MCID: DFN200
MIFTS: 40

Deafness, Autosomal Dominant 17

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

Aliases & Classifications for Deafness, Autosomal Dominant 17

MalaCards integrated aliases for Deafness, Autosomal Dominant 17:

Name: Deafness, Autosomal Dominant 17 57 13 73
Dfna17 57 12 75
Autosomal Dominant Nonsyndromic Deafness 17 12 15
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 73
Deafness, Autosomal Dominant, Type 17 40
Deafness, Autosomal Dominant, 17 75
Autosomal Dominant Deafness 17 12
Cochleosaccular Degeneration 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of hearing loss in late childhood or adolescence
allelic to fechtner syndrome , may-hegglin anomaly , sebastian syndrome , and epstein syndrome


HPO:

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


Classifications:



External Ids:

OMIM 57 603622
Disease Ontology 12 DOID:0110548
ICD10 33 H90.3
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 232326009 48758008

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 dfna17, is related to cochleosaccular degeneration with progressive cataracts and cochleosaccular degeneration of the inner ear and progressive cataracts. 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 high-frequency hearing impairment and behavior/neurological

UniProtKB/Swiss-Prot : 75 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 Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Recessive 105 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 cochleosaccular degeneration with progressive cataracts 12.1
2 cochleosaccular degeneration of the inner ear and progressive cataracts 12.1
3 deafness, autosomal dominant nonsyndromic sensorineural 17 11.1
4 deafness, autosomal dominant 1 10.4 MYO1A MYO3A
5 deafness, autosomal dominant 21 10.4 GSDME MYH14
6 deafness, autosomal dominant 20 10.1 GSDME MYH14
7 deafness, autosomal recessive 3 9.9 MYO15A MYO7A
8 deafness, autosomal recessive 85 9.8 MYO15A MYO7A
9 deafness, autosomal recessive 83 9.7 MYO15A MYO7A
10 deafness, autosomal dominant 6 9.7 GSDME MYH14 MYO7A
11 deafness, autosomal dominant 13 9.6 GSDME MYO7A
12 auditory system disease 9.6 MYH9 MYO15A MYO7A
13 inner ear disease 9.5 MYH9 MYO7A
14 non-syndromic genetic deafness 9.5 GSDME MYH9 MYO15A MYO6
15 deafness, autosomal recessive 2 9.2 MYO15A MYO1A MYO6 MYO7A
16 deafness, autosomal dominant 11 9.1 GSDME MYO15A MYO6 MYO7A
17 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.9 MYH9 MYO15A MYO3A MYO6 MYO7A
18 sensorineural hearing loss 8.7 GSDME MYH9 MYO15A MYO6 MYO7A
19 autosomal dominant non-syndromic sensorineural deafness type dfna 8.6 GSDME MYH14 MYH9 MYO1A MYO6 MYO7A
20 autosomal dominant nonsyndromic deafness 8.6 GSDME MYH14 MYH9 MYO1A MYO6 MYO7A
21 deafness, autosomal dominant 22 8.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
22 deafness, autosomal recessive 30 8.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
23 deafness, autosomal recessive 37 8.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
24 deafness, autosomal dominant 48 8.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
25 autosomal recessive nonsyndromic deafness 3 8.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
26 nonsyndromic deafness 7.7 GSDME MYH14 MYH9 MYO15A MYO1A MYO3A

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 via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, high-frequency (onset in childhood-adolescence)
deafness, moderate-severe (onset in third decade)
cochleosaccular dysplasia
organ of corti degeneration


Clinical features from OMIM:

603622

Human phenotypes related to Deafness, Autosomal Dominant 17:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 MYO3A MYO6 MYO7A PTGDR PTGER2 PTGER4
2 cardiovascular system MP:0005385 9.87 APPL1 MYH14 MYH9 MYO6 PTGDR PTGER2
3 hearing/vestibular/ear MP:0005377 9.8 GSDME MYH9 MYO15A MYO1A MYO3A MYO6
4 muscle MP:0005369 9.63 APPL1 MYH14 MYO6 PTGDR PTGER2 PTGER4
5 nervous system MP:0003631 9.61 GSDME MYH14 MYH9 MYO15A MYO3A MYO6
6 no phenotypic analysis MP:0003012 9.02 APPL1 MYH14 MYH9 MYO7A PTGER2

Drugs & Therapeutics for Deafness, Autosomal Dominant 17

Search Clinical Trials , 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

Articles related to Deafness, Autosomal Dominant 17:

# Title Authors Year
1
A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. ( 9390828 )
1997

Variations for Deafness, Autosomal Dominant 17

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

75
# Symbol AA change Variation ID SNP ID
1 MYH9 p.Arg705His VAR_010793 rs80338828

ClinVar genetic disease variations for Deafness, Autosomal Dominant 17:

6
# 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.2114G> A (p.Arg705His) single nucleotide variant Pathogenic rs80338828 GRCh38 Chromosome 22, 36305975: 36305975
3 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh37 Chromosome 22, 36744995: 36744995
4 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh38 Chromosome 22, 36348950: 36348950
5 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh37 Chromosome 22, 36745146: 36745146
6 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh38 Chromosome 22, 36349101: 36349101
7 MYH9 NM_002473.5(MYH9): c.4753_4755delAAG (p.Lys1585del) deletion Uncertain significance rs770925540 GRCh38 Chromosome 22, 36288742: 36288744
8 MYH9 NM_002473.5(MYH9): c.4753_4755delAAG (p.Lys1585del) deletion Uncertain significance rs770925540 GRCh37 Chromosome 22, 36684788: 36684790

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
2
Show member pathways
13.14 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
3
Show member pathways
12.98 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
4
Show member pathways
12.75 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
5
Show member pathways
12.59 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
6
Show member pathways
12.53 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
7 12.3 APPL1 MYH14 MYH9 MYO6
8 11.93 APPL1 PTGER2 PTGER4
9
Show member pathways
11.88 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
10 11.86 PTGDR PTGER2 PTGER4
11 11.43 PTGDR PTGER2 PTGER4
12
Show member pathways
11.33 PTGDR PTGER2 PTGER4
13 11.27 PTGDR PTGER2
14 11.09 PTGDR PTGER2 PTGER4
15 11.03 PTGDR PTGER2 PTGER4
16 10.71 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

GO Terms for Deafness, Autosomal Dominant 17

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

# Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 9.63 MYH9 MYO6 MYO7A
2 microvillus GO:0005902 9.58 MYO1A MYO6 MYO7A
3 brush border GO:0005903 9.5 MYH14 MYH9 MYO1A
4 actomyosin GO:0042641 9.43 MYH14 MYH9
5 myosin II complex GO:0016460 9.37 MYH14 MYH9
6 stereocilium GO:0032420 9.33 MYO15A MYO3A MYO7A
7 myosin II filament GO:0097513 9.26 MYH14 MYH9
8 myosin complex GO:0016459 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
9 filamentous actin GO:0031941 9.13 MYO1A MYO3A MYO6

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 9.58 PTGDR PTGER2 PTGER4
2 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.5 PTGDR PTGER2 PTGER4
3 sensory perception of sound GO:0007605 9.5 GSDME MYH14 MYO15A MYO1A MYO3A MYO6
4 actin filament-based movement GO:0030048 9.46 MYH14 MYH9 MYO6 MYO7A
5 actomyosin structure organization GO:0031032 9.43 MYH14 MYH9
6 cellular response to prostaglandin E stimulus GO:0071380 9.43 PTGDR PTGER2 PTGER4
7 inner ear receptor cell differentiation GO:0060113 9.37 GSDME MYO7A
8 microtubule-based movement GO:0007018 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.91 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
2 actin filament binding GO:0051015 9.85 MYH14 MYH9 MYO1A MYO6 MYO7A
3 nucleotide binding GO:0000166 9.81 MYH14 MYH9 MYO3A MYO7A
4 microtubule binding GO:0008017 9.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
5 ADP binding GO:0043531 9.71 MYH9 MYO3A MYO6 MYO7A
6 calmodulin binding GO:0005516 9.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
7 microfilament motor activity GO:0000146 9.65 MYH9 MYO3A MYO7A
8 actin-dependent ATPase activity GO:0030898 9.62 MYH14 MYH9 MYO3A MYO7A
9 prostaglandin E receptor activity GO:0004957 9.61 PTGDR PTGER2 PTGER4
10 microtubule motor activity GO:0003777 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
11 motor activity GO:0003774 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
12 ATP binding GO:0005524 10.04 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

Sources for Deafness, Autosomal Dominant 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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