autosomal dominant hypophosphatemic rickets

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 factor family. Clinically it is similar to X-linked hypophosphatemia but shows incomplete penetrance and variable age at onset.

Medical dictionary. 2011.

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  • 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

  • familial hypophosphatemic rickets — any of several inherited disorders of proximal renal tubular function causing phosphate loss, hypophosphatemia, and skeletal deformities, including rickets and osteomalacia. The group is genetically heterogeneous and clinically variable. See X… …   Medical dictionary

  • Rickets — A disease of infants and children that disturbs normal bone formation (ossification). Rickets is a failure to mineralize bone. This softens bone (producing osteomalacia) and permits marked bending and distortion of bones. Up through the first… …   Medical dictionary

  • hypophosphatemic bone disease — an autosomal dominant disorder clinically resembling a mild form of X linked hypophosphatemia and similarly due to a defect in renal tubular function, but usually showing osteomalacia without radiographic evidence of rickets and responding to… …   Medical dictionary

  • ADHR — autosomal dominant hypophosphatemic rickets …   Medical dictionary

  • Fibroblast growth factor 23 — or FGF23 is gene which is a member of the fibroblast growth factor (FGF) family and encodes a protein which is responsible for phosphate metabolism.FGF family members possess broad mitogenic and cell survival activities and are involved in a… …   Wikipedia

  • Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or …   Wikipedia

  • List of diseases (H) — A list of diseases in the English wikipedia.DiseasesTOC HaHag Ham* Hageman factor deficiency * Hagemoser Weinstein Bresnick syndrome * Hailey Hailey disease * Hair defect with photosensitivity and mental retardation * Hairy cell leukemia * Hairy… …   Wikipedia

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