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genetic changes | What are the genetic changes related to alternating hemiplegia of childhood ? | Alternating hemiplegia of childhood is primarily caused by mutations in the ATP1A3 gene. Very rarely, a mutation in the ATP1A2 gene is involved in the condition. These genes provide instructions for making very similar proteins. They function as different forms of one piece, the alpha subunit, of a larger protein compl... |
inheritance | Is alternating hemiplegia of childhood inherited ? | Alternating hemiplegia of childhood is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of alternating hemiplegia of childhood result from new mutations in the gene and occur in people with no history of the disorder in the... |
treatment | What are the treatments for alternating hemiplegia of childhood ? | These resources address the diagnosis or management of alternating hemiplegia of childhood: - The Great Ormond Street Hospital - University of Utah School of Medicine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Thera... |
information | What is (are) progressive familial intrahepatic cholestasis ? | Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. Sig... |
frequency | How many people are affected by progressive familial intrahepatic cholestasis ? | PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC type 1 is much more common in the Inuit population of Greenland and the Old Order Amish population of the United States. |
genetic changes | What are the genetic changes related to progressive familial intrahepatic cholestasis ? | Mutations in the ATP8B1, ABCB11, and ABCB4 genes can cause PFIC. ATP8B1 gene mutations cause PFIC1. The ATP8B1 gene provides instructions for making a protein that helps to maintain an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secre... |
inheritance | Is progressive familial intrahepatic cholestasis 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 progressive familial intrahepatic cholestasis ? | These resources address the diagnosis or management of progressive familial intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 2 - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 3 - Genetic Testin... |
information | What is (are) megalencephalic leukoencephalopathy with subcortical cysts ? | Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. Megalencephaly leads to an increase in the size ... |
frequency | How many people are affected by megalencephalic leukoencephalopathy with subcortical cysts ? | Megalencephalic leukoencephalopathy with subcortical cysts is a rare condition; its exact prevalence is unknown. More than 150 cases have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to megalencephalic leukoencephalopathy with subcortical cysts ? | Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. The MLC1 gene provides instructions for producing a protein that is made primarily in the brain. The MLC1 protein is found in astroglial cells, which are a specialized form... |
inheritance | Is megalencephalic leukoencephalopathy with subcortical cysts inherited ? | All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a gene in each cell have mutations.... |
treatment | What are the treatments for megalencephalic leukoencephalopathy with subcortical cysts ? | These resources address the diagnosis or management of megalencephalic leukoencephalopathy with subcortical cysts: - Gene Review: Gene Review: Megalencephalic Leukoencephalopathy with Subcortical Cysts - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts - Genetic Testing Registry: ... |
information | What is (are) trimethylaminuria ? | Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong ... |
frequency | How many people are affected by trimethylaminuria ? | Trimethylaminuria is an uncommon genetic disorder; its incidence is unknown. |
genetic changes | What are the genetic changes related to trimethylaminuria ? | Mutations in the FMO3 gene cause trimethylaminuria. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. This compound is produced by bacteria in the intestine during the digestion of proteins from eggs, liver, legumes (such as soyb... |
inheritance | Is trimethylaminuria inherited ? | Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms ... |
treatment | What are the treatments for trimethylaminuria ? | These resources address the diagnosis or management of trimethylaminuria: - Gene Review: Gene Review: Primary Trimethylaminuria - Genetic Testing Registry: Trimethylaminuria - Monell Chemical Senses Center: TMAU & Body Malodors - National Human Genome Research Institute: Diagnosis and Treatment of Trimethylaminuria... |
information | What is (are) horizontal gaze palsy with progressive scoliosis ? | Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their ... |
frequency | How many people are affected by horizontal gaze palsy with progressive scoliosis ? | HGPPS has been reported in several dozen families worldwide. |
genetic changes | What are the genetic changes related to horizontal gaze palsy with progressive scoliosis ? | HGPPS is caused by mutations in the ROBO3 gene. This gene provides instructions for making a protein that is important for the normal development of certain nerve pathways in the brain. These include motor nerve pathways, which transmit information about voluntary muscle movement, and sensory nerve pathways, which tran... |
inheritance | Is horizontal gaze palsy with progressive scoliosis 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 horizontal gaze palsy with progressive scoliosis ? | These resources address the diagnosis or management of HGPPS: - Genetic Testing Registry: Gaze palsy, familial horizontal, with progressive scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... |
information | What is (are) primary macronodular adrenal hyperplasia ? | Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargeme... |
frequency | How many people are affected by primary macronodular adrenal hyperplasia ? | PMAH is a rare disorder. It is present in less than 1 percent of cases of endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by factors internal to the body rather than by external factors such as long-term use of certain medicines called corticosteroids. The prevalence of endogenous Cushing ... |
genetic changes | What are the genetic changes related to primary macronodular adrenal hyperplasia ? | In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. ARMC5 gene mutati... |
inheritance | Is primary macronodular adrenal hyperplasia inherited ? | People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. The inheritance is considered autosomal dominant because one copy of the mutated gene is sufficient to make an individual susceptible to PMAH. However, the condition develops only when affected individuals acquire another... |
treatment | What are the treatments for primary macronodular adrenal hyperplasia ? | These resources address the diagnosis or management of PMAH: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Adrenal Gland Disorders? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What are the Treatments for ... |
information | What is (are) Baller-Gerold syndrome ? | Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the hea... |
frequency | How many people are affected by Baller-Gerold syndrome ? | The prevalence of Baller-Gerold syndrome is unknown, but this rare condition probably affects fewer than 1 per million people. Fewer than 40 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Baller-Gerold syndrome ? | Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary f... |
inheritance | Is Baller-Gerold 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 Baller-Gerold syndrome ? | These resources address the diagnosis or management of Baller-Gerold syndrome: - Gene Review: Gene Review: Baller-Gerold Syndrome - Genetic Testing Registry: Baller-Gerold syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Skull of a Newborn (image) These resources from MedlinePlus ... |
information | What is (are) Usher syndrome ? | Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of th... |
frequency | How many people are affected by Usher syndrome ? | Usher syndrome is thought to be responsible for 3 percent to 6 percent of all childhood deafness and about 50 percent of deaf-blindness in adults. Usher syndrome type I is estimated to occur in at least 4 per 100,000 people. It may be more common in certain ethnic populations, such as people with Ashkenazi (central and... |
genetic changes | What are the genetic changes related to Usher syndrome ? | Mutations in the ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes can cause Usher syndrome. The genes related to Usher syndrome provide instructions for making proteins that play important roles in normal hearing, balance, and vision. They function in the development and maintenance of hair cells, wh... |
inheritance | Is Usher 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 Usher syndrome ? | These resources address the diagnosis or management of Usher syndrome: - Gene Review: Gene Review: Usher Syndrome Type I - Gene Review: Gene Review: Usher Syndrome Type II - Genetic Testing Registry: Usher syndrome type 2 - Genetic Testing Registry: Usher syndrome, type 1 - Genetic Testing Registry: Usher syndrome... |
information | What is (are) hereditary angioedema ? | Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes invo... |
frequency | How many people are affected by hereditary angioedema ? | Hereditary angioedema is estimated to affect 1 in 50,000 people. Type I is the most common, accounting for 85 percent of cases. Type II occurs in 15 percent of cases, and type III is very rare. |
genetic changes | What are the genetic changes related to hereditary angioedema ? | Mutations in the SERPING1 gene cause hereditary angioedema type I and type II. The SERPING1 gene provides instructions for making the C1 inhibitor protein, which is important for controlling inflammation. C1 inhibitor blocks the activity of certain proteins that promote inflammation. Mutations that cause hereditary ang... |
inheritance | Is hereditary angioedema 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 result from new mutations in the gene and occur in people with no histor... |
treatment | What are the treatments for hereditary angioedema ? | These resources address the diagnosis or management of hereditary angioedema: - Genetic Testing Registry: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor - Genetic Testing Registry: Hereditary angioneurotic edema - Genetic Testing Registry: Hereditary angioneurotic edema with normal C1 esterase in... |
information | What is (are) Proteus syndrome ? | Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with ... |
frequency | How many people are affected by Proteus syndrome ? | Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature. Researchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overg... |
genetic changes | What are the genetic changes related to Proteus syndrome ? | Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with ... |
inheritance | Is Proteus syndrome inherited ? | Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families. |
treatment | What are the treatments for Proteus syndrome ? | These resources address the diagnosis or management of Proteus syndrome: - Gene Review: Gene Review: Proteus Syndrome - Genetic Testing Registry: Proteus syndrome - Proteus Syndrome Foundation: Diagnostic Criteria and FAQs These resources from MedlinePlus offer information about the diagnosis and management of var... |
information | What is (are) cytochrome c oxidase deficiency ? | Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected indiv... |
frequency | How many people are affected by cytochrome c oxidase deficiency ? | In Eastern Europe, cytochrome c oxidase deficiency is estimated to occur in 1 in 35,000 individuals. The prevalence of this condition outside this region is unknown. |
genetic changes | What are the genetic changes related to cytochrome c oxidase deficiency ? | Cytochrome c oxidase deficiency is caused by mutations in one of at least 14 genes. In humans, most genes are found in DNA in the cell's nucleus (nuclear DNA). However, some genes are found in DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA (mtDNA). Most cas... |
inheritance | Is cytochrome c oxidase deficiency inherited ? | Cytochrome c oxidase deficiency can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in genes within nuclear DNA, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individua... |
treatment | What are the treatments for cytochrome c oxidase deficiency ? | These resources address the diagnosis or management of cytochrome c oxidase deficiency: - Cincinnati Children's Hospital: Acute Liver Failure - Cincinnati Children's Hospital: Cardiomyopathies - Genetic Testing Registry: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency - Genetic Test... |
information | What is (are) X-linked hyper IgM syndrome ? | X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, mark... |
frequency | How many people are affected by X-linked hyper IgM syndrome ? | X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn boys. |
genetic changes | What are the genetic changes related to X-linked hyper IgM syndrome ? | Mutations in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune sys... |
inheritance | Is X-linked hyper IgM syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... |
treatment | What are the treatments for X-linked hyper IgM syndrome ? | These resources address the diagnosis or management of X-linked hyper IgM syndrome: - Gene Review: Gene Review: X-Linked Hyper IgM Syndrome - Genetic Testing Registry: Immunodeficiency with hyper IgM type 1 - MedlinePlus Encyclopedia: Immunodeficiency Disorders These resources from MedlinePlus offer information ab... |
information | What is (are) autosomal recessive primary microcephaly ? | Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head." Infants with MCPH have an unusually small head c... |
frequency | How many people are affected by autosomal recessive primary microcephaly ? | The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. About 200 families with MCPH have been reported in the medical literature. This condition is more common in several specific populations, such as in northern Pakista... |
genetic changes | What are the genetic changes related to autosomal recessive primary microcephaly ? | MCPH can result from mutations in at least seven genes. Mutations in the ASPM gene are the most common cause of the disorder, accounting for about half of all cases. The genes associated with MCPH play important roles in early brain development, particularly in determining brain size. Studies suggest that the proteins... |
inheritance | Is autosomal recessive primary microcephaly 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 autosomal recessive primary microcephaly ? | These resources address the diagnosis or management of MCPH: - Gene Review: Gene Review: Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders - Genetic Testing Registry: Primary autosomal recessive microcephaly 1 - Genetic Testing Registry: Primary autosomal recessive microcephaly 2 - G... |
information | What is (are) oculopharyngeal muscular dystrophy ? | Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but ... |
frequency | How many people are affected by oculopharyngeal muscular dystrophy ? | In Europe, the prevalence of oculopharyngeal muscular dystrophy is estimated to be 1 in 100,000 people. The autosomal dominant form of this condition is much more common in the French-Canadian population of the Canadian province of Quebec, where it is estimated to affect 1 in 1,000 individuals. Autosomal dominant oculo... |
genetic changes | What are the genetic changes related to oculopharyngeal muscular dystrophy ? | Mutations in the PABPN1 gene cause oculopharyngeal muscular dystrophy. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints ... |
inheritance | Is oculopharyngeal muscular dystrophy inherited ? | Most cases of oculopharyngeal muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with autosomal dominant oculopharyngeal muscular dystrophy have a mutation resulting in a PABPN1 protein with an expanded pol... |
treatment | What are the treatments for oculopharyngeal muscular dystrophy ? | These resources address the diagnosis or management of oculopharyngeal muscular dystrophy: - Gene Review: Gene Review: Oculopharyngeal Muscular Dystrophy - Genetic Testing Registry: Oculopharyngeal muscular dystrophy - MedlinePlus Encyclopedia: Ptosis These resources from MedlinePlus offer information about the di... |
information | What is (are) von Willebrand disease ? | Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand... |
frequency | How many people are affected by von Willebrand disease ? | Von Willebrand disease is estimated to affect 1 in 100 to 10,000 individuals. Because people with mild signs and symptoms may not come to medical attention, it is thought that this condition is underdiagnosed. Most researchers agree that von Willebrand disease is the most common genetic bleeding disorder. |
genetic changes | What are the genetic changes related to von Willebrand disease ? | Mutations in the VWF gene cause von Willebrand disease. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is essential for the formation of blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss... |
inheritance | Is von Willebrand disease inherited ? | Von Willebrand disease can have different inheritance patterns. Most cases of type 1 and type 2 von Willebrand disease are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Type 3, some cases of type 2, and a small number of type 1 c... |
treatment | What are the treatments for von Willebrand disease ? | These resources address the diagnosis or management of von Willebrand disease: - Gene Review: Gene Review: von Willebrand Disease - Genetic Testing Registry: von Willebrand disorder - MedlinePlus Encyclopedia: von Willebrand Disease These resources from MedlinePlus offer information about the diagnosis and managem... |
information | 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 ... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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... |
treatment | 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... |
information | What is (are) glutamate formiminotransferase deficiency ? | Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms. People with the mild form of glutamate formiminotransferase deficiency have minor delays in physical and mental de... |
frequency | How many people are affected by glutamate formiminotransferase deficiency ? | Glutamate formiminotransferase deficiency is a rare disorder; approximately 20 affected individuals have been identified. Of these, about one-quarter have the severe form of the disorder. Everyone reported with the severe form has been of Japanese origin. The remaining individuals, who come from a variety of ethnic bac... |
genetic changes | What are the genetic changes related to glutamate formiminotransferase deficiency ? | Mutations in the FTCD gene cause glutamate formiminotransferase deficiency. The FTCD gene provides instructions for making the enzyme formiminotransferase cyclodeaminase. This enzyme is involved in the last two steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. It also p... |
inheritance | Is glutamate formiminotransferase 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 glutamate formiminotransferase deficiency ? | These resources address the diagnosis or management of glutamate formiminotransferase deficiency: - Baby's First Test - Genetic Testing Registry: Glutamate formiminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... |
information | What is (are) Northern epilepsy ? | Northern epilepsy is a genetic condition that causes recurrent seizures (epilepsy) beginning in childhood, usually between ages 5 and 10. Seizures are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. These seizures typically last less than 5 minutes but can... |
frequency | How many people are affected by Northern epilepsy ? | Northern epilepsy appears to affect only individuals of Finnish ancestry, particularly those from the Kainuu region of northern Finland. Approximately 1 in 10,000 individuals in this region have the condition. |
genetic changes | What are the genetic changes related to Northern epilepsy ? | Mutations in the CLN8 gene cause Northern epilepsy. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in transporting materials in and out of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved ... |
inheritance | Is Northern epilepsy 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 Northern epilepsy ? | These resources address the diagnosis or management of Northern epilepsy: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant These resources from MedlinePlus offer information about the diagnosis and management of vari... |
information | What is (are) Miller syndrome ? | Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening... |
frequency | How many people are affected by Miller syndrome ? | Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Miller syndrome ? | Mutations in the DHODH gene cause Miller syndrome. This gene provides instructions for making an enzyme called dihydroorotate dehydrogenase. This enzyme is involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the ... |
inheritance | Is Miller 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 Miller syndrome ? | These resources address the diagnosis or management of Miller syndrome: - Genetic Testing Registry: Miller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... |
information | What is (are) Ehlers-Danlos syndrome ? | Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. ... |
frequency | How many people are affected by Ehlers-Danlos syndrome ? | Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classical forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, wh... |
genetic changes | What are the genetic changes related to Ehlers-Danlos syndrome ? | Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. The classical type results most often from mutations in either the COL5A1 gene or the COL5A2 gene. Mutations in the TNXB gene have been found in a very small percentage of cases of the hypermobility type (although in most cases, the c... |
inheritance | Is Ehlers-Danlos syndrome inherited ? | The inheritance pattern of Ehlers-Danlos syndrome varies by type. The arthrochalasia, classical, hypermobility, and vascular forms of the disorder have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. I... |
treatment | What are the treatments for Ehlers-Danlos syndrome ? | These resources address the diagnosis or management of Ehlers-Danlos syndrome: - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Classic Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Hypermobility Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Kyphoscoliotic Form - Gene Review: Gene Review: V... |
information | What is (are) Werner syndrome ? | Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance ... |
frequency | How many people are affected by Werner syndrome ? | Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in 40,000 people. |
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