hereditary coproporphyria
Findings
No curated finding names hereditary coproporphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.
Definition from the Mondo Disease Ontology (MONDO:0007369), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating heptacarboxylporphyrin concentrationHPOHP:6000698
- 1 of 1 reported patient
- Increased fecal coproporphyrin 3HPOHP:0033010
- 4 of 4 reported patients
- Abdominal painHPOHP:0002027
- 1 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal circulating porphyrin concentrationHPOHP:0010472
- Very frequent (80% to 99% of cases)
- Elevated urinary delta-aminolevulinic acidHPOHP:0003163
- 4 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal skin morphologyHPOHP:0011121
- Frequent (30% to 79% of cases)
Show the remaining 23
- NauseaHPOHP:0002018
- Frequent (30% to 79% of cases)
- PorphyrinuriaHPOHP:0010473
- Frequent (30% to 79% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Frequent (30% to 79% of cases)
- Proximal upper limb muscle weaknessHPOHP:0008997
- Frequent (30% to 79% of cases)
- Abnormal blistering of the skinHPOHP:0008066
- Occasional (5% to 29% of cases)
- Back painHPOHP:0003418
- Occasional (5% to 29% of cases)
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
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: hereditary coproporphyria
- Also called
- coproporphyrinogen oxidase deficiency