MCID: DFN013
MIFTS: 22

Deafness Mixed with Perilymphatic Gusher, X-Linked

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Deafness Mixed with Perilymphatic Gusher, X-Linked

MalaCards integrated aliases for Deafness Mixed with Perilymphatic Gusher, X-Linked:

Name: Deafness Mixed with Perilymphatic Gusher, X-Linked 20
X-Linked Mixed Deafness with Perilymphatic Gusher 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


Summaries for Deafness Mixed with Perilymphatic Gusher, X-Linked

MalaCards based summary : Deafness Mixed with Perilymphatic Gusher, X-Linked, also known as x-linked mixed deafness with perilymphatic gusher, is related to branchiootic syndrome 1 and deafness, autosomal recessive 49. An important gene associated with Deafness Mixed with Perilymphatic Gusher, X-Linked is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Signaling in Gap Junctions. Related phenotype is hearing/vestibular/ear.

Related Diseases for Deafness Mixed with Perilymphatic Gusher, X-Linked

Diseases related to Deafness Mixed with Perilymphatic Gusher, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.4
2 deafness, autosomal recessive 49 9.9 POU3F4 GJB2
3 nonsyndromic hearing loss and deafness, dfna3 9.8 GJB6 GJB2
4 pseudoainhum 9.8 GJB6 GJB2
5 nonsyndromic hearing loss and deafness, dfnb1 9.8 GJB6 GJB2
6 dfnb1 9.8 GJB6 GJB2
7 purulent labyrinthitis 9.8 GJB6 GJB2
8 labyrinthitis 9.8 GJB6 GJB2
9 viral labyrinthitis 9.8 GJB6 GJB2
10 deafness, autosomal dominant 3b 9.8 GJB6 GJB2
11 congenital cytomegalovirus 9.8 GJB6 GJB2
12 deafness, autosomal dominant 3a 9.8 GJB6 GJB2
13 knuckle pads 9.8 GJB6 GJB2
14 rare genetic deafness 9.8 POU3F4 GJB2
15 bart-pumphrey syndrome 9.8 GJB6 GJB2
16 keratoderma, palmoplantar, with deafness 9.8 GJB6 GJB2
17 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.8 GJB6 GJB2
18 ichthyosis 9.8 GJB6 GJB2
19 palmoplantar keratoderma and congenital alopecia 1 9.8 GJB6 GJB2
20 vestibular disease 9.8 GJB6 GJB2
21 deafness, autosomal dominant 9 9.7 GJB6 GJB2
22 clouston syndrome 9.7 GJB6 GJB2
23 oculodentodigital dysplasia 9.7 GJB6 GJB2
24 deafness, autosomal recessive 1a 9.7 GJB6 GJB2
25 vohwinkel syndrome 9.7 GJB6 GJB2
26 deafness, autosomal recessive 12 9.7 GJB6 GJB2
27 erythrokeratodermia variabilis et progressiva 1 9.7 GJB6 GJB2
28 x-linked monogenic disease 9.7 POU3F4 GJB6
29 branchiootorenal syndrome 9.7 GJB6 GJB2
30 inner ear disease 9.7 GJB6 GJB2
31 keratitis, hereditary 9.7 GJB6 GJB2
32 autosomal recessive nonsyndromic deafness 9.6 GJB6 GJB2
33 deafness, autosomal recessive 1b 9.5 POU3F4 GJB6 GJB2
34 x-linked nonsyndromic deafness 9.5 POU3F4 GJB6 GJB2
35 hereditary hearing loss and deafness 9.5 POU3F4 GJB6 GJB2
36 deafness, x-linked 2 9.5 POU3F4 GJB6 GJB2
37 auditory system disease 9.5 POU3F4 GJB6 GJB2
38 nonsyndromic hearing loss 9.5 POU3F4 GJB6 GJB2
39 pendred syndrome 9.5 POU3F4 GJB6 GJB2
40 usher syndrome, type i 9.5 GJB6 GJB2
41 waardenburg's syndrome 9.5 POU3F4 GJB6 GJB2
42 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 POU3F4 GJB6 GJB2
43 autosomal dominant nonsyndromic deafness 9.5 POU3F4 GJB6 GJB2
44 usher syndrome 9.5 POU3F4 GJB6 GJB2
45 sensorineural hearing loss 9.4 POU3F4 GJB6 GJB2
46 ectodermal dysplasia 9.4 GJB6 GJB2

Graphical network of the top 20 diseases related to Deafness Mixed with Perilymphatic Gusher, X-Linked:



Diseases related to Deafness Mixed with Perilymphatic Gusher, X-Linked

Symptoms & Phenotypes for Deafness Mixed with Perilymphatic Gusher, X-Linked

MGI Mouse Phenotypes related to Deafness Mixed with Perilymphatic Gusher, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 GJB2 GJB6 POU3F4

Drugs & Therapeutics for Deafness Mixed with Perilymphatic Gusher, X-Linked

Search Clinical Trials , NIH Clinical Center for Deafness Mixed with Perilymphatic Gusher, X-Linked

Genetic Tests for Deafness Mixed with Perilymphatic Gusher, X-Linked

Anatomical Context for Deafness Mixed with Perilymphatic Gusher, X-Linked

Publications for Deafness Mixed with Perilymphatic Gusher, X-Linked

Articles related to Deafness Mixed with Perilymphatic Gusher, X-Linked:

# Title Authors PMID Year
1
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. 6
23606368 2013
2
Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation. 6
23076972 2013
3
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. 6
9298820 1997
4
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. 6
7581392 1995
5
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. 6
7839145 1995
6
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. 6
1783396 1991
7
Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. 61
9109724 1997
8
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. 61
2491012 1989

Variations for Deafness Mixed with Perilymphatic Gusher, X-Linked

ClinVar genetic disease variations for Deafness Mixed with Perilymphatic Gusher, X-Linked:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POU3F4 NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) SNV Pathogenic 11680 rs104894922 GRCh37: X:82764332-82764332
GRCh38: X:83509324-83509324
2 POU3F4 NM_000307.5(POU3F4):c.862_865del (p.Val289fs) Deletion Pathogenic 11681 rs730882189 GRCh37: X:82764191-82764194
GRCh38: X:83509183-83509186
3 POU3F4 NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) SNV Pathogenic 11682 rs387906502 GRCh37: X:82764267-82764267
GRCh38: X:83509259-83509259
4 POU3F4 NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) SNV Pathogenic 11683 rs104894923 GRCh37: X:82764322-82764322
GRCh38: X:83509314-83509314
5 POU3F4 NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) SNV Pathogenic 11684 rs104894924 GRCh37: X:82764299-82764299
GRCh38: X:83509291-83509291
6 POU3F4 NM_000307.5(POU3F4):c.950dup (p.Leu317fs) Duplication Pathogenic 41457 rs398122516 GRCh37: X:82764280-82764281
GRCh38: X:83509272-83509273
7 POU3F4 NM_000307.5(POU3F4):c.1060del (p.Thr354fs) Deletion Pathogenic 41458 rs398122517 GRCh37: X:82764389-82764389
GRCh38: X:83509381-83509381
8 POU3F4 NM_000307.4(POU3F4):c.896delA (p.Lys299Serfs) Deletion Pathogenic 156303 rs267606974 GRCh37: X:82764227-82764227
GRCh38: X:83509219-83509219
9 POU3F4 NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter) SNV Pathogenic 236062 rs878853242 GRCh37: X:82763567-82763567
GRCh38: X:83508559-83508559
10 POU3F4 NM_000307.5(POU3F4):c.877C>G (p.Leu293Val) SNV Pathogenic 417622 rs780027419 GRCh37: X:82764209-82764209
GRCh38: X:83509201-83509201
11 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic 44735 rs111033299 GRCh37: 13:20763438-20763438
GRCh38: 13:20189299-20189299
12 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
13 POU3F4 NM_000307.5(POU3F4):c.249dup (p.Gly84fs) Duplication Pathogenic 560726 rs1569280138 GRCh37: X:82763578-82763579
GRCh38: X:83508570-83508571
14 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic 163514 rs727503066 GRCh37: 13:20763342-20763342
GRCh38: 13:20189203-20189203
15 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
16 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
17 POU3F4 NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) Deletion Pathogenic 43352 rs397516336 GRCh37: X:82764185-82764186
GRCh38: X:83509177-83509178
18 POU3F4 NM_000307.5(POU3F4):c.603_606CAAA[1] (p.Gln203fs) Microsatellite Pathogenic 228391 rs876657719 GRCh37: X:82763935-82763938
GRCh38: X:83508927-83508930
19 POU3F4 NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) SNV Pathogenic 402272 rs1060499806 GRCh37: X:82764177-82764177
GRCh38: X:83509169-83509169
20 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) SNV Pathogenic 188830 rs104894413 GRCh37: 13:20763590-20763590
GRCh38: 13:20189451-20189451
21 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 GRCh37: 13:20763582-20763582
GRCh38: 13:20189443-20189443
22 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
23 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
24 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 GRCh37: 13:20763490-20763490
GRCh38: 13:20189351-20189351
25 POU3F4 NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter) SNV Pathogenic 627470 rs1454033665 GRCh37: X:82763502-82763502
GRCh38: X:83508494-83508494
26 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic 550195 rs371024165 GRCh37: 13:20763627-20763627
GRCh38: 13:20189488-20189488
27 POU3F4 NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter) SNV Pathogenic 599350 rs1569280385 GRCh37: X:82764307-82764307
GRCh38: X:83509299-83509299
28 POU3F4 NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp) SNV Pathogenic 11679 rs104894921 GRCh37: X:82764282-82764282
GRCh38: X:83509274-83509274
29 POU3F4 NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) SNV Pathogenic 11678 rs104894920 GRCh37: X:82763936-82763936
GRCh38: X:83508928-83508928
30 POU3F4 NM_000307.5(POU3F4):c.648del (p.Leu217fs) Deletion Pathogenic 11677 rs1555984570 GRCh37: X:82763977-82763977
GRCh38: X:83508969-83508969
31 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) SNV Pathogenic 265481 rs774518779 GRCh37: 13:20763215-20763215
GRCh38: 13:20189076-20189076
32 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
33 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
34 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 GRCh37: 13:20763720-20763720
GRCh38: 13:20189581-20189581
35 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 GRCh37: 13:20763104-20763104
GRCh38: 13:20188965-20188965
36 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 GRCh37: 13:20763687-20763687
GRCh38: 13:20189548-20189548
37 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Likely pathogenic 17023 rs72474224 GRCh37: 13:20763612-20763612
GRCh38: 13:20189473-20189473
38 POU3F4 NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe) SNV Uncertain significance 913161 GRCh37: X:82763723-82763723
GRCh38: X:83508715-83508715
39 POU3F4 NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu) SNV Uncertain significance 913162 GRCh37: X:82763862-82763862
GRCh38: X:83508854-83508854
40 POU3F4 NM_000307.5(POU3F4):c.585A>G (p.Glu195=) SNV Uncertain significance 913163 GRCh37: X:82763917-82763917
GRCh38: X:83508909-83508909
41 POU3F4 NM_000307.5(POU3F4):c.*141T>C SNV Uncertain significance 368735 rs368408951 GRCh37: X:82764559-82764559
GRCh38: X:83509551-83509551
42 GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala) SNV Uncertain significance 177751 rs727504309 GRCh37: 13:20763533-20763533
GRCh38: 13:20189394-20189394
43 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) SNV Uncertain significance 426683 rs750540794 GRCh37: 13:20797441-20797441
GRCh38: 13:20223302-20223302
44 POU3F4 NM_000307.5(POU3F4):c.*41C>A SNV Uncertain significance 368733 rs1057516008 GRCh37: X:82764459-82764459
GRCh38: X:83509451-83509451
45 POU3F4 NM_000307.5(POU3F4):c.*192T>C SNV Uncertain significance 368736 rs775863791 GRCh37: X:82764610-82764610
GRCh38: X:83509602-83509602
46 GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) SNV Uncertain significance 44765 rs111033194 GRCh37: 13:20763051-20763051
GRCh38: 13:20188912-20188912
47 GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) SNV Uncertain significance 44764 rs375599392 GRCh37: 13:20763058-20763058
GRCh38: 13:20188919-20188919
48 POU3F4 NM_000307.5(POU3F4):c.*297T>C SNV Uncertain significance 914803 GRCh37: X:82764715-82764715
GRCh38: X:83509707-83509707
49 POU3F4 NM_000307.5(POU3F4):c.24C>T (p.Pro8=) SNV Likely benign 811912 rs756362293 GRCh37: X:82763356-82763356
GRCh38: X:83508348-83508348
50 POU3F4 NM_000307.5(POU3F4):c.*105C>T SNV Likely benign 368734 rs777244703 GRCh37: X:82764523-82764523
GRCh38: X:83509515-83509515

Expression for Deafness Mixed with Perilymphatic Gusher, X-Linked

Search GEO for disease gene expression data for Deafness Mixed with Perilymphatic Gusher, X-Linked.

Pathways for Deafness Mixed with Perilymphatic Gusher, X-Linked

Pathways related to Deafness Mixed with Perilymphatic Gusher, X-Linked according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 GJB6 GJB2
2 11.17 GJB6 GJB2
3
Show member pathways
10.61 GJB6 GJB2

GO Terms for Deafness Mixed with Perilymphatic Gusher, X-Linked

Cellular components related to Deafness Mixed with Perilymphatic Gusher, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJB6 GJB2
2 connexin complex GO:0005922 8.62 GJB6 GJB2

Biological processes related to Deafness Mixed with Perilymphatic Gusher, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.46 GJB6 GJB2
2 aging GO:0007568 9.43 GJB6 GJB2
3 response to lipopolysaccharide GO:0032496 9.4 GJB6 GJB2
4 cell communication GO:0007154 9.37 GJB6 GJB2
5 sensory perception of sound GO:0007605 9.33 POU3F4 GJB6 GJB2
6 gap junction assembly GO:0016264 9.32 GJB6 GJB2
7 cell communication by electrical coupling GO:0010644 9.26 GJB6 GJB2
8 gap junction-mediated intercellular transport GO:1990349 8.96 GJB6 GJB2
9 inner ear development GO:0048839 8.8 POU3F4 GJB6 GJB2

Molecular functions related to Deafness Mixed with Perilymphatic Gusher, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.96 GJB6 GJB2
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.62 GJB6 GJB2

Sources for Deafness Mixed with Perilymphatic Gusher, X-Linked

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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