DFNA22
MCID: DFN196
MIFTS: 43

Deafness, Autosomal Dominant 22 (DFNA22)

Categories: 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 57 29 13 6
Dfna22 57 12 72
Deafness, Autosomal Dominant 22, with Hypertrophic Cardiomyopathy 57 72
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 72
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22 72
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 70
Deafness, Autosomal Dominant, Type 22 39
Deafness, Autosomal Dominant, 22 72
Autosomal Dominant Deafness 22 12
Dfnhcm 72

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®:

57 (Updated 05-Apr-2021)
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® 57 606346
OMIM Phenotypic Series 57 PS124900
ICD10 32 H90.3
Orphanet 58 ORPHA228012
SNOMED-CT via HPO 68 263681008
UMLS 70 C2931767

Summaries for Deafness, Autosomal Dominant 22

UniProtKB/Swiss-Prot : 72 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. 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 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
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 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 60)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 30.2 MYO7A MYO15A
2 deafness, autosomal recessive 2 30.0 MYO7A MYO3A MYO15A
3 deafness, autosomal dominant 11 29.9 MYO7A MYO3A MYO15A
4 rare genetic deafness 29.7 MYO7A MYO6 MYO3A MYO15A GIPC3
5 autosomal recessive nonsyndromic deafness 3 29.3 TPRN MYO7A MYO6 MYO3A MYO1A MYO15A
6 nonsyndromic hearing loss 29.2 TRIOBP MYO7A MYO6 MYO3A MYO15A MYH14
7 deafness, autosomal recessive 30 29.2 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
8 deafness, autosomal dominant 17 28.9 TPRN MYO7A MYO6 MYO3A MYO1A MYO15A
9 deafness, autosomal dominant 48 28.8 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
10 deafness, autosomal dominant 1, with or without thrombocytopenia 28.6 TRIOBP TPRN PTPRQ MYO7A MYO3A MYO15A
11 sensorineural hearing loss 28.1 TRIOBP TPRN PTPRQ MYO7A MYO6 MYO3A
12 deafness, autosomal recessive 37 27.1 TRIOBP TPRN RGS19 PTPRQ MYO7A MYO6
13 deafness, autosomal recessive 7 10.3 MYO7A MYO15A
14 deafness, autosomal recessive 83 10.2 MYO7A MYO15A
15 deafness, autosomal recessive 18a 10.2 MYO7A MYO15A
16 deafness, autosomal recessive 13 10.2 MYO3A GIPC3
17 usher syndrome, type iid 10.2 MYO7A MYO15A
18 deafness, autosomal dominant 15 10.2 MYO7A MYO6
19 deafness, autosomal recessive 1b 10.2 TPRN MYO15A
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
21 deafness, autosomal dominant 6 10.2 MYO7A MYO15A
22 deafness, autosomal recessive 71 10.2 MYO7A MYO6
23 deafness, autosomal dominant 7 10.2 MYO6 MYO1A
24 deafness, autosomal recessive 16 10.1 PTPRQ MYO15A
25 vestibular disease 10.1 MYO7A MYO15A
26 myh-9 related disease 10.1 MYO7A MYH14
27 deafness, autosomal recessive 63 10.1 MYO7A MYO15A
28 deafness, autosomal recessive 25 10.1 TRIOBP MYO15A
29 deafness, autosomal recessive 79 10.1 TPRN MYO3A MYO15A
30 usher syndrome, type if 10.1 MYO7A MYO15A
31 deafness, x-linked 3 10.1 TRIOBP TPRN
32 deafness, autosomal dominant 9 10.1 MYO7A MYO6
33 deafness, autosomal recessive 23 10.0 PTPRQ MYO7A MYO15A
34 deafness, autosomal recessive 39 10.0 TRIOBP PTPRQ
35 usher syndrome type 2 10.0 PTPRQ MYO7A MYO15A
36 autosomal recessive nonsyndromic deafness 36 10.0 TRIOBP TPRN MYO3A
37 deafness, autosomal recessive 9 10.0 TRIOBP MYO7A MYO15A
38 deafness, autosomal recessive 24 10.0 TRIOBP TPRN MYO15A
39 deafness, autosomal recessive 28 10.0 TRIOBP TPRN MYO15A
40 deafness, autosomal recessive 22 9.9 TRIOBP PTPRQ MYO15A
41 deafness, autosomal dominant 10 9.9 MYO6 MYH14
42 usher syndrome, type iic 9.9 MYO7A MYO15A
43 deafness, autosomal dominant 4a 9.9
44 branchiootic syndrome 1 9.9
45 retinal degeneration 9.9
46 deafness, autosomal dominant nonsyndromic sensorineural 22 9.9
47 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 TRIOBP MYO7A MYO3A MYO15A
48 deafness, autosomal recessive 12 9.8 TRIOBP PTPRQ MYO7A MYO15A
49 deafness, autosomal recessive 61 9.7 TRIOBP TPRN PTPRQ MYO3A
50 usher syndrome, type id 9.7 TPRN PTPRQ MYO7A MYO3A MYO15A

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®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to profound)

Clinical features from OMIM®:

606346 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 22:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 GIPC3 MYO15A MYO1A MYO3A MYO6 MYO7A
2 nervous system MP:0003631 9.28 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

Publications for Deafness, Autosomal Dominant 22

Articles related to Deafness, Autosomal Dominant 22:

(show all 15)
# 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. 61 6 57
18212818 2008
2
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61 6 57
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. 57 61 6
11468689 2001
4
Human deafness mutation of myosin VI (C442Y) accelerates the ADP dissociation rate. 6
15123708 2004
5
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). 57
15060111 2004
6
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern. 61
31103816 2019
7
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
8
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study. 61
29607572 2018
9
Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding. 61
27474411 2016
10
Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics. 61
25999546 2015
11
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
12
Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis. 61
23340379 2013
13
A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation. 61
23635807 2013
14
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations. 61
19893302 2010
15
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:

6 (show top 50) (show all 185)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO6 NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr) SNV Pathogenic 8577 rs121912557 GRCh37: 6:76566915-76566915
GRCh38: 6:75857198-75857198
2 MYO6 NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) SNV Pathogenic 8582 rs121912561 GRCh37: 6:76596598-76596598
GRCh38: 6:75886881-75886881
3 MYO6 NM_004999.4(MYO6):c.2417-1758T>G SNV Pathogenic 8583 rs1562283089 GRCh37: 6:76593963-76593963
GRCh38: 6:75884246-75884246
4 MYO6 NM_004999.4(MYO6):c.1473_1473+2delinsC Indel Pathogenic 236034 rs878853225 GRCh37: 6:76568710-76568712
GRCh38: 6:75858993-75858995
5 MYO6 NM_004999.4(MYO6):c.897G>T (p.Glu299Asp) SNV Pathogenic 402263 rs1060499799 GRCh37: 6:76554694-76554694
GRCh38: 6:75844977-75844977
6 MYO6 NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter) SNV Pathogenic 544693 rs1554218566 GRCh37: 6:76599832-76599832
GRCh38: 6:75890115-75890115
7 MYO6 NM_004999.4(MYO6):c.3765del (p.Cys1256fs) Deletion Pathogenic 813826 rs1582024232 GRCh37: 6:76624636-76624636
GRCh38: 6:75914919-75914919
8 MYO6 NM_004999.4(MYO6):c.1452dup (p.Asn485Ter) Duplication Pathogenic 917516 GRCh37: 6:76568683-76568684
GRCh38: 6:75858966-75858967
9 MYO6 NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) SNV Pathogenic 164634 rs727503326 GRCh37: 6:76554623-76554623
GRCh38: 6:75844906-75844906
10 MYO6 NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) SNV Pathogenic 178957 rs727504567 GRCh37: 6:76538307-76538307
GRCh38: 6:75828590-75828590
11 MYO6 NM_004999.4(MYO6):c.2751dup (p.Gln918fs) Duplication Pathogenic 523937 rs551348450 GRCh37: 6:76599857-76599858
GRCh38: 6:75890140-75890141
12 MYO6 NM_004999.4(MYO6):c.3137+1G>A SNV Pathogenic 1032960 GRCh37: 6:76604978-76604978
GRCh38: 6:75895261-75895261
13 MYO6 NM_004999.4(MYO6):c.2078-2A>G SNV Likely pathogenic 978024 GRCh37: 6:76589535-76589535
GRCh38: 6:75879818-75879818
14 MYO6 NM_004999.4(MYO6):c.647A>T (p.Glu216Val) SNV Conflicting interpretations of pathogenicity 8580 rs121912559 GRCh37: 6:76550395-76550395
GRCh38: 6:75840678-75840678
15 MYO6 NM_004999.4(MYO6):c.*3064A>G SNV Uncertain significance 910894 GRCh37: 6:76627793-76627793
GRCh38: 6:75918076-75918076
16 MYO6 NM_004999.4(MYO6):c.*2838T>G SNV Uncertain significance 908052 GRCh37: 6:76627567-76627567
GRCh38: 6:75917850-75917850
17 MYO6 NM_004999.4(MYO6):c.*2873T>C SNV Uncertain significance 908053 GRCh37: 6:76627602-76627602
GRCh38: 6:75917885-75917885
18 MYO6 NM_004999.4(MYO6):c.*3475G>A SNV Uncertain significance 908113 GRCh37: 6:76628204-76628204
GRCh38: 6:75918487-75918487
19 MYO6 NM_004999.4(MYO6):c.*3926T>C SNV Uncertain significance 908182 GRCh37: 6:76628655-76628655
GRCh38: 6:75918938-75918938
20 MYO6 NM_004999.4(MYO6):c.*4506T>C SNV Uncertain significance 908253 GRCh37: 6:76629235-76629235
GRCh38: 6:75919518-75919518
21 MYO6 NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser) SNV Uncertain significance 800768 rs749985011 GRCh37: 6:76623977-76623977
GRCh38: 6:75914260-75914260
22 MYO6 NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) SNV Uncertain significance 179679 rs727505048 GRCh37: 6:76599831-76599831
GRCh38: 6:75890114-75890114
23 MYO6 NM_004999.4(MYO6):c.548T>A (p.Val183Asp) SNV Uncertain significance 397508 rs1060499650 GRCh37: 6:76545668-76545668
GRCh38: 6:75835951-75835951
24 MYO6 NM_004999.4(MYO6):c.406C>A (p.Arg136=) SNV Uncertain significance 908722 GRCh37: 6:76542573-76542573
GRCh38: 6:75832856-75832856
25 MYO6 NM_004999.4(MYO6):c.1029C>T (p.Gly343=) SNV Uncertain significance 908783 GRCh37: 6:76558199-76558199
GRCh38: 6:75848482-75848482
26 MYO6 NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr) SNV Uncertain significance 908784 GRCh37: 6:76558219-76558219
GRCh38: 6:75848502-75848502
27 MYO6 NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg) SNV Uncertain significance 908844 GRCh37: 6:76591478-76591478
GRCh38: 6:75881761-75881761
28 MYO6 NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg) SNV Uncertain significance 908845 GRCh37: 6:76595766-76595766
GRCh38: 6:75886049-75886049
29 MYO6 NM_004999.4(MYO6):c.*263T>C SNV Uncertain significance 908967 GRCh37: 6:76624992-76624992
GRCh38: 6:75915275-75915275
30 MYO6 NM_004999.4(MYO6):c.*1011T>A SNV Uncertain significance 909028 GRCh37: 6:76625740-76625740
GRCh38: 6:75916023-75916023
31 MYO6 NM_004999.4(MYO6):c.438T>C (p.Ser146=) SNV Uncertain significance 909577 GRCh37: 6:76542605-76542605
GRCh38: 6:75832888-75832888
32 MYO6 NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr) SNV Uncertain significance 909699 GRCh37: 6:76599774-76599774
GRCh38: 6:75890057-75890057
33 MYO6 NM_004999.4(MYO6):c.3439+13G>T SNV Uncertain significance 909765 GRCh37: 6:76621428-76621428
GRCh38: 6:75911711-75911711
34 MYO6 NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) SNV Uncertain significance 909767 GRCh37: 6:76623855-76623855
GRCh38: 6:75914138-75914138
35 MYO6 NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn) SNV Uncertain significance 909768 GRCh37: 6:76623878-76623878
GRCh38: 6:75914161-75914161
36 MYO6 NM_004999.4(MYO6):c.*305T>C SNV Uncertain significance 909841 GRCh37: 6:76625034-76625034
GRCh38: 6:75915317-75915317
37 MYO6 NM_004999.4(MYO6):c.*1324A>G SNV Uncertain significance 909889 GRCh37: 6:76626053-76626053
GRCh38: 6:75916336-75916336
38 MYO6 NM_004999.4(MYO6):c.*1925A>G SNV Uncertain significance 909942 GRCh37: 6:76626654-76626654
GRCh38: 6:75916937-75916937
39 MYO6 NM_004999.4(MYO6):c.*2146A>C SNV Uncertain significance 909943 GRCh37: 6:76626875-76626875
GRCh38: 6:75917158-75917158
40 MYO6 NM_004999.4(MYO6):c.*2976C>T SNV Uncertain significance 910004 GRCh37: 6:76627705-76627705
GRCh38: 6:75917988-75917988
41 MYO6 NM_004999.4(MYO6):c.*3032C>T SNV Uncertain significance 910005 GRCh37: 6:76627761-76627761
GRCh38: 6:75918044-75918044
42 MYO6 NM_004999.4(MYO6):c.*3549C>T SNV Uncertain significance 910063 GRCh37: 6:76628278-76628278
GRCh38: 6:75918561-75918561
43 MYO6 NM_004999.4(MYO6):c.*3660C>T SNV Uncertain significance 910064 GRCh37: 6:76628389-76628389
GRCh38: 6:75918672-75918672
44 MYO6 NM_004999.4(MYO6):c.*3824A>C SNV Uncertain significance 910065 GRCh37: 6:76628553-76628553
GRCh38: 6:75918836-75918836
45 MYO6 NM_004999.4(MYO6):c.*4030G>A SNV Uncertain significance 910127 GRCh37: 6:76628759-76628759
GRCh38: 6:75919042-75919042
46 MYO6 NM_004999.4(MYO6):c.*4032G>A SNV Uncertain significance 910128 GRCh37: 6:76628761-76628761
GRCh38: 6:75919044-75919044
47 MYO6 NM_004999.4(MYO6):c.*4056G>A SNV Uncertain significance 910129 GRCh37: 6:76628785-76628785
GRCh38: 6:75919068-75919068
48 MYO6 NM_004999.4(MYO6):c.600C>T (p.Asn200=) SNV Uncertain significance 45166 rs145665265 GRCh37: 6:76550348-76550348
GRCh38: 6:75840631-75840631
49 MYO6 NM_004999.4(MYO6):c.3597A>G (p.Gly1199=) SNV Uncertain significance 910675 GRCh37: 6:76623937-76623937
GRCh38: 6:75914220-75914220
50 MYO6 NM_004999.4(MYO6):c.3659-10A>G SNV Uncertain significance 910676 GRCh37: 6:76624520-76624520
GRCh38: 6:75914803-75914803

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

72
# 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
13.09 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
Show member pathways
12.38 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 cytoplasm GO:0005737 10.21 TRIOBP RGS19 MYO7A MYO6 MYO3A MYO1B
2 vesicle GO:0031982 9.77 MYO7A MYO6 MYO1B MYO1A MYO15A
3 microvillus GO:0005902 9.71 MYO7A MYO6 MYO1B MYO1A
4 cell cortex GO:0005938 9.67 MYO7A MYO6 GIPC1
5 filopodium GO:0030175 9.63 MYO6 MYO3A MYO1B
6 actin cytoskeleton GO:0015629 9.63 TRIOBP MYO7A MYO6 MYO1B MYO1A MYO15A
7 stereocilium GO:0032420 9.62 TPRN MYO7A MYO3A MYO15A
8 filamentous actin GO:0031941 9.61 MYO6 MYO3A MYO1A
9 stereocilium bundle GO:0032421 9.48 PTPRQ MYO15A
10 stereocilium base GO:0120044 9.43 TRIOBP 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 9.63 TRIOBP MYO7A MYO6 MYO1B MYO1A MYO15A
2 inner ear morphogenesis GO:0042472 9.62 PTPRQ MYO7A MYO6 MYO15A
3 actin filament-based movement GO:0030048 9.56 MYO7A MYO6 MYO1B MYH14
4 auditory receptor cell stereocilium organization GO:0060088 9.54 TRIOBP TPRN MYO7A
5 inner ear auditory receptor cell differentiation GO:0042491 9.4 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 TRIOBP TPRN MYO7A MYO6 MYO3A MYO1A

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
2 ATP binding GO:0005524 9.98 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
3 actin filament binding GO:0051015 9.91 TRIOBP MYO7A MYO6 MYO1B MYO1A MYO15A
4 calmodulin binding GO:0005516 9.87 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
5 actin binding GO:0003779 9.81 TRIOBP MYO7A MYO6 MYO3A MYO1B MYO1A
6 motor activity GO:0003774 9.8 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
7 ADP binding GO:0043531 9.58 MYO7A MYO6 MYO3A
8 actin-dependent ATPase activity GO:0030898 9.5 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
9 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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