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

Aliases & Descriptions for Deafness, Autosomal Dominant 17:

Name: Deafness, Autosomal Dominant 17 54 13 69
Autosomal Dominant Nonsyndromic Deafness 17 12 14
Dfna17 12 66
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 69
Deafness, Autosomal Dominant, 17 66
Autosomal Dominant Deafness 17 12
Cochleosaccular Degeneration 66

Characteristics:

HPO:

32
deafness, autosomal dominant 17:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 603622
Disease Ontology 12 DOID:0110548
ICD10 33 H90.3
MeSH 42 D006319

Summaries for Deafness, Autosomal Dominant 17

Disease Ontology : 12 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/superpathways are ERK Signaling and Integrin Pathway. Related phenotypes are behavior/neurological and cardiovascular system

UniProtKB/Swiss-Prot : 66 Deafness, autosomal dominant, 17: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration.

Description from OMIM: 603622

Related Diseases for Deafness, Autosomal Dominant 17

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)
id Related Disease Score Top Affiliating Genes
1 cochleosaccular degeneration with progressive cataracts 12.0
2 cochleosaccular degeneration of the inner ear and progressive cataracts 12.0
3 dfna17 nonsyndromic hearing loss and deafness 11.8
4 deafness, autosomal dominant nonsyndromic sensorineural 17 11.0
5 inflammatory bowel disease 5 10.2 MYO1A MYO3A
6 cardiomyopathy, dilated, with woolly hair and keratoderma 10.1 DFNA5 MYH14
7 autosomal dominant nonsyndromic deafness 68 10.1 DFNA5 MYH14
8 obesity susceptibility, agrp-related 10.0 DFNA5 MYO1A MYO6
9 manitoba oculotrichoanal syndrome 10.0 MYO15A MYO7A
10 sjogren-larsson syndrome 10.0 MYO15A MYO7A
11 seckel syndrome 9.9 MYO15A MYO7A
12 autosomal dominant nonsyndromic deafness 69 9.9 DFNA5 MYH14 MYO7A
13 narcissistic personality disorder 9.9 MYH9 MYO15A MYO7A
14 fibrochondrogenesis 2 9.9 DFNA5 MYO7A
15 autism susceptibility 17 9.8 APPL1 MYO7A
16 osteogenesis imperfecta, type x 9.7 DFNA5 MYO15A MYO6 MYO7A
17 obesity susceptibility, adrb3-related 9.7 DFNA5 MYO15A MYO6 MYO7A
18 preterm premature rupture of the membranes 9.7 MYO15A MYO1A MYO3A MYO6 MYO7A
19 mitochondrial non-syndromic sensorineural deafness 9.7 MYH9 MYO15A MYO3A MYO6 MYO7A
20 duodenum cancer 9.6 DFNA5 MYH9 MYO15A MYO6 MYO7A
21 telangiectasia macularis eruptiva perstans 9.6 DFNA5 MYH14 MYH9 MYO1A MYO6 MYO7A
22 ullrich congenital muscular dystrophy 2 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
23 bethlem myopathy 2 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
24 omenn syndrome 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
25 46xy partial gonadal dysgenesis, with minifascicular neuropathy 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
26 autosomal recessive nonsyndromic deafness 97 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
27 x-linked nonsyndromic deafness 9.4 DFNA5 MYH14 MYH9 MYO15A MYO3A MYO6
28 macrothrombocytopenia and progressive sensorineural deafness 8.5 APPL1 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

Symptoms by clinical synopsis from OMIM:

603622

Clinical features from OMIM:

603622

Human phenotypes related to Deafness, Autosomal Dominant 17:

32
id Description HPO Frequency HPO Source Accession
1 high-frequency hearing impairment 32 HP:0005101

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 17:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 APPL1 MYO15A MYO3A MYO6 MYO7A PTGDR
2 cardiovascular system MP:0005385 9.8 APPL1 MYH14 MYH9 MYO6 PTGDR PTGER2
3 hearing/vestibular/ear MP:0005377 9.7 DFNA5 MYH9 MYO15A MYO1A MYO3A MYO6
4 nervous system MP:0003631 9.61 MYO15A MYO3A MYO6 MYO7A PTGDR PTGER2
5 no phenotypic analysis MP:0003012 9.02 APPL1 MYH14 MYH9 MYO7A PTGER2

Drugs & Therapeutics for Deafness, Autosomal Dominant 17

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 Prevalence of POU4F3 and SLC17A8 Mutations Terminated NCT01802190

Search NIH Clinical Center for Deafness, Autosomal Dominant 17

Genetic Tests for Deafness, Autosomal Dominant 17

Anatomical Context for Deafness, Autosomal Dominant 17

Publications for Deafness, Autosomal Dominant 17

Variations for Deafness, Autosomal Dominant 17

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

66
id Symbol AA change Variation ID SNP ID
1 MYH9 p.Arg705His VAR_010793 rs80338828

ClinVar genetic disease variations for Deafness, Autosomal Dominant 17:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.2114G> A (p.Arg705His) single nucleotide variant Pathogenic rs80338828 GRCh37 Chromosome 22, 36702021: 36702021
2 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh37 Chromosome 22, 36744995: 36744995

Expression for Deafness, Autosomal Dominant 17

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

Pathways for Deafness, Autosomal Dominant 17

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

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
2
Show member pathways
13.14 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
3
Show member pathways
13.01 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
4
Show member pathways
12.69 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
5
Show member pathways
12.53 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
6
Show member pathways
12.29 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
7 12.28 APPL1 MYH14 MYH9 MYO6
8 11.92 APPL1 PTGER2 PTGER4
9 11.85 PTGDR PTGER2 PTGER4
10
Show member pathways
11.55 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
11 11.42 PTGDR PTGER2 PTGER4
12
Show member pathways
11.29 PTGDR PTGER2 PTGER4
13 11.26 PTGDR PTGER2
14 11.02 PTGDR PTGER2 PTGER4
15 10.94 PTGDR PTGER2 PTGER4

GO Terms for Deafness, Autosomal Dominant 17

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

id Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 9.61 MYH9 MYO6 MYO7A
2 microvillus GO:0005902 9.5 MYO1A MYO6 MYO7A
3 stereocilium GO:0032420 9.46 MYO15A MYO7A
4 brush border GO:0005903 9.43 MYH14 MYH9 MYO1A
5 actomyosin GO:0042641 9.4 MYH14 MYH9
6 myosin II complex GO:0016460 9.37 MYH14 MYH9
7 myosin complex GO:0016459 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
8 myosin II filament GO:0097513 9.16 MYH14 MYH9
9 filamentous actin GO:0031941 9.13 MYO1A MYO3A MYO6

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

id Name GO ID Score Top Affiliating Genes
1 cellular response to prostaglandin E stimulus GO:0071380 9.33 PTGDR PTGER2 PTGER4
2 actomyosin structure organization GO:0031032 9.32 MYH14 MYH9
3 inner ear receptor cell differentiation GO:0060113 9.26 DFNA5 MYO7A
4 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A
5 sensory perception of sound GO:0007605 9.17 DFNA5 MYH14 MYO15A MYO1A MYO3A MYO6

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

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.83 MYH14 MYH9 MYO1A MYO6 MYO7A
2 actin binding GO:0003779 9.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
3 nucleotide binding GO:0000166 9.78 MYH14 MYH9 MYO3A MYO7A
4 ADP binding GO:0043531 9.67 MYH9 MYO3A MYO6 MYO7A
5 microfilament motor activity GO:0000146 9.62 MYH14 MYH9 MYO3A MYO7A
6 prostaglandin E receptor activity GO:0004957 9.58 PTGDR PTGER2 PTGER4
7 calmodulin binding GO:0005516 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
8 actin-dependent ATPase activity GO:0030898 9.46 MYH14 MYH9 MYO3A MYO7A
9 motor activity GO:0003774 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
10 ATP binding GO:0005524 10 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

Sources for Deafness, Autosomal Dominant 17

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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