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 51 34 24 53 69 12
Vohwinkel Syndrome, Variant Form 51 67
Vohwinkel Syndrome Variant Form 69 26
Loricrin Keratoderma 53 69
Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome 53
 
Keratoderma Hereditarium Mutilans with Ichthyosis 53
Mutilating Keratoderma with Ichthyosis 69
Camisa Disease 53
Vsi 69
Lk 69

Characteristics:

Orphanet epidemiological data:

53
vohwinkel syndrome with ichthyosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 604117
Orphanet53 ORPHA79395
ICD10 via Orphanet30 Q82.8
MedGen36 C1858805

Summaries for Vohwinkel Syndrome with Ichthyosis

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UniProtKB/Swiss-Prot:69 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:70 Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome,... more...

Description from OMIM:51 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

Human phenotypes related to Vohwinkel Syndrome with Ichthyosis:

 63 53 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma63 hallmark (90%) HP:0000982
2 ichthyosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008064
3 hypertonia63 occasional (7.5%) HP:0001276
4 abnormality of the nail63 occasional (7.5%) HP:0001597
5 self-injurious behavior63 occasional (7.5%) HP:0100716
6 hyperkeratosis63 HP:0000962
7 parakeratosis63 HP:0001036
8 orthokeratosis63 HP:0040162
9 sensorineural hearing impairment53 Occasional (29-5%)
10 thick nail53 Occasional (29-5%)
11 honeycomb palmoplantar keratoderma53 Very frequent (99-80%)
12 congenital nonbullous ichthyosiform erythroderma53 Very frequent (99-80%)
13 nail dystrophy53 Occasional (29-5%)
14 amniotic constriction ring53 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 Form26
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:

35
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, 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:00314249.2LOR, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet