VOWNKL
MCID: VHW001
MIFTS: 41

Vohwinkel Syndrome (VOWNKL)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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 ichthyosis. 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 self-injurious behavior and hearing impairment

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

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

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 39)
# Related Disease Score Top Affiliating Genes
1 ainhum 30.2 LOR GJB2
2 ichthyosis 29.9 TGM1 LOR GJB2
3 kid syndrome 29.9 GJB6 GJB2
4 vohwinkel syndrome, variant form 12.7
5 keratoderma, palmoplantar, with deafness 11.5
6 ichthyosis, congenital, autosomal recessive 2 10.0 TGM1 LOR
7 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 10.0
8 alopecia 10.0
9 mutism 10.0
10 ichthyosis vulgaris 10.0 TGM1 LOR
11 oculodentodigital dysplasia 10.0 LOR GJB2
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
13 palmoplantar keratosis 10.0 LOR GJB2
14 autosomal recessive congenital ichthyosis 9.9 TGM1 LOR
15 deafness, autosomal dominant 24 9.9 GJB6 GJB2
16 knuckle pads 9.9 GJB6 GJB2
17 knuckle pads, leukonychia, and sensorineural deafness 9.9 GJB6 GJB2
18 deafness, x-linked 2 9.9 GJB6 GJB2
19 dfnb1 9.9 GJB6 GJB2
20 hodgkin's lymphoma, nodular sclerosis 9.9 GJB6 GJB2
21 congenital cytomegalovirus 9.9 GJB6 GJB2
22 deafness, autosomal recessive 23 9.9 GJB6 GJB2
23 deafness, autosomal recessive 1a 9.9 GJB6 GJB2
24 vestibular disease 9.9 GJB6 GJB2
25 deafness, autosomal recessive 16 9.9 GJB6 GJB2
26 deafness, autosomal dominant 2a 9.9 GJB6 GJB2
27 clouston syndrome 9.9 GJB6 GJB2
28 inner ear disease 9.8 GJB6 GJB2
29 auditory system disease 9.8 GJB6 GJB2
30 keratitis, hereditary 9.8 GJB6 GJB2
31 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 GJB6 GJB2
32 corneal disease 9.8 GJB6 GJB2
33 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 GJB6 GJB2
34 ectodermal dysplasia 9.8 GJB6 GJB2
35 nonsyndromic deafness 9.7 GJB6 GJB2
36 pseudoainhum 9.7 LOR GJB6 GJB2
37 erythrokeratodermia variabilis et progressiva 1 9.7 LOR GJB6 GJB2
38 sensorineural hearing loss 9.6 GJB6 GJB2
39 skin disease 9.5 TGM1 LOR GJB6 GJB2

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 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
2 hearing impairment 59 32 Occasional (29-5%) HP:0000365
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
5 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
6 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
7 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
8 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
9 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
10 papule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200034
11 abnormal toenail morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0008388
12 abnormality of the spinal cord 59 32 occasional (7.5%) Occasional (29-5%) HP:0002143
13 amniotic constriction ring 59 32 hallmark (90%) Very frequent (99-80%) HP:0009775
14 autoamputation of digits 59 32 hallmark (90%) Very frequent (99-80%) HP:0007460
15 honeycomb palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007465
16 abnormality of the nail 59 Occasional (29-5%)
17 hyperkeratosis 59 Very frequent (99-80%)

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 27)
# Title Authors Year
1
Vohwinkel syndrome: ichthyosiform variant in a family. ( 30156625 )
2018
2
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 28591443 )
2017
3
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. ( 29204395 )
2017
4
A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome . ( 29485809 )
2016
5
Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome. ( 26871826 )
2016
6
Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report. ( 24346921 )
2013
7
Vohwinkel syndrome with mental retardation. ( 23974601 )
2013
8
[Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet]. ( 23247752 )
2013
9
D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome. ( 22960825 )
2012
10
A new variant of Vohwinkel syndrome: a case report. ( 21426869 )
2011
11
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. ( 20854437 )
2011
12
Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. ( 20031451 )
2010
13
Vohwinkel syndrome: treatment of pseudo-ainhum. ( 20465619 )
2010
14
Keratoderma hereditarium mutilans (Vohwinkel syndrome). ( 19282408 )
2009
15
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. ( 17953701 )
2008
16
Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. ( 17459296 )
2006
17
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 15102081 )
2004
18
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
19
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. ( 12072018 )
2002
20
Keratoderma hereditarium mutilans (Vohwinkel syndrome): an unsolved surgical mystery. ( 11604631 )
2001
21
Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma. ( 11038186 )
2000
22
Surgical correction of pseudo-ainhum in Vohwinkel syndrome. ( 7561409 )
1995
23
Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies. ( 8010352 )
1994
24
Mutilating keratoderma. ( 2940194 )
1986
25
Vohwinkel Syndrome. ( 28266412 )
1977
26
Mutilating keratoderma (Vohwinkel). ( 148003 )
1976
27
Mutilating keratoderma (a case report). ( 4658291 )
1972

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 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
2 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh37 Chromosome 13, 20762956: 20762956
3 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh38 Chromosome 13, 20188817: 20188817
4 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh37 Chromosome 13, 20762929: 20762929
5 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh38 Chromosome 13, 20188790: 20188790
6 GJB2 NM_004004.5(GJB2): c.-15C> T single nucleotide variant Benign/Likely benign rs72561725 GRCh37 Chromosome 13, 20763735: 20763735
7 GJB2 NM_004004.5(GJB2): c.-15C> T single nucleotide variant Benign/Likely benign rs72561725 GRCh38 Chromosome 13, 20189596: 20189596
8 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Likely benign rs150529554 GRCh38 Chromosome 13, 20189227: 20189227
9 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Likely benign rs150529554 GRCh37 Chromosome 13, 20763366: 20763366
10 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
11 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
12 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh37 Chromosome 13, 20763601: 20763601
13 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh38 Chromosome 13, 20189462: 20189462
14 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh38 Chromosome 13, 20187695: 20187695
15 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh37 Chromosome 13, 20761834: 20761834
16 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh37 Chromosome 13, 20762926: 20762926
17 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh38 Chromosome 13, 20188787: 20188787
18 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh38 Chromosome 13, 20187704: 20187704
19 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh37 Chromosome 13, 20761843: 20761843
20 GJB2 NM_004004.5(GJB2): c.*1067G> T single nucleotide variant Benign rs9237 GRCh37 Chromosome 13, 20761973: 20761973
21 GJB2 NM_004004.5(GJB2): c.*1067G> T single nucleotide variant Benign rs9237 GRCh38 Chromosome 13, 20187834: 20187834
22 GJB2 NM_004004.5(GJB2): c.*786G> A single nucleotide variant Likely benign rs187158699 GRCh37 Chromosome 13, 20762254: 20762254
23 GJB2 NM_004004.5(GJB2): c.*786G> A single nucleotide variant Likely benign rs187158699 GRCh38 Chromosome 13, 20188115: 20188115
24 GJB2 NM_004004.5(GJB2): c.*482A> G single nucleotide variant Uncertain significance rs886050028 GRCh37 Chromosome 13, 20762558: 20762558
25 GJB2 NM_004004.5(GJB2): c.*482A> G single nucleotide variant Uncertain significance rs886050028 GRCh38 Chromosome 13, 20188419: 20188419
26 GJB2 NM_004004.5(GJB2): c.*1291_*1294delAGTA deletion Uncertain significance rs886050025 GRCh38 Chromosome 13, 20187607: 20187610
27 GJB2 NM_004004.5(GJB2): c.*1291_*1294delAGTA deletion Uncertain significance rs886050025 GRCh37 Chromosome 13, 20761746: 20761749
28 GJB2 NM_004004.5(GJB2): c.*1277T> C single nucleotide variant Benign rs7988691 GRCh38 Chromosome 13, 20187624: 20187624
29 GJB2 NM_004004.5(GJB2): c.*1277T> C single nucleotide variant Benign rs7988691 GRCh37 Chromosome 13, 20761763: 20761763
30 GJB2 NM_004004.5(GJB2): c.*979A> G single nucleotide variant Uncertain significance rs546826225 GRCh37 Chromosome 13, 20762061: 20762061
31 GJB2 NM_004004.5(GJB2): c.*979A> G single nucleotide variant Uncertain significance rs546826225 GRCh38 Chromosome 13, 20187922: 20187922
32 GJB2 NM_004004.5(GJB2): c.*931C> T single nucleotide variant Benign rs5030700 GRCh37 Chromosome 13, 20762109: 20762109
33 GJB2 NM_004004.5(GJB2): c.*931C> T single nucleotide variant Benign rs5030700 GRCh38 Chromosome 13, 20187970: 20187970
34 GJB2 NM_004004.5(GJB2): c.*598C> A single nucleotide variant Uncertain significance rs550600399 GRCh37 Chromosome 13, 20762442: 20762442
35 GJB2 NM_004004.5(GJB2): c.*598C> A single nucleotide variant Uncertain significance rs550600399 GRCh38 Chromosome 13, 20188303: 20188303
36 GJB2 NM_004004.5(GJB2): c.*412A> C single nucleotide variant Likely benign rs547859391 GRCh37 Chromosome 13, 20762628: 20762628
37 GJB2 NM_004004.5(GJB2): c.*412A> C single nucleotide variant Likely benign rs547859391 GRCh38 Chromosome 13, 20188489: 20188489
38 GJB2 NM_004004.5(GJB2): c.*168A> G single nucleotide variant Benign rs55704559 GRCh37 Chromosome 13, 20762872: 20762872
39 GJB2 NM_004004.5(GJB2): c.*168A> G single nucleotide variant Benign rs55704559 GRCh38 Chromosome 13, 20188733: 20188733
40 GJB2 NM_004004.5(GJB2): c.*104A> T single nucleotide variant Benign rs7337074 GRCh38 Chromosome 13, 20188797: 20188797
41 GJB2 NM_004004.5(GJB2): c.*104A> T single nucleotide variant Benign rs7337074 GRCh37 Chromosome 13, 20762936: 20762936
42 GJB2 NM_004004.5(GJB2): c.241C> G (p.Leu81Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145216882 GRCh38 Chromosome 13, 20189341: 20189341
43 GJB2 NM_004004.5(GJB2): c.241C> G (p.Leu81Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145216882 GRCh37 Chromosome 13, 20763480: 20763480
44 GJB2 NM_004004.5(GJB2): c.*1447G> A single nucleotide variant Benign rs11839674 GRCh37 Chromosome 13, 20761593: 20761593
45 GJB2 NM_004004.5(GJB2): c.*1447G> A single nucleotide variant Benign rs11839674 GRCh38 Chromosome 13, 20187454: 20187454
46 GJB2 NM_004004.5(GJB2): c.*423C> T single nucleotide variant Uncertain significance rs112457424 GRCh38 Chromosome 13, 20188478: 20188478
47 GJB2 NM_004004.5(GJB2): c.*423C> T single nucleotide variant Uncertain significance rs112457424 GRCh37 Chromosome 13, 20762617: 20762617
48 GJB2 NM_004004.5(GJB2): c.*544T> C single nucleotide variant Likely benign rs564755659 GRCh38 Chromosome 13, 20188357: 20188357
49 GJB2 NM_004004.5(GJB2): c.*544T> C single nucleotide variant Likely benign rs564755659 GRCh37 Chromosome 13, 20762496: 20762496
50 GJB2 NM_004004.5(GJB2): c.*800A> G single nucleotide variant Uncertain significance rs886050027 GRCh38 Chromosome 13, 20188101: 20188101

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 aging GO:0007568 9.43 GJB2 GJB6
3 response to lipopolysaccharide GO:0032496 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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38 LifeMap
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45 MESH via Orphanet
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49 NCI
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54 NINDS
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57 OMIM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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