MCID: VHW002
MIFTS: 24

Vohwinkel Syndrome with Ichthyosis malady

Skin category

Summaries for Vohwinkel Syndrome with Ichthyosis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome,... more...

MalaCards: Vohwinkel Syndrome with Ichthyosis, also known as keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase, is related to vohwinkel syndrome and keratoderma, and has symptoms including palmoplantar hyperkeratosis/keratoderma, ichthyosis/ichthyosiform dermatitis and nails anomalies. An important gene associated with Vohwinkel Syndrome with Ichthyosis is LOR (loricrin). The compounds collodion and epsilon-(gamma-glutamyl)lysine have been mentioned in the context of this disorder.

Description from OMIM:47 604117

Aliases & Classifications for Vohwinkel Syndrome with Ichthyosis

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Aliases & Descriptions:

vohwinkel syndrome with ichthyosis 47
keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase 49
keratoderma hereditarium mutilans with ichthyosis 49
vohwinkel syndrome, variant form 61
vohwinkel syndrome - ichthyosis 49
loricrin keratoderma 49
camisa disease 49


External Ids:

OMIM47 604117
ICD10 via Orphanet26 Q82.8

Related Diseases for Vohwinkel Syndrome with Ichthyosis

Sources:
17GeneCards, 18GeneDecks
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Diseases in the vohwinkel syndrome family:

vohwinkel syndrome with ichthyosis

Diseases related to Vohwinkel Syndrome with Ichthyosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1vohwinkel syndrome30.4LOR
2keratoderma30.4LOR, TGM1
3congenital ichthyosiform erythroderma30.3LOR, TGM1
4n syndrome10.2
5dermatitis10.0LOR
6ichthyosis vulgaris10.0LOR, TGM1
7epidermolytic hyperkeratosis10.0LOR, TGM1
8nonepidermolytic palmoplantar keratoderma10.0LOR, TGM1
9psoriasis10.0TGM1, LOR
10skin disease10.0TGM1, LOR

Graphical network of diseases related to Vohwinkel Syndrome with Ichthyosis:



Diseases related to vohwinkel syndrome with ichthyosis

Clinical Features for Vohwinkel Syndrome with Ichthyosis

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

604117

Symptoms:

49 (show all 6)
  • palmoplantar hyperkeratosis/keratoderma
  • ichthyosis/ichthyosiform dermatitis
  • nails anomalies
  • motor deficit/trouble
  • hypertonia/spasticity/rigidity/stiffness
  • auto-aggressivity/auto-mutilation

Drugs & Therapeutics for Vohwinkel Syndrome with Ichthyosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Vohwinkel Syndrome with Ichthyosis

Drug clinical trials:

Search ClinicalTrials for Vohwinkel Syndrome with Ichthyosis

Search NIH Clinical Center for Vohwinkel Syndrome with Ichthyosis

Search CenterWatch for Vohwinkel Syndrome with Ichthyosis

Genetic Tests for Vohwinkel Syndrome with Ichthyosis

Anatomical Context for Vohwinkel Syndrome with Ichthyosis

Animal Models for Vohwinkel Syndrome with Ichthyosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Vohwinkel Syndrome with Ichthyosis

Genetic Variations for Vohwinkel Syndrome with Ichthyosis

Expression for genes affiliated with Vohwinkel Syndrome with Ichthyosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vohwinkel Syndrome with Ichthyosis

Search GEO for disease gene expression data for Vohwinkel Syndrome with Ichthyosis.

Pathways for genes affiliated with Vohwinkel Syndrome with Ichthyosis

Compounds for genes affiliated with Vohwinkel Syndrome with Ichthyosis

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Vohwinkel Syndrome with Ichthyosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1collodion459.2LOR, TGM1
2epsilon-(gamma-glutamyl)lysine459.1TGM1, LOR
3retinoic acid45 2410.1LOR, TGM1
4vitamin a45 11 2411.0LOR, TGM1
5steroid458.8LOR, TGM1

GO Terms for genes affiliated with Vohwinkel Syndrome with Ichthyosis

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

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:0015339.1TGM1, LOR

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

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:0302169.1TGM1, LOR
2peptide cross-linkingGO:0181499.0TGM1, LOR
3keratinizationGO:0314248.8TGM1, LOR

Products for genes affiliated with Vohwinkel Syndrome with Ichthyosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vohwinkel Syndrome with Ichthyosis

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