autosomal erythropoietic protoporphyria
Findings
No curated finding names autosomal erythropoietic protoporphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Definition from the Mondo Disease Ontology (MONDO:0019263), read 2026-09-29. CC BY 4.0.
Features
10 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 circulating porphyrin concentrationHPOHP:0010472
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Very frequent (80% to 99% of cases)
- ErythemaHPOHP:0010783
- Very frequent (80% to 99% of cases)
- PruritusHPOHP:0000989
- Very frequent (80% to 99% of cases)
- CholelithiasisHPOHP:0001081
- Occasional (5% to 29% of cases)
- CirrhosisHPOHP:0001394
- Occasional (5% to 29% of cases)
- Decreased liver functionHPOHP:0001410
- Occasional (5% to 29% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Occasional (5% to 29% of cases)
- EdemaHPOHP:0000969
- Occasional (5% to 29% of cases)
- Microcytic anemiaHPOHP:0001935
- 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.
- FECHHGNC:3647
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: autosomal erythropoietic protoporphyria
- Also called
- EPP