KEGG   DISEASE: Palmoplantar keratoderma with deafness
Entry
H00716                      Disease                                
Name
Palmoplantar keratoderma with deafness
  Supergrp
Palmoplantar keratoderma [DS:H01673]
Description
Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00716  Palmoplantar keratoderma with deafness
Gene
GJB2 [HSA:2706] [KO:K07621]
Comment
Vohwinkel syndrome and Bart-Pumphrey syndrome are described in H00714 and H00706, respectively.
Other DBs
ICD-11: EC20.3
MeSH: C536152
OMIM: 148350
Reference
PMID:19939300
  Authors
Lee JR, White TW
  Title
Connexin-26 mutations in deafness and skin disease.
  Journal
Expert Rev Mol Med 11:e35 (2009)
DOI:10.1017/S1462399409001276
Reference
PMID:17428836
  Authors
Gerido DA, DeRosa AM, Richard G, White TW
  Title
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.
  Journal
Am J Physiol Cell Physiol 293:C337-45 (2007)
DOI:10.1152/ajpcell.00626.2006
Reference
PMID:17993581
  Authors
de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA
  Title
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
  Journal
J Med Genet 45:161-6 (2008)
DOI:10.1136/jmg.2007.052332
Reference
PMID:20583176
  Authors
Birkenhager R, Lublinghoff N, Prera E, Schild C, Aschendorff A, Arndt S
  Title
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
  Journal
Am J Med Genet A 152A:1798-802 (2010)
DOI:10.1002/ajmg.a.33464
Reference
PMID:20890442
  Authors
Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC
  Title
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
  Journal
J Korean Med Sci 25:1539-42 (2010)
DOI:10.3346/jkms.2010.25.10.1539

» Japanese version

  All links  
Disease (1)   
   OMIM (1)   
All databases (1)   

Download RDF
DBGET integrated database retrieval system