hepatoerythropoietic porphyria
MONDO:0019799Mondo
Findings
No curated finding names hepatoerythropoietic porphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.
Definition from the Mondo Disease Ontology (MONDO:0019799), read 2026-09-29. CC BY 4.0.
Features
37 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.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Fragile skinHPOHP:0001030
- Very frequent (80% to 99% of cases)
- Severe photosensitivityHPOHP:0007537
- Very frequent (80% to 99% of cases)
- Abnormal circulating porphyrin concentrationHPOHP:0010472
- Frequent (30% to 79% of cases)
- ErythrodontiaHPOHP:0030756
- Frequent (30% to 79% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Frequent (30% to 79% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Frequent (30% to 79% of cases)
- Increased fecal porphyrinHPOHP:0032999
- Frequent (30% to 79% of cases)
- Nonimmune hydrops fetalisHPOHP:0001790
- Frequent (30% to 79% of cases)
- Purple urineHPOHP:0040322
- Frequent (30% to 79% of cases)
- Recurrent bacterial skin infectionsHPOHP:0005406
- Frequent (30% to 79% of cases)
Show the remaining 25
- Red urineHPOHP:0040318
- Frequent (30% to 79% of cases)
- Red-brown urineHPOHP:0040320
- Frequent (30% to 79% of cases)
- ScarringHPOHP:0100699
- Frequent (30% to 79% of cases)
- Skin erosionHPOHP:0200041
- Frequent (30% to 79% of cases)
- Abnormal bleedingHPOHP:0001892
- Occasional (5% to 29% of cases)
- Abnormality of the amniotic fluidHPOHP:0001560
- 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.
- URODHGNC:12591
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: hepatoerythropoietic porphyria
- Also called
- HEP