VSI
MCID: VHW002
MIFTS: 30

Vohwinkel Syndrome with Ichthyosis (VSI) malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Vohwinkel Syndrome with Ichthyosis

Aliases & Descriptions for Vohwinkel Syndrome with Ichthyosis:

Name: Vohwinkel Syndrome with Ichthyosis 54 38 24 56 66 13
Vohwinkel Syndrome, Variant Form 54 69
Vohwinkel Syndrome Variant Form 66 29
Loricrin Keratoderma 56 66
Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome 56
Keratoderma Hereditarium Mutilans with Ichthyosis 56
Mutilating Keratoderma with Ichthyosis 66
Camisa Disease 56
Vsi 66
Lk 66

Characteristics:

Orphanet epidemiological data:

56
keratoderma hereditarium mutilans with ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
vohwinkel syndrome with ichthyosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 604117
Orphanet 56 ORPHA79395
ICD10 via Orphanet 34 Q82.8
MedGen 40 C1858805

Summaries for Vohwinkel Syndrome with Ichthyosis

UniProtKB/Swiss-Prot : 66 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 sensorineural hearing impairment, nail dystrophy and congenital nonbullous ichthyosiform erythroderma. An important gene associated with Vohwinkel Syndrome with Ichthyosis is LOR (Loricrin), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin.

Wikipedia : 71 Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome,... more...

Description from OMIM: 604117

Related Diseases for Vohwinkel Syndrome with Ichthyosis

Diseases related to Vohwinkel Syndrome with Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
id Related Disease Score Top Affiliating Genes
1 landau-kleffner syndrome 11.9
2 epilepsy, focal, with speech disorder and with or without mental retardation 11.7
3 epilepsy-aphasia spectrum 10.8
4 vohwinkel syndrome 9.9
5 ichthyosis 9.9
6 roussy-levy syndrome 9.9 LOR TGM1
7 ectodermal dysplasia 2, clouston type 9.9 LOR TGM1
8 cerebroretinal microangiopathy with calcifications and cysts 9.8 LOR TGM1
9 solitary bone cyst 9.8 LOR TGM1
10 dermatitis, atopic 2 9.8 LOR TGM1
11 autistic disorder 9.8
12 aphasia 9.8
13 status epilepticus 9.8
14 tuberculosis 9.8
15 dwarfism 9.8
16 richter's syndrome 9.7 LOR TGM1

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



Diseases related to Vohwinkel Syndrome with Ichthyosis

Symptoms & Phenotypes for Vohwinkel Syndrome with Ichthyosis

Symptoms by clinical synopsis from OMIM:

604117

Clinical features from OMIM:

604117

Human phenotypes related to Vohwinkel Syndrome with Ichthyosis:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
2 nail dystrophy 56 32 Occasional (29-5%) HP:0008404
3 congenital nonbullous ichthyosiform erythroderma 56 32 Very frequent (99-80%) HP:0007479
4 thick nail 56 32 Occasional (29-5%) HP:0001805
5 amniotic constriction ring 56 32 Occasional (29-5%) HP:0009775
6 honeycomb palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0007465
7 ichthyosis 56 Very frequent (99-80%)
8 hyperkeratosis 32 HP:0000962
9 parakeratosis 32 HP:0001036
10 orthokeratosis 32 HP:0040162

Drugs & Therapeutics for Vohwinkel Syndrome with Ichthyosis

Search Clinical Trials , NIH Clinical Center for Vohwinkel Syndrome with Ichthyosis

Genetic Tests for Vohwinkel Syndrome with Ichthyosis

Genetic tests related to Vohwinkel Syndrome with Ichthyosis:

id Genetic test Affiliating Genes
1 Vohwinkel Syndrome, Variant Form 29
2 Vohwinkel Syndrome with Ichthyosis 24 LOR

Anatomical Context for Vohwinkel Syndrome with Ichthyosis

MalaCards organs/tissues related to Vohwinkel Syndrome with Ichthyosis:

39
Skin

Publications for Vohwinkel Syndrome with Ichthyosis

Articles related to Vohwinkel Syndrome with Ichthyosis:

id Title Authors Year
1
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 15102081 )
2004

Variations for Vohwinkel Syndrome with Ichthyosis

ClinVar genetic disease variations for Vohwinkel Syndrome with Ichthyosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LOR LOR, 1-BP INS, 730G insertion Pathogenic
2 LOR LOR, 1-BP INS, 709C insertion Pathogenic

Expression for Vohwinkel Syndrome with Ichthyosis

Search GEO for disease gene expression data for Vohwinkel Syndrome with Ichthyosis.

Pathways for Vohwinkel Syndrome with Ichthyosis

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.08 LOR TGM1

GO Terms for Vohwinkel Syndrome with Ichthyosis

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

id Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.62 LOR TGM1

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

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.26 LOR TGM1
2 cornification GO:0070268 9.16 LOR TGM1
3 keratinocyte differentiation GO:0030216 8.96 LOR TGM1
4 peptide cross-linking GO:0018149 8.62 LOR TGM1

Sources for Vohwinkel Syndrome with Ichthyosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....