protoporphyria, erythropoietic, 1
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.
MONDO:0019263
autosomal erythropoietic protoporphyria
is_a
EPP
related
EPP1
exact
FECH-related erythropoietic protoporphyria
exact
erythrohepatic protoporphyria
related
erythropoietic protoporphyria
broad
ferrochelatase deficiency
exact
heme synthetase deficiency
exact
protoporphyria, erythropoietic
broad
protoporphyria, erythropoietic, 1
exact
SPCC320.09