Harderoporphyria
id:
harderoporphyria-201-7319964
title:
Harderoporphyria
text:
Harderoporphyria is a rare disorder of heme biosynthesis, inherited in an autosomal recessive manner caused by specific mutations in the CPOX gene. Mutations in CPOX usually cause hereditary coproporphyria, an acute hepatic porphyria, however the K404E mutation in a homozygous or compound heterozygous state with a null allele cause the more severe harderoporphyria. Harderoporphyria is the first known metabolic disorder where the disease phenotype depended on the type and location of the mutation
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Harderoporphyria
date created:
date modified:
2023-12-03T05:09:01Z
main entity:
{"identifier":"Q5655924","url":"https://www.wikidata.org/entity/Q5655924"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/a/a2/Coproporphyrinogen_III.svg","width":508,"height":358}
fields total:
13
integrity:
15