CPOX-related hereditary coproporphyria
Findings
No curated finding names CPOX-related hereditary coproporphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A porphyria caused by monoallelic and biallelic variants in CPOX and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants typically cause acute/episodic neurovisceral attacks with adolescent or adult onset, characterized by severe abdominal pain as well as acute motor neuropathy and other neurological symptoms. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases with biallelic variants have symptoms in infancy, including hemolytic anemia, enlarged liver and spleen (hepatosplenomegaly), and severe jaundice. Additional symptoms may include erythrodontia, red urine, fragile skin, and cutaneous photosensitivity leading to scarring of sun-exposed skin.
Definition from the Mondo Disease Ontology (MONDO:0800180), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CPOXHGNC:2321
- Definitive · ClinGen · Semidominant · 2023
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: CPOX-related hereditary coproporphyria
- Also called
- CPOX-related hepatic porphyria