MCID: VHW002
MIFTS: 31

Vohwinkel Syndrome with Ichthyosis malady

Skin diseases, Rare diseases categories

Summaries for Vohwinkel Syndrome with Ichthyosis

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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. Affiliated tissues include skin, and related mouse phenotype integument.

Description from OMIM:48 604117

Aliases & Classifications for Vohwinkel Syndrome with Ichthyosis

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Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Aliases & Descriptions:

vohwinkel syndrome with ichthyosis 48
keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase 50
keratoderma hereditarium mutilans with ichthyosis 50
vohwinkel syndrome, variant form 63
vohwinkel syndrome - ichthyosis 50
loricrin keratoderma 50
camisa disease 50


External Ids:

OMIM48 604117
ICD10 via Orphanet27 Q82.8

Related Diseases for Vohwinkel Syndrome with Ichthyosis

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18GeneCards, 19GeneDecks
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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
1vohwinkel syndrome30.5LOR
2keratoderma30.4TGM1, LOR
3congenital ichthyosiform erythroderma30.3LOR, TGM1
4skin disease30.2TGM1, LOR
5endotheliitis10.2
6ichthyosis vulgaris10.0LOR, TGM1
7epidermolytic hyperkeratosis10.0LOR, TGM1
8psoriasis10.0LOR, TGM1
9nonepidermolytic palmoplantar keratoderma10.0TGM1, LOR

Graphical network of diseases related to Vohwinkel Syndrome with Ichthyosis:



Diseases related to vohwinkel syndrome with ichthyosis

Symptoms for Vohwinkel Syndrome with Ichthyosis

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48OMIM, 50Orphanet
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Clinical features from OMIM:

604117

Symptoms:

50
  • 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Vohwinkel Syndrome with Ichthyosis:

34
Skin

Animal Models for Vohwinkel Syndrome with Ichthyosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Vohwinkel Syndrome with Ichthyosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.1LOR, TGM1

Publications for Vohwinkel Syndrome with Ichthyosis

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53PubMed
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Articles related to Vohwinkel Syndrome with Ichthyosis:

idTitleAuthorsYear
1
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). (15102081)
2004

Variations for Vohwinkel Syndrome with Ichthyosis

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Expression for genes affiliated with Vohwinkel Syndrome with Ichthyosis

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Sources:
2BioGPS, 16Gene 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:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Vohwinkel Syndrome with Ichthyosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1collodion469.2LOR, TGM1
2epsilon-(gamma-glutamyl)lysine469.2LOR, TGM1
3vitamin a46 25 1211.1LOR, TGM1
4lipid469.1LOR, TGM1
5steroid469.0TGM1, LOR
6retinoic acid46 259.8LOR, TGM1

GO Terms for genes affiliated with Vohwinkel Syndrome with Ichthyosis

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Sources:
17Gene Ontology
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Cellular components related to Vohwinkel Syndrome with Ichthyosis according to GeneCards/GeneDecks:

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

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

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

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet