MCID: VHW001
MIFTS: 50

Vohwinkel Syndrome malady

Genetic diseases, Rare diseases, Ear diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Vohwinkel Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Vohwinkel Syndrome:

Name: Vohwinkel Syndrome 49 11 45 22 23 47 51 67
Keratoderma Hereditarium Mutilans 45 23 51 67
Mutilating Keratoderma 45 23 24 67
Khm 45 23 67
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 23 67
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 45
Palmoplantar Keratoderma Mutilans Vohwinkel 23
 
Mutilating Keratoderma Plus Deafness 51
Deafness and Mutilating Keratoderma 22
Mutilating Keratoderma of Vohwinkel 51
Palmoplantar Keratoderma Mutilans 23
Ppk Mutilans and Deafness 51
Ppk Mutilans Vohwinkel 23
Vs 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
vohwinkel syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 124500
Orphanet51 494
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C0265964
MedGen34 C0265964

Summaries for Vohwinkel Syndrome

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UniProtKB/Swiss-Prot:67 Vohwinkel syndrome: VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.

MalaCards based summary: Vohwinkel Syndrome, also known as keratoderma hereditarium mutilans, is related to nose disease and autism spectrum disorder, 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, 26kDa), and among its related pathways are Signaling in Gap Junctions and Gap junction trafficking. Affiliated tissues include skin and bone, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:23 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

Wikipedia:68 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM:49 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 2975)
idRelated DiseaseScoreTop Affiliating Genes
1nose disease30.5GJB2, GJB6
2autism spectrum disorder29.7GJB2, GJB6
3ichthyosis vulgaris29.6LOR, TGM1
4oculodentodigital dysplasia29.6GJB2, LOR
5acoustic neuroma29.6GJB2, GJB6
6intermediate uveitis29.6GJB2, GJB6
7malouf syndrome29.3LOR, TGM1
8arrhythmogenic right ventricular cardiomyopathy29.2GJB2, GJB6
9small intestine lymphoma28.7GJB2, GJB6, LOR, TGM1
10pain disorder10.7
11vohwinkel syndrome with ichthyosis10.7
12breast cancer10.7
13greenberg skeletal dysplasia10.7
14peripheral vascular disease10.7
15congenital heart disease10.7
16hepatocellular carcinoma10.6
17coronary heart disease 410.6
18diabetes mellitus, noninsulin-dependent10.6
19gastrointestinal system disease10.6
20vein disease10.6
21gastrointestinal system cancer10.6
22coronary artery disease10.6
23li-fraumeni syndrome10.6
24breast disease10.6
25artery disease10.6
26respiratory system disease10.6
27autonomic nervous system disease10.6
28asthma10.6
29diabetes mellitus, insulin-dependent10.6
30nervous system cancer10.6
31arthritis10.6
32intestinal disease10.6
33nutritional deficiency disease10.6
34skin tag10.6
35coronary heart disease 310.6
36stomach disease10.6
37urinary system disease10.6
38coronary heart disease 210.6
39hepatitis10.6
40mody, type ii10.6
41diabetes mellitus, noninsulin-dependent, 210.6
42eye disease10.6
43secondary syphilis10.6
44myocardial infarction10.6
45ischemic heart disease10.6
46leukemia10.6
47adenocarcinoma10.6
48arthropathy10.6
49peripheral nervous system disease10.6
50joint disorders10.6

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:

 51 (show all 17)
  • sensorineural deafness/hearing loss
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • palmoplantar hyperkeratosis/keratoderma
  • anomalies of cartilages, joints and periarticular tissue
  • autosomal dominant inheritance
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • anomalies of spine, vertebrae and pelvis
  • ichthyosis/ichthyosiform dermatitis
  • follicular/erythematous/edematous papules/milium
  • alopecia
  • nails anomalies
  • dysplastic/thick/grooved toenails
  • auto-aggressivity/auto-mutilation
  • osteolysis/osteoclasia/bone destruction/erosions

HPO human phenotypes related to Vohwinkel Syndrome:

(show all 13)
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 autosomal dominant inheritance HP:0000006
11 autoamputation of digits HP:0007460
12 honeycomb palmoplantar keratoderma HP:0007465
13 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 Vohwinkel Syndrome22 GJB2
2 Mutilating Keratoderma24

Anatomical Context for Vohwinkel Syndrome

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MalaCards organs/tissues related to Vohwinkel Syndrome:

33
Skin, Bone

Animal Models for Vohwinkel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Vohwinkel Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0GJB2, GJB6, LOR, TGM1

Publications for Vohwinkel Syndrome

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Articles related to Vohwinkel Syndrome:

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

67
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

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 pathways (with members indented)ScoreTop 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
1connexon complexGO:00059229.7GJB2, 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
1cell communicationGO:00071549.8GJB2, GJB6
2keratinizationGO:00314249.3LOR, TGM1
3sensory perception of soundGO:00076059.1GJB2, GJB6
4keratinocyte differentiationGO:00302169.0LOR, TGM1
5peptide cross-linkingGO:00181499.0LOR, TGM1

Sources for Vohwinkel Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet