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Disease Porphyria, Hepatoerythropoietic

Name Porphyria, Hepatoerythropoietic
Synonyms Erythrohepatic Porphyria | Erythrohepatic Porphyrias | Hepatoerythropoietic Porphyria | Hepatoerythropoietic Porphyrias | Porphyria, Erythrohepatic | Porphyrias, Erythrohepatic | Porphyrias, Hepatoerythropoietic
Definition An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
Categories Digestive system disease | Genetic disease (inborn) | Metabolic disease | Skin disease
MeSH® ID D017121
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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, Hepatoerythropoietic
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, Hepatoerythropoietic
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, Hepatoerythropoietic
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, Hepatoerythropoietic

Top ↑ Descendants

None.