VOWNKL
MCID: VHW001
MIFTS: 41

Vohwinkel Syndrome (VOWNKL)

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 57 53 25 59 75 37 13 55
Mutilating Keratoderma 57 53 25 75 29 6 40
Keratoderma Hereditarium Mutilans 57 53 25 59 75
Khm 57 53 25 75
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 57 53
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 25 75
Vownkl 57 75
Palmoplantar Keratoderma Mutilans Vohwinkel 25
Keratoderma Hereditarium Mutilans; Khm 57
Mutilating Keratoderma Plus Deafness 59
Mutilating Keratoderma of Vohwinkel 59
Palmoplantar Keratoderma Mutilans 25
Ppk Mutilans and Deafness 59
Ppk Mutilans Vohwinkel 25

Characteristics:

Orphanet epidemiological data:

59
keratoderma hereditarium mutilans
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
vohwinkel syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vohwinkel Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Vohwinkel Syndrome, also known as mutilating keratoderma, is related to ainhum and kid syndrome. 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, and related phenotypes are hypogonadotrophic hypogonadism and cleft palate

UniProtKB/Swiss-Prot : 75 Vohwinkel syndrome: An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.

Genetics Home Reference : 25 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

Wikipedia : 76 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 35)
# Related Disease Score Top Affiliating Genes
1 ainhum 30.0 GJB2 LOR
2 kid syndrome 29.6 GJB2 GJB6
3 ichthyosis 29.1 GJB2 LOR TGM1
4 skin disease 27.4 GJB2 GJB6 LOR TGM1
5 vohwinkel syndrome, variant form 12.5
6 ichthyosis, congenital, autosomal recessive 2 10.1 LOR TGM1
7 ichthyosis vulgaris 10.1 LOR TGM1
8 oculodentodigital dysplasia 10.0 GJB2 LOR
9 palmoplantar keratosis 9.9 GJB2 LOR
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
11 congenital ichthyosiform erythroderma 9.7 LOR TGM1
12 deafness, autosomal dominant 24 9.7 GJB2 GJB6
13 congenital cytomegalovirus 9.7 GJB2 GJB6
14 knuckle pads, leukonychia, and sensorineural deafness 9.7 GJB2 GJB6
15 deafness, x-linked 2 9.7 GJB2 GJB6
16 hodgkin's lymphoma, nodular sclerosis 9.7 GJB2 GJB6
17 dfnb1 9.6 GJB2 GJB6
18 deafness, autosomal recessive 1a 9.6 GJB2 GJB6
19 deafness, autosomal recessive 23 9.6 GJB2 GJB6
20 knuckle pads 9.6 GJB2 GJB6
21 vestibular disease 9.6 GJB2 GJB6
22 deafness, autosomal dominant 2a 9.6 GJB2 GJB6
23 deafness, autosomal recessive 16 9.6 GJB2 GJB6
24 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 GJB2 GJB6
25 clouston syndrome 9.5 GJB2 GJB6
26 inner ear disease 9.5 GJB2 GJB6
27 auditory system disease 9.5 GJB2 GJB6
28 keratitis, hereditary 9.4 GJB2 GJB6
29 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 GJB2 GJB6
30 corneal disease 9.4 GJB2 GJB6
31 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.3 GJB2 GJB6
32 sensorineural hearing loss 9.1 GJB2 GJB6
33 pseudoainhum 9.1 GJB2 GJB6 LOR
34 erythrokeratodermia variabilis et progressiva 1 9.1 GJB2 GJB6 LOR
35 nonsyndromic deafness 8.9 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:

57
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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
2 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 hearing impairment 59 32 Occasional (29-5%) HP:0000365
4 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
5 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
6 abnormality of the spinal cord 59 32 occasional (7.5%) Occasional (29-5%) HP:0002143
7 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
8 autoamputation of digits 59 32 hallmark (90%) Very frequent (99-80%) HP:0007460
9 honeycomb palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007465
10 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
11 amniotic constriction ring 59 32 hallmark (90%) Very frequent (99-80%) HP:0009775
12 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
13 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
14 papule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200034
15 hyperkeratosis 59 Very frequent (99-80%)
16 abnormality of the nail 59 Occasional (29-5%)
17 abnormality of the toenails 59 Occasional (29-5%)
18 abnormal toenail morphology 32 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 29 GJB2

Anatomical Context for Vohwinkel Syndrome

MalaCards organs/tissues related to Vohwinkel Syndrome:

41
Skin, Spinal Cord

Publications for Vohwinkel Syndrome

Articles related to Vohwinkel Syndrome:

(show all 22)
# Title Authors Year
1
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 28591443 )
2017
2
A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome . ( 29485809 )
2016
3
Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome. ( 26871826 )
2016
4
Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report. ( 24346921 )
2013
5
Vohwinkel syndrome with mental retardation. ( 23974601 )
2013
6
[Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet]. ( 23247752 )
2013
7
D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome. ( 22960825 )
2012
8
A new variant of Vohwinkel syndrome: a case report. ( 21426869 )
2011
9
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. ( 20854437 )
2011
10
Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. ( 20031451 )
2010
11
Vohwinkel syndrome: treatment of pseudo-ainhum. ( 20465619 )
2010
12
Keratoderma hereditarium mutilans (Vohwinkel syndrome). ( 19282408 )
2009
13
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. ( 17953701 )
2008
14
Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. ( 17459296 )
2006
15
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 15102081 )
2004
16
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
17
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. ( 12072018 )
2002
18
Keratoderma hereditarium mutilans (Vohwinkel syndrome): an unsolved surgical mystery. ( 11604631 )
2001
19
Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma. ( 11038186 )
2000
20
Surgical correction of pseudo-ainhum in Vohwinkel syndrome. ( 7561409 )
1995
21
Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies. ( 8010352 )
1994
22
Vohwinkel Syndrome. ( 28266412 )
1977

Variations for Vohwinkel Syndrome

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

75
# 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 top 50) (show all 70)
# 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.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
3 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
4 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
5 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
6 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
7 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
8 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
9 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh37 Chromosome 13, 20763525: 20763525
10 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh38 Chromosome 13, 20189386: 20189386
11 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
12 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
13 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
14 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh38 Chromosome 13, 20189299: 20189299
15 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
16 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh38 Chromosome 13, 20189166: 20189166
17 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
18 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh38 Chromosome 13, 20188965: 20188965
19 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Likely benign rs150529554 GRCh38 Chromosome 13, 20189227: 20189227
20 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Likely benign rs150529554 GRCh37 Chromosome 13, 20763366: 20763366
21 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
22 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
23 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh37 Chromosome 13, 20763601: 20763601
24 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh38 Chromosome 13, 20189462: 20189462
25 GJB2 NM_004004.5(GJB2): c.193T> C (p.Tyr65His) single nucleotide variant Pathogenic rs886037849 GRCh38 Chromosome 13, 20189389: 20189389
26 GJB2 NM_004004.5(GJB2): c.193T> C (p.Tyr65His) single nucleotide variant Pathogenic rs886037849 GRCh37 Chromosome 13, 20763528: 20763528
27 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh38 Chromosome 13, 20187695: 20187695
28 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh37 Chromosome 13, 20761834: 20761834
29 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh37 Chromosome 13, 20762926: 20762926
30 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh38 Chromosome 13, 20188787: 20188787
31 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh37 Chromosome 13, 20761843: 20761843
32 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh38 Chromosome 13, 20187704: 20187704
33 GJB2 NM_004004.5(GJB2): c.*1152G> A single nucleotide variant Benign rs7623 GRCh38 Chromosome 13, 20187749: 20187749
34 GJB2 NM_004004.5(GJB2): c.*1152G> A single nucleotide variant Benign rs7623 GRCh37 Chromosome 13, 20761888: 20761888
35 GJB2 NM_004004.5(GJB2): c.*1033G> A single nucleotide variant Likely benign rs185790172 GRCh37 Chromosome 13, 20762007: 20762007
36 GJB2 NM_004004.5(GJB2): c.*1033G> A single nucleotide variant Likely benign rs185790172 GRCh38 Chromosome 13, 20187868: 20187868
37 GJB2 NM_004004.5(GJB2): c.*1016A> G single nucleotide variant Likely benign rs537683957 GRCh37 Chromosome 13, 20762024: 20762024
38 GJB2 NM_004004.5(GJB2): c.*1016A> G single nucleotide variant Likely benign rs537683957 GRCh38 Chromosome 13, 20187885: 20187885
39 GJB2 NM_004004.5(GJB2): c.*800A> G single nucleotide variant Uncertain significance rs886050027 GRCh37 Chromosome 13, 20762240: 20762240
40 GJB2 NM_004004.5(GJB2): c.*800A> G single nucleotide variant Uncertain significance rs886050027 GRCh38 Chromosome 13, 20188101: 20188101
41 GJB2 NM_004004.5(GJB2): c.*544T> C single nucleotide variant Likely benign rs564755659 GRCh37 Chromosome 13, 20762496: 20762496
42 GJB2 NM_004004.5(GJB2): c.*544T> C single nucleotide variant Likely benign rs564755659 GRCh38 Chromosome 13, 20188357: 20188357
43 GJB2 NM_004004.5(GJB2): c.*423C> T single nucleotide variant Uncertain significance rs112457424 GRCh37 Chromosome 13, 20762617: 20762617
44 GJB2 NM_004004.5(GJB2): c.*423C> T single nucleotide variant Uncertain significance rs112457424 GRCh38 Chromosome 13, 20188478: 20188478
45 GJB2 NM_004004.5(GJB2): c.*1067G> T single nucleotide variant Benign rs9237 GRCh37 Chromosome 13, 20761973: 20761973
46 GJB2 NM_004004.5(GJB2): c.*1067G> T single nucleotide variant Benign rs9237 GRCh38 Chromosome 13, 20187834: 20187834
47 GJB2 NM_004004.5(GJB2): c.*786G> A single nucleotide variant Likely benign rs187158699 GRCh37 Chromosome 13, 20762254: 20762254
48 GJB2 NM_004004.5(GJB2): c.*786G> A single nucleotide variant Likely benign rs187158699 GRCh38 Chromosome 13, 20188115: 20188115
49 GJB2 NM_004004.5(GJB2): c.*482A> G single nucleotide variant Uncertain significance rs886050028 GRCh37 Chromosome 13, 20762558: 20762558
50 GJB2 NM_004004.5(GJB2): c.*482A> G single nucleotide variant Uncertain significance rs886050028 GRCh38 Chromosome 13, 20188419: 20188419

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

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11 DGIdb
17 ExPASy
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