UROD-related inherited porphyria
Findings
No curated finding names UROD-related inherited porphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Porphyria caused by monoallelic and biallelic variants in UROD and presenting as a spectrum of disease (a semidominant inheritance pattern). Additionally, environmental factors almost always play a role in the disease. Monoallelic variants when exacerbated by environmental factors can result in episodic adult onset of photosensitivity. Biallelic variants that reduce WT enzyme activity <20% cause childhood onset of photosensitivity and sometimes liver damage.
Definition from the Mondo Disease Ontology (MONDO:0100498), 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.
- URODHGNC:12591
- Definitive · Ambry Genetics · Semidominant · 2024
- Definitive · ClinGen · Semidominant · 2022
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: UROD-related inherited porphyria
- Also called
- UROD-related porphyria