MCID: VHW001
MIFTS: 47

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 50 46 23 24 52 68 12 48
Keratoderma Hereditarium Mutilans 46 24 52 68
Mutilating Keratoderma 46 24 68 25
Khm 46 24 68
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 50 46
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 24 68
Palmoplantar Keratoderma Mutilans Vohwinkel 24
 
Mutilating Keratoderma Plus Deafness 52
Deafness and Mutilating Keratoderma 23
Mutilating Keratoderma of Vohwinkel 52
Palmoplantar Keratoderma Mutilans 24
Ppk Mutilans and Deafness 52
Ppk Mutilans Vohwinkel 24
Vs 68

Characteristics:

Orphanet epidemiological data:

52
vohwinkel syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
vohwinkel syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 124500
Orphanet52 ORPHA494
UMLS via Orphanet67 C0265964
ICD10 via Orphanet29 Q82.8
MedGen35 C0265964

Summaries for Vohwinkel Syndrome

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NIH Rare Diseases:46 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 ichthyosis vulgaris and endometritis, 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:24 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

UniProtKB/Swiss-Prot:68 Vohwinkel syndrome: VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.

Wikipedia:69 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM:50 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 top 50)    (show all 1046)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis vulgaris28.8LOR, TGM1
2endometritis28.7GJB2, GJB6
3cerebral artery occlusion28.5GJB2, GJB6
4vohwinkel syndrome with ichthyosis12.4
5graft-versus-host disease, protection against10.9
6homologous wasting disease10.9
7multiple system atrophy10.4
8retinoblastoma10.3
9persistent vegetative state10.3
10kid syndrome10.1
11nonsyndromic hearing loss and deafness, mitochondrial10.1GJB2, GJB6
12hyperlipidemia type 310.1
13myocardial infarction 210.1GJB2, GJB6
14noonan syndrome with multiple lentigines10.1GJB2, GJB6
15deafness, autosomal dominant 3a10.0GJB2, GJB6
16thumb deformity, alopecia, pigmentation anomaly10.0GJB2, GJB6
17punctate palmoplantar keratoderma type 210.0GJB2, GJB6
18continuous spike-wave during slow sleep syndrome10.0GJB2, GJB6
19troyer syndrome10.0GJB2, GJB6
20ainhum10.0
21sublingual gland cancer10.0GJB2, GJB6
22nonsyndromic hearing loss and deafness, autosomal recessive10.0GJB2, GJB6
23syndactyly, type iii10.0GJB2, LOR
24hepatitis10.0
25self-healing papular mucinosis10.0GJB2, GJB6
26breast cancer10.0
27leukemia9.9
28dementia, familial british9.9GJB2, GJB6
29dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia9.9GJB2, GJB6
30obesity9.9
31dihydrolipoamide dehydrogenase deficiency9.9GJB2, GJB6
32prostatitis9.9
33hyperimmunoglobulin syndrome9.9GJB2, GJB6
34skin disease9.9
35schizophrenia9.9
36myocardial infarction9.9
37roussy-levy syndrome9.9LOR, TGM1
38pyelitis9.9GJB2, GJB6
39age-related hearing impairment 29.8
40night blindness, congenital stationary , 1b, autosomal recessive9.8
41immunodeficiency 27a, mycobacteriosis, ar9.8
42immunodeficiency 27b, mycobacteriosis, ad9.8
43age-related hearing impairment 19.8
44retinitis9.8
45cervicitis9.8
46melanoma9.8
47adenocarcinoma9.8
48prostate cancer9.8
49lymphoma9.8
50pancreatitis9.8

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



Diseases related to vohwinkel syndrome

Symptoms for Vohwinkel Syndrome

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Symptoms by clinical synopsis from OMIM:

124500

Clinical features from OMIM:

124500

Symptoms:

 52 (show all 17)
  • hypogonadotrophic hypogonadism
  • cleft palate
  • hearing impairment
  • sensorineural hearing impairment
  • hyperkeratosis
  • alopecia
  • abnormality of the nail
  • abnormality of the spinal cord
  • osteolysis
  • autoamputation of digits
  • honeycomb palmoplantar keratoderma
  • ichthyosis
  • abnormality of the toenails
  • amniotic constriction ring
  • cognitive impairment
  • self-injurious behavior
  • papule

HPO human phenotypes related to Vohwinkel Syndrome:

(show all 12)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 abnormality of the genital system typical (50%) HP:0000078
3 cognitive impairment typical (50%) HP:0100543
4 cleft palate occasional (7.5%) HP:0000175
5 alopecia occasional (7.5%) HP:0001596
6 osteolysis occasional (7.5%) HP:0002797
7 ichthyosis occasional (7.5%) HP:0008064
8 abnormality of the toenails occasional (7.5%) HP:0008388
9 self-injurious behavior occasional (7.5%) HP:0100716
10 autoamputation of digits HP:0007460
11 honeycomb palmoplantar keratoderma HP:0007465
12 amniotic constriction ring HP:0009775

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 Keratoderma25
2 Vohwinkel Syndrome23 GJB2

Anatomical Context for Vohwinkel Syndrome

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MalaCards organs/tissues related to Vohwinkel Syndrome:

34
Skin, Spinal cord

Animal Models for Vohwinkel Syndrome or affiliated genes

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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:

68
id Symbol AA change Variation ID SNP ID
1GJB2p.Asp66HisVAR_008710
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.196G> C (p.Asp66His)single nucleotide variantPathogenicrs104894403GRCh37Chr 13, 20763525: 20763525
2GJB1, TYR65HISundetermined variantPathogenic

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
9.4GJB2, GJB6
2
Show member pathways
9.4GJB2, 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
1connexin complexGO:00059229.9GJB2, GJB6
2gap junctionGO:00059219.4GJB2, GJB6
3cornified envelopeGO:00015338.9LOR, TGM1

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:00076059.4GJB2, GJB6
2keratinizationGO:00314249.4LOR, TGM1
3peptide cross-linkingGO:00181499.2LOR, TGM1
4keratinocyte differentiationGO:00302169.1LOR, TGM1

Sources for Vohwinkel Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet