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Disease Coproporphyria, Hereditary

Name Coproporphyria, Hereditary
Synonyms Coproporphyrinogen Oxidase Deficiency | CPO DEFICIENCY | CPOX DEFICIENCY | CPX DEFICIENCY HARDEROPORPHYRIA, INCLUDED | Deficiency, Coproporphyrinogen Oxidase | HCP | Hereditary Coproporphyria
Definition An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.
Categories Digestive system disease | Genetic disease (inborn) | Metabolic disease | Skin disease
MeSH® ID D046349
OMIM® ID 121300
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 Coproporphyria, Hereditary 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 Coproporphyria, Hereditary 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 Coproporphyria, Hereditary 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 Coproporphyria, Hereditary Has associated chemicals Has associated genes

Top ↑ Descendants

Coproporphyria, Hereditary Has associated chemicals Has associated genes
  Coproporphyria Has associated chemicals Has associated genes
  Harderoporphyria