Skip navigation

Disease Porphyria, Erythropoietic

Name Porphyria, Erythropoietic
Synonyms CEP | Congenital Erythropoietic Porphyria | Congenital Erythropoietic Porphyrias | Deficiency of Uroporphyrinogen III Synthase | Erythropoietic Porphyria | Erythropoietic Porphyria, Congenital | Erythropoietic Porphyrias | Erythropoietic Porphyrias, Congenital | Gunther Disease | Gunther's Disease | Gunthers Disease | Porphyria, Congenital Erythropoietic | Porphyria, Erythropoietic, Congenital | Porphyrias, Congenital Erythropoietic | Porphyrias, Erythropoietic | UROPORPHYRINOGEN III SYNTHASE DEFICIENCY | Uroporphyrinogen III Synthase, Deficiency of | UROS Deficiency
Definition An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
Categories Genetic disease (inborn) | Metabolic disease | Skin disease
MeSH® ID D017092
OMIM® ID 263700
External Links

Top ↑ Ancestors

1. 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 Porphyria, Erythropoietic Has associated chemicals Has associated genes
2. 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 Porphyria, Erythropoietic Has associated chemicals Has associated genes
3. 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 Porphyria, Erythropoietic Has associated chemicals Has associated genes

Top ↑ Descendants

None.