MCID: VHW001
MIFTS: 41

Vohwinkel Syndrome malady

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

Aliases & Classifications for Vohwinkel Syndrome

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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

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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 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.

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

UniProtKB/Swiss-Prot:70 Vohwinkel syndrome: An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.

Description from OMIM:52 124500

Related Diseases for Vohwinkel Syndrome

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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 & Phenotypes for Vohwinkel Syndrome

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Symptoms by clinical synopsis from OMIM:

124500

Clinical features from OMIM:

124500

Human phenotypes related to Vohwinkel Syndrome:

 64 54 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000407
2 abnormality of the genital system64 typical (50%) HP:0000078
3 cognitive impairment64 54 typical (50%) Frequent (79-30%) HP:0100543
4 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
5 alopecia64 54 occasional (7.5%) Occasional (29-5%) HP:0001596
6 osteolysis64 54 occasional (7.5%) Occasional (29-5%) HP:0002797
7 ichthyosis64 54 occasional (7.5%) Occasional (29-5%) HP:0008064
8 abnormality of the toenails64 54 occasional (7.5%) Occasional (29-5%) HP:0008388
9 self-injurious behavior64 54 occasional (7.5%) Occasional (29-5%) HP:0100716
10 autoamputation of digits64 54 Very frequent (99-80%) HP:0007460
11 honeycomb palmoplantar keratoderma64 54 Very frequent (99-80%) HP:0007465
12 amniotic constriction ring64 54 Very frequent (99-80%) HP:0009775
13 hypogonadotrophic hypogonadism54 Frequent (79-30%)
14 hearing impairment54 Occasional (29-5%)
15 hyperkeratosis54 Very frequent (99-80%)
16 abnormality of the nail54 Occasional (29-5%)
17 abnormality of the spinal cord54 Occasional (29-5%)
18 papule54 Occasional (29-5%)

Drugs & Therapeutics for Vohwinkel Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Vohwinkel Syndrome

Genetic Tests for Vohwinkel Syndrome

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Genetic tests related to Vohwinkel Syndrome:

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

Anatomical Context for Vohwinkel Syndrome

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MalaCards organs/tissues related to Vohwinkel Syndrome:

36
Skin, Spinal cord

Publications for Vohwinkel Syndrome

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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

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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.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

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Search GEO for disease gene expression data for Vohwinkel Syndrome.

Pathways for genes affiliated with Vohwinkel Syndrome

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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

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

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00015339.7LOR, TGM1
2connexin complexGO:00059229.6GJB2, GJB6
3gap junctionGO:00059219.1GJB2, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:00314249.9LOR, TGM1
2keratinocyte differentiationGO:00302169.9LOR, TGM1
3peptide cross-linkingGO:00181499.9LOR, TGM1
4sensory perception of soundGO:00076059.1GJB2, GJB6

Sources for Vohwinkel Syndrome

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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