PPKS1
MCID: PLM160
MIFTS: 27
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Palmoplantar Keratoderma I, Striate, Focal, or Diffuse (PPKS1)
Categories:
Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:
Characteristics:Orphanet epidemiological data:58
focal palmoplantar keratoderma with joint keratoses
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
diffuse palmoplantar keratoderma with painful fissures
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; HPO:31Classifications:
ICD10:
33
Orphanet: 58
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OMIM :
56
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)
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. |
Diseases related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:31 (show all 7)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:148700 |
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MalaCards organs/tissues related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:40
Skin
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Articles related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:(show all 11)
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ClinVar genetic disease variations for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:6
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Search
GEO
for disease gene expression data for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse.
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