KEGG   DISEASE: Palmoplantar keratoderma and congenital alopecia
Entry
H02844                      Disease                                
Name
Palmoplantar keratoderma and congenital alopecia
Description
Palmoplantar keratoderma and congenital alopecia (PPKCA) is a rare autosomal dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis. It has been reported that mutations in GJA1 cause this disorder. GJA1 encodes a gap junction protein connexin 43 which is ubiquitously expressed in various organs, including the epidermis and hair follicles.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Skin disorders involving specific cutaneous structures
   Disorders of the epidermis and epidermal appendages
    Disorders of epidermal keratinisation
     ED55  Palmoplantar keratodermas
      H02844  Palmoplantar keratoderma and congenital alopecia
Gene
GJA1 [HSA:2697] [KO:K07372]
Other DBs
ICD-11: ED55
OMIM: 104100
Reference
PMID:25168385
  Authors
Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y
  Title
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
  Journal
Hum Mol Genet 24:243-50 (2015)
DOI:10.1093/hmg/ddu442
LinkDB

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