DFNA17
MCID: DFN200
MIFTS: 37

Deafness, Autosomal Dominant 17 (DFNA17) malady

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

Aliases & Classifications for Deafness, Autosomal Dominant 17

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Aliases & Descriptions for Deafness, Autosomal Dominant 17:

Name: Deafness, Autosomal Dominant 17 52 12 68
Autosomal Dominant Nonsyndromic Deafness 17 11 13
Dfna17 11 70
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 68
 
Deafness, Autosomal Dominant, 17 70
Autosomal Dominant Deafness 17 11
Cochleosaccular Degeneration 70

Characteristics:

HPO:

64
deafness, autosomal dominant 17:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 603622
Disease Ontology11 DOID:0110548
ICD1030 H90.3
MeSH39 D006319

Summaries for Deafness, Autosomal Dominant 17

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Disease Ontology:11 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has material basis in mutation in the MYH9 gene on chromosome 22q12.

MalaCards based summary: Deafness, Autosomal Dominant 17, also known as autosomal dominant nonsyndromic deafness 17, is related to cochleosaccular degeneration with progressive cataracts and cochleosaccular degeneration of the inner ear and progressive cataracts, and has symptoms including high-frequency hearing impairment An important gene associated with Deafness, Autosomal Dominant 17 is MYH9 (Myosin Heavy Chain 9), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Celecoxib Pathway, Pharmacodynamics. Related mouse phenotypes are hearing/vestibular/ear and no phenotypic analysis.

UniProtKB/Swiss-Prot:70 Deafness, autosomal dominant, 17: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration.

Description from OMIM:52 603622

Related Diseases for Deafness, Autosomal Dominant 17

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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 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1cochleosaccular degeneration with progressive cataracts12.0
2cochleosaccular degeneration of the inner ear and progressive cataracts12.0
3dfna17 nonsyndromic hearing loss and deafness11.8
4deafness, autosomal dominant nonsyndromic sensorineural 1711.0
5inflammatory bowel disease 510.2MYO1A, MYO3A
6cardiomyopathy, dilated, with woolly hair and keratoderma10.1DFNA5, MYH14
7autosomal dominant nonsyndromic deafness 6810.1DFNA5, MYH14
8obesity susceptibility, agrp-related10.0DFNA5, MYO1A, MYO6
9manitoba oculotrichoanal syndrome10.0MYO15A, MYO7A
10sjogren-larsson syndrome10.0MYO15A, MYO7A
11seckel syndrome9.9MYO15A, MYO7A
12autosomal dominant nonsyndromic deafness 699.9DFNA5, MYH14, MYO7A
13narcissistic personality disorder9.9MYH9, MYO15A, MYO7A
14fibrochondrogenesis 29.9DFNA5, MYO7A
15autism susceptibility 179.8APPL1, MYO7A
16osteogenesis imperfecta, type x9.7DFNA5, MYO15A, MYO6, MYO7A
17obesity susceptibility, adrb3-related9.7DFNA5, MYO15A, MYO6, MYO7A
18preterm premature rupture of the membranes9.7MYO15A, MYO1A, MYO3A, MYO6, MYO7A
19mitochondrial non-syndromic sensorineural deafness9.7MYH9, MYO15A, MYO3A, MYO6, MYO7A
20duodenum cancer9.6DFNA5, MYH9, MYO15A, MYO6, MYO7A
21telangiectasia macularis eruptiva perstans9.6DFNA5, MYH14, MYH9, MYO1A, MYO6, MYO7A
22ullrich congenital muscular dystrophy 29.5MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
23bethlem myopathy 29.5MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
24omenn syndrome9.5MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
2546xy partial gonadal dysgenesis, with minifascicular neuropathy9.5MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
26autosomal recessive nonsyndromic deafness 979.5MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
27x-linked nonsyndromic deafness9.4DFNA5, MYH14, MYH9, MYO15A, MYO3A, MYO6
28macrothrombocytopenia and progressive sensorineural deafness8.5APPL1, DFNA5, MYH14, MYH9, MYO15A, MYO1A

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 17:



Diseases related to deafness, autosomal dominant 17

Symptoms & Phenotypes for Deafness, Autosomal Dominant 17

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Symptoms by clinical synopsis from OMIM:

603622

Clinical features from OMIM:

603622

Human phenotypes related to Deafness, Autosomal Dominant 17:

 64
id Description HPO Frequency HPO Source Accession
1 high-frequency hearing impairment64 HP:0005101

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 17 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5DFNA5, MYH9, MYO15A, MYO1A, MYO3A, MYO6
2MP:00030128.1APPL1, MYH14, MYH9, MYO7A, PTGER2
3MP:00053858.1APPL1, MYH14, MYH9, MYO6, PTGDR, PTGER2
4MP:00036317.6DFNA5, MYH14, MYH9, MYO15A, MYO3A, MYO6
5MP:00053867.3APPL1, MYO15A, MYO3A, MYO6, MYO7A, PTGDR

Drugs & Therapeutics for Deafness, Autosomal Dominant 17

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
2Prevalence of POU4F3 and SLC17A8 MutationsTerminatedNCT01802190

Search NIH Clinical Center for Deafness, Autosomal Dominant 17

Genetic Tests for Deafness, Autosomal Dominant 17

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Anatomical Context for Deafness, Autosomal Dominant 17

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Publications for Deafness, Autosomal Dominant 17

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Variations for Deafness, Autosomal Dominant 17

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 17:

70
id Symbol AA change Variation ID SNP ID
1MYH9p.Arg705HisVAR_010793rs80338828

Clinvar genetic disease variations for Deafness, Autosomal Dominant 17:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_ 002473.5(MYH9): c.2114G> A (p.Arg705His)SNVPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
2MYH9NM_ 002473.5(MYH9): c.287C> T (p.Ser96Leu)SNVPathogenicrs121913657GRCh37Chr 22, 36744995: 36744995

Expression for genes affiliated with Deafness, Autosomal Dominant 17

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Search GEO for disease gene expression data for Deafness, Autosomal Dominant 17.

Pathways for genes affiliated with Deafness, Autosomal Dominant 17

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Pathways related to Deafness, Autosomal Dominant 17 according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.6PTGDR, PTGER2
29.1PTGDR, PTGER2, PTGER4
39.1PTGDR, PTGER2, PTGER4
49.1PTGDR, PTGER2, PTGER4
5
Show member pathways
9.1PTGDR, PTGER2, PTGER4
69.1PTGDR, PTGER2, PTGER4
78.8APPL1, PTGER2, PTGER4
88.7APPL1, MYH14, MYH9, MYO6
9
Show member pathways
7.8MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
10
Show member pathways
7.8MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
11
Show member pathways
7.8MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
12
Show member pathways
7.8MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
13
Show member pathways
7.8MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
14
Show member pathways
7.8MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
15
Show member pathways
7.8MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6

GO Terms for genes affiliated with Deafness, Autosomal Dominant 17

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Cellular components related to Deafness, Autosomal Dominant 17 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actomyosinGO:004264110.5MYH14, MYH9
2myosin II complexGO:001646010.3MYH14, MYH9
3myosin II filamentGO:009751310.3MYH14, MYH9
4brush borderGO:000590310.2MYH14, MYH9, MYO1A
5filamentous actinGO:003194110.1MYO1A, MYO3A, MYO6
6cell cortexGO:00059389.8MYH9, MYO6, MYO7A
7microvillusGO:00059029.7MYO1A, MYO6, MYO7A
8stereociliumGO:00324209.4MYO15A, MYO7A
9myosin complexGO:00164598.3MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6

Biological processes related to Deafness, Autosomal Dominant 17 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actomyosin structure organizationGO:003103210.5MYH14, MYH9
2inner ear receptor cell differentiationGO:006011310.0DFNA5, MYO7A
3cellular response to prostaglandin E stimulusGO:00713809.6PTGDR, PTGER2, PTGER4
4actin filament-based movementGO:00300489.4MYH14, MYH9, MYO6, MYO7A
5sensory perception of soundGO:00076057.7DFNA5, MYH14, MYO15A, MYO1A, MYO3A, MYO6

Molecular functions related to Deafness, Autosomal Dominant 17 according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:00308989.7MYH14, MYH9, MYO3A, MYO7A
2ADP bindingGO:00435319.6MYH9, MYO3A, MYO6, MYO7A
3microfilament motor activityGO:00001469.6MYH14, MYH9, MYO3A, MYO7A
4actin filament bindingGO:00510159.3MYH14, MYH9, MYO1A, MYO6, MYO7A
5nucleotide bindingGO:00001669.1MYH14, MYH9, MYO3A, MYO7A
6prostaglandin E receptor activityGO:00049579.1PTGDR, PTGER2, PTGER4
7actin bindingGO:00037798.6MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
8ATP bindingGO:00055248.5MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
9calmodulin bindingGO:00055168.5MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6
10motor activityGO:00037748.5MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6

Sources for Deafness, Autosomal Dominant 17

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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