MCID: VHW001
MIFTS: 41

Vohwinkel Syndrome 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 51 47 24 25 53 69 12 49
Keratoderma Hereditarium Mutilans 47 25 53 69
Mutilating Keratoderma 47 25 69 26
Khm 47 25 69
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 51 47
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 25 69
Palmoplantar Keratoderma Mutilans Vohwinkel 25
 
Mutilating Keratoderma Plus Deafness 53
Deafness and Mutilating Keratoderma 24
Mutilating Keratoderma of Vohwinkel 53
Palmoplantar Keratoderma Mutilans 25
Ppk Mutilans and Deafness 53
Ppk Mutilans Vohwinkel 25
Vownkl 69

Characteristics:

Orphanet epidemiological data:

53
vohwinkel syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

63
vohwinkel syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 124500
Orphanet53 ORPHA494
UMLS via Orphanet68 C0265964
ICD10 via Orphanet30 Q82.8
MedGen36 C0265964

Summaries for Vohwinkel Syndrome

About this section
NIH Rare Diseases:47 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 roussy-levy syndrome, and has symptoms including sensorineural hearing impairment, abnormality of the genital system and cognitive impairment. An important gene associated with Vohwinkel Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways are Signaling in Gap Junctions and Gap junction trafficking. Affiliated tissues include skin and spinal cord.

UniProtKB/Swiss-Prot:69 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.

Description from OMIM:51 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 33)
idRelated DiseaseScoreTop Affiliating Genes
1vohwinkel syndrome with ichthyosis12.4
2roussy-levy syndrome10.1LOR, TGM1
3ichthyosis vulgaris10.1LOR, TGM1
4kid syndrome10.0
5syndactyly, type iii10.0GJB2, LOR
6ainhum9.9
7ichthyosis, cyclic, with epidermolytic hyperkeratosis9.9LOR, TGM1
8nonsyndromic hearing loss and deafness, mitochondrial9.8GJB2, GJB6
9myocardial infarction 29.8GJB2, GJB6
10noonan syndrome with multiple lentigines9.8GJB2, GJB6
11deafness, autosomal dominant 3a9.8GJB2, GJB6
12thumb deformity, alopecia, pigmentation anomaly9.8GJB2, GJB6
13skin disease9.7
14punctate palmoplantar keratoderma type 29.7GJB2, GJB6
15continuous spike-wave during slow sleep syndrome9.7GJB2, GJB6
16troyer syndrome9.7GJB2, GJB6
17sublingual gland cancer9.7GJB2, GJB6
18nonsyndromic hearing loss and deafness, autosomal recessive9.7GJB2, GJB6
19self-healing papular mucinosis9.7GJB2, GJB6
20dementia, familial british9.7GJB2, GJB6
21dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia9.7GJB2, GJB6
22dihydrolipoamide dehydrogenase deficiency9.6GJB2, GJB6
23hyperimmunoglobulin syndrome9.6GJB2, GJB6
24pyelitis9.6GJB2, GJB6
25cerebral artery occlusion9.6GJB2, GJB6
26steroid inherited metabolic disorder9.5LOR, TGM1
27localized lichen myxedematosus with mixed features of different subtypes9.5GJB2, GJB6
28endometritis9.5GJB2, GJB6
29autosomal recessive nonsyndromic deafness9.4GJB2, GJB6
30pseudohermaphrodism anorectal anomalies9.3GJB2, GJB6, LOR
31erythrokeratodermia variabilis et progressiva9.3GJB2, GJB6, LOR
32small non-cleaved cell lymphoma9.3GJB2, GJB6, LOR
33ectodermal dysplasia 2, clouston type8.9GJB2, GJB6, LOR, TGM1

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



Diseases related to vohwinkel syndrome

Symptoms for Vohwinkel Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

124500

Clinical features from OMIM:

124500

Human phenotypes related to Vohwinkel Syndrome:

 63 53 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
2 abnormality of the genital system63 typical (50%) HP:0000078
3 cognitive impairment63 53 typical (50%) Frequent (79-30%) HP:0100543
4 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
5 alopecia63 53 occasional (7.5%) Occasional (29-5%) HP:0001596
6 osteolysis63 53 occasional (7.5%) Occasional (29-5%) HP:0002797
7 ichthyosis63 53 occasional (7.5%) Occasional (29-5%) HP:0008064
8 abnormality of the toenails63 53 occasional (7.5%) Occasional (29-5%) HP:0008388
9 self-injurious behavior63 53 occasional (7.5%) Occasional (29-5%) HP:0100716
10 autoamputation of digits63 53 Very frequent (99-80%) HP:0007460
11 honeycomb palmoplantar keratoderma63 53 Very frequent (99-80%) HP:0007465
12 amniotic constriction ring63 53 Very frequent (99-80%) HP:0009775
13 hypogonadotrophic hypogonadism53 Frequent (79-30%)
14 hearing impairment53 Occasional (29-5%)
15 hyperkeratosis53 Very frequent (99-80%)
16 abnormality of the nail53 Occasional (29-5%)
17 abnormality of the spinal cord53 Occasional (29-5%)
18 papule53 Occasional (29-5%)

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 Keratoderma26
2 Vohwinkel Syndrome24 GJB2

Anatomical Context for Vohwinkel Syndrome

About this section

MalaCards organs/tissues related to Vohwinkel Syndrome:

35
Skin, Spinal cord

Animal Models for Vohwinkel Syndrome or affiliated genes

About this section

Publications for Vohwinkel Syndrome

About this section

Articles related to Vohwinkel Syndrome:

(show all 18)
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

Variations for Vohwinkel Syndrome

About this section

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

69
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.101T> C (p.Met34Thr)SNVLikely pathogenic, Pathogenicrs35887622GRCh37Chr 13, 20763620: 20763620
2GJB2NM_004004.5(GJB2): c.167delT (p.Leu56Argfs)deletionPathogenicrs80338942GRCh37Chr 13, 20763554: 20763554
3GJB2NM_004004.5(GJB2): c.196G> C (p.Asp66His)SNVPathogenicrs104894403GRCh37Chr 13, 20763525: 20763525
4GJB2NM_004004.5(GJB2): c.355G> A (p.Glu119Lys)SNVLikely pathogenicrs150529554GRCh38Chr 13, 20189227: 20189227
5GJB2NM_004004.5(GJB2): c.339T> G (p.Ser113Arg)SNVLikely pathogenic, Pathogenicrs80338946GRCh37Chr 13, 20763382: 20763382
6GJB2NM_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
9.1GJB2, GJB6
2
Show member pathways
9.1GJB2, 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:00059229.6GJB2, GJB6
2cornified envelopeGO:00015339.2LOR, TGM1
3gap junctionGO:00059219.1GJB2, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:00314249.6LOR, TGM1
2peptide cross-linkingGO:00181499.5LOR, TGM1
3keratinocyte differentiationGO:00302169.4LOR, TGM1
4sensory perception of soundGO:00076059.1GJB2, GJB6

Sources for Vohwinkel Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet