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genetic changes | What are the genetic changes related to Weill-Marchesani syndrome ? | Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 gene provides instructions for making a protein whose function is unknown. This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. Mut... |
inheritance | Is Weill-Marchesani syndrome inherited ? | Weill-Marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern. When Weill-Marchesani syndrome is caused by mutations in the ADAMTS10 gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have... |
treatment | What are the treatments for Weill-Marchesani syndrome ? | These resources address the diagnosis or management of Weill-Marchesani syndrome: - Gene Review: Gene Review: Weill-Marchesani Syndrome - Genetic Testing Registry: Weill-Marchesani syndrome - Genetic Testing Registry: Weill-Marchesani syndrome 1 - Genetic Testing Registry: Weill-Marchesani syndrome 2 - Genetic Tes... |
information | What is (are) hypochondroplasia ? | Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder. A... |
frequency | How many people are affected by hypochondroplasia ? | The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia. |
genetic changes | What are the genetic changes related to hypochondroplasia ? | About 70 percent of all cases of hypochondroplasia are caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, rese... |
inheritance | Is hypochondroplasia inherited ? | Hypochondroplasia 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 people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with hypochon... |
treatment | What are the treatments for hypochondroplasia ? | These resources address the diagnosis or management of hypochondroplasia: - Gene Review: Gene Review: Hypochondroplasia - Genetic Testing Registry: Hypochondroplasia - MedlinePlus Encyclopedia: Lordosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditio... |
information | What is (are) Noonan syndrome ? | Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. People with Noonan syndrome have distinctive facial features such as a deep groov... |
frequency | How many people are affected by Noonan syndrome ? | Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people. |
genetic changes | What are the genetic changes related to Noonan syndrome ? | Mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes cause Noonan syndrome. Most cases of Noonan syndrome result from mutations in one of three genes, PTPN11, SOS1, or RAF1. PTPN11 gene mutations account for approximately 50 percent of all cases of Noonan syndrome. SOS1 gene mutations account for 10 to 15 pe... |
inheritance | Is Noonan syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Noonan syndrome ? | These resources address the diagnosis or management of Noonan syndrome: - Gene Review: Gene Review: Noonan Syndrome - Genetic Testing Registry: Noonan syndrome - Genetic Testing Registry: Noonan syndrome 1 - Genetic Testing Registry: Noonan syndrome 2 - Genetic Testing Registry: Noonan syndrome 3 - Genetic Testin... |
information | What is (are) cleidocranial dysplasia ? | Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones (clavicles). As a resu... |
frequency | How many people are affected by cleidocranial dysplasia ? | Cleidocranial dysplasia occurs in approximately 1 per million individuals worldwide. |
genetic changes | What are the genetic changes related to cleidocranial dysplasia ? | The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the RUNX2 protein ... |
inheritance | Is cleidocranial dysplasia 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 some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people wi... |
treatment | What are the treatments for cleidocranial dysplasia ? | These resources address the diagnosis or management of cleidocranial dysplasia: - Gene Review: Gene Review: Cleidocranial Dysplasia - Genetic Testing Registry: Cleidocranial dysostosis - MedlinePlus Encyclopedia: Cleidocranial dysostosis These resources from MedlinePlus offer information about the diagnosis and ma... |
information | What is (are) fragile X-associated primary ovarian insufficiency ? | Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, ea... |
frequency | How many people are affected by fragile X-associated primary ovarian insufficiency ? | An estimated 1 in 200 females has the genetic change that leads to FXPOI, although only about a quarter of them develop the condition. FXPOI accounts for about 4 to 6 percent of all cases of primary ovarian insufficiency in women. |
genetic changes | What are the genetic changes related to fragile X-associated primary ovarian insufficiency ? | Mutations in the FMR1 gene increase a woman's risk of developing FXPOI. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. This protein plays a role in the functioning of nerve cells. It is also important for normal ovarian function, although the... |
inheritance | Is fragile X-associated primary ovarian insufficiency inherited ? | An increased risk of developing FXPOI is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, which is one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevat... |
treatment | What are the treatments for fragile X-associated primary ovarian insufficiency ? | These resources address the diagnosis or management of FXPOI: - Gene Review: Gene Review: FMR1-Related Disorders - Genetic Testing Registry: Premature ovarian failure 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... |
information | What is (are) critical congenital heart disease ? | Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effec... |
frequency | How many people are affected by critical congenital heart disease ? | Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year. |
genetic changes | What are the genetic changes related to critical congenital heart disease ? | In most cases, the cause of CCHD is unknown. A variety of genetic and environmental factors likely contribute to this complex condition. Changes in single genes have been associated with CCHD. Studies suggest that these genes are involved in normal heart development before birth. Most of the identified mutations reduc... |
inheritance | Is critical congenital heart disease inherited ? | Most cases of CCHD are sporadic, which means they occur in people with no history of the disorder in their family. However, close relatives (such as siblings) of people with CCHD may have an increased risk of being born with a heart defect compared with people in the general population. |
treatment | What are the treatments for critical congenital heart disease ? | These resources address the diagnosis or management of critical congenital heart disease: - Baby's First Test: Critical Congenital Heart Disease - Boston Children's Hospital - Centers for Disease Control and Prevention: Screening for Critical Congenital Heart Defects - Children's Hospital of Philadelphia - Cincinn... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) mucopolysaccharidosis type VII ? | Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals. The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in ... |
frequency | How many people are affected by mucopolysaccharidosis type VII ? | The exact incidence of MPS VII is unknown, although it is estimated to occur in 1 in 250,000 newborns. It is one of the rarest types of mucopolysaccharidosis. |
genetic changes | What are the genetic changes related to mucopolysaccharidosis type VII ? | Mutations in the GUSB gene cause MPS VII. This gene provides instructions for producing the beta-glucuronidase (-glucuronidase) enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its na... |
inheritance | Is mucopolysaccharidosis 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. |
treatment | What are the treatments for mucopolysaccharidosis type VII ? | These resources address the diagnosis or management of mucopolysaccharidosis type VII: - Genetic Testing Registry: Mucopolysaccharidosis type VII - National MPS Society: A Guide to Understanding MPS VII These resources from MedlinePlus offer information about the diagnosis and management of various health condition... |
information | What is (are) task-specific focal dystonia ? | Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolle... |
frequency | How many people are affected by task-specific focal dystonia ? | Task-specific focal dystonia affects an estimated 7 to 69 per million people in the general population. Musician's dystonia that is severe enough to impact performance occurs in about 1 percent of musicians. |
genetic changes | What are the genetic changes related to task-specific focal dystonia ? | The causes of task-specific focal dystonia are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the onset of symptoms in people who are at ri... |
inheritance | Is task-specific focal dystonia inherited ? | Most cases of task-specific focal dystonia are sporadic, which means they occur in people with no history of the condition in their family. However, at least 10 percent of affected individuals have a family history of focal dystonia. (For example, writer's cramp and musician's dystonia have been reported to occur in th... |
treatment | What are the treatments for task-specific focal dystonia ? | These resources address the diagnosis or management of task-specific focal dystonia: - Dystonia Medical Research Foundation: How Is Dystonia Diagnosed? - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Focal dystonia - Merck Manual Home Hea... |
information | What is (are) carnitine palmitoyltransferase I deficiency ? | Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals. Signs and symptoms of CPT I deficiency often appear during early childhood.... |
frequency | How many people are affected by carnitine palmitoyltransferase I deficiency ? | CPT I deficiency is a rare disorder; fewer than 50 affected individuals have been identified. This disorder may be more common in the Hutterite and Inuit populations. |
genetic changes | What are the genetic changes related to carnitine palmitoyltransferase I deficiency ? | Mutations in the CPT1A gene cause CPT I deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver. Carnitine palmitoyltransferase 1A is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and ... |
inheritance | Is carnitine palmitoyltransferase I 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 carnitine palmitoyltransferase I deficiency ? | These resources address the diagnosis or management of CPT I deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase 1A Deficiency - Genetic Testi... |
information | What is (are) protein C deficiency ? | Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from th... |
frequency | How many people are affected by protein C deficiency ? | Mild protein C deficiency affects approximately 1 in 500 individuals. Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million newborns. |
genetic changes | What are the genetic changes related to protein C deficiency ? | Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting. Most of the mutations that ... |
inheritance | Is protein C deficiency inherited ? | Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency. |
treatment | What are the treatments for protein C deficiency ? | These resources address the diagnosis or management of protein C deficiency: - Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protei... |
information | What is (are) X-linked chondrodysplasia punctata 1 ? | X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this s... |
frequency | How many people are affected by X-linked chondrodysplasia punctata 1 ? | The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to X-linked chondrodysplasia punctata 1 ? | X-linked chondrodysplasia punctata 1 is caused by genetic changes involving the ARSE gene. This gene provides instructions for making an enzyme called arylsulfatase E. The function of this enzyme is unknown, although it appears to be important for normal skeletal development and is thought to participate in a chemical ... |
inheritance | Is X-linked chondrodysplasia punctata 1 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 ARSE gene in each cell is sufficient to cause the condition. In females (who h... |
treatment | What are the treatments for X-linked chondrodysplasia punctata 1 ? | These resources address the diagnosis or management of X-linked chondrodysplasia punctata 1: - Gene Review: Gene Review: Chondrodysplasia Punctata 1, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 1, X-linked recessive These resources from MedlinePlus offer information about the diagnosis and manage... |
information | What is (are) warfarin resistance ? | Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart v... |
frequency | How many people are affected by warfarin resistance ? | Warfarin resistance is thought to be a rare condition, although its prevalence is unknown. |
genetic changes | What are the genetic changes related to warfarin resistance ? | Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the VKORC1 gene account for 20 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, ... |
inheritance | Is warfarin resistance inherited ? | The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more t... |
treatment | What are the treatments for warfarin resistance ? | These resources address the diagnosis or management of warfarin resistance: - American Society of Hematology: Antithrombotic Therapy - MedlinePlus Drugs & Supplements: Warfarin - PharmGKB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnost... |
information | What is (are) Feingold syndrome ? | Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. Almost all people with this condition hav... |
frequency | How many people are affected by Feingold syndrome ? | Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown. |
genetic changes | What are the genetic changes related to Feingold syndrome ? | Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervou... |
inheritance | Is Feingold syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Feingold syndrome ? | These resources address the diagnosis or management of Feingold syndrome: - Gene Review: Gene Review: Feingold Syndrome 1 - Genetic Testing Registry: Feingold syndrome 1 - Genetic Testing Registry: Feingold syndrome 2 - MedlinePlus Encyclopedia: Duodenal Atresia - MedlinePlus Encyclopedia: Esophageal Atresia - Me... |
information | What is (are) hypercholesterolemia ? | Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to bui... |
frequency | How many people are affected by hypercholesterolemia ? | More than 34 million American adults have elevated blood cholesterol levels (higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause even higher levels of cholesterol, occur less frequently. The most common inherited form of high cholesterol is called familial hypercholesterolemia. This condition a... |
genetic changes | What are the genetic changes related to hypercholesterolemia ? | Mutations in the APOB, LDLR, LDLRAP1, and PCSK9 genes cause hypercholesterolemia. High blood cholesterol levels typically result from a combination of genetic and environmental risk factors. Lifestyle choices including diet, exercise, and tobacco smoking strongly influence the amount of cholesterol in the blood. Addit... |
inheritance | Is hypercholesterolemia inherited ? | Most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inherita... |
treatment | What are the treatments for hypercholesterolemia ? | These resources address the diagnosis or management of hypercholesterolemia: - Gene Review: Gene Review: Familial Hypercholesterolemia - GeneFacts: Familial Hypercholesterolemia: Diagnosis - GeneFacts: Familial Hypercholesterolemia: Management - Genetic Testing Registry: Familial hypercholesterolemia - Genetic Tes... |
information | What is (are) mucopolysaccharidosis type III ? | Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder d... |
frequency | How many people are affected by mucopolysaccharidosis type III ? | MPS III is the most common type of mucopolysaccharidosis; the estimated incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS IIIB are much more common than MPS IIIC and MPS IIID. |
genetic changes | What are the genetic changes related to mucopolysaccharidosis type III ? | Mutations in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. The GNS, HGSNAT, NAGLU... |
inheritance | Is mucopolysaccharidosis type III 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 mucopolysaccharidosis type III ? | These resources address the diagnosis or management of mucopolysaccharidosis type III: - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-B - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-C - Genetic Testing Registry: Mucopolysaccharido... |
information | What is (are) GLUT1 deficiency syndrome ? | GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epileps... |
frequency | How many people are affected by GLUT1 deficiency syndrome ? | GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many ne... |
genetic changes | What are the genetic changes related to GLUT1 deficiency syndrome ? | GLUT1 deficiency syndrome is caused by mutations in the SLC2A1 gene. This gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). The GLUT1 protein is embedded in the outer membrane surrounding cells, where it transports a simple sugar called glucose into cells from the... |
inheritance | Is GLUT1 deficiency syndrome 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. About 90 percent of cases of GLUT1 deficiency syndrome result from new mutations in the gene. These cases occur in people with no history of the disorder in th... |
treatment | What are the treatments for GLUT1 deficiency syndrome ? | These resources address the diagnosis or management of GLUT1 deficiency syndrome: - G1D Registry - Gene Review: Gene Review: Glucose Transporter Type 1 Deficiency Syndrome - Genetic Testing Registry: Glucose transporter type 1 deficiency syndrome - The Glucose Transporter Type 1 Deficiency Syndrome Research Consort... |
information | What is (are) Opitz G/BBB syndrome ? | Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two form... |
frequency | How many people are affected by Opitz G/BBB syndrome ? | X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 males, although it is likely that this condition is underdiagnosed. The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is part of a larger condition known as 22q11.2 deletion syndrome, which is estimated to affect 1 in 4,000 ... |
genetic changes | What are the genetic changes related to Opitz G/BBB syndrome ? | X-linked Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a protein called midline-1. This protein attaches (binds) to microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintai... |
inheritance | Is Opitz G/BBB syndrome inherited ? | When caused by mutations in the MID1 gene, Opitz G/BBB syndrome has an X-linked pattern of inheritance. It is considered X-linked because the MID1 gene is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each c... |
treatment | What are the treatments for Opitz G/BBB syndrome ? | These resources address the diagnosis or management of Opitz G/BBB syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Gene Review: Gene Review: X-Linked Opitz G/BBB Syndrome - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Registry: Opitz-Frias syndrome - MedlinePlus Encyclopedia: ... |
information | What is (are) Stickler syndrome ? | Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This app... |
frequency | How many people are affected by Stickler syndrome ? | Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition. |
genetic changes | What are the genetic changes related to Stickler syndrome ? | Mutations in several genes cause the different types of Stickler syndrome. Between 80 and 90 percent of all cases are classified as type I and are caused by mutations in the COL2A1 gene. Another 10 to 20 percent of cases are classified as type II and result from mutations in the COL11A1 gene. Marshall syndrome, which m... |
inheritance | Is Stickler syndrome inherited ? | Stickler syndrome types I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations. These cases occur ... |
treatment | What are the treatments for Stickler syndrome ? | These resources address the diagnosis or management of Stickler syndrome: - Gene Review: Gene Review: Stickler Syndrome - Genetic Testing Registry: Marshall syndrome - Genetic Testing Registry: Stickler syndrome - MedlinePlus Encyclopedia: Pierre Robin Syndrome - Merck Manual Consumer Version: Detachment of the Re... |
information | What is (are) mucolipidosis III alpha/beta ? | Mucolipidosis III alpha/beta is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to ... |
frequency | How many people are affected by mucolipidosis III alpha/beta ? | Mucolipidosis III alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide. |
genetic changes | What are the genetic changes related to mucolipidosis III alpha/beta ? | Mutations in the GNPTAB gene cause mucolipidosis III alpha/beta. This gene provides instructions for making a part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enz... |
inheritance | Is mucolipidosis III alpha/beta 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 mucolipidosis III alpha/beta ? | These resources address the diagnosis or management of mucolipidosis III alpha/beta: - Gene Review: Gene Review: Mucolipidosis III Alpha/Beta - Genetic Testing Registry: Pseudo-Hurler polydystrophy - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: Heart Valves These resources from MedlinePlus ... |
information | What is (are) Hashimoto thyroiditis ? | Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menst... |
frequency | How many people are affected by Hashimoto thyroiditis ? | Hashimoto thyroiditis affects 1 to 2 percent of people in the United States. It occurs more often in women than in men, which may be related to hormonal factors. The condition is the most common cause of thyroid underactivity (hypothyroidism) in the United States. |
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