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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Wikipedia:65 Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome,... more...

MalaCards based summary: Vohwinkel Syndrome with Ichthyosis, also known as loricrin keratoderma, 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:46 604117

Aliases & Classifications for Vohwinkel Syndrome with Ichthyosis

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Sources:
30LifeMap Discovery®, 9diseasecard, 46OMIM, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Vohwinkel Syndrome with Ichthyosis, Aliases & Descriptions:

Name: Vohwinkel Syndrome with Ichthyosis 30 9 46 62
Loricrin Keratoderma 48 62
Keratoderma - Ichthyosiform Dermatosis - Elevated Beta-Glucuronidase 48
 
Keratoderma Hereditarium Mutilans with Ichthyosis 48
Vohwinkel Syndrome - Ichthyosis 48
Camisa Disease 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


External Ids:

OMIM46 604117
ICD10 via Orphanet26 Q82.8

Related Diseases for Vohwinkel Syndrome with Ichthyosis

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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 syndrome30.8LOR
2keratoderma30.4TGM1, LOR
3congenital ichthyosiform erythroderma30.2LOR, TGM1
4skin disease30.0LOR, TGM1
5endotheliitis10.2
6ichthyosis vulgaris9.9LOR, TGM1
7epidermolytic hyperkeratosis9.9LOR, TGM1
8psoriasis9.9TGM1, LOR
9nonepidermolytic palmoplantar keratoderma9.8TGM1, 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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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

HPO human phenotypes related to Vohwinkel Syndrome with Ichthyosis:

id Description Frequency HPO Source Accession
1 palmoplantar keratoderma hallmark (90%) HP:0000982
2 ichthyosis hallmark (90%) HP:0008064
3 hypertonia occasional (7.5%) HP:0001276
4 abnormality of the nail occasional (7.5%) HP:0001597
5 self-injurious behavior occasional (7.5%) HP:0100716

Drugs & Therapeutics for Vohwinkel Syndrome with Ichthyosis

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Drug clinical trials:

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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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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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MGI Mouse Phenotypes related to Vohwinkel Syndrome with Ichthyosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.1LOR, TGM1

Publications for Vohwinkel Syndrome with Ichthyosis

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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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Clinvar genetic disease variations for Vohwinkel Syndrome with Ichthyosis:

6
id Gene Name Type Significance SNP ID Assembly Location
1LORLOR, 1-BP INS, 730GinsertionPathogenic
2LORLOR, 1-BP INS, 709CinsertionPathogenic

Expression for genes affiliated with Vohwinkel Syndrome with Ichthyosis

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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)lysine449.2TGM1, LOR
3vitamin a44 24 1111.1TGM1, LOR
4lipid449.1TGM1, LOR
5steroid449.0TGM1, LOR
6retinoic acid44 249.8TGM1, LOR

GO Terms for genes affiliated with Vohwinkel Syndrome with Ichthyosis

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet