Details of Disease

General Information of Disease (ID: DISDXYP2)

Disease Name Hereditary coproporphyria
Synonyms
Cpo deficiency; HCP; porphyria hepatica II; coproporphyria, hereditary; Cpox deficiency; porphyria hepatica coproporphyria; coproporphyria; CPRO deficiency; coproporphyria hereditary; Harderoporphyria; Cpx deficiency; coproporphyrinogen oxidase deficiency; hereditary coproporphyria; hereditary coproporphyria porphyria
Definition A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.
Disease Hierarchy
DISKRUWP: CPOX-related hereditary coproporphyria
DISMI8EV: Hepatic porphyria
DISDXYP2: Hereditary coproporphyria
Disease Identifiers
MONDO ID
MONDO_0007369
MESH ID
D046349
UMLS CUI
C0162531
OMIM ID
121300
MedGen ID
57931
Orphanet ID
79273
SNOMED CT ID
7425008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALAS1 TTG1FXO Strong Biomarker [1]
HRC TTR4FKD Strong Biomarker [2]
PPOX TTNFMS9 Strong Genetic Variation [3]
PRSS1 TT2WR1T Strong Genetic Variation [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACSM3 OT0AE1IV Strong Biomarker [5]
CPO OTOIG8C9 Strong Genetic Variation [6]
CPOX OTIAY121 Strong Autosomal dominant [7]
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References

1 A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.Scand J Clin Lab Invest. 2019 Sep;79(5):305-313. doi: 10.1080/00365513.2019.1622030. Epub 2019 Jun 1.
2 Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias.Mol Genet Metab. 2019 Nov;128(3):228-235. doi: 10.1016/j.ymgme.2019.05.010. Epub 2019 May 20.
3 Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.Hum Genet. 2004 Feb;114(3):256-62. doi: 10.1007/s00439-003-1059-5. Epub 2003 Dec 11.
4 Hereditary pancreatitis.Pediatr Surg Int. 2010 Dec;26(12):1193-9. doi: 10.1007/s00383-010-2684-4. Epub 2010 Aug 10.
5 Hydrocephalus after Subarachnoid Hemorrhage: Pathophysiology, Diagnosis, and Treatment.Biomed Res Int. 2017;2017:8584753. doi: 10.1155/2017/8584753. Epub 2017 Mar 8.
6 Four novel mutations of the coproporphyrinogen III oxidase gene.Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):15-8.
7 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.