MCID: VHW002
MIFTS: 21

Vohwinkel Syndrome with Ichthyosis malady

Genetic diseases (common) category

Aliases & Classifications for Vohwinkel Syndrome with Ichthyosis

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Aliases & Descriptions for Vohwinkel Syndrome with Ichthyosis:

Name: Vohwinkel Syndrome with Ichthyosis 46 30 9
 
Vohwinkel Syndrome, Variant Form 46 22 61


Classifications:



External Ids:

OMIM46 604117

Summaries for Vohwinkel Syndrome with Ichthyosis

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MalaCards based summary: Vohwinkel Syndrome with Ichthyosis, also known as vohwinkel syndrome, variant form, is related to vohwinkel syndrome and keratoderma. 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. Related mouse phenotype integument.

Description from OMIM:46 604117

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1vohwinkel syndrome30.8LOR
2keratoderma30.4TGM1, LOR
3keratoderma hereditarium mutilans with ichthyosis10.3
4ichthyosis vulgaris9.9LOR, TGM1
5epidermolytic hyperkeratosis9.9LOR, TGM1
6congenital ichthyosiform erythroderma9.9LOR, TGM1
7psoriasis9.9TGM1, LOR
8palmoplantar keratoderma, nonepidermolytic9.8TGM1, LOR
9skin disease9.7LOR, TGM1

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

Drugs & Therapeutics for Vohwinkel Syndrome with Ichthyosis

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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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Genetic tests related to Vohwinkel Syndrome with Ichthyosis:

id Genetic test Affiliating Genes
1 Vohwinkel Syndrome, Variant Form22

Anatomical Context for Vohwinkel Syndrome with Ichthyosis

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Animal Models for Vohwinkel Syndrome with Ichthyosis or affiliated genes

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MGI Mouse Phenotypes related to Vohwinkel Syndrome with Ichthyosis:

35
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:

5
id Gene Variation 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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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
See all sources

Compounds related to Vohwinkel Syndrome with Ichthyosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1collodion449.2LOR, TGM1
2epsilon-(gamma-glutamyl)lysine449.2LOR, TGM1
3vitamin a44 24 1111.1LOR, TGM1
4lipid449.1LOR, TGM1
5steroid449.0TGM1, LOR
6retinoic acid44 249.8LOR, TGM1

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00015339.1LOR, TGM1

Biological processes related to Vohwinkel Syndrome with Ichthyosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:00302169.1LOR, TGM1
2peptide cross-linkingGO:00181499.0LOR, TGM1
3keratinizationGO:00314248.8LOR, TGM1

Sources for Vohwinkel Syndrome with Ichthyosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet