Preferred Label : Porphyria cutanea tarda, type I;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Pct, 'sporadic' type; Pct, type I;
Description : De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common
type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately
50% level of uroporphyrinogen decarboxylase (UROD; 613521) in liver (Elder et al.,
1978; Felsher et al., 1982), and type II, or 'familial' type (176100), characterized
by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976;
Elder et al., 1980). Type I is the most common form of PCT, comprising 70 to 80% of
cases. The causes of the deficiency are often unclear and are probably multifactorial
(review by Lambrecht et al., 2007).;
Inheritance : Autosomal dominant; heterogeneous;
Prefixed ID : 176090;
Origin ID : 176090;
UMLS CUI : C1867968;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
