Preferred Label : Psoriasis 1, susceptibility to;
Symbol : PSORS1;
CISMeF acronym : PSORS1;
Type : Phenotype, molecular basis known;
Description : Psoriasis is a chronic inflammatory dermatosis that affects approximately 2% of the
population. It is characterized by red, scaly skin patches that are usually found
on the scalp, elbows, and knees, and may be associated with severe arthritis. The
lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory
cells into the dermis and epidermis. The usual age of onset of psoriasis is between
15 and 30 years, although it can present at any age (summary by Matthews et al., 1996).
Nestle et al. (2009) provided a detailed review of the pathogenesis and genetics of
psoriasis. - Genetic Heterogeneity of Psoriasis Susceptibility Several psoriasis susceptibility
loci have been mapped: PSORS1 on 6p21.3; PSORS2 (602723), conferred by variation in
the CARD14 gene (607211) on 17q; PSORS3 (601454) on 4q; PSORS4 on 1q21; PSORS5 (604316)
on 3q21; PSORS6 (605364) on 19p; PSORS7 (605606) on 1p, PSORS8 (610707) on 16q, PSORS9
(607857) on 4q31, PSORS10 (612410) on 18p11, PSORS11 (612599) on 5q31-q33, and PSORS12
(612950) on 20q13. PSORS13 (614070) is associated with the TRAF3IP2 gene (607043)
on chromosome 6q21. An additional putative psoriasis candidate locus has been reported
on 20p (Nair et al., 1997).;
Inheritance : Multifactorial;
Molecular basis : Susceptibility conferred by mutation in the major histocompatibility complex, class
I, C gene (HLA-C, 142840.0001);
Prefixed ID : #177900;
Origin ID : 177900;
UMLS CUI : C1867449;
Automatic exact mappings (from CISMeF team)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
