MCID: ATS252
MIFTS: 31

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Categories: Ear diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MalaCards integrated aliases for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

Name: Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 58 6
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb 58
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb 58
Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive non-syndromic sensorineural deafness type dfnb
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases


External Ids:

ICD10 via Orphanet 33 H90.3
Orphanet 58 ORPHA90636

Summaries for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MalaCards based summary : Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb, also known as autosomal recessive non-syndromic neurosensory deafness type dfnb, is related to deafness, autosomal recessive 8 and deafness, autosomal recessive 7. An important gene associated with Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb is GPSM2 (G Protein Signaling Modulator 2). Affiliated tissues include eye, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Diseases related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 57, show less)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 8 10.8 SLC26A4 LOXHD1
2 deafness, autosomal recessive 7 10.8 SLC26A4 CDH23
3 deafness, autosomal recessive 83 10.7 SLC26A4 GPSM2 CDH23
4 deafness, autosomal recessive 77 10.7 SLC26A4 LOXHD1 CDH23
5 deafness, autosomal dominant 2b 10.7 SLC26A4 ESPN CABP2
6 autosomal recessive nonsyndromic deafness 32 10.7 GPSM2 CDC14A
7 usher syndrome, type ik 10.7 CIB2 CDH23
8 autosomal recessive nonsyndromic deafness 3 10.7 SLC26A4 EPS8 CDH23
9 usher syndrome, type ih 10.7 CIB2 CDH23
10 deafness, autosomal dominant 43 10.7 ELMOD3 CABP2
11 baraitser-winter syndrome 10.7 SLC26A4 CIB2 CDH23
12 deafness, autosomal recessive 2 10.7 SLC26A4 CIB2 CDH23
13 autosomal recessive nonsyndromic deafness 10.7 SLC26A4 GPSM2 ELMOD3 CDH23
14 usher syndrome, type id 10.7 SLC26A4 CIB2 CDH23
15 deafness, autosomal recessive 12 10.7 SLC26A4 CEACAM16 CDH23
16 deafness, autosomal recessive 84b 10.7 COL11A2 CEACAM16
17 deafness, autosomal recessive 106 10.7 EPS8L2 EPS8
18 rare genetic deafness 10.7 SLC26A4 MYH9 LOXHD1 GPSM2 CDH23
19 hypomagnesemia 5, renal, with or without ocular involvement 10.7 CLDN14 BSND
20 usher syndrome, type iid 10.7 EPS8 CIB2 CDH23
21 autosomal dominant non-syndromic sensorineural deafness type dfna 10.7 MYH9 COL11A2 CEACAM16
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.7 SLC26A4 LOXHD1 COL11A2 CDH23
23 deafness, autosomal recessive 66 10.7 DCDC2 COL11A2 CEACAM16
24 branchiootic syndrome 1 10.7 SLC26A4 LOXHD1 GPSM2 EPS8 CDH23
25 deafness, autosomal recessive 102 10.7 EPS8 CLIC5
26 deafness, autosomal recessive 53 10.7 COL11A2 CEACAM16
27 deafness, autosomal dominant 13 10.7 COL11A2 CEACAM16
28 inner ear disease 10.7 SLC26A4 MYH9 CDH23
29 usher syndrome, type ij 10.7 CIB2 CDH23
30 usher syndrome, type i 10.7 SLC26A4 ESPN CIB2 CDH23
31 usher syndrome 10.7 SLC26A4 MYH9 ESPN CIB2 CDH23
32 deafness, autosomal recessive 39 10.7 LOXHD1 CLDN14
33 deafness, autosomal dominant 2a 10.7 ESPN BSND
34 perrault syndrome 10.7 CLDN14 CEACAM16 CDH23
35 hereditary hearing loss and deafness 10.7 ESPN COL11A2 CLDN14 CDH23 BSND
36 deafness, autosomal recessive 28 10.7 ESPN CABP2
37 deafness, autosomal dominant 36 10.7 SLC26A4 CDH23
38 usher syndrome type 2 10.7 SLC26A4 ESPN EPS8 CIB2 CDH23
39 deafness, autosomal recessive 10.7 LOXHD1 ESPN DCDC2 CIB2 CDC14A
40 deafness, autosomal recessive 84a 10.6 DCDC2 CDH23
41 deafness, autosomal dominant 20 10.6 ESPN CDH23
42 deafness, autosomal recessive 22 10.6 CEACAM16 CDH23
43 deafness, autosomal dominant 6 10.6 SLC26A4 COL11A2
44 deafness, autosomal recessive 30 10.6 ESPN EPS8
45 auditory system disease 10.6 SLC26A4 ESPN COL11A2 CLDN14 CIB2 CDH23
46 deafness, autosomal dominant 4b 10.6 COL11A2 CEACAM16
47 deafness, autosomal dominant 15 10.6 COL11A2 CLIC5
48 deafness, autosomal dominant 12 10.6 COL11A2 CEACAM16
49 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.5 COL11A2 CEACAM16
50 sensorineural hearing loss 10.5 SLC26A4 MYH9 ESPN COL11A2 CLDN14 CIB2
51 usher syndrome, type if 10.5 CIB2 CDH23
52 autosomal dominant nonsyndromic deafness 10.5 SLC26A4 MYH9 ESPN ELMOD3 COL11A2 CLDN14
53 hodgkin's lymphoma, nodular sclerosis 10.5 SLC26A4 CDH23
54 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.4 SLC26A4 BSND
55 nonsyndromic deafness 10.4 SLC26A4 MYH9 LOXHD1 GPSM2 ESPN ELMOD3
56 vestibular disease 10.4 SLC26A4 CDH23
57 usher syndrome, type iia 10.2 SLC26A4 CDH23

Graphical network of the top 20 diseases related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:



Diseases related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Symptoms & Phenotypes for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MGI Mouse Phenotypes related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

45 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADCY1 BSND CDH23 CEACAM16 CIB2 CLDN14
2 hearing/vestibular/ear MP:0005377 9.8 BSND CABP2 CDH23 CEACAM16 CIB2 CLDN14
3 nervous system MP:0003631 9.47 ADCY1 BSND CABP2 CDH23 CIB2 CLDN14

Drugs & Therapeutics for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Genetic Tests for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Anatomical Context for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MalaCards organs/tissues related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

40
Eye

Publications for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Articles related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

(showing 220, show less)
# Title Authors PMID Year
1
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. 6
29572253 2018
2
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. 6
29408807 2018
3
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. 6
29048421 2018
4
CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 6
29293958 2018
5
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 6
27736875 2016
6
Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia. 6
27766948 2016
7
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 6
27259055 2016
8
A Mayan founder mutation is a common cause of deafness in Guatemala. 6
26346709 2016
9
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 6
26805784 2016
10
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. 6
25941349 2015
11
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 6
25633957 2015
12
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. 6
25601850 2015
13
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. 6
24781754 2015
14
TBC1D24-Related Disorders 6
25719194 2015
15
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 6
25262649 2014
16
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. 6
24958875 2014
17
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. 6
24482543 2014
18
A frameshift mutation in GRXCR2 causes recessively inherited hearing loss. 6
24619944 2014
19
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. 6
24785414 2014
20
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. 6
24741995 2014
21
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 6
24387994 2014
22
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. 6
24164807 2013
23
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. 6
23173898 2013
24
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 6
23768514 2013
25
The LINC complex is essential for hearing. 6
23348741 2013
26
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. 6
24039609 2013
27
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. 6
23122586 2012
28
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. 6
23122587 2012
29
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. 6
23084290 2012
30
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 6
23023331 2012
31
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. 6
22575033 2012
32
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
33
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. 6
22981119 2012
34
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 6
22678063 2012
35
DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3. 6
22211675 2012
36
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. 6
22246673 2012
37
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 6
21660509 2011
38
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect. 6
21776002 2011
39
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. 6
21465660 2011
40
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2. 6
21181198 2011
41
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. 6
21165622 2011
42
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. 6
21255762 2011
43
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. 6
21326233 2011
44
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. 6
21185009 2011
45
A large cohort study of GJB2 mutations in Japanese hearing loss patients. 6
20497192 2010
46
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. 6
20236118 2010
47
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. 6
20132242 2010
48
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. 6
20451170 2010
49
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. 6
20346435 2010
50
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 6
19888295 2010
51
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. 6
20170898 2010
52
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. 6
20170899 2010
53
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. 6
20137778 2010
54
DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15. 6
19650862 2009
55
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. 6
19732867 2009
56
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. 6
19576567 2009
57
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 6
19375528 2009
58
A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. 6
19438934 2009
59
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. 6
19426954 2009
60
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. 6
19107147 2009
61
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 6
19204907 2009
62
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. 6
18985073 2009
63
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. 6
19215054 2009
64
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. 6
19050930 2009
65
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. 6
18953341 2008
66
Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population. 6
18925674 2008
67
A catechol-O-methyltransferase that is essential for auditory function in mice and humans. 6
18794526 2008
68
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 6
18285825 2008
69
Heterogeneity in the processing defect of SLC26A4 mutants. 6
18310264 2008
70
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. 6
18381613 2008
71
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. 6
18324688 2008
72
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 6
18181211 2008
73
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 6
17993581 2008
74
OTOF-Related Deafness 6
20301429 2008
75
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness. 6
17851452 2008
76
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. 6
18179891 2008
77
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. 6
18084694 2008
78
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. 6
17877751 2007
79
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 6
17690910 2007
80
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. 6
17660464 2007
81
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. 6
17935238 2007
82
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. 6
17853461 2007
83
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. 6
17546645 2007
84
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. 6
17850630 2007
85
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 6
17718863 2007
86
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. 6
17718865 2007
87
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. 6
17373699 2007
88
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. 6
17301963 2007
89
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 6
17503324 2007
90
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 6
17226784 2007
91
The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. 6
17505205 2007
92
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. 6
17329413 2007
93
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. 6
17443271 2007
94
Tricellulin is a tight-junction protein necessary for hearing. 6
17186462 2006
95
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. 6
16840571 2006
96
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. 6
17041943 2006
97
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. 6
17036313 2006
98
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. 6
16703383 2006
99
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. 6
16459341 2006
100
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. 6
16804542 2006
101
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 6
16752389 2006
102
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. 6
16371502 2006
103
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. 6
16773579 2006
104
High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2. 6
16650079 2006
105
Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? 6
16868655 2006
106
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. 6
16385458 2006
107
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. 6
16385457 2006
108
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 6
16033917 2005
109
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 6
16021470 2005
110
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. 6
16088916 2005
111
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss. 6
16086836 2005
112
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. 6
15994881 2005
113
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. 6
15880785 2005
114
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. 6
15841483 2005
115
Modification of human hearing loss by plasma-membrane calcium pump PMCA2. 6
15829536 2005
116
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. 6
15633193 2005
117
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 6
15689455 2005
118
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. 6
15679828 2005
119
A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. 6
15641023 2005
120
A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family. 6
16244493 2005
121
Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population. 6
15638823 2005
122
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. 6
15592461 2005
123
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 6
15286153 2004
124
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. 6
15253766 2004
125
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. 6
14694360 2004
126
A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 6
14985372 2004
127
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. 6
14735592 2004
128
DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. 6
15583425 2004
129
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. 6
14570705 2003
130
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 6
14508505 2003
131
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. 6
14571368 2003
132
Elevated frequencies of the 35delG allele of the connexin 26 gene in Corsica, France. 6
14986832 2003
133
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. 6
14505035 2003
134
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. 6
12974744 2003
135
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. 6
12910270 2003
136
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. 6
12833159 2003
137
Connexin 26 35delG does not represent a mutational hotspot. 6
12684873 2003
138
Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. 6
12833397 2003
139
Low prevalence of the deafness-associated 35delG mutation in the connexin-26 (GJB2) gene in a Sicilian population. 6
12786762 2003
140
Mutations of MYO6 are associated with recessive deafness, DFNB37. 6
12687499 2003
141
Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. 6
12642503 2003
142
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. 6
12719379 2003
143
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. 6
12560944 2003
144
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1. 6
12634867 2003
145
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. 6
12522556 2003
146
Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function. 6
12384501 2003
147
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 6
12529709 2003
148
Selection for deafness? 6
12457154 2002
149
The prevalence of connexin 26 ( GJB2) mutations in the Chinese population. 6
12384781 2002
150
Exploring the clinical and epidemiological complexity of GJB2-linked deafness. 6
12239718 2002
151
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. 6
12145746 2002
152
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 6
12075507 2002
153
Hearing loss: frequency and functional studies of the most common connexin26 alleles. 6
12176036 2002
154
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 6
12172392 2002
155
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. 6
12127154 2002
156
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. 6
12136232 2002
157
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. 6
12114484 2002
158
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. 6
12107438 2002
159
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss. 6
12121355 2002
160
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients. 6
12081719 2002
161
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. 6
12032315 2002
162
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. 6
11972037 2002
163
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. 6
11973626 2002
164
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 6
11850618 2002
165
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. 6
11935342 2002
166
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 6
11907649 2002
167
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. 6
11807148 2002
168
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 6
11687802 2001
169
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. 6
11735029 2001
170
Connexin 26 studies in patients with sensorineural hearing loss. 6
11556849 2001
171
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. 6
11462234 2001
172
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. 6
11483639 2001
173
From DFNB2 to Usher syndrome: variable expressivity of the same disease. 6
11391666 2001
174
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 6
11313763 2001
175
On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe. 6
11313751 2001
176
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. 6
11134236 2001
177
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. 6
11163249 2001
178
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. 6
11137999 2001
179
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 6
11090341 2001
180
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. 6
11101839 2000
181
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. 6
10903124 2000
182
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. 6
10903123 2000
183
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. 6
10878664 2000
184
Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation. 6
10782932 2000
185
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. 6
10757647 2000
186
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. 6
10982180 2000
187
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 6
10713883 2000
188
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. 6
10982182 2000
189
Prevalent connexin 26 gene (GJB2) mutations in Japanese. 6
10633133 2000
190
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. 6
10607953 2000
191
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 6
10376574 1999
192
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. 6
10422812 1999
193
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. 6
10192385 1999
194
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. 6
10190331 1999
195
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
196
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. 6
9819448 1998
197
Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct 6
20301640 1998
198
Nonsyndromic Hearing Loss and Deafness, DFNB1 6
20301449 1998
199
Connexin mutations in deafness. 6
9716127 1998
200
Transient deafness due to temperature-sensitive auditory neuropathy. 6
9657592 1998
201
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 6
9603736 1998
202
Connexin 26 gene linked to a dominant deafness. 6
9620796 1998
203
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 6
9529365 1998
204
A mutation in PDS causes non-syndromic recessive deafness. 6
9500541 1998
205
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. 6
9471561 1998
206
Connexin-26 mutations in sporadic and inherited sensorineural deafness. 6
9482292 1998
207
Connexin mutations and hearing loss. 6
9422505 1998
208
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 6
9328482 1997
209
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 6
9285800 1997
210
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. 6
9286457 1997
211
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. 6
9171832 1997
212
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 6
9171833 1997
213
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 6
9139825 1997
214
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. 6
8789457 1996
215
An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6. 6
8593615 1995
216
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. 6
7704031 1995
217
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. 6
7951250 1994
218
Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers. 6
2706105 1989
219
Palmoplantar keratoderma, deafness and atopy. 6
2956987 1987
220
RECESSIVE TOTAL ALBINISM AND CONGENITAL DEAF-MUTISM. 6
14070830 1964

Variations for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

ClinVar genetic disease variations for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

6 (showing 5, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPSM2 NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)SNV Pathogenic 1823 rs267606854 1:109440214-109440214 1:108897592-108897592
2 SLC26A4 NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs)duplication Pathogenic 267322 rs1554358720 7:107330580-107330581 7:107690135-107690136
3 GPSM2 NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)SNV Pathogenic 402258 rs1060499797 1:109445771-109445771 1:108903149-108903149
4 MYH9 NM_002473.5(MYH9):c.5137A>G (p.Ser1713Gly)SNV Pathogenic 402285 rs764139009 22:36681924-36681924 22:36285878-36285878
5 LOXHD1 NM_144612.6(LOXHD1):c.3061+1G>ASNV Pathogenic/Likely pathogenic 523622 rs537227442 18:44140045-44140045 18:46560082-46560082

Expression for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Search GEO for disease gene expression data for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb.

Pathways for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

GO Terms for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Cellular components related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.23 SLC26A4 MYH9 GPSM2 EPS8L2 EPS8 CLIC5
2 cytoskeleton GO:0005856 9.98 MYH9 GPSM2 ESPN ELMOD3 DCDC2 CLIC5
3 cell projection GO:0042995 9.92 LOXHD1 ESPN EPS8L2 EPS8 ELMOD3 DCDC2
4 cell cortex GO:0005938 9.67 MYH9 GPSM2 EPS8 CLIC5
5 brush border GO:0005903 9.58 MYH9 ESPN EPS8
6 stereocilium bundle GO:0032421 9.43 ESPN EPS8L2 EPS8
7 stereocilium tip GO:0032426 9.35 ESPN EPS8L2 EPS8 CEACAM16 CDC14A
8 kinocilium GO:0060091 9.33 ELMOD3 DCDC2 CDC14A
9 stereocilium GO:0032420 9.23 LOXHD1 ESPN EPS8L2 EPS8 ELMOD3 CIB2

Biological processes related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.36 SLC26A4 LOXHD1 ESPN EPS8L2 DCDC2 COL11A2
2 positive regulation of ruffle assembly GO:1900029 9.16 EPS8L2 EPS8
3 chloride transmembrane transport GO:1902476 9.13 SLC26A4 CLIC5 BSND

Molecular functions related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 Rac guanyl-nucleotide exchange factor activity GO:0030676 8.62 EPS8L2 EPS8

Sources for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

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