- Concept UI
- M0025972
- Scope Note
- An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.
- Terms
-
Porphyria, Variegate
Preferred Term
Term UI
T051034
Date10/01/1991
LexicalTag
NON
ThesaurusID
NLM (1993)
-
Variegate Porphyria
Term UI
T551554
Date09/24/2003
LexicalTag
NON
ThesaurusID
-
Porphyria Variegate
Term UI
T752481
Date06/08/2009
LexicalTag
NON
ThesaurusID
-
Protoporphyrinogen Oxidase Deficiency
Term UI
T551555
Date09/24/2003
LexicalTag
NON
ThesaurusID
-
Porphyria Variegata
Term UI
T812055
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Porphyria, South African Type
Term UI
T001000227
Date12/05/2019
LexicalTag
NON
ThesaurusID
-
Ppox Deficiency
Term UI
T812054
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)