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Summary
PROTOPORPHYRIA, ERYTHROPOIETIC (EPP)
FERROCHELATASE DEFICIENCY
177000
OMIM = Online Medalian Inheritance of Men
79278
18q21.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
autosomal recessive
symptoms
anemia
dermatitis
edema
gallstones, cholelithiasis
liver failure
liver involvement (acute, chronic, hepatitis)
onset, child
onset, infant
photophobia or photosensitive defect in light-exposed area
laboratory finding
Ferritin normal-decreasedserum
Iron normal-decreasedserum
Literature