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Disease Porphyria, Variegate

Name Porphyria, Variegate
Synonyms Deficiencies, Protoporphyrinogen Oxidase | Porphyria Variegata | Porphyria Variegate | Porphyria Variegates | Ppox Deficiency | Protoporphyrinogen Oxidase Deficiency | Variegate Porphyria | Variegate, Porphyria | Variegates, Porphyria
Definition An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh 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, COPROPORPHYRINS and protoporphyrinogen.
Categories Digestive system disease | Genetic disease (inborn) | Metabolic disease | Skin disease
MeSH® ID D046350
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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 Porphyria, Variegate 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 Porphyria, Variegate 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 Porphyria, Variegate 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 Porphyria, Variegate Has associated chemicals Has associated genes

Top ↑ Descendants

Porphyria, Variegate Has associated chemicals Has associated genes
  Porphyria, South African type Has associated chemicals Has associated genes