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

About this section

Aliases & Descriptions for Vohwinkel Syndrome:

Name: Vohwinkel Syndrome 52 48 24 25 54 70 12 50
Keratoderma Hereditarium Mutilans 48 25 54 70
Mutilating Keratoderma 48 25 70 27
Khm 48 25 70
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 52 48
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 25 70
Palmoplantar Keratoderma Mutilans Vohwinkel 25
 
Mutilating Keratoderma Plus Deafness 54
Deafness and Mutilating Keratoderma 24
Mutilating Keratoderma of Vohwinkel 54
Palmoplantar Keratoderma Mutilans 25
Ppk Mutilans and Deafness 54
Ppk Mutilans Vohwinkel 25
Vownkl 70

Characteristics:

Orphanet epidemiological data:

54
vohwinkel syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
vohwinkel syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 124500
Orphanet54 ORPHA494
UMLS via Orphanet69 C0265964
ICD10 via Orphanet31 Q82.8
MedGen37 C0265964

Summaries for Vohwinkel Syndrome

About this section
NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Vohwinkel Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways is Gap junction trafficking. Affiliated tissues include skin and spinal cord.

UniProtKB/Swiss-Prot:70 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:52 124500

Related Diseases for Vohwinkel Syndrome

About this section

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1vohwinkel syndrome with ichthyosis12.4
2dnase1-related susceptibility to systemic lupus erythematosus10.1GJB2, GJB6
3down syndrome-related congenital heart disease10.1GJB2, GJB6
4spastic ataxia, charlevoix-saguenay type10.1GJB2, GJB6
5pik3ca-related segmental overgrowth10.1GJB2, GJB6
6bietti crystalline corneoretinal dystrophy10.1GJB2, GJB6
7pink1 type of young-onset parkinson disease10.1GJB2, GJB6
8keratoderma, palmoplantar, with deafness10.1GJB2, GJB6
9lemierre's syndrome10.1GJB2, LOR
10klumpke paralysis10.1GJB2, GJB6
11troyer syndrome10.1GJB2, GJB6
12congenital herpes simplex10.0GJB2, GJB6
13molluscum contagiosum10.0GJB2, GJB6
14die smulders droog van dijk syndrome10.0GJB2, GJB6
15bartter syndrome, type 110.0GJB2, GJB6
16hypoplastic left heart syndrome 110.0GJB2, LOR
17deafness, autosomal dominant 2a10.0GJB2, GJB6
18carotid artery thrombosis10.0GJB2, LOR
19dementia, familial british10.0GJB2, GJB6
20autoimmune gastrointestinal dysmotility10.0GJB2, GJB6
21erythrocytosis due to bisphosphoglycerate mutase deficiency10.0GJB2, GJB6
22cockayne syndrome10.0GJB2, GJB6
23kid syndrome10.0
24narcissistic personality disorder10.0GJB2, GJB6
25roussy-levy syndrome10.0LOR, TGM1
26venous insufficiency10.0GJB2, GJB6
27cerebroretinal microangiopathy with calcifications and cysts10.0LOR, TGM1
28obesity susceptibility, adrb3-related10.0GJB2, GJB6
29dermatitis, atopic 210.0LOR, TGM1
30telangiectasia macularis eruptiva perstans9.9GJB2, GJB6
31x-linked nonsyndromic deafness9.9GJB2, GJB6
32richter's syndrome9.9LOR, TGM1
33ainhum9.9
34duodenum cancer9.9GJB2, GJB6
35pseudomyotonia9.9GJB2, GJB6, LOR
36erythrokeratodermia variabilis et progressiva9.9GJB2, GJB6, LOR
37steroid inherited metabolic disorder9.8GJB2, TGM1
38mitochondrial non-syndromic sensorineural deafness9.8GJB2, GJB6
39skin disease9.7
40ichthyosis9.7
41ectodermal dysplasia 2, clouston type9.6GJB2, GJB6, LOR, TGM1
42solitary bone cyst9.5GJB2, GJB6, LOR, TGM1

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



Diseases related to vohwinkel syndrome

Symptoms & Phenotypes for Vohwinkel Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

124500

Clinical features from OMIM:

124500

Human phenotypes related to Vohwinkel Syndrome:

 54 64 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism64 54 Frequent (79-30%) HP:0000044
2 cleft palate64 54 Occasional (29-5%) HP:0000175
3 hearing impairment64 54 Occasional (29-5%) HP:0000365
4 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
5 hyperkeratosis54 Very frequent (99-80%)
6 alopecia64 54 Occasional (29-5%) HP:0001596
7 abnormality of the nail54 Occasional (29-5%)
8 abnormality of the spinal cord64 54 Occasional (29-5%) HP:0002143
9 osteolysis64 54 Occasional (29-5%) HP:0002797
10 autoamputation of digits64 54 Very frequent (99-80%) HP:0007460
11 honeycomb palmoplantar keratoderma64 54 Very frequent (99-80%) HP:0007465
12 ichthyosis64 54 Occasional (29-5%) HP:0008064
13 abnormality of the toenails64 54 Occasional (29-5%) HP:0008388
14 amniotic constriction ring64 54 Very frequent (99-80%) HP:0009775
15 cognitive impairment64 54 Frequent (79-30%) HP:0100543
16 self-injurious behavior64 54 Occasional (29-5%) HP:0100716
17 papule64 54 Occasional (29-5%) HP:0200034

Drugs & Therapeutics for Vohwinkel Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Vohwinkel Syndrome

Genetic Tests for Vohwinkel Syndrome

About this section

Genetic tests related to Vohwinkel Syndrome:

id Genetic test Affiliating Genes
1 Mutilating Keratoderma27
2 Vohwinkel Syndrome24 GJB2

Anatomical Context for Vohwinkel Syndrome

About this section

MalaCards organs/tissues related to Vohwinkel Syndrome:

36
Skin, Spinal cord

Publications for Vohwinkel Syndrome

About this section

Articles related to Vohwinkel Syndrome:

(show all 19)
idTitleAuthorsYear
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

About this section

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

70
id Symbol AA change Variation ID SNP ID
1GJB2p.Asp66HisVAR_008710rs104894403
2GJB2p.Gly130ValVAR_069522

Clinvar genetic disease variations for Vohwinkel Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GJB2NM_ 004004.5(GJB2): c.35delG (p.Gly12Valfs)deletionPathogenicrs80338939GRCh37Chr 13, 20763686: 20763686
2GJB2NM_ 004004.5(GJB2): c.196G> C (p.Asp66His)SNVPathogenicrs104894403GRCh37Chr 13, 20763525: 20763525
3GJB2NM_ 004004.5(GJB2): c.193T> C (p.Tyr65His)SNVPathogenicrs886037849GRCh38Chr 13, 20189389: 20189389

Expression for genes affiliated with Vohwinkel Syndrome

About this section
Search GEO for disease gene expression data for Vohwinkel Syndrome.

Pathways for genes affiliated with Vohwinkel Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4GJB2, GJB6

GO Terms for genes affiliated with Vohwinkel Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:000592210.0GJB2, GJB6
2cornified envelopeGO:00015339.4LOR, TGM1
3gap junctionGO:00059219.4GJB2, GJB6

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1agingGO:000756810.1GJB2, GJB6
2cell communicationGO:000715410.1GJB2, GJB6
3inner ear developmentGO:004883910.1GJB2, GJB6
4response to lipopolysaccharideGO:003249610.0GJB2, GJB6
5cornificationGO:00702689.7LOR, TGM1
6keratinizationGO:00314249.7LOR, TGM1
7keratinocyte differentiationGO:00302169.7LOR, TGM1
8peptide cross-linkingGO:00181499.7LOR, TGM1
9sensory perception of soundGO:00076059.4GJB2, GJB6

Sources for Vohwinkel Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet