variegate porphyria
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Variegate porphyria — Classification and external resources Protoporphyrinogen IX ICD 10 E … Wikipedia
porphyria variegata — variegate porphyria (VP) an autosomal dominant hepatic porphyria due to mutation in the PPOX gene (locus: 1q22), which encodes protoporphyrinogen oxidase, resulting in partial deficiency of enzyme activity. It is characterized by various… … Medical dictionary
Porphyria — This article is about the medical condition. For other uses, see Porphyry (disambiguation). Porphyria Classification and external resources ICD 10 E80.0 E80.2 … Wikipedia
porphyria — /pawr fear ee euh, fuy ree euh/, n. Pathol. a defect of blood pigment metabolism in which porphyrins are produced in excess, are present in the blood, and are found in the urine. Also called hematoporphyria. [1920 25; PORPHYR(IN) + IA] * * * ▪… … Universalium
Porphyria — Any of a group of inherited diseases characterized by skin sensitivity to sunlight and/or by intermittent acute attacks of abdominal and nerve pain. The porphyrias are caused by enzyme defects that trigger the overproduction of porphyrins by the… … Medical dictionary
hepatic porphyria — porphyria in which the excess formation of porphyrin or its precursors is found in the liver; it includes acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria … Medical dictionary
Aminolevulinic acid dehydratase deficiency porphyria — (also known as Doss porphyria, [1] and Plumboporphyria [1]) is a cutaneous condition, disease can present during early childhood (as well as in adulthood) with acute neurologic symptoms that resemble those encountered in acute intermittent… … Wikipedia
Hepatic porphyria — Hepatic porphyrias is a form of porphyria which primarily affect the liver. Examples include * hereditary coproporphyria * acute intermittent porphyria * porphyria cutanea tarda * hepatoerythropoietic porphyria * variegate porphyriaee also*… … Wikipedia
mixed porphyria — South African genetic porphyria variegate p … Medical dictionary
PPOX — Protoporphyrinogen oxidase, also known as PPOX, is a human gene.cite web | title = Entrez Gene: PPOX protoporphyrinogen oxidase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=5498| accessdate = ] PBB… … Wikipedia
Hereditary coproporphyria — Classification and external resources Coproporphyrinogen III ICD 10 E … Wikipedia
