Palmoplantar Keratoderma I, Striate, Focal, or Diffuse (PPKS1)

External Ids:

OMIM® 57 148700 MeSH 44 D007645 ICD10 via Orphanet 33 Q82.8 Orphanet 58 ORPHA369999 ORPHA370002

MedGen 41 C1835661 C2931122 SNOMED-CT via HPO 68 161857006 263681008 312230002 364538006 415690000 415691001 52613005 706885006 75789001 87065009 more UMLS 71 C2931122

OMIM® : ⁵⁷ 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). (148700) (Updated 05-Mar-2021)

MalaCards based summary : Palmoplantar Keratoderma I, Striate, Focal, or Diffuse, also known as keratosis palmoplantaris striata i, is related to keratosis palmoplantaris striata ii. An important gene associated with Palmoplantar Keratoderma I, Striate, Focal, or Diffuse is DSG1 (Desmoglein 1). Affiliated tissues include skin, and related phenotypes are hyperhidrosis and nail dystrophy

UniProtKB/Swiss-Prot : ⁷³ Palmoplantar keratoderma 1, striate, focal, or diffuse: A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger.

Clinical features from OMIM®:

148700 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Search GEO for disease gene expression data for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse.