MCID: VHW001
MIFTS: 38

Vohwinkel Syndrome malady

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

Aliases & Classifications for Vohwinkel Syndrome

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Aliases & Descriptions for Vohwinkel Syndrome:

Name: Vohwinkel Syndrome 49 11 45 22 23 47 51 67
Keratoderma Hereditarium Mutilans 45 23 51 67
Mutilating Keratoderma 45 23 67 24
Khm 45 23 67
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 23 67
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 45
Palmoplantar Keratoderma Mutilans Vohwinkel 23
 
Mutilating Keratoderma Plus Deafness 51
Deafness and Mutilating Keratoderma 22
Mutilating Keratoderma of Vohwinkel 51
Palmoplantar Keratoderma Mutilans 23
Ppk Mutilans and Deafness 51
Ppk Mutilans Vohwinkel 23
Vs 67

Characteristics:

Orphanet epidemiological data:

51
vohwinkel syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

61
vohwinkel syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 124500
Orphanet51 494
UMLS via Orphanet66 C0265964
ICD10 via Orphanet28 Q82.8
MedGen34 C0265964

Summaries for Vohwinkel Syndrome

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NIH Rare Diseases:45 Vohwinkel syndrome is an inherited condition that affects the skin. people with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. a "variant form" of vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. classic vohwinkel syndrome is caused by changes (mutations) in the gjb2 gene and the variant form is caused by mutations in the lor gene. both are inherited in an autosomal dominant manner. although there is currently no cure for the condition, treatments are available to alleviate symptoms. last updated: 12/18/2015

MalaCards based summary: Vohwinkel Syndrome, also known as keratoderma hereditarium mutilans, is related to vohwinkel syndrome with ichthyosis and keratoderma hereditarium mutilans with ichthyosis, and has symptoms including sensorineural hearing impairment, cognitive impairment and abnormality of the genital system. An important gene associated with Vohwinkel Syndrome is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, bone and breast.

UniProtKB/Swiss-Prot:67 Vohwinkel syndrome: VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.

Genetics Home Reference:23 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

Wikipedia:68 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM:49 124500

Related Diseases for Vohwinkel Syndrome

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



Diseases related to vohwinkel syndrome

Symptoms for Vohwinkel Syndrome

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Symptoms by clinical synopsis from OMIM:

124500

Clinical features from OMIM:

124500

Symptoms:

 51 (show all 17)
  • sensorineural deafness/hearing loss
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • palmoplantar hyperkeratosis/keratoderma
  • anomalies of cartilages, joints and periarticular tissue
  • autosomal dominant inheritance
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • anomalies of spine, vertebrae and pelvis
  • ichthyosis/ichthyosiform dermatitis
  • follicular/erythematous/edematous papules/milium
  • alopecia
  • nails anomalies
  • dysplastic/thick/grooved toenails
  • auto-aggressivity/auto-mutilation
  • osteolysis/osteoclasia/bone destruction/erosions

HPO human phenotypes related to Vohwinkel Syndrome:

(show all 12)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 cognitive impairment typical (50%) HP:0100543
3 abnormality of the genital system typical (50%) HP:0000078
4 self-injurious behavior occasional (7.5%) HP:0100716
5 abnormality of the toenails occasional (7.5%) HP:0008388
6 ichthyosis occasional (7.5%) HP:0008064
7 osteolysis occasional (7.5%) HP:0002797
8 alopecia occasional (7.5%) HP:0001596
9 cleft palate occasional (7.5%) HP:0000175
10 amniotic constriction ring HP:0009775
11 honeycomb palmoplantar keratoderma HP:0007465
12 autoamputation of digits HP:0007460

Drugs & Therapeutics for Vohwinkel Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Vohwinkel Syndrome

Genetic Tests for Vohwinkel Syndrome

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Genetic tests related to Vohwinkel Syndrome:

id Genetic test Affiliating Genes
1 Vohwinkel Syndrome22 GJB2

Anatomical Context for Vohwinkel Syndrome

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MalaCards organs/tissues related to Vohwinkel Syndrome:

33
Skin, Bone, Breast, Brain

Animal Models for Vohwinkel Syndrome or affiliated genes

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Publications for Vohwinkel Syndrome

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Articles related to Vohwinkel Syndrome:

(show all 17)
idTitleAuthorsYear
1
Role of cyanate in the induction of vascular dysfunction during uremia: more than protein carbamylation? (25360490)
2014
2
Expression of vitamin D receptor and metabolizing enzymes in multiple sclerosis-affected brain tissue. (23334593)
2013
3
Calcium-sensing receptor autoantibodies and idiopathic hypoparathyroidism. (23873991)
2013
4
Pre-procedural platelet reactivity after clopidogrel loading in korean patients undergoing scheduled percutaneous coronary intervention. (20724801)
2010
5
Growth patterns in children with sickle cell anemia during puberty. (19544390)
2009
6
A minimally invasive approach in the treatment of vesicoureteral reflux in neurogenic bladder in children. (18675504)
2009
7
Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin. (19737971)
2009
8
Humoral immunoreactivity to gliadin and to tissue transglutaminase is present in some patients with multiple myeloma. (18507842)
2008
9
Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome. (17893653)
2007
10
Immunoreactive trypsin levels in neonates with meconium ileus. (16395608)
2006
11
Timing of surgery for primary exotropia in children. (17162440)
2006
12
Novel pharmacologic agents for type 2 diabetes. (15752927)
2005
13
C75, a fatty acid synthase inhibitor, modulates AMP-activated protein kinase to alter neuronal energy metabolism. (14615481)
2004
14
Retroperitoneal fibrosis. (8898793)
1996
15
Immunohistochemical detection of extracellular matrix in human breast carcinoma]. (8168185)
1993
16
Changes in plasma tetranectin following hip surgery with or without thrombotic complications. (1412218)
1992
17
Further evidence for the location of the BPES gene at 3q2. (1941972)
1991

Variations for Vohwinkel Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Vohwinkel Syndrome:

67
id Symbol AA change Variation ID SNP ID
1GJB2p.Asp66HisVAR_008710
2GJB2p.Gly130ValVAR_069522

Clinvar genetic disease variations for Vohwinkel Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GJB2NM_004004.5(GJB2): c.196G> C (p.Asp66His)single nucleotide variantPathogenicrs104894403GRCh37Chr 13, 20763525: 20763525

Expression for genes affiliated with Vohwinkel Syndrome

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Search GEO for disease gene expression data for Vohwinkel Syndrome.

Pathways for genes affiliated with Vohwinkel Syndrome

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GO Terms for genes affiliated with Vohwinkel Syndrome

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Sources for Vohwinkel Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet