KHM
MCID: VHW001
MIFTS: 48

Vohwinkel Syndrome (KHM) malady

Ear diseases, Skin diseases, Fetal diseases categories

Summaries for Vohwinkel Syndrome

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 skin disease, 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 collodion and epsilon-(gamma-glutamyl)lysine have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, 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:46 124500

Aliases & Classifications for Vohwinkel Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

vohwinkel syndrome 42 20 21 46 44 48
mutilating keratoderma 42 22 21 60
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


External Ids:

SNOMED-CT via Orphanet57 24559001
OMIM46 124500
ICD10 via Orphanet26 Q82.8

Related Diseases for Vohwinkel Syndrome

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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

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

124500

Clinical synopsis from OMIM:

124500

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Sources:
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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Sources:
32MalaCards
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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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Sources:
36MGI
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MGI Mouse Phenotypes related to Vohwinkel Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7KRT10, GJB2, GUSB
2MP:00053778.6KRT10, GJB2, GUSB
3MP:00053718.4GUSB, GJB2, KRT10
4MP:00107717.6TGM1, KRT10, GJB2, GUSB, LOR
5MP:00053787.5LOR, GUSB, GJB2, KRT10, TGM1

Publications for Vohwinkel Syndrome

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Genetic Variations for Vohwinkel Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Vohwinkel Syndrome:

62
id Symbol AA change Variation ID SNP ID
1GJB2p.Asp66HisVAR_008710
2GJB2p.Gly130ValVAR_069522

Expression for genes affiliated with Vohwinkel Syndrome

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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

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Compounds for genes affiliated with Vohwinkel Syndrome

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Vohwinkel Syndrome according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1collodion449.6TGM1, LOR
2epsilon-(gamma-glutamyl)lysine449.6TGM1, LOR
3hematoxylin449.2KRT10, LOR
4calcipotriol44 59 28 1112.2KRT10, TGM1
5gf 109203x44 5910.0TGM1, KRT10
6proline448.8KRT10, GJB2, LOR
7retinoid448.8TGM1, KRT10, GJB2
81,25 dihydroxy vitamin d3448.7TGM1, KRT10
9progesterone44 59 28 11 2412.6GJB2, KRT10, TGM1
10steroid448.4TGM1, KRT10, LOR
11retinoic acid44 249.2LOR, GJB2, KRT10, TGM1
12calcium44 49 11 2410.8LOR, GUSB, GJB2, KRT10, TGM1

GO Terms for genes affiliated with Vohwinkel Syndrome

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet