has material basis in germline mutation in HMBS hepatic porphyria inherited porphyria HMBS-related hepatic porphyria https://github.com/monarch-initiative/mondo/issues/9703 GARD:0028037 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. HMBS-related hepatic porphyria MONDO:0700382