Palmoplantar Keratoderma, Nonepidermolytic malady
Categories: Genetic diseases, Rare diseases, Skin diseases
Aliases & Descriptions for Palmoplantar Keratoderma, Nonepidermolytic:
palmoplantar keratoderma, nonepidermolytic:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
NIH Rare Diseases:46 Tylosis is a rare genetic disorder characterized by hyperkeratosis of the palms of the hands and soles of the feet. hyperkeratosis is an overgrowth of the outer skin layer (epidermis). the hyperkeratosis may be limited to pressure-bearing areas or cover the entire surface of the palms and soles. the degree and pattern of involvement can vary between the hands and feet of the same individual, within families, and among families. tylosis is inherited in an autosomal dominant pattern. two types of tylosis have been described, a late onset form and an early onset form. late onset tylosis (type a) occurs between the ages of 5 and 15 and is reported to be associated with a high incidence of esophageal cancer. early onset tylosis (type b) occurs in the first year of life and appears to be a benign disorder. distinguishing between the two is important for management and prognosis. last updated: 4/26/2016
MalaCards based summary: Palmoplantar Keratoderma, Nonepidermolytic, also known as nonepidermolytic palmoplantar keratoderma, is related to palmoplantar keratoderma, epidermolytic and palmoplantar keratoderma, nonepidermolytic, focal or diffuse, and has symptoms including nonepidermolytic palmoplantar keratoderma An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic is KRT1 (Keratin 1), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include palms, soles and skin, and related mouse phenotype integument.
Disease Ontology:11 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located in palms and located in soles.
UniProtKB/Swiss-Prot:68 Keratoderma, palmoplantar, non-epidermolytic: A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists.
Description from OMIM:50 600962
Drugs for Palmoplantar Keratoderma, Nonepidermolytic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic
Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic:
MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:34
FMA organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:17
UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:68
Clinvar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:5
Search GEO for disease gene expression data for Palmoplantar Keratoderma, Nonepidermolytic.
Cellular components related to Palmoplantar Keratoderma, Nonepidermolytic according to GeneCards Suite gene sharing:
Biological processes related to Palmoplantar Keratoderma, Nonepidermolytic according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Palmoplantar Keratoderma, Nonepidermolytic according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet