Hepatoerythropoietic porphyria

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 =
MeshID = D017121

Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in the gene which codes Uroporphyrinogen III decarboxylase (UROD).

It is sometimes called porphyria cutanea tarda type 2.

External links

*
*RareDiseases|6169|Hepatoerythropoietic porphyria


Wikimedia Foundation. 2010.

Игры ⚽ Нужна курсовая?

Look at other dictionaries:

  • 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 …   Medical dictionary

  • 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

  • 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 — 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

  • Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система …   Википедия

  • 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

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”