Palmoplantar keratoderma I, striate, focal, or diffuse

Preferred Label : Palmoplantar keratoderma I, striate, focal, or diffuse;

Symbol : PPKS1;

CISMeF acronym : KPPS1; PPKS1; SPPK1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratoderma, palmoplantar, striate form I; Keratosis palmoplantaris striata I; Striate palmoplantar keratoderma I; KPPS1; SPPK1;

Description : Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by Hunt et al., 2001). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported (Keren et al., 2005; Milingou et al., 2006). - Genetic Heterogeneity of Keratosis Palmoplantaris Striata Type II PPKS (PPKS2; 612908) is caused by mutation in the DSP gene (125647) on chromosome 6. Type III PPKS (PPKS3; 607654) is caused by mutation in the keratin-1 gene (KRT1; 139350) on chromosome 12q. For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gene encoding desmoglein-1 (DSG1, 125670.0001);

Prefixed ID : #148700;

Details

Origin ID

148700;

UMLS CUI

C2931122;

Automatic exact mappings (from CISMeF team)
- DSG1 wt Allele [NCIt concept]
- Striate palmoplantar keratoderma [PASCAL descriptor]
- keratosis palmoplantaris striata 1 [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Striate palmoplantar keratoderma [ORDO Disease]
Genes related to phenotype
- Desmoglein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Hypergranulosis [HPO term]
- Hyperhidrosis [HPO term]
- Nail dystrophy [HPO term]
- Onycholysis [HPO term]
- Orthokeratotic hyperkeratosis [HPO term]
- Palmoplantar blistering [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Streaks of hyperkeratosis along each finger onto the palm [HPO term]
- Yellow nails [HPO term]
ORDO concept(s)
- Diffuse palmoplantar keratoderma with painful fissures [ORDO Disease]
- Focal palmoplantar keratoderma with joint keratoses [ORDO Disease]
- Striate palmoplantar keratoderma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keratosis palmoplantaris striata 1 [MeSH concept]
- keratosis palmoplantaris striata 1 [MeSH Supplementary Concept]

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