has material basis in germline mutation in FECH protoporphyria, erythropoietic, 1 https://github.com/monarch-initiative/mondo/issues/9703 EPP GARD:0024616 NANDO:1200815 protoporphyria, erythropoietic An erythropoietic protoporphyria caused by biallelic variants in FECH (an autosomal recessive inheritance pattern) and causing primarily accumulation of protoporphyrin IX. Symptoms include extremely painful photosensitivity in childhood, possible microcytic anemia, cholelithiasis, and ~5% of patients develop liver failure. The majority of individuals with FECH-related erythropoietic protoporphyria harbor a hypomorphic variant (NM_000140.5:c.315-48T>C), which reduces enzyme levels by ~35%, in trans to a second pathogenic variant. Clinically individuals with this form of porphyria cannot be distinguished from those with ALAS2-related erythropoietic protoporphyria. erythropoietic protoporphyria FECH-related erythropoietic protoporphyria MEDGEN:1643471 ferrochelatase deficiency NANDO:2201266 MONDO:0008319 heme synthetase deficiency OMIM:177000 erythrohepatic protoporphyria protoporphyria, erythropoietic, 1 UMLS:C4692546 EPP1 NCIT:C84698 autosomal erythropoietic protoporphyria