MCID: DFN136
MIFTS: 36

Deafness, Autosomal Dominant 9

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases, Cardiovascular diseases, Blood diseases

Aliases & Classifications for Deafness, Autosomal Dominant 9

MalaCards integrated aliases for Deafness, Autosomal Dominant 9:

Name: Deafness, Autosomal Dominant 9 53 28 13 69
Dfna9 53 12 71
Autosomal Dominant Nonsyndromic Deafness 9 12 14
Deafness, Autosomal Dominant, 9 71
Autosomal Dominant Deafness 9 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in young adulthood
progressive disorder


HPO:

31
deafness, autosomal dominant 9:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive young adult onset


Classifications:



External Ids:

OMIM 53 601369
Disease Ontology 12 DOID:0110593
ICD10 32 H90.3
MedGen 39 C1832425
MeSH 41 D006319
UMLS 69 C1832425

Summaries for Deafness, Autosomal Dominant 9

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, 9: A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.

MalaCards based summary : Deafness, Autosomal Dominant 9, also known as dfna9, is related to nonsyndromic deafness and branchiootic syndrome 1, and has symptoms including vertigo, tinnitus and abnormality of the vestibulocochlear nerve. An important gene associated with Deafness, Autosomal Dominant 9 is COCH (Cochlin). Affiliated tissues include bone, and related phenotype is hearing/vestibular/ear.

OMIM : 53 DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by Robertson et al., 2006). (601369)

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has material basis in mutation in the COCH gene on chromosome 14q12.

Related Diseases for Deafness, Autosomal Dominant 9

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Recessive 105 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Diseases related to Deafness, Autosomal Dominant 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 29.0 COCH POU4F3 STRC
2 branchiootic syndrome 1 10.3
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 peripheral vertigo 10.0 COCH FAM136A
5 deafness, autosomal dominant 11 10.0 FAM136A POU4F3
6 vestibular disease 10.0 COCH FAM136A
7 deafness, autosomal dominant 15 10.0 FAM136A POU4F3
8 vestibulocochlear dysfunction, progressive 9.9
9 sensorineural hearing loss 9.9
10 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 COCH POU4F3
11 non-syndromic genetic deafness 9.8 COCH STRC
12 autosomal dominant nonsyndromic deafness 9.7 COCH FAM136A POU4F3
13 meniere disease 9.7 COCH FAM136A SLC44A2
14 deafness, autosomal recessive 16 9.7 COCH STRC
15 deafness, autosomal dominant 6 9.5 COCH POU4F3 STRC
16 auditory system disease 9.5 COCH POU4F3 STRC
17 deafness, autosomal dominant 13 9.4 COCH STRC

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 9:



Diseases related to Deafness, Autosomal Dominant 9

Symptoms & Phenotypes for Deafness, Autosomal Dominant 9

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, postlingual
vestibular involvement (variable)
vertigo
tinnitus
downward sloping audiogram
more

Clinical features from OMIM:

601369

Human phenotypes related to Deafness, Autosomal Dominant 9:

31
# Description HPO Frequency HPO Source Accession
1 vertigo 31 HP:0002321
2 tinnitus 31 HP:0000360
3 abnormality of the vestibulocochlear nerve 31 HP:0009591
4 cochlear degeneration 31 HP:0005102
5 postlingual sensorineural hearing impairment 31 HP:0008596

UMLS symptoms related to Deafness, Autosomal Dominant 9:


vertigo, tinnitus

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 9:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 COCH POU4F3 SLC44A2 STRC

Drugs & Therapeutics for Deafness, Autosomal Dominant 9

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 9

Genetic Tests for Deafness, Autosomal Dominant 9

Genetic tests related to Deafness, Autosomal Dominant 9:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 9 28 COCH

Anatomical Context for Deafness, Autosomal Dominant 9

MalaCards organs/tissues related to Deafness, Autosomal Dominant 9:

38
Bone

Publications for Deafness, Autosomal Dominant 9

Articles related to Deafness, Autosomal Dominant 9:

(show all 32)
# Title Authors Year
1
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. ( 28099493 )
2017
2
Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH. ( 28116169 )
2016
3
Distinct vestibular phenotypes in DFNA9 families with COCH variants. ( 26758463 )
2016
4
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. ( 26631968 )
2016
5
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion. ( 26256111 )
2015
6
Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice. ( 25049087 )
2014
7
Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder. ( 25230692 )
2014
8
Focal sclerosis of semicircular canals with severe DFNA9 hearing impairment caused by a P51S COCH-mutation: is there a link? ( 24662630 )
2014
9
Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family. ( 23993205 )
2013
10
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y. ( 22931125 )
2013
11
Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation. ( 21774451 )
2011
12
Role of protein misfolding in DFNA9 hearing loss. ( 20228067 )
2010
13
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss. ( 21046548 )
2010
14
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. ( 18312449 )
2008
15
Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W. ( 17264471 )
2007
16
Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9). ( 16835921 )
2006
17
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. ( 16481359 )
2006
18
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. ( 16151339 )
2005
19
A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. ( 16261627 )
2005
20
Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder. ( 16078052 )
2005
21
Identification of a novel Cochlin isoform in the perilymph: insights to Cochlin function and the pathogenesis of DFNA9. ( 14733925 )
2004
22
Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. ( 12928864 )
2003
23
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. ( 12843317 )
2003
24
Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. ( 11709536 )
2001
25
Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. ( 11295836 )
2001
26
Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family. ( 11843927 )
2001
27
NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. ( 11574466 )
2001
28
DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear. ( 10942145 )
2000
29
Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9). ( 10891988 )
2000
30
Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9. ( 10499067 )
1999
31
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. ( 9806553 )
1998
32
Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. ( 9441737 )
1997

Variations for Deafness, Autosomal Dominant 9

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 9:

71 (show all 14)
# Symbol AA change Variation ID SNP ID
1 COCH p.Pro51Ser VAR_008532 rs28938175
2 COCH p.Val66Gly VAR_008533 rs121908927
3 COCH p.Gly88Glu VAR_008534 rs121908928
4 COCH p.Ile109Asn VAR_008535 rs121908930
5 COCH p.Trp117Arg VAR_008536 rs121908929
6 COCH p.Ala119Thr VAR_017175 rs121908931
7 COCH p.Cys162Tyr VAR_070034
8 COCH p.Gly87Val VAR_072249
9 COCH p.Gly87Trp VAR_072250
10 COCH p.Ile109Thr VAR_072251
11 COCH p.Met512Thr VAR_072252 rs121908934
12 COCH p.Phe527Cys VAR_072253
13 COCH p.Cys542Tyr VAR_072254 rs121908932
14 COCH p.Gly38Asp VAR_079876

ClinVar genetic disease variations for Deafness, Autosomal Dominant 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COCH NM_004086.2(COCH): c.197T> G (p.Val66Gly) single nucleotide variant Pathogenic rs121908927 GRCh37 Chromosome 14, 31346892: 31346892
2 COCH NM_004086.2(COCH): c.263G> A (p.Gly88Glu) single nucleotide variant Pathogenic rs121908928 GRCh37 Chromosome 14, 31348040: 31348040
3 COCH NM_004086.2(COCH): c.349T> C (p.Trp117Arg) single nucleotide variant Pathogenic rs121908929 GRCh37 Chromosome 14, 31348126: 31348126
4 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh37 Chromosome 14, 31346846: 31346846
5 COCH NM_004086.2(COCH): c.326T> A (p.Ile109Asn) single nucleotide variant Pathogenic rs121908930 GRCh37 Chromosome 14, 31348103: 31348103
6 COCH NM_004086.2(COCH): c.355G> A (p.Ala119Thr) single nucleotide variant Pathogenic rs121908931 GRCh37 Chromosome 14, 31348132: 31348132
7 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
8 COCH NM_004086.2(COCH): c.1625G> A (p.Cys542Tyr) single nucleotide variant Pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
9 COCH NM_004086.2(COCH): c.1535T> C (p.Met512Thr) single nucleotide variant Pathogenic rs121908934 GRCh37 Chromosome 14, 31358879: 31358879
10 COCH NM_004086.2(COCH): c.1159C> T (p.Leu387Phe) single nucleotide variant Pathogenic rs878853226 GRCh38 Chromosome 14, 30885994: 30885994

Expression for Deafness, Autosomal Dominant 9

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 9.

Pathways for Deafness, Autosomal Dominant 9

GO Terms for Deafness, Autosomal Dominant 9

Biological processes related to Deafness, Autosomal Dominant 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 COCH POU4F3 STRC

Sources for Deafness, Autosomal Dominant 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....