MCID: DFN136
MIFTS: 33

Deafness, Autosomal Dominant 9

Categories: Genetic diseases, Ear diseases, Fetal diseases, Blood diseases, Rare diseases, Neuronal diseases, Cardiovascular 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:
onset in young adulthood
progressive disorder


HPO:

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


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 sensorineural hearing loss and nonsyndromic deafness, and has symptoms including tinnitus and vertigo. 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 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 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 3
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 sensorineural hearing loss 29.0 COCH GSDME STRC
2 nonsyndromic deafness 28.9 COCH GSDME STRC
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 peripheral vertigo 10.0 COCH FAM136A
5 vestibular disease 10.0 COCH FAM136A
6 deafness, autosomal dominant 11 10.0 FAM136A GSDME
7 vestibulocochlear dysfunction, progressive 9.9
8 deafness, autosomal recessive 16 9.8 COCH STRC
9 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 COCH GSDME
10 autosomal dominant nonsyndromic deafness 9.6 COCH FAM136A GSDME
11 non-syndromic genetic deafness 9.5 COCH GSDME STRC
12 deafness, autosomal dominant 6 9.5 COCH GSDME STRC
13 deafness, autosomal dominant 13 9.5 COCH GSDME STRC
14 auditory system disease 9.5 COCH STRC
15 meniere disease 9.2 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:
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:

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:


tinnitus, vertigo

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

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 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:

# 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
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. ( 26631968 )
2016

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 Pathogenic rs121908931 GRCh37 Chromosome 14, 31348132: 31348132
12 COCH NM_004086.2(COCH): c.355G> A (p.Ala119Thr) single nucleotide variant Pathogenic 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....