familial porphyria cutanea tarda
Findings
No curated finding names familial porphyria cutanea tarda yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.
Definition from the Mondo Disease Ontology (MONDO:0008296), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- PorphyrinuriaHPOHP:0010473
- 1 of 1 reported patient
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
- 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
3 names
Resolves to: familial porphyria cutanea tarda
- Also called
- hereditary porphyria cutanea tardaporphyria cutanea tarda type IIporphyria cutanea tarda, susceptibility to