DFNA9
MCID: DFN136
MIFTS: 31

Deafness, Autosomal Dominant 9 (DFNA9) malady

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

Aliases & Classifications for Deafness, Autosomal Dominant 9

Aliases & Descriptions for Deafness, Autosomal Dominant 9:

Name: Deafness, Autosomal Dominant 9 54 13 69
Autosomal Dominant Nonsyndromic Deafness 9 12 14
Deafness, Autosomal Dominant, 9 66 29
Dfna9 12 66
Autosomal Dominant Deafness 9 12

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 601369
Disease Ontology 12 DOID:0110593
ICD10 33 H90.3
MedGen 40 C1832425
MeSH 42 D006319

Summaries for Deafness, Autosomal Dominant 9

UniProtKB/Swiss-Prot : 66 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 autosomal dominant nonsyndromic deafness 9, is related to dfna 9 nonsyndromic hearing loss and deafness and intestinal disaccharidase deficiency, and has symptoms including vertigo, tinnitus and cochlear degeneration. An important gene associated with Deafness, Autosomal Dominant 9 is COCH (Cochlin). Related phenotype is hearing/vestibular/ear.

OMIM : 54 DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable... (601369) more...

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

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 dfna 9 nonsyndromic hearing loss and deafness 10.9
2 intestinal disaccharidase deficiency 10.0 COCH FAM136A
3 osteogenesis imperfecta, type x 10.0 DFNA5 FAM136A
4 bartter syndrome, type 1 10.0 COCH STRC
5 laryngitis 10.0 COCH FAM136A
6 nonsyndromic deafness 10.0
7 autosomal dominant nonsyndromic deafness 10.0
8 telangiectasia macularis eruptiva perstans 10.0 COCH DFNA5
9 urethral gland abscess 10.0 COCH FAM136A
10 autosomal dominant nonsyndromic deafness 69 9.9 COCH DFNA5 STRC
11 fibrochondrogenesis 2 9.9 COCH DFNA5 STRC
12 obesity susceptibility, adrb3-related 9.9 COCH DFNA5 STRC
13 narcissistic personality disorder 9.9 COCH STRC
14 duodenum cancer 9.9 COCH DFNA5 STRC
15 x-linked nonsyndromic deafness 9.9 COCH DFNA5 STRC
16 spastic paraplegia 32, autosomal recessive 9.2 COCH DFNA5 FAM136A LLGL1 SLC44A2 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 by clinical synopsis from OMIM:

601369

Clinical features from OMIM:

601369

Human phenotypes related to Deafness, Autosomal Dominant 9:

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

UMLS symptoms related to Deafness, Autosomal Dominant 9:


vertigo

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 9:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 COCH DFNA5 SLC44A2 STRC

Drugs & Therapeutics for Deafness, Autosomal Dominant 9

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

Search NIH Clinical Center for Deafness, Autosomal Dominant 9

Genetic Tests for Deafness, Autosomal Dominant 9

Genetic tests related to Deafness, Autosomal Dominant 9:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 9 29

Anatomical Context for Deafness, Autosomal Dominant 9

Publications for Deafness, Autosomal Dominant 9

Variations for Deafness, Autosomal Dominant 9

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

66 (show all 13)
id 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

ClinVar genetic disease variations for Deafness, Autosomal Dominant 9:

6
id 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:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 COCH DFNA5 STRC

Sources for Deafness, Autosomal Dominant 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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