MCID: VHW002
MIFTS: 29

Vohwinkel Syndrome with Ichthyosis malady

Genetic diseases (common), Skin diseases categories

Aliases & Classifications for Vohwinkel Syndrome with Ichthyosis

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Aliases & Descriptions for Vohwinkel Syndrome with Ichthyosis:

Name: Vohwinkel Syndrome with Ichthyosis 49 32 11 22 67
Vohwinkel Syndrome, Variant Form 24 65
Mutilating Keratoderma with Ichthyosis 67
Vohwinkel Syndrome Variant Form 67
 
Loricrin Keratoderma 67
Vsi 67
Lk 67


Classifications:



External Ids:

OMIM49 604117
MedGen34 C1858805

Summaries for Vohwinkel Syndrome with Ichthyosis

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UniProtKB/Swiss-Prot:67 Vohwinkel syndrome with ichthyosis: A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies.

MalaCards based summary: Vohwinkel Syndrome with Ichthyosis, also known as vohwinkel syndrome, variant form, is related to landau-kleffner syndrome and epilepsy, focal, with speech disorder and with or without mental retardation, and has symptoms including palmoplantar keratoderma, ichthyosis and hypertonia. An important gene associated with Vohwinkel Syndrome with Ichthyosis is LOR (Loricrin). Affiliated tissues include skin.

Description from OMIM:49 604117

Related Diseases for Vohwinkel Syndrome with Ichthyosis

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Graphical network of the top 20 diseases related to Vohwinkel Syndrome with Ichthyosis:



Diseases related to vohwinkel syndrome with ichthyosis

Symptoms for Vohwinkel Syndrome with Ichthyosis

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Symptoms by clinical synopsis from OMIM:

604117

Clinical features from OMIM:

604117

HPO human phenotypes related to Vohwinkel Syndrome with Ichthyosis:

(show all 8)
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
6 hyperkeratosis HP:0000962
7 parakeratosis HP:0001036
8 orthokeratosis HP:0040162

Drugs & Therapeutics for Vohwinkel Syndrome with Ichthyosis

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Interventional clinical trials:

Search ClinicalTrials, 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 with Ichthyosis22 LOR
2 Vohwinkel Syndrome, Variant Form24

Anatomical Context for Vohwinkel Syndrome with Ichthyosis

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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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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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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
1keratinizationGO:00314249.2LOR, TGM1
2peptide cross-linkingGO:00181499.1LOR, TGM1
3keratinocyte differentiationGO:00302168.8LOR, TGM1

Sources for Vohwinkel Syndrome with Ichthyosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet