HMBS-related hepatic porphyria
Findings
No curated finding names HMBS-related hepatic porphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hepatic porphyria caused by monoallelic and biallelic variants in HMBS and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants predispose to acute/episodic attacks in adulthood with abdominal pain, neuropathy, and neuropsychiatric symptoms (women are more often affected) without cutaneous manifestations. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Biallelic variants cause severe disease in childhood presenting with neurological issues including developmental abnormalities, ataxia, dysarthria, leukoencephalopathy, cataracts and optic nerve hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0700382), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of