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

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Aliases & Descriptions for Deafness, Autosomal Dominant 9:

Name: Deafness, Autosomal Dominant 9 52 12 68
Autosomal Dominant Nonsyndromic Deafness 9 11 13
Deafness, Autosomal Dominant, 9 70 27
 
Dfna9 11 70
Autosomal Dominant Deafness 9 11

Characteristics:

HPO:

64
deafness, autosomal dominant 9:
Inheritance: autosomal dominant inheritance
Onset and clinical course: progressive, young adult onset

Classifications:



External Ids:

OMIM52 601369
Disease Ontology11 DOID:0110593
ICD1030 H90.3
MedGen37 C1832425
MeSH39 D006319

Summaries for Deafness, Autosomal Dominant 9

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UniProtKB/Swiss-Prot:70 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, vertigo and tinnitus. An important gene associated with Deafness, Autosomal Dominant 9 is COCH (Cochlin). Related mouse phenotype hearing/vestibular/ear.

OMIM:52 DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable... (601369) more...

Disease Ontology:11 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

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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
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)
idRelated DiseaseScoreTop Affiliating Genes
1dfna 9 nonsyndromic hearing loss and deafness10.9
2intestinal disaccharidase deficiency10.0COCH, FAM136A
3osteogenesis imperfecta, type x10.0DFNA5, FAM136A
4bartter syndrome, type 110.0COCH, STRC
5laryngitis10.0COCH, FAM136A
6nonsyndromic deafness10.0
7autosomal dominant nonsyndromic deafness10.0
8telangiectasia macularis eruptiva perstans10.0COCH, DFNA5
9urethral gland abscess10.0COCH, FAM136A
10autosomal dominant nonsyndromic deafness 699.9COCH, DFNA5, STRC
11fibrochondrogenesis 29.9COCH, DFNA5, STRC
12narcissistic personality disorder9.9COCH, STRC
13obesity susceptibility, adrb3-related9.9COCH, DFNA5, STRC
14duodenum cancer9.9COCH, DFNA5, STRC
15x-linked nonsyndromic deafness9.9COCH, DFNA5, STRC
16spastic paraplegia 32, autosomal recessive9.2COCH, DFNA5, FAM136A, LLGL1, SLC44A2, STRC

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



Diseases related to deafness, autosomal dominant 9

Symptoms & Phenotypes for Deafness, Autosomal Dominant 9

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Symptoms by clinical synopsis from OMIM:

601369

Clinical features from OMIM:

601369

Human phenotypes related to Deafness, Autosomal Dominant 9:

 64
id Description HPO Frequency HPO Source Accession
1 tinnitus64 HP:0000360
2 vertigo64 HP:0002321
3 cochlear degeneration64 HP:0005102
4 postlingual sensorineural hearing impairment64 HP:0008596
5 abnormality of the vestibulocochlear nerve64 HP:0009591

UMLS symptoms related to Deafness, Autosomal Dominant 9:


vertigo

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 9 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.2COCH, DFNA5, SLC44A2, STRC

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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Genetic tests related to Deafness, Autosomal Dominant 9:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 927

Anatomical Context for Deafness, Autosomal Dominant 9

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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:

70 (show all 13)
id Symbol AA change Variation ID SNP ID
1COCHp.Pro51SerVAR_008532rs28938175
2COCHp.Val66GlyVAR_008533rs121908927
3COCHp.Gly88GluVAR_008534rs121908928
4COCHp.Ile109AsnVAR_008535rs121908930
5COCHp.Trp117ArgVAR_008536rs121908929
6COCHp.Ala119ThrVAR_017175rs121908931
7COCHp.Cys162TyrVAR_070034
8COCHp.Gly87ValVAR_072249
9COCHp.Gly87TrpVAR_072250
10COCHp.Ile109ThrVAR_072251
11COCHp.Met512ThrVAR_072252rs121908934
12COCHp.Phe527CysVAR_072253
13COCHp.Cys542TyrVAR_072254rs121908932

Clinvar genetic disease variations for Deafness, Autosomal Dominant 9:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COCHNM_ 004086.2(COCH): c.1159C> T (p.Leu387Phe)SNVPathogenicrs878853226GRCh38Chr 14, 30885994: 30885994
2COCHNM_ 004086.2(COCH): c.197T> G (p.Val66Gly)SNVPathogenicrs121908927GRCh37Chr 14, 31346892: 31346892
3COCHNM_ 004086.2(COCH): c.263G> A (p.Gly88Glu)SNVPathogenicrs121908928GRCh37Chr 14, 31348040: 31348040
4COCHNM_ 004086.2(COCH): c.349T> C (p.Trp117Arg)SNVPathogenicrs121908929GRCh37Chr 14, 31348126: 31348126
5COCHNM_ 004086.2(COCH): c.151C> T (p.Pro51Ser)SNVPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846
6COCHNM_ 004086.2(COCH): c.326T> A (p.Ile109Asn)SNVPathogenicrs121908930GRCh37Chr 14, 31348103: 31348103
7COCHNM_ 004086.2(COCH): c.355G> A (p.Ala119Thr)SNVPathogenicrs121908931GRCh37Chr 14, 31348132: 31348132
8COCHNM_ 004086.2(COCH): c.1625G> T (p.Cys542Phe)SNVPathogenic/ Likely pathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
9COCHNM_ 004086.2(COCH): c.1625G> A (p.Cys542Tyr)SNVPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
10COCHNM_ 004086.2(COCH): c.1535T> C (p.Met512Thr)SNVPathogenicrs121908934GRCh37Chr 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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Biological processes related to Deafness, Autosomal Dominant 9 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:00076059.0COCH, DFNA5, STRC

Sources for Deafness, Autosomal Dominant 9

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet