Preferred Label : Porokeratosis 1, multiple types;
Symbol : POROK1;
CISMeF acronym : POROK1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Porokeratosis of mibelli;
Description : Porokeratosis is a rare skin disorder characterized by one or more annular plaques
with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis
have been described that differ in morphologic shapes, distribution, and clinical
course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence
of several families with expression of more than one variant of porokeratosis among
members, and individuals expressing more than one variant, suggest that the distinctions
among these variants may be artificial. In porokeratosis of Mibelli (POROK1), lesions
range from solitary to multiple and may be linear or punctate. Onset is usually in
childhood (summary by Schamroth et al., 1997). - Genetic Heterogeneity of Porokeratosis
Other forms of porokeratosis include POROK2 (175850) on chromosome 12q;;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the phosphomevalonate kinase gene (PMVK, 607622.0001);
Prefixed ID : #175800;
Origin ID : 175800;
UMLS CUI : C0949506;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
