MCID: VHW001
MIFTS: 41

Vohwinkel Syndrome

Categories: Genetic diseases, Rare diseases, Ear diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Vohwinkel Syndrome

MalaCards integrated aliases for Vohwinkel Syndrome:

Name: Vohwinkel Syndrome 53 49 24 55 71 36 13 51
Keratoderma Hereditarium Mutilans 53 49 24 55 71
Mutilating Keratoderma 53 49 24 71 28
Khm 53 49 24 71
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 53 49
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 24 71
Vownkl 53 71
Palmoplantar Keratoderma Mutilans Vohwinkel 24
Keratoderma Hereditarium Mutilans; Khm 53
Mutilating Keratoderma Plus Deafness 55
Mutilating Keratoderma of Vohwinkel 55
Palmoplantar Keratoderma Mutilans 24
Ppk Mutilans and Deafness 55
Ppk Mutilans Vohwinkel 24

Characteristics:

Orphanet epidemiological data:

55
keratoderma hereditarium mutilans
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , keratoderma, palmoplantar, with deafness, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,


HPO:

31
vohwinkel syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vohwinkel Syndrome

NIH Rare Diseases : 49 Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner. Although there is currently no cure for the condition, treatments are available to alleviate symptoms. Last updated: 12/18/2015

MalaCards based summary : Vohwinkel Syndrome, also known as keratoderma hereditarium mutilans, is related to ainhum and kid syndrome, and has symptoms including self-injurious behavior, hearing impairment and sensorineural hearing impairment. An important gene associated with Vohwinkel Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include skin and spinal cord.

UniProtKB/Swiss-Prot : 71 Vohwinkel syndrome: An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.

Genetics Home Reference : 24 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

Wikipedia : 72 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM: 124500

Related Diseases for Vohwinkel Syndrome

Diseases in the Vohwinkel Syndrome family:

Vohwinkel Syndrome, Variant Form

Diseases related to Vohwinkel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 ainhum 30.0 GJB2 LOR
2 kid syndrome 29.8 GJB2 GJB6
3 ichthyosis 29.4 GJB2 LOR TGM1
4 skin disease 28.3 GJB2 GJB6 LOR TGM1
5 vohwinkel syndrome, variant form 12.5
6 branchiootic syndrome 1 10.1
7 ichthyosis, congenital, autosomal recessive 2 10.1 LOR TGM1
8 ichthyosis vulgaris 10.0 LOR TGM1
9 oculodentodigital dysplasia 10.0 GJB2 LOR
10 palmoplantar keratosis 9.9 GJB2 LOR
11 deafness, autosomal recessive 1b 9.8 GJB2 GJB6
12 congenital ichthyosiform erythroderma 9.8 LOR TGM1
13 deafness, autosomal dominant 24 9.8 GJB2 GJB6
14 deafness, x-linked 2 9.8 GJB2 GJB6
15 knuckle pads, leukonychia, and sensorineural deafness 9.8 GJB2 GJB6
16 deafness, autosomal recessive 1a 9.8 GJB2 GJB6
17 congenital cytomegalovirus 9.8 GJB2 GJB6
18 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB6
19 dfnb1 9.8 GJB2 GJB6
20 knuckle pads 9.8 GJB2 GJB6
21 non-syndromic genetic deafness 9.8 GJB2 GJB6
22 vestibular disease 9.7 GJB2 GJB6
23 deafness, autosomal recessive 16 9.7 GJB2 GJB6
24 deafness, autosomal dominant 2a 9.7 GJB2 GJB6
25 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 GJB2 GJB6
26 clouston syndrome 9.7 GJB2 GJB6
27 deafness, autosomal recessive 12 9.7 GJB2 GJB6
28 inner ear disease 9.7 GJB2 GJB6
29 keratitis, hereditary 9.7 GJB2 GJB6
30 auditory system disease 9.6 GJB2 GJB6
31 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 GJB6
32 corneal disease 9.6 GJB2 GJB6
33 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 GJB6
34 sensorineural hearing loss 9.4 GJB2 GJB6
35 pseudoainhum 9.4 GJB2 GJB6 LOR
36 erythrokeratodermia variabilis et progressiva 1 9.4 GJB2 GJB6 LOR
37 nonsyndromic deafness 9.3 GJB2 GJB6

Graphical network of the top 20 diseases related to Vohwinkel Syndrome:



Diseases related to Vohwinkel Syndrome

Symptoms & Phenotypes for Vohwinkel Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
autoamputation of digits
papular keratoderma, mild
honeycomb keratoderma
starfish-like acral keratoses (knuckles)
pseudoainhum

Skeletal Hands:
circular constrictions of digits (pseudoainhum)
autoamputation

Head And Neck Ears:
hearing loss, mild to moderate


Clinical features from OMIM:

124500

Human phenotypes related to Vohwinkel Syndrome:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 self-injurious behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0100716
2 hearing impairment 55 31 Occasional (29-5%) HP:0000365
3 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 ichthyosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008064
5 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543
6 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
7 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
8 hypogonadotrophic hypogonadism 55 31 frequent (33%) Frequent (79-30%) HP:0000044
9 osteolysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002797
10 papule 55 31 occasional (7.5%) Occasional (29-5%) HP:0200034
11 abnormality of the spinal cord 55 31 occasional (7.5%) Occasional (29-5%) HP:0002143
12 amniotic constriction ring 55 31 hallmark (90%) Very frequent (99-80%) HP:0009775
13 autoamputation of digits 55 31 hallmark (90%) Very frequent (99-80%) HP:0007460
14 honeycomb palmoplantar keratoderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0007465
15 abnormality of the nail 55 Occasional (29-5%)
16 hyperkeratosis 55 Very frequent (99-80%)
17 abnormality of the toenails 55 Occasional (29-5%)
18 abnormal toenail morphology 31 occasional (7.5%) HP:0008388

Drugs & Therapeutics for Vohwinkel Syndrome

Search Clinical Trials , NIH Clinical Center for Vohwinkel Syndrome

Genetic Tests for Vohwinkel Syndrome

Genetic tests related to Vohwinkel Syndrome:

# Genetic test Affiliating Genes
1 Mutilating Keratoderma 28 GJB2

Anatomical Context for Vohwinkel Syndrome

MalaCards organs/tissues related to Vohwinkel Syndrome:

38
Skin, Spinal Cord

Publications for Vohwinkel Syndrome

Articles related to Vohwinkel Syndrome:

(show all 20)
# Title Authors Year
1
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 28591443 )
2017
2
Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome. ( 26871826 )
2016
3
Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report. ( 24346921 )
2013
4
Vohwinkel syndrome with mental retardation. ( 23974601 )
2013
5
D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome. ( 22960825 )
2012
6
A new variant of Vohwinkel syndrome: a case report. ( 21426869 )
2011
7
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. ( 20854437 )
2011
8
Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. ( 20031451 )
2010
9
Vohwinkel syndrome: treatment of pseudo-ainhum. ( 20465619 )
2010
10
Keratoderma hereditarium mutilans (Vohwinkel syndrome). ( 19282408 )
2009
11
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. ( 17953701 )
2008
12
Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. ( 17459296 )
2006
13
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 15102081 )
2004
14
Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. ( 12837696 )
2003
15
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. ( 12072018 )
2002
16
Keratoderma hereditarium mutilans (Vohwinkel syndrome): an unsolved surgical mystery. ( 11604631 )
2001
17
Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma. ( 11038186 )
2000
18
Surgical correction of pseudo-ainhum in Vohwinkel syndrome. ( 7561409 )
1995
19
Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies. ( 8010352 )
1994
20
Vohwinkel Syndrome. ( 28266412 )
1977

Variations for Vohwinkel Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Vohwinkel Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Asp66His VAR_008710 rs104894403
2 GJB2 p.Gly130Val VAR_069522

ClinVar genetic disease variations for Vohwinkel Syndrome:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
2 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
3 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
4 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
5 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh37 Chromosome 13, 20763525: 20763525
6 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
7 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
8 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
9 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
10 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
11 GJB2 NM_004004.5(GJB2): c.193T> C (p.Tyr65His) single nucleotide variant Pathogenic rs886037849 GRCh38 Chromosome 13, 20189389: 20189389

Expression for Vohwinkel Syndrome

Search GEO for disease gene expression data for Vohwinkel Syndrome.

Pathways for Vohwinkel Syndrome

Pathways related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 GJB2 GJB6

GO Terms for Vohwinkel Syndrome

Cellular components related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.16 LOR TGM1
2 gap junction GO:0005921 8.96 GJB2 GJB6
3 connexin complex GO:0005922 8.62 GJB2 GJB6

Biological processes related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.46 LOR TGM1
2 response to lipopolysaccharide GO:0032496 9.43 GJB2 GJB6
3 aging GO:0007568 9.4 GJB2 GJB6
4 sensory perception of sound GO:0007605 9.37 GJB2 GJB6
5 cornification GO:0070268 9.32 LOR TGM1
6 keratinocyte differentiation GO:0030216 9.26 LOR TGM1
7 inner ear development GO:0048839 9.16 GJB2 GJB6
8 peptide cross-linking GO:0018149 8.96 LOR TGM1
9 cell communication GO:0007154 8.62 GJB2 GJB6

Sources for Vohwinkel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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