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Disease Protoporphyria, Erythropoietic

Name Protoporphyria, Erythropoietic
Synonyms Deficiencies, Ferrochelatase | Deficiencies, Heme Synthetase | Deficiency, Ferrochelatase | Deficiency, Heme Synthetase | EPP | Erythrohepatic Protoporphyria | Erythropoietic Protoporphyria | Erythropoietic Protoporphyrias | Ferrochelatase Deficiencies | Ferrochelatase Deficiency | Heme Synthetase Deficiencies | Heme Synthetase Deficiency | Protoporphyrias, Erythropoietic | Synthetase Deficiencies, Heme | Synthetase Deficiency, Heme
Definition An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.
Categories Digestive system disease | Genetic disease (inborn) | Metabolic disease | Skin disease
MeSH® ID D046351
OMIM® ID 177000
External Links

Top ↑ Ancestors

1. DiseasesDigestive System Diseases Has associated chemicals Has associated genes Has associated exposure references Liver Diseases Has associated chemicals Has associated genes Has associated exposure references Porphyrias, Hepatic Has associated chemicals Has associated genes Protoporphyria, Erythropoietic Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Porphyrias, Hepatic Has associated chemicals Has associated genes Protoporphyria, Erythropoietic Has associated chemicals Has associated genes
3. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Porphyrias, Hepatic Has associated chemicals Has associated genes Protoporphyria, Erythropoietic Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Porphyrias Has associated chemicals Has associated genes Porphyrias, Hepatic Has associated chemicals Has associated genes Protoporphyria, Erythropoietic Has associated chemicals Has associated genes

Top ↑ Descendants

Protoporphyria, Erythropoietic Has associated chemicals Has associated genes
  PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED Has associated chemicals Has associated genes
  Protoporphyria, Erythropoietic, X-Linked Dominant