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- Q823140 subject Q6949571.
- Q823140 subject Q8750387.
- Q823140 abstract "Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the CPOX gene, and is inherited in an autosomal dominant fashion, although homozygous individuals have been identified. Unlike acute intermittent porphyria, individuals with HCP can present with cutaneous findings similar to those found in porphyria cutanea tarda in addition to the acute attacks of abdominal pain, vomiting and neurological dysfunction characteristic of acute porphyrias. Like other porphyrias, attacks of HCP can be induced by certain drugs, environmental stressors or diet changes. Biochemical and molecular testing can be used to narrow down the diagnosis of a porphyria and identify the specific genetic defect. Overall, porphyrias are rare diseases. The combined incidence for all forms of the disease has been estimated at 1:20,000. The exact incidence of HCP is difficult to determine, due to its reduced penetrance.".
- Q823140 icd10 "E80.2(ILDSE80.222)".
- Q823140 icd9 "277.1".
- Q823140 meshId "D046349".
- Q823140 omim "121300".
- Q823140 thumbnail Coproporphyrinogen_III.svg?width=300.
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- Q823140 wikiPageWikiLink Q6949571.
- Q823140 wikiPageWikiLink Q7873.
- Q823140 wikiPageWikiLink Q8750387.
- Q823140 wikiPageWikiLink Q9377.
- Q823140 icd "277.1".
- Q823140 icd "E80.2".
- Q823140 meshid "D046349".
- Q823140 name "Hereditary coproporphyria".
- Q823140 omim "121300".
- Q823140 type Disease.
- Q823140 type Thing.
- Q823140 type Q12136.
- Q823140 comment "Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the CPOX gene, and is inherited in an autosomal dominant fashion, although homozygous individuals have been identified.".
- Q823140 label "Hereditary coproporphyria".
- Q823140 depiction Coproporphyrinogen_III.svg.
- Q823140 name "Hereditary coproporphyria".