KHM
MCID: VHW001
MIFTS: 51

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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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

MalaCards: Vohwinkel Syndrome, also known as mutilating keratoderma, is related to vohwinkel syndrome with ichthyosis and keratoderma, and has symptoms including osteolysis/osteoclasia/bone destruction/erosions, auto-aggressivity/auto-mutilation and dysplastic/thick/grooved toenails. 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:47 124500

Aliases & Classifications for Vohwinkel Syndrome

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43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 22GTR, 62UMLS, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
vohwinkel syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

vohwinkel syndrome 43 20 21 47 45 49
mutilating keratoderma 43 22 21 62
keratoderma hereditarium mutilans 43 21 49
khm 43 21
deafness, congenital, with keratopachydermia and constrictions of fingers and toes 43
congenital deafness with keratopachydermia and constrictions of fingers and toes 21
palmoplantar keratoderma mutilans vohwinkel 21
mutilating keratoderma plus deafness 49
mutilating keratoderma of vohwinkel 49
palmoplantar keratoderma mutilans 21
ppk mutilans and deafness 49
ppk mutilans vohwinkel 21


External Ids:

UMLS via Orphanet63 C0265964
SNOMED-CT via Orphanet59 24559001
OMIM47 124500
ICD10 via Orphanet26 Q82.8

Related Diseases for Vohwinkel Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

124500

Clinical features from OMIM:

124500

Symptoms:

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

Drugs & Therapeutics for Vohwinkel Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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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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33MalaCards
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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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37MGI
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MGI Mouse Phenotypes related to Vohwinkel Syndrome:

37
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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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB, 51PharmGKB
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Compounds related to Vohwinkel Syndrome according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1hematoxylin459.6KRT10, LOR
2calcipotriol45 61 29 1112.4TGM1, KRT10
3collodion459.4LOR, TGM1
4epsilon-(gamma-glutamyl)lysine459.4LOR, TGM1
5histidine459.3KRT10, LOR
61,25 dihydroxy vitamin d3459.3KRT10, TGM1
7gf 109203x45 6110.3TGM1, KRT10
8calcitriol45 61 24 1112.2TGM1, KRT10
9paraffin459.1KRT10, GJB2
10thymidine45 2410.1GJB2, TGM1
11vitamin a45 24 1111.1LOR, TGM1
12proline459.1KRT10, GJB2, LOR
13vitamin d459.0TGM1, KRT10
14retinoid458.9KRT10, GJB2, TGM1
15progesterone45 29 61 24 1112.9KRT10, GJB2, TGM1
16steroid458.7TGM1, LOR, KRT10
17lipid458.7GJB2, LOR, TGM1
18retinoic acid45 249.3TGM1, LOR, GJB2, KRT10
19calcium45 51 24 1111.3TGM1, LOR, GJB2, KRT10

GO Terms for genes affiliated with Vohwinkel Syndrome

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16Gene Ontology
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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
  • Lysates
  • Antibodies

Sources for Vohwinkel Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet