MCID: DFN136
MIFTS: 22

Deafness, Autosomal Dominant 9 malady

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

Aliases & Classifications for Deafness, Autosomal Dominant 9

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Aliases & Descriptions for Deafness, Autosomal Dominant 9:

Name: Deafness, Autosomal Dominant 9 49 11 65
Deafness, Autosomal Dominant, 9 67 24
 
Dfna9 67

Characteristics:

HPO:

61
deafness, autosomal dominant 9:
Onset and clinical course: young adult onset, progressive
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 601369
MedGen34 C1832425
MeSH36 D006319
UMLS65 C1832425

Summaries for Deafness, Autosomal Dominant 9

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UniProtKB/Swiss-Prot:67 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 deafness, autosomal dominant, 9, is related to dfna 9 nonsyndromic hearing loss and deafness, and has symptoms including abnormality of the vestibulocochlear nerve, postlingual sensorineural hearing impairment and cochlear degeneration. An important gene associated with Deafness, Autosomal Dominant 9 is COCH (Cochlin).

OMIM:49 DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable... (601369) more...

Related Diseases for Deafness, Autosomal Dominant 9

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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
Otof-Related Deafness Deafness, Autosomal Dominant, 68
Deafness, Autosomal Recessive, 97

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

idRelated DiseaseScoreTop Affiliating Genes
1dfna 9 nonsyndromic hearing loss and deafness11.4

Symptoms for Deafness, Autosomal Dominant 9

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Symptoms by clinical synopsis from OMIM:

601369

Clinical features from OMIM:

601369

HPO human phenotypes related to Deafness, Autosomal Dominant 9:

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

Drugs & Therapeutics for Deafness, Autosomal Dominant 9

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional ThrombocytopeniaCompletedNCT00925236

Search NIH Clinical Center for Deafness, Autosomal Dominant 9

Genetic Tests for Deafness, Autosomal Dominant 9

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Anatomical Context for Deafness, Autosomal Dominant 9

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Animal Models for Deafness, Autosomal Dominant 9 or affiliated genes

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Publications for Deafness, Autosomal Dominant 9

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Variations for Deafness, Autosomal Dominant 9

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

67 (show all 13)
id Symbol AA change Variation ID SNP ID
1COCHp.Pro51SerVAR_008532rs28938175
2COCHp.Val66GlyVAR_008533
3COCHp.Gly88GluVAR_008534
4COCHp.Ile109AsnVAR_008535
5COCHp.Trp117ArgVAR_008536
6COCHp.Ala119ThrVAR_017175
7COCHp.Cys162TyrVAR_070034
8COCHp.Gly87ValVAR_072249
9COCHp.Gly87TrpVAR_072250
10COCHp.Ile109ThrVAR_072251
11COCHp.Met512ThrVAR_072252
12COCHp.Phe527CysVAR_072253
13COCHp.Cys542TyrVAR_072254

Clinvar genetic disease variations for Deafness, Autosomal Dominant 9:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_004086.2(COCH): c.197T> G (p.Val66Gly)single nucleotide variantPathogenicrs121908927GRCh37Chr 14, 31346892: 31346892
2NM_004086.2(COCH): c.263G> A (p.Gly88Glu)single nucleotide variantPathogenicrs121908928GRCh37Chr 14, 31348040: 31348040
3NM_004086.2(COCH): c.349T> C (p.Trp117Arg)single nucleotide variantPathogenicrs121908929GRCh37Chr 14, 31348126: 31348126
4NM_004086.2(COCH): c.151C> T (p.Pro51Ser)single nucleotide variantPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846
5NM_004086.2(COCH): c.326T> A (p.Ile109Asn)single nucleotide variantPathogenicrs121908930GRCh37Chr 14, 31348103: 31348103
6NM_004086.2(COCH): c.355G> A (p.Ala119Thr)single nucleotide variantPathogenicrs121908931GRCh37Chr 14, 31348132: 31348132
7NM_004086.2(COCH): c.1625G> T (p.Cys542Phe)single nucleotide variantPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
8NM_004086.2(COCH): c.1625G> A (p.Cys542Tyr)single nucleotide variantPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
9NM_004086.2(COCH): c.1535T> C (p.Met512Thr)single nucleotide variantPathogenicrs121908934GRCh37Chr 14, 31358879: 31358879

Expression for genes affiliated with Deafness, Autosomal Dominant 9

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

Pathways for genes affiliated with Deafness, Autosomal Dominant 9

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GO Terms for genes affiliated with Deafness, Autosomal Dominant 9

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Sources for Deafness, Autosomal Dominant 9

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet