harderoporphyria
MONDO:0030048Mondo
Findings
No curated finding names harderoporphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- 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.
- Increased fecal harderoporphyrinHPOHP:0034472
- 3 of 3 reported patients
- Increased urine harderoporphyrin levelHPOHP:0033627
- 13 of 13 reported patients
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 recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: harderoporphyria
- Also called
- HARPO