MCID: VHW002
MIFTS: 29

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 52 35 24 54 70 12
Vohwinkel Syndrome, Variant Form 52 68
Vohwinkel Syndrome Variant Form 70 27
Loricrin Keratoderma 54 70
Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome 54
 
Keratoderma Hereditarium Mutilans with Ichthyosis 54
Mutilating Keratoderma with Ichthyosis 70
Camisa Disease 54
Vsi 70
Lk 70

Characteristics:

Orphanet epidemiological data:

54
vohwinkel syndrome with ichthyosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 604117
Orphanet54 ORPHA79395
ICD10 via Orphanet31 Q82.8
MedGen37 C1858805

Summaries for Vohwinkel Syndrome with Ichthyosis

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UniProtKB/Swiss-Prot:70 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:71 Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome,... more...

Description from OMIM:52 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 & Phenotypes for Vohwinkel Syndrome with Ichthyosis

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Symptoms by clinical synopsis from OMIM:

604117

Clinical features from OMIM:

604117

Human phenotypes related to Vohwinkel Syndrome with Ichthyosis:

 64 54 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma64 hallmark (90%) HP:0000982
2 ichthyosis64 54 hallmark (90%) Very frequent (99-80%) HP:0008064
3 hypertonia64 occasional (7.5%) HP:0001276
4 abnormality of the nail64 occasional (7.5%) HP:0001597
5 self-injurious behavior64 occasional (7.5%) HP:0100716
6 hyperkeratosis64 HP:0000962
7 parakeratosis64 HP:0001036
8 orthokeratosis64 HP:0040162
9 sensorineural hearing impairment54 Occasional (29-5%)
10 thick nail54 Occasional (29-5%)
11 honeycomb palmoplantar keratoderma54 Very frequent (99-80%)
12 congenital nonbullous ichthyosiform erythroderma54 Very frequent (99-80%)
13 nail dystrophy54 Occasional (29-5%)
14 amniotic constriction ring54 Occasional (29-5%)

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 Form27
2 Vohwinkel Syndrome with Ichthyosis24 LOR

Anatomical Context for Vohwinkel Syndrome with Ichthyosis

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MalaCards organs/tissues related to Vohwinkel Syndrome with Ichthyosis:

36
Skin

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, 730GinsertionPathogenicChr na, -1: -1
2LORLOR, 1-BP INS, 709CinsertionPathogenicChr na, -1: -1

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:00314249.7LOR, TGM1
2keratinocyte differentiationGO:00302169.6LOR, TGM1
3peptide cross-linkingGO:00181499.1LOR, TGM1

Sources for Vohwinkel Syndrome with Ichthyosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet