MCID: VHW002
MIFTS: 30

Vohwinkel Syndrome with Ichthyosis malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Vohwinkel Syndrome with Ichthyosis

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Aliases & Descriptions for Vohwinkel Syndrome with Ichthyosis:

Name: Vohwinkel Syndrome with Ichthyosis 50 33 23 68 12
Vohwinkel Syndrome Variant Form 68 25
Loricrin Keratoderma 52 68
Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome 52
Keratoderma Hereditarium Mutilans with Ichthyosis 52
Vohwinkel Syndrome-Ichthyosis Syndrome 52
 
Mutilating Keratoderma with Ichthyosis 68
Vohwinkel Syndrome, Variant Form 50
Camisa Disease 52
Vsi 68
Lk 68

Characteristics:

Orphanet epidemiological data:

52
loricrin keratoderma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 604117
Orphanet52 ORPHA79395
ICD10 via Orphanet29 Q82.8
MedGen35 C1858805

Summaries for Vohwinkel Syndrome with Ichthyosis

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UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome,... more...

Description from OMIM:50 604117

Related Diseases for Vohwinkel Syndrome with Ichthyosis

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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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Symptoms by clinical synopsis from OMIM:

604117

Clinical features from OMIM:

604117

Symptoms:

 52 (show all 7)
  • sensorineural hearing impairment
  • thick nail
  • honeycomb palmoplantar keratoderma
  • congenital nonbullous ichthyosiform erythroderma
  • ichthyosis
  • nail dystrophy
  • amniotic constriction ring

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, Variant Form25
2 Vohwinkel Syndrome with Ichthyosis23 LOR

Anatomical Context for Vohwinkel Syndrome with Ichthyosis

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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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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
2keratinocyte differentiationGO:00302169.1LOR, TGM1
3peptide cross-linkingGO:00181498.8LOR, TGM1

Sources for Vohwinkel Syndrome with Ichthyosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet