NLM Logo

Porphyria, Erythropoietic MeSH Descriptor Data 2022


MeSH Heading
Porphyria, Erythropoietic
Tree Number(s)
C16.320.850.738
C17.800.827.738
C18.452.811.250
Unique ID
D017092
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D017092
Annotation
do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC
Scope Note
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.
Entry Term(s)
Congenital Erythropoietic Porphyria
Deficiency of Uroporphyrinogen III Synthase
Erythropoietic Porphyria
Gunther Disease
Gunther's Disease
Porphyria, Congenital Erythropoietic
Porphyria, Erythropoietic, Congenital
UROS Deficiency
Uroporphyrinogen III Synthase, Deficiency of
Previous Indexing
Porphyria (1966-1992)
See Also
Uroporphyrinogen III Synthetase
Public MeSH Note
1993
History Note
1993
Date Established
1993/01/01
Date of Entry
1992/05/22
Revision Date
2015/06/05
Porphyria, Erythropoietic Preferred
Deficiency of Uroporphyrinogen III Synthase Related
page delivered in 0.184s