KEGG   DISEASE: Vohwinkel syndrome
Entry
H00714                      Disease                                
Name
Vohwinkel syndrome
  Subgroup
Vohwinkel syndrome, variant form
Description
Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is the constriction bands of the digits, leading to autoamputation (pseudoainhum). Vohwinkel syndrome is caused by GJB2 mutations, and its variant that is linked to loricrin also has a feature of ichthyosis.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic or developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00714  Vohwinkel syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular processes
  nt06545  Cornified envelope formation
   H00714  Vohwinkel syndrome
Pathway
hsa04382 Cornified envelope formation   
Network
nt06545 Cornified envelope formation
Gene
GJB2 [HSA:2706] [KO:K07621]
(variant form) LORICRIN [HSA:4014] [KO:K10385]
Other DBs
ICD-11: EC20.30
MeSH: C536457 C565826
OMIM: 124500 604117
Reference
PMID:19939300 (GJB2)
  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:10369869 (GJB2)
  Authors
Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS
  Title
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
  Journal
Hum Mol Genet 8:1237-43 (1999)
DOI:10.1093/hmg/8.7.1237
Reference
PMID:9326398 (Loricrin)
  Authors
Korge BP, Ishida-Yamamoto A, Punter C, Dopping-Hepenstal PJ, Iizuka H, Stephenson A, Eady RA, Munro CS
  Title
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.
  Journal
J Invest Dermatol 109:604-10 (1997)
DOI:10.1111/1523-1747.ep12337534
Reference
PMID:12615358 (Loricrin)
  Authors
Ishida-Yamamoto A
  Title
Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.
  Journal
J Dermatol Sci 31:3-8 (2003)
DOI:10.1016/S0923-1811(02)00143-3
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