MeSH Browser

MeSH Heading: Porphyria, Hepatoerythropoietic
Tree Number(s): C06.552.830.437; C16.320.850.742.437; C17.800.827.742.437; C18.452.811.400.437
Unique ID: D017121
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D017121
Annotation: do not confuse with PORPHYRIAS, HEPATIC or PORPHYRIA, ERYTHROPOIETIC
Scope Note: 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.
Entry Term(s): Hepatoerythropoietic Porphyria; Porphyria, Erythrohepatic
Previous Indexing: Porphyria (1966-1992)
Public MeSH Note: 2005; see PORPHYRIA, ERYTHROHEPATIC 1993-2004
History Note: 2005 (1993)
Date Established: 1993/01/01
Date of Entry: 1992/05/22
Revision Date: 2015/06/05

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

congenital (CN)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0026014
Scope Note: 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.
Terms: Porphyria, Hepatoerythropoietic Preferred Term
Term UI T551620
Date09/25/2003
LexicalTag NON
ThesaurusID; Hepatoerythropoietic Porphyria
Term UI T551621
Date09/25/2003
LexicalTag NON
ThesaurusID; Porphyria, Erythrohepatic
Term UI T051126
Date01/01/1999
LexicalTag NON
ThesaurusID NLM (1993)

Porphyria, Hepatoerythropoietic MeSH Descriptor Data 2024