hepatoerythropoietic porphyria

hepatoerythropoietic porphyria
(HEP) a severe homozygous form of porphyria cutanea tarda (PCT) type II, believed to result from an autosomal dominant defect in uroporphyrinogen decarboxylase activity; it is clinically identical to PCT but onset is in early childhood and enzyme activity in liver, erythrocytes, and fibroblasts is virtually absent.

Medical dictionary. 2011.

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  • Hepatoerythropoietic porphyria — Infobox Disease Name = Hepatoerythropoietic porphyria Caption = UroD drawn from PDB|1URO. Width = 150 DiseasesDB = 29123 ICD10 = ICD10|E|80|2|e|70 (ILDS E80.282) ICD9 = ICD9|277.1 ICDO = OMIM = 176100 MedlinePlus = eMedicineSubj = eMedicineTopic …   Wikipedia

  • Porphyria cutanea tarda — Literally, the late skin form of porphyria, a genetic photosensitive (light sensitive) skin disease with onset in adult life with substances called uroporphyrins in the urine due to a deficiency of uroporphyrinogen decarboxylase (UROD), an enzyme …   Medical dictionary

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  • 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

  • Variegate porphyria — Classification and external resources Protoporphyrinogen IX ICD 10 E …   Wikipedia

  • 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

  • Uroporphyrinogen III decarboxylase — Uroporphyrinogen decarboxylase, also known as UROD, is a human gene.cite web | title = Entrez Gene: UROD uroporphyrinogen decarboxylase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=7389| accessdate = ]… …   Wikipedia

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  • 1-я хромосома человека — Идиограмма 1 й хромосомы человека 1 я хромосома человека  самая большая из 23 человеческих хромосом, одна из 22 аутосом человека. Хромосома содержит около 248 млн пар оснований …   Википедия

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