KHM
MCID: VHW001
MIFTS: 45

Vohwinkel Syndrome (KHM) malady

Ear, Skin, Fetal categories

Summaries for Vohwinkel Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 keratoderma and vohwinkel syndrome with ichthyosis, 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 collodion and epsilon-(gamma-glutamyl)lysine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

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

Sources:
43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Ear, Skin


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 61
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:

OMIM47 124500
ICD10 via Orphanet26 Q82.8

Related Diseases for Vohwinkel Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Vohwinkel Syndrome:



Diseases related to vohwinkel syndrome

Clinical Features for Vohwinkel Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

124500

Clinical synopsis from OMIM:

124500

Symptoms:

49 (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

Drugs & Therapeutics for Vohwinkel Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Vohwinkel Syndrome

Drug clinical trials:

Search ClinicalTrials for Vohwinkel Syndrome

Search NIH Clinical Center for Vohwinkel Syndrome

Search CenterWatch for Vohwinkel Syndrome

Genetic Tests for Vohwinkel Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Vohwinkel Syndrome:

id Genetic test Affiliating Genes
1 Vohwinkel Syndrome20 GJB2
2 Mutilating Keratoderma22

Anatomical Context for Vohwinkel Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Vohwinkel Syndrome:

33
Skin

Animal Models for Vohwinkel Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Vohwinkel Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7KRT10, GUSB, GJB2
2MP:00053778.6GJB2, KRT10, GUSB
3MP:00053718.4KRT10, GJB2, GUSB
4MP:00107717.6KRT10, LOR, GUSB, GJB2, TGM1
5MP:00053787.5TGM1, KRT10, LOR, GUSB, GJB2

Publications for Vohwinkel Syndrome

Sources:
51PubMed
See all sources

Articles related to Vohwinkel Syndrome:

(show all 28)
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
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. (17106596)
2006
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
Vohwinkel's syndrome in three generations. (11174420)
2001
16
Keratoderma hereditarium mutilans (Vohwinkel syndrome): an unsolved surgical mystery. (11604631)
2001
17
An Indian case of keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with ichthyosiform dermatosis. (11732725)
2001
18
Molecular quantification of human beta-glucuronidase levels in a patient with Vohwinkel's syndrome. (11266492)
2001
19
Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma. (11038186)
2000
20
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. (10369869)
1999
21
Keratoderma hereditaria mutilans (vohwinkel's syndrome). (20944319)
1997
22
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. (8673107)
1996
23
Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism. (7748756)
1995
24
Surgical correction of pseudo-ainhum in Vohwinkel syndrome. (7561409)
1995
25
Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies. (8010352)
1994
26
Keratoderma hereditaria mutilans or Vohwinkel's syndrome. (2937815)
1986
27
Keratoderma hereditaria mutilans (Vohwinkel's syndrome): a trial of isotretinoin. (3157929)
1985
28
Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin. (6237617)
1984

Genetic Variations for Vohwinkel Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Vohwinkel Syndrome:

63
id Symbol AA change Variation SNP ID
1GJB2p.Asp66HisVAR_008710
2GJB2p.Gly130ValVAR_069522

Expression for genes affiliated with Vohwinkel Syndrome

Sources:
1BioGPS, 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

Compounds for genes affiliated with Vohwinkel Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Vohwinkel Syndrome according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1collodion459.6TGM1, LOR
2epsilon-(gamma-glutamyl)lysine459.6TGM1, LOR
3hematoxylin459.2KRT10, LOR
4calcipotriol45 60 29 1112.2KRT10, TGM1
5gf 109203x45 6010.0TGM1, KRT10
6proline458.8KRT10, GJB2, LOR
7retinoid458.8TGM1, KRT10, GJB2
81,25 dihydroxy vitamin d3458.7TGM1, KRT10
9progesterone45 60 29 11 2412.6GJB2, KRT10, TGM1
10steroid458.4TGM1, KRT10, LOR
11retinoic acid45 249.2LOR, GJB2, KRT10, TGM1
12calcium45 50 11 2410.8LOR, GUSB, GJB2, KRT10, TGM1

GO Terms for genes affiliated with Vohwinkel Syndrome

Sources:
16Gene Ontology
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Cellular components related to Vohwinkel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:0015339.3TGM1, LOR

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

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:0314249.3TGM1, LOR
2peptide cross-linkingGO:0181499.0TGM1, LOR
3keratinocyte differentiationGO:0302168.4TGM1, KRT10, LOR

Products for genes affiliated with Vohwinkel Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vohwinkel Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet