Preferred Label : porphyria, hepatoerythropoietic;
MeSH definition : 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.;
MeSH synonym : erythrohepatic porphyrias; hepatoerythropoietic porphyrias; porphyria, erythrohepatic; porphyrias, hepatoerythropoietic; hepatoerythropoietic porphyria; erythrohepatic porphyria; porphyrias, erythrohepatic;
MeSH annotation : do not confuse with PORPHYRIAS, HEPATIC or PORPHYRIA, ERYTHROPOIETIC;
Origin ID : D017121;
UMLS CUI : C0162569;
Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Manual NTBT mappings (CISMeF)
- ORDO relation(s)
- Record concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
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.
