MCID: VHW002
MIFTS: 28

Vohwinkel Syndrome with Ichthyosis malady

Skin diseases category

Summaries for Vohwinkel Syndrome with Ichthyosis

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 congenital ichthyosiform erythroderma and skin disease, 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. Affiliated tissues include skin.

Description from OMIM:46 604117

Aliases & Classifications for Vohwinkel Syndrome with Ichthyosis

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Sources:
46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

vohwinkel syndrome with ichthyosis 46
keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase 48
keratoderma hereditarium mutilans with ichthyosis 48
vohwinkel syndrome, variant form 60
vohwinkel syndrome - ichthyosis 48
loricrin keratoderma 48
camisa disease 48


External Ids:

OMIM46 604117
ICD10 via Orphanet26 Q82.8

Related Diseases for Vohwinkel Syndrome with Ichthyosis

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17GeneCards, 18GeneDecks
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Diseases related to Vohwinkel Syndrome with Ichthyosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma30.2LOR, TGM1
2skin disease30.2TGM1, LOR
3vohwinkel syndrome10.0LOR
4dermatitis10.0LOR
5ichthyosis vulgaris10.0LOR, TGM1
6epidermolytic hyperkeratosis10.0LOR, TGM1
7nonepidermolytic palmoplantar keratoderma10.0LOR, TGM1
8keratoderma10.0LOR, TGM1
9psoriasis10.0TGM1, 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

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

604117

Symptoms:

48
  • 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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Vohwinkel Syndrome with Ichthyosis

Genetic Tests for Vohwinkel Syndrome with Ichthyosis

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Anatomical Context for Vohwinkel Syndrome with Ichthyosis

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32MalaCards
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MalaCards organs/tissues related to Vohwinkel Syndrome with Ichthyosis:

32
Skin

Animal Models for Vohwinkel Syndrome with Ichthyosis or affiliated genes

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Publications for Vohwinkel Syndrome with Ichthyosis

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Genetic Variations for Vohwinkel Syndrome with Ichthyosis

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Expression for genes affiliated with Vohwinkel Syndrome with Ichthyosis

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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 with Ichthyosis

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

Pathways for genes affiliated with Vohwinkel Syndrome with Ichthyosis

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Compounds for genes affiliated with Vohwinkel Syndrome with Ichthyosis

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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Vohwinkel Syndrome with Ichthyosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1collodion449.2TGM1, LOR
2epsilon-(gamma-glutamyl)lysine449.1TGM1, LOR
3retinoic acid44 2410.1TGM1, LOR
4vitamin a44 11 2411.0LOR, TGM1
5steroid448.8TGM1, LOR

GO Terms for genes affiliated with Vohwinkel Syndrome with Ichthyosis

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vohwinkel Syndrome with Ichthyosis

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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