Porphyria, Erythropoietic
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.
Year introduced: 1993
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Subheadings:
Tree Number(s): C16.320.850.738, C17.800.827.738, C18.452.811.250
MeSH Unique ID: D017092
Entry Terms:
- Erythropoietic Porphyrias
- Porphyrias, Erythropoietic
- Congenital Erythropoietic Porphyria
- Congenital Erythropoietic Porphyrias
- Erythropoietic Porphyria, Congenital
- Erythropoietic Porphyrias, Congenital
- Porphyrias, Congenital Erythropoietic
- Erythropoietic Porphyria
- Gunther Disease
- Gunther's Disease
- Gunthers Disease
- Porphyria, Congenital Erythropoietic
- Porphyria, Erythropoietic, Congenital
- Deficiency of Uroporphyrinogen III Synthase
- Uroporphyrinogen III Synthase, Deficiency of
- UROS Deficiency
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