DFNA9
MCID: DFN136
MIFTS: 37

Deafness, Autosomal Dominant 9 (DFNA9)

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

Aliases & Classifications for Deafness, Autosomal Dominant 9

MalaCards integrated aliases for Deafness, Autosomal Dominant 9:

Name: Deafness, Autosomal Dominant 9 57 29 13 6 73
Dfna9 57 12 75
Autosomal Dominant Nonsyndromic Deafness 9 12 15
Deafness, Autosomal Dominant, Type 9 40
Deafness, Autosomal Dominant, 9 75
Autosomal Dominant Deafness 9 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in young adulthood


HPO:

32
deafness, autosomal dominant 9:
Onset and clinical course young adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601369
Disease Ontology 12 DOID:0110593
ICD10 33 H90.3
MedGen 42 C1832425
MeSH 44 D006319
UMLS 73 C1832425

Summaries for Deafness, Autosomal Dominant 9

UniProtKB/Swiss-Prot : 75 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 autosomal dominant nonsyndromic deafness and nonsyndromic deafness, and has symptoms including vertigo and tinnitus. An important gene associated with Deafness, Autosomal Dominant 9 is COCH (Cochlin). Affiliated tissues include bone, and related phenotypes are vertigo and tinnitus

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.

OMIM : 57 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)

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 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 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 30.3 COCH FAM136A GSDME
2 nonsyndromic deafness 29.8 COCH GSDME STRC
3 sensorineural hearing loss 29.7 COCH GSDME STRC
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
5 vestibulocochlear dysfunction, progressive 10.0
6 autosomal dominant disease 10.0
7 peripheral vertigo 10.0 COCH FAM136A
8 deafness, autosomal dominant 11 10.0 FAM136A GSDME
9 vestibular disease 10.0 COCH FAM136A
10 deafness, autosomal recessive 16 9.9 COCH STRC
11 deafness, autosomal dominant 6 9.8 COCH GSDME STRC
12 deafness, autosomal dominant 13 9.8 COCH GSDME STRC
13 auditory system disease 9.8 COCH STRC
14 non-syndromic genetic deafness 9.8 COCH GSDME STRC
15 meniere disease 9.8 COCH FAM136A SLC44A2

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:

57
Head And Neck Ears:
vertigo
tinnitus
hearing loss, postlingual
vestibular involvement (variable)
downward sloping audiogram
more

Clinical features from OMIM:

601369

Human phenotypes related to Deafness, Autosomal Dominant 9:

32
# Description HPO Frequency HPO Source Accession
1 vertigo 32 HP:0002321
2 tinnitus 32 HP:0000360
3 abnormality of the vestibulocochlear nerve 32 HP:0009591
4 cochlear degeneration 32 HP:0005102
5 postlingual sensorineural hearing impairment 32 HP:0008596

UMLS symptoms related to Deafness, Autosomal Dominant 9:


vertigo, tinnitus

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 COCH GSDME SLC44A2 STRC

Drugs & Therapeutics for Deafness, Autosomal Dominant 9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients Recruiting NCT03716908
2 Systematic Review of Phenotypical Characteristics of P51S COCH Mutation Withdrawn NCT03707756
3 CNS Infections Effect on the Inner Ear Recruiting NCT03715569

Search 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 29 COCH

Anatomical Context for Deafness, Autosomal Dominant 9

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

41
Bone

Publications for Deafness, Autosomal Dominant 9

Articles related to Deafness, Autosomal Dominant 9:

(show all 17)
# 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
Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review. ( 29375286 )
2017
3
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. ( 26631968 )
2016
4
Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9). ( 27023102 )
2016
5
Extralabyrinthine manifestations of DFNA9. ( 21052762 )
2011
6
Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder. ( 21073934 )
2011
7
Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation. ( 21774451 )
2011
8
A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. ( 18697796 )
2008
9
Good speech recognition and quality-of-life scores after cochlear implantation in patients with DFNA9. ( 16371846 )
2006
10
Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers. ( 16151338 )
2005
11
Gene Symbol: COCH. Disease: DFNA9. ( 15176382 )
2004
12
DFNA9/COCH and its phenotype. ( 12408065 )
2002
13
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation. ( 11332404 )
2001
14
Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family. ( 11843927 )
2001
15
Mutations in COCH (formerly Coch5b2) cause DFNA9. ( 10868220 )
2000
16
Histopathology of the inner ear in DFNA9. ( 10868238 )
2000
17
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:

75 (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 (show all 24)
# 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.197T> G (p.Val66Gly) single nucleotide variant Pathogenic rs121908927 GRCh38 Chromosome 14, 30877686: 30877686
3 COCH NM_004086.2(COCH): c.263G> A (p.Gly88Glu) single nucleotide variant Pathogenic rs121908928 GRCh37 Chromosome 14, 31348040: 31348040
4 COCH NM_004086.2(COCH): c.263G> A (p.Gly88Glu) single nucleotide variant Pathogenic rs121908928 GRCh38 Chromosome 14, 30878834: 30878834
5 COCH NM_004086.2(COCH): c.349T> C (p.Trp117Arg) single nucleotide variant Pathogenic rs121908929 GRCh37 Chromosome 14, 31348126: 31348126
6 COCH NM_004086.2(COCH): c.349T> C (p.Trp117Arg) single nucleotide variant Pathogenic rs121908929 GRCh38 Chromosome 14, 30878920: 30878920
7 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh37 Chromosome 14, 31346846: 31346846
8 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh38 Chromosome 14, 30877640: 30877640
9 COCH NM_004086.2(COCH): c.326T> A (p.Ile109Asn) single nucleotide variant Pathogenic rs121908930 GRCh37 Chromosome 14, 31348103: 31348103
10 COCH NM_004086.2(COCH): c.326T> A (p.Ile109Asn) single nucleotide variant Pathogenic rs121908930 GRCh38 Chromosome 14, 30878897: 30878897
11 COCH NM_004086.2(COCH): c.355G> A (p.Ala119Thr) single nucleotide variant Uncertain significance rs121908931 GRCh37 Chromosome 14, 31348132: 31348132
12 COCH NM_004086.2(COCH): c.355G> A (p.Ala119Thr) single nucleotide variant Uncertain significance rs121908931 GRCh38 Chromosome 14, 30878926: 30878926
13 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
14 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh38 Chromosome 14, 30889763: 30889763
15 COCH NM_004086.2(COCH): c.1625G> A (p.Cys542Tyr) single nucleotide variant Pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
16 COCH NM_004086.2(COCH): c.1625G> A (p.Cys542Tyr) single nucleotide variant Pathogenic rs121908932 GRCh38 Chromosome 14, 30889763: 30889763
17 COCH NM_004086.2(COCH): c.1535T> C (p.Met512Thr) single nucleotide variant Pathogenic rs121908934 GRCh37 Chromosome 14, 31358879: 31358879
18 COCH NM_004086.2(COCH): c.1535T> C (p.Met512Thr) single nucleotide variant Pathogenic rs121908934 GRCh38 Chromosome 14, 30889673: 30889673
19 COCH NM_001135058.1(COCH): c.1055C> G (p.Thr352Ser) single nucleotide variant Benign rs1045644 GRCh37 Chromosome 14, 31355096: 31355096
20 COCH NM_001135058.1(COCH): c.1055C> G (p.Thr352Ser) single nucleotide variant Benign rs1045644 GRCh38 Chromosome 14, 30885890: 30885890
21 COCH NM_004086.2(COCH): c.1159C> T (p.Leu387Phe) single nucleotide variant Pathogenic rs878853226 GRCh38 Chromosome 14, 30885994: 30885994
22 COCH NM_004086.2(COCH): c.1159C> T (p.Leu387Phe) single nucleotide variant Pathogenic rs878853226 GRCh37 Chromosome 14, 31355200: 31355200
23 COCH NM_004086.2(COCH): c.1150C> T (p.Arg384Cys) single nucleotide variant Likely pathogenic rs756541797 GRCh38 Chromosome 14, 30885985: 30885985
24 COCH NM_004086.2(COCH): c.1150C> T (p.Arg384Cys) single nucleotide variant Likely pathogenic rs756541797 GRCh37 Chromosome 14, 31355191: 31355191

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 GSDME STRC

Sources for Deafness, Autosomal Dominant 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....