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Ontology Browser

Erythropoietic Protoporphyria 1 (DOID:9004435)
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Parent Terms Term With Siblings Child Terms
Erythropoietic Protoporphyria 1  
Erythropoietic protoporphyria-1 (EPP1) is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase (FECH), the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels. EPP1 is caused by compound heterozygous or homozygous mutation in FECH on chromosome 18q21. The disorder most often results from inheritance of a null FECH allele in trans with a low-expression FECH mutation prevalent in some populations, resembling autosomal dominant inheritance with incomplete penetrance. (OMIM)
Erythropoietic Protoporphyria 2  
Erythropoietic Protoporphyria, X-Linked Dominant  

Exact Synonyms: EPP1
Primary IDs: OMIM:177000

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