VSI
MCID: VHW003
MIFTS: 28

Vohwinkel Syndrome, Variant Form (VSI)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Vohwinkel Syndrome, Variant Form

MalaCards integrated aliases for Vohwinkel Syndrome, Variant Form:

Name: Vohwinkel Syndrome, Variant Form 58 30 6 74
Vohwinkel Syndrome with Ichthyosis 58 39 60 76 13 41
Loricrin Keratoderma 58 60 76
Mutilating Keratoderma with Ichthyosis 58 76
Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome 60
Keratoderma Hereditarium Mutilans with Ichthyosis 60
Vohwinkel Syndrome Variant Form 76
Camisa Disease 60
Vsi 76
Lk 76

Characteristics:

Orphanet epidemiological data:

60
keratoderma hereditarium mutilans with ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
vohwinkel syndrome, variant form:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 604117
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1858805
Orphanet 60 ORPHA79395
MedGen 43 C1858805
UMLS 74 C1858805

Summaries for Vohwinkel Syndrome, Variant Form

UniProtKB/Swiss-Prot : 76 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, Variant Form, also known as vohwinkel syndrome with ichthyosis, is related to landau-kleffner syndrome and epilepsy, focal, with speech disorder and with or without mental retardation. An important gene associated with Vohwinkel Syndrome, Variant Form is LOR (Loricrin). Affiliated tissues include skin and eye, and related phenotypes are congenital nonbullous ichthyosiform erythroderma and honeycomb palmoplantar keratoderma

Wikipedia : 77 Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome,... more...

Description from OMIM: 604117

Related Diseases for Vohwinkel Syndrome, Variant Form

Diseases in the Vohwinkel Syndrome family:

Vohwinkel Syndrome, Variant Form

Diseases related to Vohwinkel Syndrome, Variant Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 landau-kleffner syndrome 12.2
2 epilepsy, focal, with speech disorder and with or without mental retardation 12.0
3 epilepsy-aphasia spectrum 11.1
4 vohwinkel syndrome 10.3
5 ichthyosis 10.3
6 epidermolytic hyperkeratosis 10.2
7 nasopharyngeal carcinoma 10.0
8 aphasia 10.0
9 scoliosis 10.0
10 interstitial cystitis 10.0
11 cystitis 10.0
12 status epilepticus 10.0
13 dwarfism 10.0

Graphical network of the top 20 diseases related to Vohwinkel Syndrome, Variant Form:



Diseases related to Vohwinkel Syndrome, Variant Form

Symptoms & Phenotypes for Vohwinkel Syndrome, Variant Form

Human phenotypes related to Vohwinkel Syndrome, Variant Form:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital nonbullous ichthyosiform erythroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007479
2 honeycomb palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007465
3 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
4 nail dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008404
5 thick nail 60 33 occasional (7.5%) Occasional (29-5%) HP:0001805
6 amniotic constriction ring 60 33 occasional (7.5%) Occasional (29-5%) HP:0009775
7 ichthyosis 60 Very frequent (99-80%)
8 hyperkeratosis 33 HP:0000962
9 parakeratosis 33 HP:0001036
10 hypergranulosis 33 HP:0025114
11 orthokeratosis 33 HP:0040162

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
hyperkeratosis
parakeratosis
round retained nuclei
hypergranulosis
orthokeratosis
more
Skin Nails Hair Nails:
normal nails

Head And Neck Ears:
normal hearing

Head And Neck Eyes:
normal eyes

Skin Nails Hair Hair:
normal hair

Head And Neck Teeth:
normal teeth

Skin Nails Hair Skin:
collodion membrane at birth (in some patients)
ichthyosiform dermatosis, diffuse generalized
palmoplantar keratoderma, with honeycomb pattern (in most patients)
transgradient extension of hyperkeratosis onto wrists (in some patients)
starfish keratoses (in some patients)
more
Skin Nails Hair Skin Electron Microscopy:
loricrin-immunoreactive intranuclear granules

Clinical features from OMIM:

604117

Drugs & Therapeutics for Vohwinkel Syndrome, Variant Form

Search Clinical Trials , NIH Clinical Center for Vohwinkel Syndrome, Variant Form

Genetic Tests for Vohwinkel Syndrome, Variant Form

Genetic tests related to Vohwinkel Syndrome, Variant Form:

# Genetic test Affiliating Genes
1 Vohwinkel Syndrome, Variant Form 30 LOR

Anatomical Context for Vohwinkel Syndrome, Variant Form

MalaCards organs/tissues related to Vohwinkel Syndrome, Variant Form:

42
Skin, Eye

Publications for Vohwinkel Syndrome, Variant Form

Articles related to Vohwinkel Syndrome, Variant Form:

# Title Authors Year
1
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 28591443 )
2017
2
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 15102081 )
2004

Variations for Vohwinkel Syndrome, Variant Form

ClinVar genetic disease variations for Vohwinkel Syndrome, Variant Form:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LOR LOR, 1-BP INS, 709C insertion Pathogenic
2 LOR LOR, 1-BP INS, 730G insertion Pathogenic
3 LOR NM_000427.2(LOR): c.121_123dup (p.Gly41_Ser42insGly) duplication Uncertain significance GRCh38 Chromosome 1, 153261070: 153261072
4 LOR NM_000427.2(LOR): c.121_123dup (p.Gly41_Ser42insGly) duplication Uncertain significance GRCh37 Chromosome 1, 153233546: 153233548

Expression for Vohwinkel Syndrome, Variant Form

Search GEO for disease gene expression data for Vohwinkel Syndrome, Variant Form.

Pathways for Vohwinkel Syndrome, Variant Form

GO Terms for Vohwinkel Syndrome, Variant Form

Sources for Vohwinkel Syndrome, Variant Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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