DFNA17
MCID: DFN200
MIFTS: 43

Deafness, Autosomal Dominant 17 (DFNA17)

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


HPO:

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


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 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 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 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 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 28)
# Related Disease Score Top Affiliating Genes
1 cochleosaccular degeneration with progressive cataracts 12.3
2 cochleosaccular degeneration of the inner ear and progressive cataracts 12.2
3 deafness, autosomal dominant nonsyndromic sensorineural 17 11.2
4 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.1
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 deafness, autosomal dominant 1 10.2 MYO1A MYO3A
7 deafness, autosomal dominant 21 10.1 GSDME MYH14
8 deafness, autosomal recessive 3 10.1 MYO15A MYO7A
9 deafness, autosomal dominant 20 10.0 GSDME MYH14
10 deafness, autosomal recessive 85 10.0 MYO15A MYO7A
11 deafness, autosomal recessive 83 10.0 MYO15A MYO7A
12 usher syndrome, type ic 10.0 MYO15A MYO7A
13 deafness, autosomal dominant 6 9.9 GSDME MYH14 MYO7A
14 deafness, autosomal dominant 13 9.9 GSDME MYO7A
15 auditory system disease 9.9 MYH9 MYO15A MYO7A
16 inner ear disease 9.9 MYH9 MYO7A
17 non-syndromic genetic deafness 9.8 GSDME MYH9 MYO15A MYO6
18 deafness, autosomal recessive 2 9.8 MYO15A MYO1A MYO6 MYO7A
19 deafness, autosomal dominant 11 9.7 GSDME MYO15A MYO6 MYO7A
20 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 MYH9 MYO15A MYO3A MYO6 MYO7A
21 autosomal dominant nonsyndromic deafness 9.6 GSDME MYH14 MYH9 MYO1A MYO6 MYO7A
22 sensorineural hearing loss 9.5 GSDME MYH14 MYH9 MYO15A MYO6 MYO7A
23 deafness, autosomal dominant 22 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
24 deafness, autosomal recessive 30 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
25 deafness, autosomal recessive 37 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
26 deafness, autosomal dominant 48 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
27 autosomal recessive nonsyndromic deafness 3 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
28 nonsyndromic deafness 9.3 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 APPL1 MYO15A MYO3A MYO6 MYO7A PTGDR
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
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. ( 25505834 )
2014
2
Auditory phenotype of DFNA17. ( 12408071 )
2002
3
A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration. ( 9915977 )
1999
4
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 GRCh38 Chromosome 22, 36349101: 36349101
6 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh37 Chromosome 22, 36745146: 36745146
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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
2
Show member pathways
13.18 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
3
Show member pathways
13.04 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
4
Show member pathways
12.84 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
5
Show member pathways
12.75 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
6
Show member pathways
12.65 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
7 12.33 APPL1 MYH14 MYH9 MYO6
8
Show member pathways
12.08 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
9 11.95 APPL1 PTGER2 PTGER4
10
Show member pathways
11.9 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
11 11.89 PTGDR PTGER2 PTGER4
12 11.46 PTGDR PTGER2 PTGER4
13
Show member pathways
11.37 PTGDR PTGER2 PTGER4
14 11.28 PTGDR PTGER2
15 11.13 PTGDR PTGER2 PTGER4
16 11.08 PTGDR PTGER2 PTGER4
17 11.04 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
18 10.31 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 9.54 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 9.4 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 9.54 PTGDR PTGER2 PTGER4
2 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.43 PTGDR PTGER2 PTGER4
3 actomyosin structure organization GO:0031032 9.4 MYH14 MYH9
4 cellular response to prostaglandin E stimulus GO:0071380 9.32 PTGER2 PTGER4
5 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A
6 sensory perception of sound GO:0007605 9.17 GSDME MYH14 MYO15A MYO1A MYO3A MYO6
7 inner ear receptor cell differentiation GO:0060113 9.16 GSDME MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.98 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
2 actin filament binding GO:0051015 9.8 MYH14 MYH9 MYO1A MYO6 MYO7A
3 actin binding GO:0003779 9.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
4 nucleotide binding GO:0000166 9.78 MYH14 MYH9 MYO3A MYO7A
5 ADP binding GO:0043531 9.67 MYH9 MYO3A MYO6 MYO7A
6 microfilament motor activity GO:0000146 9.62 MYH14 MYH9 MYO3A MYO7A
7 calmodulin binding GO:0005516 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
8 prostaglandin E receptor activity GO:0004957 9.46 PTGER2 PTGER4
9 actin-dependent ATPase activity GO:0030898 9.46 MYH14 MYH9 MYO3A MYO7A
10 motor activity GO:0003774 9.17 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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