 10 people worldwide have been diagnosed with sialuria. There are probably more people with the disorder who have not been diagnosed, as sialuria can be difficult to detect because of its variable features. | sialuria |
What are the genetic changes related to sialuria ? | Mutations in the GNE gene cause sialuria. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. ... | sialuria |
Is sialuria 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 reported cases have occurred in people with no known history of the disorder in their family and may result from new mutations in the gene. | sialuria |
What are the treatments for sialuria ? | These resources address the diagnosis or management of sialuria: - Gene Review: Gene Review: Sialuria - Genetic Testing Registry: Sialuria - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Newborn Jaundice These resources from MedlinePlus offer information about the diagnosis and ... | sialuria |
What is (are) genitopatellar syndrome ? | Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body. The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underdev... | genitopatellar syndrome |
How many people are affected by genitopatellar syndrome ? | Genitopatellar syndrome is estimated to occur in fewer than 1 per million people. At least 18 cases have been reported in the medical literature. | genitopatellar syndrome |
What are the genetic changes related to genitopatellar syndrome ? | Genitopatellar 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 called an ... | genitopatellar syndrome |
Is genitopatellar syndrome 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. 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. | genitopatellar syndrome |
What are the treatments for genitopatellar syndrome ? | These resources address the diagnosis or management of genitopatellar syndrome: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Genitopatellar syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te... | genitopatellar syndrome |
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... | amelogenesis imperfecta |
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. | amelogenesis imperfecta |
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... | amelogenesis imperfecta |
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... | amelogenesis imperfecta |
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... | amelogenesis imperfecta |
What is (are) progressive supranuclear palsy ? | Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after ... | progressive supranuclear palsy |
How many people are affected by progressive supranuclear palsy ? | The exact prevalence of progressive supranuclear palsy is unknown. It may affect about 6 in 100,000 people worldwide. | progressive supranuclear palsy |
What are the genetic changes related to progressive supranuclear palsy ? | In most cases, the genetic cause of progressive supranuclear palsy is unknown. Rarely, the disease results from mutations in the MAPT gene. Certain normal variations (polymorphisms) in the MAPT gene have also been associated with an increased risk of developing progressive supranuclear palsy. The MAPT gene provides in... | progressive supranuclear palsy |
Is progressive supranuclear palsy inherited ? | Most cases of progressive supranuclear palsy are sporadic, which means they occur in people with no history of the disorder in their family. However, some people with this disorder have had family members with related conditions, such as parkinsonism and a loss of intellectual functions (dementia). When progressive su... | progressive supranuclear palsy |
What are the treatments for progressive supranuclear palsy ? | These resources address the diagnosis or management of progressive supranuclear palsy: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Progressive supranuclear ophthalmoplegia - NHS Choices (UK): Diagnosis of Progressive Supranuclear Palsy - NHS Choices (UK): Treatment of Progressive ... | progressive supranuclear palsy |
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... | ichthyosis with confetti |
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. | ichthyosis with confetti |
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... | ichthyosis with confetti |
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... | ichthyosis with confetti |
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... | ichthyosis with confetti |
What is (are) Emery-Dreifuss muscular dystrophy ? | Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early ch... | Emery-Dreifuss muscular dystrophy |
How many people are affected by Emery-Dreifuss muscular dystrophy ? | X-linked Emery-Dreifuss muscular dystrophy is the most common form of this condition, affecting an estimated 1 in 100,000 people. The autosomal recessive type of this disorder appears to be very rare; only a few cases have been reported worldwide. The incidence of the autosomal dominant form is unknown. | Emery-Dreifuss muscular dystrophy |
What are the genetic changes related to Emery-Dreifuss muscular dystrophy ? | Mutations in the EMD and LMNA genes cause Emery-Dreifuss muscular dystrophy. The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and resea... | Emery-Dreifuss muscular dystrophy |
Is Emery-Dreifuss muscular dystrophy inherited ? | Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. When this condition is caused by mutations in the EMD gene, it is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the t... | Emery-Dreifuss muscular dystrophy |
What are the treatments for Emery-Dreifuss muscular dystrophy ? | These resources address the diagnosis or management of Emery-Dreifuss muscular dystrophy: - Gene Review: Gene Review: Emery-Dreifuss Muscular Dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy 1, X-linked - MedlinePlus Encyclopedia: ... | Emery-Dreifuss muscular dystrophy |
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 ... | preeclampsia |
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. | preeclampsia |
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... | preeclampsia |
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. | preeclampsia |
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: ... | preeclampsia |
What is (are) phosphoglycerate mutase deficiency ? | Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myo... | phosphoglycerate mutase deficiency |
How many people are affected by phosphoglycerate mutase deficiency ? | Phosphoglycerate mutase deficiency is a rare condition; about 15 affected people have been reported in the medical literature. Most affected individuals have been African American. | phosphoglycerate mutase deficiency |
What are the genetic changes related to phosphoglycerate mutase deficiency ? | Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, 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 e... | phosphoglycerate mutase deficiency |
Is phosphoglycerate mutase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the PGAM2 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. However, p... | phosphoglycerate mutase deficiency |
What are the treatments for phosphoglycerate mutase deficiency ? | These resources address the diagnosis or management of phosphoglycerate mutase deficiency: - Genetic Testing Registry: Glycogen storage disease type X These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and... | phosphoglycerate mutase deficiency |
What is (are) hypomyelination and congenital cataract ? | Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fa... | hypomyelination and congenital cataract |
How many people are affected by hypomyelination and congenital cataract ? | The prevalence of hypomyelination and congenital cataract is unknown. | hypomyelination and congenital cataract |
What are the genetic changes related to hypomyelination and congenital cataract ? | Mutations in the FAM126A gene cause hypomyelination and congenital cataract. The FAM126A gene provides instructions for making a protein called hyccin, the function of which is not completely understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the... | hypomyelination and congenital cataract |
Is hypomyelination and congenital cataract 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. | hypomyelination and congenital cataract |
What are the treatments for hypomyelination and congenital cataract ? | These resources address the diagnosis or management of hypomyelination and congenital cataract: - Gene Review: Gene Review: Hypomyelination and Congenital Cataract - Genetic Testing Registry: Hypomyelination and Congenital Cataract - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Muscle A... | hypomyelination and congenital cataract |
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