MCID: VHW003
MIFTS: 28

Vohwinkel Syndrome, Variant Form

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

Aliases & Classifications for Vohwinkel Syndrome, Variant Form

MalaCards integrated aliases for Vohwinkel Syndrome, Variant Form:

Name: Vohwinkel Syndrome, Variant Form 57 29 6 73
Vohwinkel Syndrome with Ichthyosis 57 38 59 75 13 40
Loricrin Keratoderma 57 59 75
Mutilating Keratoderma with Ichthyosis 57 75
Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome 59
Keratoderma Hereditarium Mutilans with Ichthyosis 59
Vohwinkel Syndrome Variant Form 75
Camisa Disease 59
Vsi 75
Lk 75

Characteristics:

Orphanet epidemiological data:

59
keratoderma hereditarium mutilans with ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
vohwinkel syndrome, variant form:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 604117
Orphanet 59 ORPHA79395
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 74 C1858805
MedGen 42 C1858805
UMLS 73 C1858805

Summaries for Vohwinkel Syndrome, Variant Form

UniProtKB/Swiss-Prot : 75 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 sensorineural hearing impairment and thick nail

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 12)
# Related Disease Score Top Affiliating Genes
1 landau-kleffner syndrome 12.1
2 epilepsy, focal, with speech disorder and with or without mental retardation 11.8
3 epilepsy-aphasia spectrum 10.9
4 vohwinkel syndrome 10.1
5 ichthyosis 10.1
6 autism 9.8
7 nasopharyngeal carcinoma 9.8
8 aphasia 9.8
9 nasopharyngitis 9.8
10 status epilepticus 9.8
11 auditory system disease 9.8
12 dwarfism 9.8

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Vohwinkel Syndrome, Variant Form:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
2 thick nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001805
3 honeycomb palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007465
4 congenital nonbullous ichthyosiform erythroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007479
5 nail dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008404
6 amniotic constriction ring 59 32 occasional (7.5%) Occasional (29-5%) HP:0009775
7 ichthyosis 59 Very frequent (99-80%)
8 hyperkeratosis 32 HP:0000962
9 parakeratosis 32 HP:0001036
10 hypergranulosis 32 HP:0025114
11 orthokeratosis 32 HP:0040162

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 29 LOR

Anatomical Context for Vohwinkel Syndrome, Variant Form

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

41
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, 730G insertion Pathogenic
2 LOR LOR, 1-BP INS, 709C insertion Pathogenic

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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