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Descriptor English: Porphyria, Erythropoietic
Descriptor Spanish: Porfiria Eritropoyética
Descriptor Portuguese: Porfiria Eritropoética
Descriptor French: Porphyrie érythropoïétique
Entry term(s): 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
UROS Deficiency
Uroporphyrinogen III Synthase, Deficiency of
Tree number(s): C16.320.850.738
C17.800.827.738
C18.452.811.250
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D017092
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.
Annotation: do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Porphyria (1966-1992)
Public MeSH Note: 1993
History Note: 1993
Related: Uroporphyrinogen III Synthetase MeSH
DeCS ID: 30606
Unique ID: D017092
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1993/01/01
Date of Entry: 1992/05/22
Revision Date: 2015/06/05
Porphyria, Erythropoietic - Preferred
Concept UI M0025969
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.
Preferred term Porphyria, Erythropoietic
Entry term(s) Congenital Erythropoietic Porphyria
Congenital Erythropoietic Porphyrias
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
Deficiency of Uroporphyrinogen III Synthase - Related but not broader or narrower
Concept UI M0536364
Preferred term Deficiency of Uroporphyrinogen III Synthase
Entry term(s) UROS Deficiency
Uroporphyrinogen III Synthase, Deficiency of



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