DFNA22
MCID: DFN196
MIFTS: 44

Deafness, Autosomal Dominant 22 (DFNA22)

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

Aliases & Classifications for Deafness, Autosomal Dominant 22

MalaCards integrated aliases for Deafness, Autosomal Dominant 22:

Name: Deafness, Autosomal Dominant 22 56 29 13 6
Dfna22 56 12 73
Deafness, Autosomal Dominant 22, with Hypertrophic Cardiomyopathy 56 73
Autosomal Dominant Nonsyndromic Deafness 22 12 15
Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome 58
Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome 58
Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome 58
Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome 58
Deafness with Hypertrophic Cardiomyopathy, Autosomal Dominant, Type 22 29
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22 73
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 71
Deafness, Autosomal Dominant, Type 22 39
Deafness, Autosomal Dominant, 22 73
Autosomal Dominant Deafness 22 12
Dfnhcm 73

Characteristics:

Orphanet epidemiological data:

58
progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age


HPO:

31
deafness, autosomal dominant 22:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110552
OMIM 56 606346
OMIM Phenotypic Series 56 PS124900
ICD10 32 H90.3
Orphanet 58 ORPHA228012
SNOMED-CT via HPO 68 263681008
UMLS 71 C2931767

Summaries for Deafness, Autosomal Dominant 22

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy: An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy.
Deafness, autosomal dominant, 22: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness.

MalaCards based summary : Deafness, Autosomal Dominant 22, also known as dfna22, is related to deafness, autosomal recessive 3 and deafness, autosomal recessive 2. An important gene associated with Deafness, Autosomal Dominant 22 is MYO6 (Myosin VI), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include brain, and related phenotypes are progressive sensorineural hearing impairment and hearing/vestibular/ear

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 MYO6 gene on chromosome 6q14.

More information from OMIM: 606346 PS124900

Related Diseases for Deafness, Autosomal Dominant 22

Diseases in the Rare 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
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 30.7 MYO7A MYO15A
2 deafness, autosomal recessive 2 30.3 MYO7A MYO3A MYO15A
3 autosomal recessive nonsyndromic deafness 3 29.7 TPRN MYO7A MYO6 MYO3A MYO15A
4 branchiootic syndrome 1 29.7 PTPRQ MYO7A
5 deafness, autosomal dominant 11 29.5 MYO7A MYO6 MYO3A MYO15A COCH
6 deafness, autosomal recessive 30 29.2 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
7 nonsyndromic hearing loss 29.2 MYO7A MYO6 MYO3A MYO15A MYH14 COCH
8 deafness, autosomal dominant 1 29.1 TPRN PTPRQ MYO7A MYO3A MYO15A MYH14
9 deafness, autosomal dominant 17 28.9 TPRN MYO7A MYO6 MYO3A MYO1A MYO15A
10 deafness, autosomal dominant 48 28.3 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
11 sensorineural hearing loss 28.3 TPRN PTPRQ MYO7A MYO6 MYO15A MYH14
12 deafness, autosomal recessive 37 26.6 TPRN RGS19 PTPRQ MYO7A MYO6 MYO3A
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
14 deafness, autosomal recessive 7 10.4 MYO7A MYO15A
15 deafness, autosomal recessive 18a 10.3 MYO7A MYO15A
16 deafness, autosomal recessive 9 10.3 MYO7A MYO15A
17 deafness, autosomal recessive 63 10.3 MYO7A MYO15A
18 autosomal recessive nonsyndromic deafness 36 10.3 TPRN MYO3A
19 deafness, autosomal recessive 28 10.2 TPRN MYO15A
20 deafness, autosomal recessive 13 10.2 MYO3A GIPC3
21 deafness, autosomal recessive 1b 10.2 TPRN MYO15A
22 usher syndrome, type iid 10.2 MYO7A MYO15A
23 deafness, autosomal recessive 22 10.2 PTPRQ MYO15A
24 deafness, autosomal recessive 24 10.2 TPRN MYO15A
25 deafness, autosomal dominant 43 10.2 MYO6 COCH
26 deafness, autosomal recessive 16 10.1 PTPRQ MYO15A
27 deafness, autosomal recessive 23 10.1 MYO7A MYO15A
28 usher syndrome, type if 10.1 MYO7A MYO15A
29 deafness, autosomal dominant 4a 10.1
30 retinal degeneration 10.1
31 deafness, autosomal recessive 91 10.1 TPRN COCH
32 deafness, autosomal dominant 25 10.0 MYO7A COCH
33 deafness, autosomal recessive 83 10.0 PTPRQ MYO7A MYO15A
34 usher syndrome, type iic 10.0 PTPRQ MYO7A MYO15A
35 usher syndrome, type id 10.0 PTPRQ MYO7A MYO15A
36 deafness, autosomal recessive 12 10.0 PTPRQ MYO7A MYO15A
37 usher syndrome type 2 10.0 PTPRQ MYO7A MYO15A
38 deafness, autosomal recessive 61 10.0 TPRN PTPRQ MYO3A
39 non-syndromic genetic deafness 10.0 MYO3A MYO15A COCH
40 deafness, autosomal dominant 6 10.0 MYO7A COCH
41 deafness, autosomal dominant 15 10.0 MYO7A MYO6 COCH
42 deafness, autosomal dominant 9 10.0 MYO7A MYO6 COCH
43 deafness, autosomal dominant 20 10.0 TPRN COCH
44 vestibular disease 9.9 MYO7A MYO15A COCH
45 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 MYO7A MYO15A COCH
46 peripheral vertigo 9.9 MYO7A COCH
47 deafness, autosomal dominant 16 9.9 MYO6 MYH14 COCH
48 deafness, autosomal recessive 79 9.8 TPRN PTPRQ MYO3A MYO15A
49 deafness, autosomal recessive 1a 9.8 MYO7A COCH
50 autosomal recessive nonsyndromic deafness 9.6 TPRN MYO7A MYO3A MYO15A GIPC3

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 22:



Diseases related to Deafness, Autosomal Dominant 22

Symptoms & Phenotypes for Deafness, Autosomal Dominant 22

Human phenotypes related to Deafness, Autosomal Dominant 22:

31
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to profound)

Clinical features from OMIM:

606346

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 22:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 COCH GIPC3 MYO15A MYO1A MYO3A MYO6
2 nervous system MP:0003631 9.23 GIPC3 MYH14 MYO15A MYO3A MYO6 MYO7A

Drugs & Therapeutics for Deafness, Autosomal Dominant 22

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 22

Genetic Tests for Deafness, Autosomal Dominant 22

Genetic tests related to Deafness, Autosomal Dominant 22:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 22 29 MYO6
2 Deafness with Hypertrophic Cardiomyopathy, Autosomal Dominant, Type 22 29

Anatomical Context for Deafness, Autosomal Dominant 22

MalaCards organs/tissues related to Deafness, Autosomal Dominant 22:

40
Brain

Publications for Deafness, Autosomal Dominant 22

Articles related to Deafness, Autosomal Dominant 22:

(show all 17)
# Title Authors PMID Year
1
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss. 6 61 56
18212818 2008
2
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 6 56 61
18348273 2008
3
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. 61 56 6
11468689 2001
4
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
5
Human deafness mutation of myosin VI (C442Y) accelerates the ADP dissociation rate. 6
15123708 2004
6
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). 56
15060111 2004
7
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
8
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern. 61
31103816 2019
9
Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing. 61
30175721 2018
10
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study. 61
29607572 2018
11
Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding. 61
27474411 2016
12
Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics. 61
25999546 2015
13
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family. 61
25227905 2014
14
Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis. 61
23340379 2013
15
A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation. 61
23635807 2013
16
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations. 61
19893302 2010
17
Mutations of MYO6 are associated with recessive deafness, DFNB37. 61
12687499 2003

Variations for Deafness, Autosomal Dominant 22

ClinVar genetic disease variations for Deafness, Autosomal Dominant 22:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO6 NM_004999.4(MYO6):c.897G>T (p.Glu299Asp)SNV Pathogenic 402263 rs1060499799 6:76554694-76554694 6:75844977-75844977
2 MYO6 NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter)SNV Pathogenic 544693 rs1554218566 6:76599832-76599832 6:75890115-75890115
3 MYO6 NM_004999.4(MYO6):c.3765del (p.Cys1256fs)deletion Pathogenic 813826 6:76624636-76624636 6:75914919-75914919
4 MYO6 NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr)SNV Pathogenic 8577 rs121912557 6:76566915-76566915 6:75857198-75857198
5 MYO6 NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter)SNV Pathogenic 8582 rs121912561 6:76596598-76596598 6:75886881-75886881
6 MYO6 NM_004999.4(MYO6):c.2417-1758T>GSNV Pathogenic 8583 rs1562283089 6:76593963-76593963 6:75884246-75884246
7 MYO6 NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)SNV Pathogenic 164634 rs727503326 6:76554623-76554623 6:75844906-75844906
8 MYO6 NM_004999.4(MYO6):c.1473_1473+2delinsCindel Pathogenic 236034 rs878853225 6:76568710-76568712 6:75858993-75858995
9 MYO6 NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)SNV Likely pathogenic 178957 rs727504567 6:76538307-76538307 6:75828590-75828590
10 MYO6 NM_004999.4(MYO6):c.441C>T (p.Ile147=)SNV Conflicting interpretations of pathogenicity 180087 rs565770950 6:76542608-76542608 6:75832891-75832891
11 MYO6 NM_004999.4(MYO6):c.1674+13A>GSNV Conflicting interpretations of pathogenicity 178623 rs6925845 6:76572453-76572453 6:75862736-75862736
12 MYO6 NM_004999.4(MYO6):c.2595C>T (p.Pro865=)SNV Conflicting interpretations of pathogenicity 178474 rs150876010 6:76596648-76596648 6:75886931-75886931
13 MYO6 NM_004999.4(MYO6):c.600C>T (p.Asn200=)SNV Conflicting interpretations of pathogenicity 45166 rs145665265 6:76550348-76550348 6:75840631-75840631
14 MYO6 NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)SNV Conflicting interpretations of pathogenicity 45144 rs55662069 6:76596587-76596587 6:75886870-75886870
15 MYO6 NM_004999.4(MYO6):c.2982G>A (p.Glu994=)SNV Conflicting interpretations of pathogenicity 45151 rs55905349 6:76602282-76602282 6:75892565-75892565
16 MYO6 NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)SNV Conflicting interpretations of pathogenicity 45153 rs202214380 6:76608128-76608128 6:75898411-75898411
17 MYO6 NM_004999.4(MYO6):c.3333G>A (p.Val1111=)SNV Conflicting interpretations of pathogenicity 45155 rs114970874 6:76618265-76618265 6:75908548-75908548
18 MYO6 NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg)SNV Conflicting interpretations of pathogenicity 45158 rs61734891 6:76623903-76623903 6:75914186-75914186
19 MYO6 NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn)SNV Conflicting interpretations of pathogenicity 45159 rs41269323 6:76624538-76624538 6:75914821-75914821
20 MYO6 NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys)SNV Conflicting interpretations of pathogenicity 45160 rs146461956 6:76624695-76624695 6:75914978-75914978
21 MYO6 NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn)SNV Conflicting interpretations of pathogenicity 259604 rs111530469 6:76564921-76564921 6:75855204-75855204
22 MYO6 NM_004999.4(MYO6):c.2517T>C (p.Gly839=)SNV Conflicting interpretations of pathogenicity 259605 rs112597191 6:76596570-76596570 6:75886853-75886853
23 MYO6 NM_004999.4(MYO6):c.262-9C>TSNV Conflicting interpretations of pathogenicity 357989 rs187811833 6:76540124-76540124 6:75830407-75830407
24 MYO6 NM_004999.4(MYO6):c.1180G>A (p.Val394Ile)SNV Conflicting interpretations of pathogenicity 357994 rs373519764 6:76564957-76564957 6:75855240-75855240
25 MYO6 NM_004999.4(MYO6):c.*1607C>TSNV Conflicting interpretations of pathogenicity 358018 rs77813459 6:76626336-76626336 6:75916619-75916619
26 MYO6 NM_004999.4(MYO6):c.*1738A>GSNV Conflicting interpretations of pathogenicity 358021 rs193019967 6:76626467-76626467 6:75916750-75916750
27 MYO6 NM_004999.4(MYO6):c.*1785A>CSNV Conflicting interpretations of pathogenicity 358022 rs139803503 6:76626514-76626514 6:75916797-75916797
28 MYO6 NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=)SNV Conflicting interpretations of pathogenicity 164644 rs138437852 6:76617391-76617391 6:75907674-75907674
29 MYO6 NM_004999.4(MYO6):c.188-3T>CSNV Conflicting interpretations of pathogenicity 227673 rs373199401 6:76538254-76538254 6:75828537-75828537
30 MYO6 NM_004999.4(MYO6):c.*2547G>ASNV Conflicting interpretations of pathogenicity 358031 rs148652044 6:76627276-76627276 6:75917559-75917559
31 MYO6 NM_004999.4(MYO6):c.*4481T>CSNV Conflicting interpretations of pathogenicity 358063 rs142744723 6:76629210-76629210 6:75919493-75919493
32 MYO6 NM_004999.4(MYO6):c.*875C>TSNV Conflicting interpretations of pathogenicity 358008 rs184099248 6:76625604-76625604 6:75915887-75915887
33 MYO6 NM_004999.4(MYO6):c.*1232C>TSNV Conflicting interpretations of pathogenicity 358012 rs182487428 6:76625961-76625961 6:75916244-75916244
34 MYO6 NM_004999.4(MYO6):c.*2996A>GSNV Conflicting interpretations of pathogenicity 358037 rs536099586 6:76627725-76627725 6:75918008-75918008
35 MYO6 NM_004999.4(MYO6):c.*3230T>CSNV Conflicting interpretations of pathogenicity 358039 rs562815854 6:76627959-76627959 6:75918242-75918242
36 MYO6 NM_004999.4(MYO6):c.-49C>GSNV Conflicting interpretations of pathogenicity 357987 rs149130280 6:76459139-76459139 6:75749422-75749422
37 MYO6 NM_004999.4(MYO6):c.*3879G>ASNV Conflicting interpretations of pathogenicity 358051 rs189646143 6:76628608-76628608 6:75918891-75918891
38 MYO6 NM_004999.4(MYO6):c.2672C>T (p.Thr891Met)SNV Conflicting interpretations of pathogenicity 357997 rs146682372 6:76599787-76599787 6:75890070-75890070
39 MYO6 NM_004999.4(MYO6):c.*1528C>TSNV Conflicting interpretations of pathogenicity 358017 rs188719640 6:76626257-76626257 6:75916540-75916540
40 MYO6 NM_004999.4(MYO6):c.*1627A>GSNV Conflicting interpretations of pathogenicity 358019 rs147347025 6:76626356-76626356 6:75916639-75916639
41 MYO6 NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)SNV Conflicting interpretations of pathogenicity 45132 rs199798449 6:76558200-76558200 6:75848483-75848483
42 MYO6 NM_004999.4(MYO6):c.1224-4A>GSNV Conflicting interpretations of pathogenicity 45136 rs144031818 6:76566810-76566810 6:75857093-75857093
43 MYO6 NM_004999.4(MYO6):c.1656G>A (p.Lys552=)SNV Conflicting interpretations of pathogenicity 45138 rs111033431 6:76572422-76572422 6:75862705-75862705
44 MYO6 NM_004999.4(MYO6):c.647A>T (p.Glu216Val)SNV Conflicting interpretations of pathogenicity 8580 rs121912559 6:76550395-76550395 6:75840678-75840678
45 MYO6 NM_004999.4(MYO6):c.553+10A>GSNV Conflicting interpretations of pathogenicity 909578 6:76545683-76545683 6:75835966-75835966
46 MYO6 NM_004999.4(MYO6):c.*3039A>GSNV Conflicting interpretations of pathogenicity 910893 6:76627768-76627768 6:75918051-75918051
47 MYO6 NM_004999.4(MYO6):c.*4446A>GSNV Conflicting interpretations of pathogenicity 908252 6:76629175-76629175 6:75919458-75919458
48 MYO6 NM_004999.4(MYO6):c.*3288T>CSNV Conflicting interpretations of pathogenicity 910895 6:76628017-76628017 6:75918300-75918300
49 MYO6 NM_004999.4(MYO6):c.*186A>GSNV Conflicting interpretations of pathogenicity 908966 6:76624915-76624915 6:75915198-75915198
50 MYO6 NM_004999.4(MYO6):c.*1287T>ASNV Conflicting interpretations of pathogenicity 909888 6:76626016-76626016 6:75916299-75916299

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 22:

73
# Symbol AA change Variation ID SNP ID
1 MYO6 p.Cys442Tyr VAR_012110
2 MYO6 p.His246Arg VAR_029988 rs121912560

Expression for Deafness, Autosomal Dominant 22

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 22.

Pathways for Deafness, Autosomal Dominant 22

Pathways related to Deafness, Autosomal Dominant 22 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
2
Show member pathways
13.12 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
3
Show member pathways
12.99 PTPRQ MYO7A MYO6 MYO3A MYO1B MYO1A
4
Show member pathways
12.8 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
5
Show member pathways
12.59 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
6
Show member pathways
12.53 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
7 11.99 MYO6 MYO1B MYO1A MYH14
8
Show member pathways
11.88 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
9 10.71 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

GO Terms for Deafness, Autosomal Dominant 22

Cellular components related to Deafness, Autosomal Dominant 22 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.91 MYO7A MYO6 MYO1B MYO1A MYO15A
2 actin cytoskeleton GO:0015629 9.77 MYO7A MYO6 MYO1B MYO1A MYO15A
3 cell cortex GO:0005938 9.67 MYO7A MYO6 GIPC1
4 vesicle GO:0031982 9.65 MYO7A MYO6 MYO1B MYO1A MYO15A
5 filopodium GO:0030175 9.63 MYO6 MYO3A MYO1B
6 microvillus GO:0005902 9.62 MYO7A MYO6 MYO1B MYO1A
7 filamentous actin GO:0031941 9.58 MYO6 MYO3A MYO1A
8 stereocilium bundle GO:0032421 9.48 PTPRQ MYO15A
9 stereocilium GO:0032420 9.46 TPRN MYO7A MYO3A MYO15A
10 stereocilium base GO:0120044 9.43 TPRN MYO7A
11 brush border GO:0005903 9.35 RGS19 MYO1B MYO1A MYH14 GIPC1
12 myosin complex GO:0016459 9.17 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

Biological processes related to Deafness, Autosomal Dominant 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.65 MYO7A MYO6 MYO1B MYO1A MYO15A
2 inner ear morphogenesis GO:0042472 9.62 PTPRQ MYO7A MYO6 MYO15A
3 actin filament-based movement GO:0030048 9.46 MYO7A MYO6 MYO1B MYH14
4 auditory receptor cell stereocilium organization GO:0060088 9.4 TPRN MYO7A
5 inner ear auditory receptor cell differentiation GO:0042491 9.37 MYO7A MYO6
6 vesicle transport along actin filament GO:0030050 9.35 MYO7A MYO6 MYO1B MYO1A MYO15A
7 sensory perception of sound GO:0007605 9.23 TPRN MYO7A MYO6 MYO3A MYO1A MYO15A

Molecular functions related to Deafness, Autosomal Dominant 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.29 TPRN RGS19 PTPRQ MYO7A MYO6 MYO3A
2 nucleotide binding GO:0000166 10 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
3 ATP binding GO:0005524 9.98 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
4 actin binding GO:0003779 9.92 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
5 actin filament binding GO:0051015 9.85 MYO7A MYO6 MYO1B MYO1A MYO15A MYH14
6 calmodulin binding GO:0005516 9.8 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
7 motor activity GO:0003774 9.7 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
8 ADP binding GO:0043531 9.58 MYO7A MYO6 MYO3A
9 actin-dependent ATPase activity GO:0030898 9.5 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
10 microfilament motor activity GO:0000146 9.17 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

Sources for Deafness, Autosomal Dominant 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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