MCID: VHW002
MIFTS: 31

Vohwinkel Syndrome with Ichthyosis malady

Skin diseases, Rare diseases categories
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Summaries for Vohwinkel Syndrome with Ichthyosis

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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:47 604117

Aliases & Classifications for Vohwinkel Syndrome with Ichthyosis

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47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Aliases & Descriptions:

vohwinkel syndrome with ichthyosis 47
keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase 49
keratoderma hereditarium mutilans with ichthyosis 49
vohwinkel syndrome, variant form 62
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

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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
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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47OMIM, 49Orphanet
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Clinical features from OMIM:

604117

Symptoms:

49
  • 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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Vohwinkel Syndrome with Ichthyosis

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Vohwinkel Syndrome with Ichthyosis:

33
Skin

Animal Models for Vohwinkel Syndrome with Ichthyosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Vohwinkel Syndrome with Ichthyosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.1LOR, TGM1

Publications for Vohwinkel Syndrome with Ichthyosis

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52PubMed
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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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2BioGPS, 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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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)lysine459.2LOR, TGM1
3vitamin a45 24 1111.1LOR, TGM1
4lipid459.1LOR, TGM1
5steroid459.0TGM1, LOR
6retinoic acid45 249.8LOR, TGM1

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:0015339.1LOR, 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet