VOWNKL
MCID: VHW001
MIFTS: 41

Vohwinkel Syndrome (VOWNKL) malady

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

Aliases & Classifications for Vohwinkel Syndrome

Aliases & Descriptions for Vohwinkel Syndrome:

Name: Vohwinkel Syndrome 54 50 24 25 56 66 13 52
Keratoderma Hereditarium Mutilans 50 25 56 66
Mutilating Keratoderma 50 25 66 29
Khm 50 25 66
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 54 50
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 25 66
Palmoplantar Keratoderma Mutilans Vohwinkel 25
Mutilating Keratoderma Plus Deafness 56
Deafness and Mutilating Keratoderma 24
Mutilating Keratoderma of Vohwinkel 56
Palmoplantar Keratoderma Mutilans 25
Ppk Mutilans and Deafness 56
Ppk Mutilans Vohwinkel 25
Vownkl 66

Characteristics:

Orphanet epidemiological data:

56
keratoderma hereditarium mutilans
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
vohwinkel syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 124500
Orphanet 56 ORPHA494
UMLS via Orphanet 70 C0265964
ICD10 via Orphanet 34 Q82.8
MedGen 40 C0265964

Summaries for Vohwinkel Syndrome

NIH Rare Diseases : 50 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 vohwinkel syndrome with ichthyosis and dnase1-related susceptibility to systemic lupus erythematosus, 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 : 66 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 : 71 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM: 124500

Related Diseases for Vohwinkel Syndrome

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

(show all 42)
id Related Disease Score Top Affiliating Genes
1 vohwinkel syndrome with ichthyosis 12.4
2 dnase1-related susceptibility to systemic lupus erythematosus 10.1 GJB2 GJB6
3 down syndrome-related congenital heart disease 10.1 GJB2 GJB6
4 spastic ataxia, charlevoix-saguenay type 10.1 GJB2 GJB6
5 pik3ca-related segmental overgrowth 10.1 GJB2 GJB6
6 bietti crystalline corneoretinal dystrophy 10.1 GJB2 GJB6
7 pink1 type of young-onset parkinson disease 10.1 GJB2 GJB6
8 keratoderma, palmoplantar, with deafness 10.1 GJB2 GJB6
9 lemierre's syndrome 10.1 GJB2 LOR
10 klumpke paralysis 10.1 GJB2 GJB6
11 troyer syndrome 10.1 GJB2 GJB6
12 congenital herpes simplex 10.0 GJB2 GJB6
13 molluscum contagiosum 10.0 GJB2 GJB6
14 die smulders droog van dijk syndrome 10.0 GJB2 GJB6
15 bartter syndrome, type 1 10.0 GJB2 GJB6
16 hypoplastic left heart syndrome 1 10.0 GJB2 LOR
17 deafness, autosomal dominant 2a 10.0 GJB2 GJB6
18 carotid artery thrombosis 10.0 GJB2 LOR
19 dementia, familial british 10.0 GJB2 GJB6
20 autoimmune gastrointestinal dysmotility 10.0 GJB2 GJB6
21 erythrocytosis due to bisphosphoglycerate mutase deficiency 10.0 GJB2 GJB6
22 cockayne syndrome 10.0 GJB2 GJB6
23 kid syndrome 10.0
24 narcissistic personality disorder 10.0 GJB2 GJB6
25 roussy-levy syndrome 10.0 LOR TGM1
26 venous insufficiency 10.0 GJB2 GJB6
27 cerebroretinal microangiopathy with calcifications and cysts 10.0 LOR TGM1
28 obesity susceptibility, adrb3-related 10.0 GJB2 GJB6
29 dermatitis, atopic 2 10.0 LOR TGM1
30 telangiectasia macularis eruptiva perstans 9.9 GJB2 GJB6
31 x-linked nonsyndromic deafness 9.9 GJB2 GJB6
32 richter's syndrome 9.9 LOR TGM1
33 ainhum 9.9
34 duodenum cancer 9.9 GJB2 GJB6
35 pseudomyotonia 9.9 GJB2 GJB6 LOR
36 erythrokeratodermia variabilis et progressiva 9.9 GJB2 GJB6 LOR
37 steroid inherited metabolic disorder 9.8 GJB2 TGM1
38 mitochondrial non-syndromic sensorineural deafness 9.8 GJB2 GJB6
39 skin disease 9.7
40 ichthyosis 9.7
41 ectodermal dysplasia 2, clouston type 9.6 GJB2 GJB6 LOR TGM1
42 solitary bone cyst 9.5 GJB2 GJB6 LOR TGM1

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



Diseases related to Vohwinkel Syndrome

Symptoms & Phenotypes for Vohwinkel Syndrome

Symptoms by clinical synopsis from OMIM:

124500

Clinical features from OMIM:

124500

Human phenotypes related to Vohwinkel Syndrome:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 self-injurious behavior 56 32 Occasional (29-5%) HP:0100716
2 hearing impairment 56 32 Occasional (29-5%) HP:0000365
3 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
4 ichthyosis 56 32 Occasional (29-5%) HP:0008064
5 cognitive impairment 56 32 Frequent (79-30%) HP:0100543
6 cleft palate 56 32 Occasional (29-5%) HP:0000175
7 hypogonadotrophic hypogonadism 56 32 Frequent (79-30%) HP:0000044
8 alopecia 56 32 Occasional (29-5%) HP:0001596
9 osteolysis 56 32 Occasional (29-5%) HP:0002797
10 papule 56 32 Occasional (29-5%) HP:0200034
11 abnormality of the toenails 56 32 Occasional (29-5%) HP:0008388
12 abnormality of the spinal cord 56 32 Occasional (29-5%) HP:0002143
13 amniotic constriction ring 56 32 Very frequent (99-80%) HP:0009775
14 autoamputation of digits 56 32 Very frequent (99-80%) HP:0007460
15 honeycomb palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0007465
16 abnormality of the nail 56 Occasional (29-5%)
17 hyperkeratosis 56 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:

id Genetic test Affiliating Genes
1 Mutilating Keratoderma 29
2 Vohwinkel Syndrome 24 GJB2

Anatomical Context for Vohwinkel Syndrome

MalaCards organs/tissues related to Vohwinkel Syndrome:

39
Skin, Spinal Cord

Publications for Vohwinkel Syndrome

Articles related to Vohwinkel Syndrome:

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

Variations for Vohwinkel Syndrome

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
2 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh37 Chromosome 13, 20763525: 20763525
3 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:

id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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