KHM
MCID: VHW001
MIFTS: 52

Vohwinkel Syndrome (KHM) malady

Genetic diseases, Rare diseases, Ear diseases, Skin diseases, Fetal diseases categories
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Summaries for Vohwinkel Syndrome

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Wikipedia:65 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

MalaCards based summary: Vohwinkel Syndrome, also known as mutilating keratoderma, is related to vohwinkel syndrome with ichthyosis and keratoderma, and has symptoms including sensorineural deafness/hearing loss, hyperkeratosis/ainhum/hyperkeratotic skin fissures and palmoplantar hyperkeratosis/keratoderma. An important gene associated with Vohwinkel Syndrome is GJB2 (gap junction protein, beta 2, 26kDa). The compounds hematoxylin and calcipotriol have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related mouse phenotypes are growth/size/body and integument.

Genetics Home Reference:21 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

Description from OMIM:46 124500

Aliases & Classifications for Vohwinkel Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Vohwinkel Syndrome, Aliases & Descriptions:

Name: Vohwinkel Syndrome 42 20 21 46 44 48
Mutilating Keratoderma 42 22 21 62
Keratoderma Hereditarium Mutilans 42 21 48
Khm 42 21
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 42
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 21
 
Palmoplantar Keratoderma Mutilans Vohwinkel 21
Mutilating Keratoderma Plus Deafness 48
Mutilating Keratoderma of Vohwinkel 48
Palmoplantar Keratoderma Mutilans 21
Ppk Mutilans and Deafness 48
Ppk Mutilans Vohwinkel 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
vohwinkel syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


External Ids:

OMIM46 124500
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet63 C0265964

Related Diseases for Vohwinkel Syndrome

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Graphical network of 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:

48 (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 15)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 palmoplantar keratoderma hallmark (90%) HP:0000982
3 abnormality of the genital system typical (50%) HP:0000078
4 cognitive impairment typical (50%) HP:0100543
5 cleft palate occasional (7.5%) HP:0000175
6 alopecia occasional (7.5%) HP:0001596
7 osteolysis occasional (7.5%) HP:0002797
8 ichthyosis occasional (7.5%) HP:0008064
9 abnormality of the toenail occasional (7.5%) HP:0008388
10 self-injurious behavior occasional (7.5%) HP:0100716
11 autosomal dominant inheritance HP:0000006
12 hearing impairment HP:0000365
13 autoamputation of digits HP:0007460
14 honeycomb palmoplantar keratoderma HP:0007465
15 amniotic constriction ring HP:0009775

Drugs & Therapeutics for Vohwinkel Syndrome

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Drug clinical trials:

Search ClinicalTrials for Vohwinkel Syndrome

Search 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 Syndrome20 GJB2
2 Mutilating Keratoderma22

Anatomical Context for Vohwinkel Syndrome

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MalaCards organs/tissues related to Vohwinkel Syndrome:

32
Skin, Bone

Animal Models for Vohwinkel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Vohwinkel Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.0KRT10, GJB2, LOR, TGM1
2MP:00107717.7KRT10, GJB2, 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:

64
id Symbol AA change Variation ID SNP ID
1GJB2p.Asp66HisVAR_008710
2GJB2p.Gly130ValVAR_069522

Clinvar genetic disease variations for Vohwinkel Syndrome:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Vohwinkel Syndrome

Search GEO for disease gene expression data for Vohwinkel Syndrome.

Pathways for genes affiliated with Vohwinkel Syndrome

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Compounds for genes affiliated with Vohwinkel Syndrome

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Compounds related to Vohwinkel Syndrome according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1hematoxylin449.6KRT10, LOR
2calcipotriol44 61 28 1112.4TGM1, KRT10
3collodion449.4LOR, TGM1
4epsilon-(gamma-glutamyl)lysine449.4LOR, TGM1
5histidine449.3KRT10, LOR
61,25 dihydroxy vitamin d3449.3KRT10, TGM1
7gf 109203x44 6110.3TGM1, KRT10
8calcitriol44 61 24 1112.2TGM1, KRT10
9paraffin449.1KRT10, GJB2
10thymidine44 2410.1GJB2, TGM1
11vitamin a44 24 1111.1LOR, TGM1
12proline449.1KRT10, GJB2, LOR
13vitamin d449.0TGM1, KRT10
14retinoid448.9KRT10, GJB2, TGM1
15progesterone44 28 61 24 1112.9KRT10, GJB2, TGM1
16steroid448.7TGM1, LOR, KRT10
17lipid448.7GJB2, LOR, TGM1
18retinoic acid44 249.3TGM1, LOR, GJB2, KRT10
19calcium44 50 24 1111.3TGM1, LOR, GJB2, KRT10

GO Terms for genes affiliated with Vohwinkel Syndrome

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Cellular components related to Vohwinkel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:0015339.0LOR, TGM1

Biological processes related to Vohwinkel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:0314249.0LOR, TGM1
2peptide cross-linkingGO:0181498.7LOR, TGM1
3keratinocyte differentiationGO:0302168.4KRT10, LOR, TGM1

Products for genes affiliated with Vohwinkel Syndrome

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  • Antibodies
  • Proteins
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Sources for Vohwinkel Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet