VOWNKL
MCID: VHW001
MIFTS: 50

Vohwinkel Syndrome (VOWNKL)

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

Aliases & Classifications for Vohwinkel Syndrome

MalaCards integrated aliases for Vohwinkel Syndrome:

Name: Vohwinkel Syndrome 57 12 20 43 58 72 36 13 54 44 15
Mutilating Keratoderma 57 20 43 72 29 6 39
Keratoderma Hereditarium Mutilans 57 12 20 43 58 72
Khm 57 12 20 43 72
Vownkl 57 12 72
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 57 20
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 43 72
Mutilating Keratoderma Plus Deafness 12 58
Mutilating Keratoderma of Vohwinkel 12 58
Ppk Mutilans and Deafness 12 58
Congenital Deafness with Keratopachydermia and Constrictions Fo Fingers and Toes 12
Palmoplantar Keratoderma Mutilans Vohwinkel 43
Mutilating Keratoderma Plus Hearing Loss 58
Keratoderma Hereditarium Mutilans; Khm 57
Palmoplantar Keratoderma Mutilans 43
Ppk Mutilans and Hearing Loss 58
Ppk Mutilans Vohwinkel 43

Characteristics:

Orphanet epidemiological data:

58
keratoderma hereditarium mutilans
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , keratoderma, palmoplantar, with deafness, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,


HPO:

31
vohwinkel syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111339
OMIM® 57 124500
KEGG 36 H00714
SNOMED-CT 67 24559001
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C0265964
Orphanet 58 ORPHA494
MedGen 41 C0265964
UMLS 70 C0265964

Summaries for Vohwinkel Syndrome

MedlinePlus Genetics : 43 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss.The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.

MalaCards based summary : Vohwinkel Syndrome, also known as mutilating keratoderma, is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant and keratoderma, palmoplantar, with deafness. An important gene associated with Vohwinkel Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. Affiliated tissues include skin, spinal cord and endothelial, and related phenotypes are sensorineural hearing impairment and amniotic constriction ring

Disease Ontology : 12 A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has material basis in heterozygous mutation in GJB2 on chromosome 13q12.11.

GARD : 20 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.

OMIM® : 57 Classic Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses, and moderate degrees of sensorineural deafness (summary by Maestrini et al., 1999) (124500) (Updated 20-May-2021)

KEGG : 36 Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is the constriction bands of the digits, leading to autoamputation (pseudoainhum). Vohwinkel syndrome is caused by GJB2 mutations, and its variant that is linked to loricrin also has a feature of ichthyosis.

UniProtKB/Swiss-Prot : 72 Vohwinkel syndrome: An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.

Wikipedia : 73 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Related Diseases for Vohwinkel Syndrome

Diseases in the Vohwinkel Syndrome family:

Vohwinkel Syndrome, Variant Form

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 keratitis-ichthyosis-deafness syndrome, autosomal dominant 31.9 TGM1 GJB6 GJB2
2 keratoderma, palmoplantar, with deafness 31.8 GJB6 GJB4 GJB3 GJB2
3 keratosis 30.9 TGM1 LORICRIN GJB3 GJB2
4 palmoplantar keratosis 30.9 LORICRIN GJB4 GJB3 GJB2
5 ainhum 30.7 LORICRIN GJB4 GJB2
6 ichthyosis 30.7 TGM1 LORICRIN GJB6 GJB2
7 nonsyndromic hearing loss and deafness, dfnb1 30.4 GJB6 GJB3 GJB2
8 dfnb1 30.4 GJB6 GJB3 GJB2
9 pseudoainhum 30.4 LORICRIN GJB6 GJB4 GJB3 GJB2
10 ectodermal dysplasia 30.4 GJB6 GJB4 GJB3 GJB2
11 deafness, autosomal dominant 3a 30.2 GJB6 GJB4 GJB3 GJB2
12 erythrokeratoderma 29.9 LORICRIN GJB5 GJB4 GJB3 GJB2
13 bart-pumphrey syndrome 29.9 GJB6 GJB5 GJB4 GJB3 GJB2
14 skin disease 29.9 VIM TGM1 LORICRIN GJB6 GJB4 GJB3
15 vohwinkel syndrome, variant form 11.8
16 nonsyndromic hearing loss and deafness, dfna3 10.4 GJB6 GJB2
17 purulent labyrinthitis 10.3 GJB6 GJB2
18 labyrinthitis 10.3 GJB6 GJB2
19 viral labyrinthitis 10.3 GJB6 GJB2
20 congenital cytomegalovirus 10.3 GJB6 GJB2
21 nonsyndromic hearing loss 10.3 GJB6 GJB3 GJB2
22 hypotrichosis-deafness syndrome 10.3 GJB4 GJB3 GJB2
23 deafness, autosomal dominant 2b 10.3 GJB3 GJB2
24 deafness, autosomal dominant 3b 10.3 GJB6 GJB3 GJB2
25 hereditary lymphedema ic 10.3 GJB4 GJB3 GJB2
26 deafness, autosomal recessive 1b 10.3 GJB6 GJB3 GJB2
27 branchiootic syndrome 1 10.3
28 drug-induced hearing loss 10.3 GJB3 GJB2
29 vestibular disease 10.3 GJB6 GJB3 GJB2
30 x-linked nonsyndromic deafness 10.3 GJB6 GJB3 GJB2
31 deafness, autosomal dominant 9 10.3 GJB6 GJB3 GJB2
32 hereditary hearing loss and deafness 10.3 GJB6 GJB3 GJB2
33 deafness, x-linked 2 10.2 GJB6 GJB3 GJB2
34 deafness, autosomal recessive 12 10.2 GJB6 GJB3 GJB2
35 deafness, autosomal recessive 91 10.2 GJB3 GJB2
36 ichthyosis, congenital, autosomal recessive 4a 10.2 TGM1 LORICRIN
37 nevus, epidermal 10.2 GJB4 GJB3 GJB2
38 auditory system disease 10.2 GJB6 GJB3 GJB2
39 ifap syndrome 1, with or without bresheck syndrome 10.2 TGM1 GJB2
40 inner ear disease 10.2 GJB6 GJB3 GJB2
41 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.2 GJB6 GJB3 GJB2
42 knuckle pads 10.2 GJB6 GJB4 GJB3 GJB2
43 oculodentodigital dysplasia 10.2 GJB6 GJB4 GJB3 GJB2
44 deafness, autosomal recessive 1a 10.2 GJB6 GJB4 GJB3 GJB2
45 deafness, autosomal dominant 2a 10.2 GJB3 GJB2
46 autosomal dominant nonsyndromic deafness 10.2 GJB6 GJB3 GJB2
47 dyggve-melchior-clausen disease 10.2 STX5 GORASP1 GOLGA2
48 achondrogenesis 10.1 GORASP1 GOLGB1 GOLGA2
49 astroblastoma 10.1 VIM GJB2
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1

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



Diseases related to Vohwinkel Syndrome

Symptoms & Phenotypes for Vohwinkel Syndrome

Human phenotypes related to Vohwinkel Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 amniotic constriction ring 58 31 hallmark (90%) Very frequent (99-80%) HP:0009775
3 autoamputation of digits 58 31 hallmark (90%) Very frequent (99-80%) HP:0007460
4 honeycomb palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007465
5 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
6 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
7 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
8 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
9 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
10 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
11 papule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200034
12 abnormal toenail morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0008388
13 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
14 abnormality of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0002143
15 hearing impairment 58 31 Occasional (29-5%) HP:0000365
16 abnormality of the nail 58 Occasional (29-5%)
17 hyperkeratosis 58 Very frequent (99-80%)
18 hypogonadotrophic hypogonadism 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
autoamputation of digits
papular keratoderma, mild
honeycomb keratoderma
starfish-like acral keratoses (knuckles)
pseudoainhum

Head And Neck Ears:
hearing loss, mild to moderate

Skeletal Hands:
autoamputation
circular constrictions of digits (pseudoainhum)

Clinical features from OMIM®:

124500 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.53 GOLGA2 GOSR1 SAR1A VIM
2 Decreased viability GR00386-A-1 9.53 CANX GJB4 GJB5 GJB6 GOLGA2 LORICRIN
3 Decreased viability GR00402-S-2 9.53 GJB2 TGOLN2 VIM

Drugs & Therapeutics for Vohwinkel Syndrome

Search Clinical Trials , NIH Clinical Center for Vohwinkel Syndrome

Cochrane evidence based reviews: vohwinkel syndrome

Genetic Tests for Vohwinkel Syndrome

Genetic tests related to Vohwinkel Syndrome:

# Genetic test Affiliating Genes
1 Mutilating Keratoderma 29 GJB2

Anatomical Context for Vohwinkel Syndrome

MalaCards organs/tissues related to Vohwinkel Syndrome:

40
Skin, Spinal Cord, Endothelial, Lung

Publications for Vohwinkel Syndrome

Articles related to Vohwinkel Syndrome:

(show top 50) (show all 82)
# Title Authors PMID Year
1
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. 6 57 61 54
10369869 1999
2
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. 57 6
9326398 1997
3
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. 57 61
20854437 2011
4
Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies. 57 61
8010352 1994
5
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 6
17666888 2007
6
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 6
18294064 2007
7
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 6
12172392 2002
8
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 6
10713883 2000
9
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 6
10376574 1999
10
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 6
9328482 1997
11
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 6
9336442 1997
12
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 6
9285800 1997
13
Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism. 57
7748756 1995
14
Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase. 57
2976687 1988
15
Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin. 57
6237617 1984
16
Generalized spiny hyperkeratosis, universal alopecia, and deafness. A previously undescribed syndrome. 57
5365216 1969
17
Keratoma hereditaria mutilans (Vohwinkel). Differentiating features of conditions with constriction of digits. 57
5960366 1966
18
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 54 61
20236940 2010
19
Connexin-26 mutations in deafness and skin disease. 61 54
19939300 2009
20
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. 61 54
18688874 2009
21
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 54 61
17993581 2008
22
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. 54 61
17953701 2008
23
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. 61 54
17106596 2006
24
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 61 54
15482471 2004
25
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. 61 54
15140211 2004
26
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). 54 61
15102081 2004
27
Vohwinkel's syndrome in three generations. 61 54
11174420 2001
28
Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma. 54 61
11121146 2000
29
Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma. 54 61
11038186 2000
30
What's the resolutive surgery for pseudo-ainhum in Vohwinkel syndrome? A case report and review of the literature. 61
33633820 2020
31
A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies. 61
32866991 2020
32
Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case. 61
32705719 2020
33
G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome. 61
30565282 2019
34
Vohwinkel syndrome: ichthyosiform variant in a family. 61
33293125 2018
35
Vohwinkel syndrome: ichthyosiform variant in a family. 61
30156625 2018
36
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. 61
29204395 2017
37
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). 61
28591443 2017
38
Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome. 61
26871826 2016
39
A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome . 61
29485809 2016
40
[Ainhum and "African acral keratoderma": three cases]. 61
25624138 2015
41
Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype. 61
25050598 2015
42
Overview of skin diseases linked to connexin gene mutations. 61
23675785 2014
43
Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report. 61
24346921 2013
44
Vohwinkel syndrome with mental retardation. 61
23974601 2013
45
[Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet]. 61
23247752 2013
46
[Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome]. 61
23568736 2013
47
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. 61
22796187 2013
48
D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome. 61
22960825 2012
49
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia. 61
21198793 2011
50
A new variant of Vohwinkel syndrome: a case report. 61
21426869 2011

Variations for Vohwinkel Syndrome

ClinVar genetic disease variations for Vohwinkel Syndrome:

6 (show all 29)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic 44735 rs111033299 GRCh37: 13:20763438-20763438
GRCh38: 13:20189299-20189299
2 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
3 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic 163514 rs727503066 GRCh37: 13:20763342-20763342
GRCh38: 13:20189203-20189203
4 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic 550195 rs371024165 GRCh37: 13:20763627-20763627
GRCh38: 13:20189488-20189488
5 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
6 GJB2 NM_004004.6(GJB2):c.196G>C (p.Asp66His) SNV Pathogenic 17012 rs104894403 GRCh37: 13:20763525-20763525
GRCh38: 13:20189386-20189386
7 GJB2 NM_004004.6(GJB2):c.193T>C (p.Tyr65His) SNV Pathogenic 253134 rs886037849 GRCh37: 13:20763528-20763528
GRCh38: 13:20189389-20189389
8 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
9 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 GRCh37: 13:20763554-20763554
GRCh38: 13:20189415-20189415
10 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) SNV Pathogenic 188830 rs104894413 GRCh37: 13:20763590-20763590
GRCh38: 13:20189451-20189451
11 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 GRCh37: 13:20763104-20763104
GRCh38: 13:20188965-20188965
12 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 GRCh37: 13:20763582-20763582
GRCh38: 13:20189443-20189443
13 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
14 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
15 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
16 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 GRCh37: 13:20763490-20763490
GRCh38: 13:20189351-20189351
17 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 GRCh37: 13:20763720-20763720
GRCh38: 13:20189581-20189581
18 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
19 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) SNV Pathogenic 265481 rs774518779 GRCh37: 13:20763215-20763215
GRCh38: 13:20189076-20189076
20 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
21 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Pathogenic 17000 rs35887622 GRCh37: 13:20763620-20763620
GRCh38: 13:20189481-20189481
22 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 GRCh37: 13:20763687-20763687
GRCh38: 13:20189548-20189548
23 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Likely pathogenic 17023 rs72474224 GRCh37: 13:20763612-20763612
GRCh38: 13:20189473-20189473
24 GJB2 NM_004004.6(GJB2):c.*1291_*1294del Deletion Uncertain significance 311352 rs886050025 GRCh37: 13:20761746-20761749
GRCh38: 13:20187607-20187610
25 GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala) SNV Uncertain significance 177751 rs727504309 GRCh37: 13:20763533-20763533
GRCh38: 13:20189394-20189394
26 GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) SNV Uncertain significance 44765 rs111033194 GRCh37: 13:20763051-20763051
GRCh38: 13:20188912-20188912
27 GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) SNV Uncertain significance 44764 rs375599392 GRCh37: 13:20763058-20763058
GRCh38: 13:20188919-20188919
28 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Likely benign 17010 rs80338942 GRCh37: 13:20763554-20763554
GRCh38: 13:20189415-20189415
29 GJB2 NM_004004.5(GJB2):c.*1447G>A SNV Benign 369056 rs11839674 GRCh37: 13:20761593-20761593
GRCh38: 13:20187454-20187454

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

72
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Asp66His VAR_008710 rs104894403
2 GJB2 p.Gly130Val VAR_069522

Expression for Vohwinkel Syndrome

Search GEO for disease gene expression data for Vohwinkel Syndrome.

Pathways for Vohwinkel Syndrome

GO Terms for Vohwinkel Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.3 VIM TGOLN2 TGM1 STX5 NAPG LMAN1
2 Golgi apparatus GO:0005794 9.91 TGOLN2 STX5 SAR1A LMAN1 GOSR1 GORASP2
3 Golgi membrane GO:0000139 9.76 STX5 SAR1A LMAN1 GOSR1 GORASP2 GORASP1
4 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.63 LMAN1 GOLGB1 GJB2
5 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.62 STX5 LMAN1 GORASP1 GOLGA2
6 cis-Golgi network GO:0005801 9.61 GOSR1 GOLGB1 GOLGA2
7 SNARE complex GO:0031201 9.58 STX5 NAPG GOSR1
8 gap junction GO:0005921 9.35 GJB6 GJB5 GJB4 GJB3 GJB2
9 connexin complex GO:0005922 9.02 GJB6 GJB5 GJB4 GJB3 GJB2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.96 GJB6 GJB5 GJB4 GJB3 GJB2
2 protein transport GO:0015031 9.95 SAR1A NAPG LMAN1 GOSR1 GORASP1 GOLGA2
3 vesicle-mediated transport GO:0016192 9.8 STX5 SAR1A NAPG LMAN1 GOSR1
4 cell-cell signaling GO:0007267 9.77 GJB6 GJB5 GJB4 GJB3 GJB2
5 Golgi organization GO:0007030 9.65 LMAN1 GORASP2 GORASP1 GOLGB1 GOLGA2
6 COPII vesicle coating GO:0048208 9.62 STX5 LMAN1 GORASP1 GOLGA2
7 positive regulation of ubiquitin protein ligase activity GO:1904668 9.55 GORASP1 GOLGA2
8 early endosome to Golgi transport GO:0034498 9.54 STX5 LMAN1
9 gap junction assembly GO:0016264 9.52 GJB6 GJB2
10 Golgi disassembly GO:0090166 9.51 STX5 GOLGA2
11 cell communication by electrical coupling GO:0010644 9.49 GJB6 GJB2
12 epididymis development GO:1905867 9.46 GJB5 GJB2
13 establishment of protein localization to plasma membrane GO:0061951 9.43 GORASP2 GORASP1
14 cell communication GO:0007154 9.35 GJB6 GJB5 GJB4 GJB3 GJB2
15 gap junction-mediated intercellular transport GO:1990349 9.33 GJB6 GJB4 GJB2
16 ER to Golgi vesicle-mediated transport GO:0006888 9.17 STX5 SAR1A LMAN1 GOSR1 GORASP1 GOLGB1

Molecular functions related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 VIM TGOLN2 TGM1 STX5 SIM1 SAR1A
2 gap junction channel activity GO:0005243 9.02 GJB6 GJB5 GJB4 GJB3 GJB2
3 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2

Sources for Vohwinkel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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