autosomal dominant
Gene located on an autosome that has a dominant effect - even though two copies of the gene exist, one of them normal. Often attributed to a gain-of-function.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • Autosomal dominant — A gene on one of the autosomes (non sex chromosomes) that, if present, will almost always produce a specific trait or disease. An autosomal dominant disorder can be inherited when only one parent passes on the gene. The chance of passing the gene …   Medical dictionary

  • autosomal dominant — see dominant …   The new mediacal dictionary

  • Autosomal dominant nocturnal frontal lobe epilepsy — (ADNFLE) is a rare epileptic disorder that causes frequent violent seizures during sleep. These seizures often involve complex motor movements, such as hand clenching, arm raising/lowering, and knee bending. Vocalizations such as shouting,… …   Wikipedia

  • Autosomal dominant hypophosphatemic rickets — (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23 (FGF23). ADHR affects… …   Wikipedia

  • Autosomal dominant hereditary spastic paraplegia — A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD HSP. Spasticity is a state of increased muscle tone. Paraplegia refers to the legs (quadriplegia refers to both the arms and legs). In hereditary spastic …   Medical dictionary

  • autosomal dominant hypophosphatemic rickets — (ADHR), autosomal dominant vitamin D–resistant rickets a form of familial hypophosphatemic rickets with autosomal dominant inheritance and caused by mutation in the FGF23 gene (locus: 12p13.3), which encodes a member of the fibroblast growth… …   Medical dictionary

  • autosomal dominant disease — noun a disease caused by a dominant mutant gene on an autosome • Syn: ↑autosomal dominant disorder • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ …   Useful english dictionary

  • autosomal dominant disorder — noun a disease caused by a dominant mutant gene on an autosome • Syn: ↑autosomal dominant disease • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ …   Useful english dictionary

  • autosomal dominant hypercholesterolemia — a genetically heterogeneous, autosomal domininant disorder of lipoprotein metabolism characterized by elevated LDL cholesterol, with development of tendinous xanthomas, corneal arcus, and coronary artery disease. The most common type is familial… …   Medical dictionary

  • autosomal dominant polycystic kidney disease — (ADPKD) see polycystic kidney d …   Medical dictionary

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