qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
|---|---|---|
genetic changes | What are the genetic changes related to familial idiopathic basal ganglia calcification ? | Mutations in the SLC20A2 gene cause nearly half of all cases of FIBGC. A small percentage of cases are caused by mutations in the PDGFRB gene. Other cases of FIBGC appear to be associated with changes in chromosomes 2, 7, 9, and 14, although specific genes have yet to be identified. These findings suggest that multiple... |
inheritance | Is familial idiopathic basal ganglia calcification inherited ? | FIBGC is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of an altered SLC20A2 or PDGFRB gene in each cell is sufficient to cause the disorder. This condition appears to follow an autosomal dominant pattern of inheritance when the genetic cause is not known. In most cases, an a... |
treatment | What are the treatments for familial idiopathic basal ganglia calcification ? | These resources address the diagnosis or management of FIBGC: - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Primary Familial Brain Calcification - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 2 - Genetic Testing Registry: Basal ganglia calcification, idiopathic... |
information | What is (are) familial atrial fibrillation ? | Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. If untreated, this abnormal heart rhythm can lead to di... |
frequency | How many people are affected by familial atrial fibrillation ? | Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies sug... |
genetic changes | What are the genetic changes related to familial atrial fibrillation ? | A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cell... |
inheritance | Is familial atrial fibrillation inherited ? | Familial atrial fibrillation appears to be 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 familial atrial fibrillation ? | These resources address the diagnosis or management of familial atrial fibrillation: - Genetic Testing Registry: Atrial fibrillation, familial, 1 - Genetic Testing Registry: Atrial fibrillation, familial, 2 - Genetic Testing Registry: Atrial fibrillation, familial, 3 - MedlinePlus Encyclopedia: Arrhythmias - Medli... |
information | What is (are) isolated growth hormone deficiency ? | Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experi... |
frequency | How many people are affected by isolated growth hormone deficiency ? | The incidence of isolated growth hormone deficiency is estimated to be 1 in 4,000 to 10,000 individuals worldwide. |
genetic changes | What are the genetic changes related to isolated growth hormone deficiency ? | Isolated growth hormone deficiency is caused by mutations in one of at least three genes. Isolated growth hormone deficiency types IA and II are caused by mutations in the GH1 gene. Type IB is caused by mutations in either the GH1 or GHRHR gene. Type III is caused by mutations in the BTK gene. The GH1 gene provides in... |
inheritance | Is isolated growth hormone deficiency inherited ? | Isolated growth hormone deficiency can have different inheritance patterns depending on the type of the condition. Isolated growth hormone deficiency types IA and IB are inherited in an autosomal recessive pattern, which means both copies of the GH1 or GHRHR gene in each cell have mutations. The parents of an individu... |
treatment | What are the treatments for isolated growth hormone deficiency ? | These resources address the diagnosis or management of isolated growth hormone deficiency: - Genetic Testing Registry: Ateleiotic dwarfism - Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency - Genetic Testing Registry: Isolated growth hormone deficiency type 1B - Genetic Testing Registry... |
information | What is (are) Alstrm syndrome ? | Alstrm syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alstrm syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens t... |
frequency | How many people are affected by Alstrm syndrome ? | More than 900 people with Alstrm syndrome have been reported worldwide. |
genetic changes | What are the genetic changes related to Alstrm syndrome ? | Mutations in the ALMS1 gene cause Alstrm syndrome. The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissue... |
inheritance | Is Alstrm 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 Alstrm syndrome ? | These resources address the diagnosis or management of Alstrm syndrome: - Gene Review: Gene Review: Alstrom Syndrome - Genetic Testing Registry: Alstrom syndrome - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Alstrm syndrome These resources from MedlinePlus offer information about th... |
information | What is (are) Meige disease ? | Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnorma... |
frequency | How many people are affected by Meige disease ? | The prevalence of Meige disease is unknown. Collectively, the many types of primary lymphedema affect an estimated 1 in 100,000 people younger than 20; Meige disease is the most common type of primary lymphedema. For unknown reasons, this condition affects females about three times as often as males. |
genetic changes | What are the genetic changes related to Meige disease ? | The cause of Meige disease is unknown. The condition is thought to be genetic because it tends to run in families, and other forms of primary lymphedema have been found to have a genetic cause. Researchers have studied many genes associated with the lymphatic system; however, no genetic change has been definitively fou... |
inheritance | Is Meige disease inherited ? | Meige disease appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Meige disease. People with Meige disease usually have at least one other affected fa... |
treatment | What are the treatments for Meige disease ? | These resources address the diagnosis or management of Meige disease: - Genetic Testing Registry: Lymphedema praecox - Johns Hopkins Medicine: Lymphedema Management These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy... |
information | What is (are) hand-foot-genital syndrome ? | Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardeni... |
frequency | How many people are affected by hand-foot-genital syndrome ? | Hand-foot-genital syndrome is very rare; only a few families with the condition have been reported worldwide. |
genetic changes | What are the genetic changes related to hand-foot-genital syndrome ? | Mutations in the HOXA13 gene cause hand-foot-genital syndrome. The HOXA13 gene provides instructions for producing a protein that plays an important role in development before birth. Specifically, this protein appears to be critical for the formation and development of the limbs (particularly the hands and feet), urina... |
inheritance | Is hand-foot-genital 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 hand-foot-genital syndrome ? | These resources address the diagnosis or management of hand-foot-genital syndrome: - Gene Review: Gene Review: Hand-Foot-Genital Syndrome - Genetic Testing Registry: Hand foot uterus syndrome - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Urinary Tract Infection These resources from MedlinePl... |
information | What is (are) Baraitser-Winter syndrome ? | Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain. An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid ope... |
frequency | How many people are affected by Baraitser-Winter syndrome ? | Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Baraitser-Winter syndrome ? | Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the act... |
inheritance | Is Baraitser-Winter syndrome inherited ? | This condition 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) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family. |
treatment | What are the treatments for Baraitser-Winter syndrome ? | These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 These resources from MedlinePlus offer information about the diagnosis and management of various health ... |
information | What is (are) methylmalonic acidemia ? | Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (h... |
frequency | How many people are affected by methylmalonic acidemia ? | This condition occurs in an estimated 1 in 50,000 to 100,000 people. |
genetic changes | What are the genetic changes related to methylmalonic acidemia ? | Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long term effects of methylmalonic acidemia depend on which gene is mutated and the severity of the mutation. About 60 percent of methylmalonic acidemia cases are caused by mutations in the MUT gene. This gene provides instructi... |
inheritance | Is methylmalonic acidemia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the MUT, MMAA, MMAB, MMADHC, or MCEE gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition are carriers of one copy of the mutated gene but do not show signs and symptoms ... |
treatment | What are the treatments for methylmalonic acidemia ? | These resources address the diagnosis or management of methylmalonic acidemia: - Baby's First Test: Methylmalonic Acidemia (Cobalamin Disorders) - Baby's First Test: Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) - Gene Review: Gene Review: Isolated Methylmalonic Acidemia - Genetic Testing Registry: Me... |
information | What is (are) congenital hepatic fibrosis ? | Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various molecules needed by the body and breaking down other molecules so that their components can be used or eliminated. Congenital hepatic fibrosis is characterized by malfor... |
frequency | How many people are affected by congenital hepatic fibrosis ? | Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. The total prevalence of syndromes that include congenital hepatic fibrosis as a feature is estimated to be 1 in 10,000 to 20,000 individuals. |
genetic changes | What are the genetic changes related to congenital hepatic fibrosis ? | Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown. Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include mal... |
inheritance | Is congenital hepatic fibrosis inherited ? | The various syndromes of which congenital hepatic fibrosis is often a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal reces... |
treatment | What are the treatments for congenital hepatic fibrosis ? | These resources address the diagnosis or management of congenital hepatic fibrosis: - Gene Review: Gene Review: Congenital Hepatic Fibrosis Overview - Genetic Testing Registry: Congenital hepatic fibrosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditi... |
information | What is (are) 22q11.2 deletion syndrome ? | 22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affe... |
frequency | How many people are affected by 22q11.2 deletion syndrome ? | 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mist... |
genetic changes | What are the genetic changes related to 22q11.2 deletion syndrome ? | Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the s... |
inheritance | Is 22q11.2 deletion syndrome inherited ? | The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of re... |
treatment | What are the treatments for 22q11.2 deletion syndrome ? | These resources address the diagnosis or management of 22q11.2 deletion syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Genetic Testing Registry: Asymmetric crying face association - Genetic Testing Registry: DiGeorge sequence - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Reg... |
information | What is (are) peroxisomal acyl-CoA oxidase deficiency ? | Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes ... |
frequency | How many people are affected by peroxisomal acyl-CoA oxidase deficiency ? | Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence is unknown. Only a few dozen cases have been described in the medical literature. |
genetic changes | What are the genetic changes related to peroxisomal acyl-CoA oxidase deficiency ? | Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene, which provides instructions for making an enzyme called peroxisomal straight-chain acyl-CoA oxidase. This enzyme is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many... |
inheritance | Is peroxisomal acyl-CoA oxidase 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 peroxisomal acyl-CoA oxidase deficiency ? | These resources address the diagnosis or management of peroxisomal acyl-CoA oxidase deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Pseudoneonatal adrenoleukodystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health ... |
information | What is (are) 3-M syndrome ? | 3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and skeletal abnormalities. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. Individuals with 3-M syndrome grow extremely slowly before birth, and thi... |
frequency | How many people are affected by 3-M syndrome ? | 3-M syndrome is a rare disorder. About 50 individuals with this disorder have been identified worldwide. |
genetic changes | What are the genetic changes related to 3-M syndrome ? | Mutations in the CUL7 gene cause 3-M syndrome. The CUL7 gene provides instructions for making a protein called cullin-7. This protein plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system. Cullin-7 helps to assemble a complex known as an E3 ubiquitin l... |
inheritance | Is 3-M 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 3-M syndrome ? | These resources address the diagnosis or management of 3-M syndrome: - Gene Review: Gene Review: 3-M Syndrome - Genetic Testing Registry: Three M syndrome 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surg... |
information | What is (are) 9q22.3 microdeletion ? | 9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, an... |
frequency | How many people are affected by 9q22.3 microdeletion ? | 9q22.3 microdeletion appears to be a rare chromosomal change. About three dozen affected individuals have been reported in the medical literature. |
genetic changes | What are the genetic changes related to 9q22.3 microdeletion ? | People with a 9q22.3 microdeletion are missing a sequence of at least 352,000 DNA building blocks (base pairs), also written as 352 kilobases (kb), in the q22.3 region of chromosome 9. This 352-kb segment is known as the minimum critical region because it is the smallest deletion that has been found to cause the signs ... |
inheritance | Is 9q22.3 microdeletion inherited ? | 9q22.3 microdeletions are inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 9 in each cell is sufficient to cause delayed development, intellectual disability, and the features of Gorlin syndrome. A 9q22.3 microdeletion most often occurs in p... |
treatment | What are the treatments for 9q22.3 microdeletion ? | These resources address the diagnosis or management of 9q22.3 microdeletion: - Gene Review: Gene Review: 9q22.3 Microdeletion - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome These resources from Medl... |
information | What is (are) collagen VI-related myopathy ? | Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities ... |
frequency | How many people are affected by collagen VI-related myopathy ? | Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature. |
genetic changes | What are the genetic changes related to collagen VI-related myopathy ? | Mutations in the COL6A1, COL6A2, and COL6A3 genes can cause the various forms of collagen VI-related myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells and connective tissue... |
inheritance | Is collagen VI-related myopathy inherited ? | Collagen VI-related myopathy can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Bethlem myopathy is typically inherited in an autosomal dominant manner, as are some cases of the intermediate form and a few rare instances of Ullri... |
treatment | What are the treatments for collagen VI-related myopathy ? | These resources address the diagnosis or management of collagen VI-related myopathy: - Gene Review: Gene Review: Collagen Type VI-Related Disorders - Genetic Testing Registry: Bethlem myopathy - Genetic Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy - Genetic Testing Re... |
information | What is (are) hereditary neuropathy with liability to pressure palsies ? | Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure. He... |
frequency | How many people are affected by hereditary neuropathy with liability to pressure palsies ? | Hereditary neuropathy with liability to pressure palsies is estimated to occur in 2 to 5 per 100,000 individuals. |
genetic changes | What are the genetic changes related to hereditary neuropathy with liability to pressure palsies ? | Mutations in the PMP22 gene cause hereditary neuropathy with liability to pressure palsies. Hereditary neuropathy with liability to pressure palsies is caused by the loss of one copy of the PMP22 gene or alterations within the gene. The consequences of PMP22 gene mutations are not clearly understood. Most likely, PMP2... |
inheritance | Is hereditary neuropathy with liability to pressure palsies 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 hereditary neuropathy with liability to pressure palsies ? | These resources address the diagnosis or management of hereditary neuropathy with liability to pressure palsies: - Gene Review: Gene Review: Hereditary Neuropathy with Liability to Pressure Palsies - Genetic Testing Registry: Hereditary liability to pressure palsies - MedlinePlus Encyclopedia: carpal tunnel syndrome... |
information | What is (are) familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers... |
frequency | How many people are affected by familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in 150,000 individuals. For unknown reasons, this condition affects more males than females. |
genetic changes | What are the genetic changes related to familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control ... |
inheritance | Is familial paroxysmal kinesigenic dyskinesia inherited ? | This condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. |
treatment | What are the treatments for familial paroxysmal kinesigenic dyskinesia ? | These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia - Genetic Testing Registry: Dystonia 10 These resources from MedlinePlus offer information about the diagnosis and management of various health co... |
information | What is (are) atelosteogenesis type 3 ? | Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... |
frequency | How many people are affected by atelosteogenesis type 3 ? | Atelosteogenesis type 3 is a rare disorder; its exact prevalence is unknown. About two dozen affected individuals have been identified. |
genetic changes | What are the genetic changes related to atelosteogenesis type 3 ? | Mutations in the FLNB gene cause atelosteogenesis type 3. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another prot... |
inheritance | Is atelosteogenesis type 3 inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
treatment | What are the treatments for atelosteogenesis type 3 ? | These resources address the diagnosis or management of atelosteogenesis type 3: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tes... |
information | What is (are) Walker-Warburg syndrome ? | Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-War... |
frequency | How many people are affected by Walker-Warburg syndrome ? | Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide. |
genetic changes | What are the genetic changes related to Walker-Warburg syndrome ? | Walker-Warburg syndrome can be caused by mutations in one of several genes, including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE. The proteins produced from these genes modify another protein called alpha ()-dystroglycan; this modification, called glycosylation, is required for -dystroglycan to function. The -dystroglyc... |
inheritance | Is Walker-Warburg 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 Walker-Warburg syndrome ? | These resources address the diagnosis or management of Walker-Warburg syndrome: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Genetic Testing Registry: Walker-Warburg congenital muscular dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various... |
information | What is (are) Smith-Magenis syndrome ? | Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis syn... |
frequency | How many people are affected by Smith-Magenis syndrome ? | Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. Researchers believe that many people with this condition are not diagnosed, however, so the true prevalence may be closer to 1 in 15,000 individuals. |
genetic changes | What are the genetic changes related to Smith-Magenis syndrome ? | Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, in each cell is responsible for most of the characteristic features of this condition. The lo... |
inheritance | Is Smith-Magenis syndrome inherited ? | Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family. |
treatment | What are the treatments for Smith-Magenis syndrome ? | These resources address the diagnosis or management of Smith-Magenis syndrome: - Gene Review: Gene Review: Smith-Magenis Syndrome - Genetic Testing Registry: Smith-Magenis syndrome - MedlinePlus Encyclopedia: Intellectual Disability These resources from MedlinePlus offer information about the diagnosis and managem... |
information | What is (are) glycogen storage disease type VI ? | Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver. The signs and symptoms of GSDVI typically begin in infancy ... |
frequency | How many people are affected by glycogen storage disease type VI ? | The exact prevalence of GSDVI is unknown. At least 11 cases have been reported in the medical literature, although this condition is likely to be underdiagnosed because it can be difficult to detect in children with mild symptoms or adults with no symptoms. GSDVI is more common in the Old Older Mennonite population, wi... |
genetic changes | What are the genetic changes related to glycogen storage disease type VI ? | Mutations in the PYGL gene cause GSDVI. The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme is found only in liver cells, where it breaks down glycogen into a type of sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simp... |
inheritance | Is glycogen storage disease type VI 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 VI ? | These resources address the diagnosis or management of glycogen storage disease type VI: - Gene Review: Gene Review: Glycogen Storage Disease Type VI - Genetic Testing Registry: Glycogen storage disease, type VI These resources from MedlinePlus offer information about the diagnosis and management of various health ... |
information | What is (are) ring chromosome 14 syndrome ? | Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of i... |
frequency | How many people are affected by ring chromosome 14 syndrome ? | Ring chromosome 14 syndrome appears to be a rare condition, although its prevalence is unknown. More than 50 affected individuals have been reported in the medical literature. |
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