Mutilating keratoderma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The LOR and GJB2 genes are reported to be responsible for VS.
|
30565282 |
2019 |
Mutilating keratoderma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
|
31160754 |
2019 |
Mutilating keratoderma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.
|
24346921 |
2014 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.
|
23675785 |
2014 |
Mutilating keratoderma
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome.
|
22960825 |
2013 |
Mutilating keratoderma
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.
|
20854437 |
2011 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.
|
20854437 |
2011 |
Mutilating keratoderma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The present case and experimental evidence that connexin 26 is related to animal epileptogenesis suggest that the phenotypic spectrum of VS could be expanded to include epileptic manifestations.
|
20031451 |
2010 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Recently, a new mutation, p.G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome.
|
18688874 |
2009 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, a new mutation, p.G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome.
|
18688874 |
2009 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment, a phenotype reminiscent of Vohwinkel syndrome.
|
17993581 |
2008 |
Mutilating keratoderma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
Mutilating keratoderma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
|
18294064 |
2007 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis revealed a novel GJB2 mutation p.Gly59Ser in the patient with Vohwinkel syndrome, whereas a recurrent mutation p.Asp50Asn was found in the patient with KID syndrome.
|
17106596 |
2006 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
|
15954104 |
2005 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A whole array of cutaneous syndromes is associated with distinct dominant mutations in GJB2 encoding the gap junction protein connexin 26 (C x 26), including Vohwinkel's syndrome and keratitis-ichthyosis-deafness syndrome.
|
16197390 |
2005 |
Mutilating keratoderma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The clinical features partially overlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship.
|
15482471 |
2004 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel syndrome.
|
15140211 |
2004 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
|
12668604 |
2003 |
Mutilating keratoderma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
|
12172392 |
2002 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutilating keratoderma associated with sensorineural hearing loss is thought to have an etiologic basis, resting on a mutation of the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26).
|
11174420 |
2001 |
Mutilating keratoderma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
|
10713883 |
2000 |
Mutilating keratoderma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
|
10376574 |
1999 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We now report a Cx26 mutation in three families with mutilating keratoderma and deafness [Vohwinkel's syndrome (VS; MIM 124500), as originally described].
|
10369869 |
1999 |
Mutilating keratoderma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now report a Cx26 mutation in three families with mutilating keratoderma and deafness [Vohwinkel's syndrome (VS; MIM 124500), as originally described].
|
10369869 |
1999 |