MCID: DFN196
MIFTS: 38

Deafness, Autosomal Dominant 22

Categories: Genetic diseases, Ear diseases, Fetal diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Blood 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 75
Deafness, Autosomal Dominant 22, with Hypertrophic Cardiomyopathy 57 75
Autosomal Dominant Nonsyndromic Deafness 22 12 15
Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome 59
Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome 59
Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome 59
Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome 59
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22 75
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 73
Deafness, Autosomal Dominant, Type 22 40
Deafness, Autosomal Dominant, 22 75
Autosomal Dominant Deafness 22 12
Dfnhcm 75

Characteristics:

Orphanet epidemiological data:

59
progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
deafness, autosomal dominant 22:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606346
Disease Ontology 12 DOID:0110552
ICD10 33 H90.3
Orphanet 59 ORPHA228012
SNOMED-CT via HPO 69 263681008
UMLS 73 C2931767

Summaries for Deafness, Autosomal Dominant 22

UniProtKB/Swiss-Prot : 75 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 sensorineural hearing loss and deafness, autosomal dominant 1. 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 Decreased CYP1A1 activity after TCDD stimulation

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.

Description from OMIM: 606346

Related Diseases for Deafness, Autosomal Dominant 22

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 22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 28.0 COCH MYH9 MYO15A MYO6 MYO7A
2 deafness, autosomal dominant 1 10.3 MYO1A MYO3A
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 deafness, autosomal recessive 3 10.1 MYO15A MYO7A
5 deafness, autosomal recessive 85 10.0 MYO15A MYO7A
6 deafness, autosomal recessive 83 9.9 MYO15A MYO7A
7 deafness, autosomal dominant 11 9.8 MYO15A MYO6 MYO7A
8 deafness, autosomal recessive 16 9.7 COCH MYO7A
9 deafness, autosomal dominant 6 9.6 COCH MYH14 MYO7A
10 deafness, autosomal recessive 2 9.5 MYO15A MYO1A MYO6 MYO7A
11 deafness, autosomal dominant 13 9.4 COCH MYO7A
12 inner ear disease 9.3 COCH MYH9 MYO7A
13 non-syndromic genetic deafness 9.2 COCH MYH9 MYO15A MYO6
14 auditory system disease 8.9 COCH MYH9 MYO15A MYO7A
15 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.8 MYH9 MYO15A MYO3A MYO6 MYO7A
16 autosomal dominant non-syndromic sensorineural deafness type dfna 8.3 COCH MYH14 MYH9 MYO1A MYO6 MYO7A
17 autosomal dominant nonsyndromic deafness 8.3 COCH MYH14 MYH9 MYO1A MYO6 MYO7A
18 deafness, autosomal dominant 17 8.1 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
19 deafness, autosomal recessive 30 8.1 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
20 deafness, autosomal dominant 48 8.1 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
21 autosomal recessive nonsyndromic deafness 3 8.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
22 nonsyndromic deafness 7.5 COCH MYH14 MYH9 MYO15A MYO1A MYO3A
23 deafness, autosomal recessive 37 6.0 DAB2 LMTK2 MYH14 MYH9 MYO15A MYO1A

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to profound)


Clinical features from OMIM:

606346

Human phenotypes related to Deafness, Autosomal Dominant 22:

32
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 32 HP:0000408

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased CYP1A1 activity after TCDD stimulation GR00155-A 8.96 LMTK2 MYO3A
2 Decreased Salmonella enterica Typhimurium effector injection GR00133-A-4 8.62 MYO3A TOM1

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 22:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 COCH MYH9 MYO15A MYO1A MYO3A MYO6
2 nervous system MP:0003631 9.17 LMTK2 MYH14 MYH9 MYO15A MYO3A MYO6

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

Anatomical Context for Deafness, Autosomal Dominant 22

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

41
Brain

Publications for Deafness, Autosomal Dominant 22

Variations for Deafness, Autosomal Dominant 22

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

75
# Symbol AA change Variation ID SNP ID
1 MYO6 p.Cys442Tyr VAR_012110
2 MYO6 p.His246Arg VAR_029988 rs121912560

ClinVar genetic disease variations for Deafness, Autosomal Dominant 22:

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO6 NM_004999.3(MYO6): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs121912557 GRCh37 Chromosome 6, 76566915: 76566915
2 MYO6 NM_004999.3(MYO6): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs121912557 GRCh38 Chromosome 6, 75857198: 75857198
3 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh37 Chromosome 6, 76596598: 76596598
4 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh38 Chromosome 6, 75886881: 75886881
5 MYO6 MYO6, IVS23, T-G, +2321 single nucleotide variant Pathogenic
6 MYO6 NM_004999.3(MYO6): c.2716T> C (p.Ser906Pro) single nucleotide variant Uncertain significance rs727505048 GRCh37 Chromosome 6, 76599831: 76599831
7 MYO6 NM_004999.3(MYO6): c.2716T> C (p.Ser906Pro) single nucleotide variant Uncertain significance rs727505048 GRCh38 Chromosome 6, 75890114: 75890114
8 MYO6 NM_004999.3(MYO6): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs727503326 GRCh37 Chromosome 6, 76554623: 76554623
9 MYO6 NM_004999.3(MYO6): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs727503326 GRCh38 Chromosome 6, 75844906: 75844906
10 MYO6 NM_004999.3(MYO6): c.1473_1473+2delGGTinsC indel Pathogenic rs878853225 GRCh37 Chromosome 6, 76568710: 76568712
11 MYO6 NM_004999.3(MYO6): c.1473_1473+2delGGTinsC indel Pathogenic rs878853225 GRCh38 Chromosome 6, 75858993: 75858995
12 MYO6 NM_004999.3(MYO6): c.548T> A (p.Val183Asp) single nucleotide variant Uncertain significance rs1060499650 GRCh37 Chromosome 6, 76545668: 76545668
13 MYO6 NM_004999.3(MYO6): c.548T> A (p.Val183Asp) single nucleotide variant Uncertain significance rs1060499650 GRCh38 Chromosome 6, 75835951: 75835951
14 MYO6 NM_004999.3(MYO6): c.897G> T (p.Glu299Asp) single nucleotide variant Pathogenic rs1060499799 GRCh38 Chromosome 6, 75844977: 75844977
15 MYO6 NM_004999.3(MYO6): c.897G> T (p.Glu299Asp) single nucleotide variant Pathogenic rs1060499799 GRCh37 Chromosome 6, 76554694: 76554694
16 MYO6 NM_004999.3(MYO6): c.2717C> A (p.Ser906Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 76599832: 76599832
17 MYO6 NM_004999.3(MYO6): c.2717C> A (p.Ser906Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 75890115: 75890115

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
13.5 LMTK2 MYH14 MYH9 MYO15A MYO1A MYO3A
2
Show member pathways
13.09 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
12.59 LMTK2 MYH14 MYH9 MYO15A MYO1A MYO3A
7 12.25 DAB2 MYH14 MYH9 MYO6
8
Show member pathways
11.88 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
9 10.71 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

GO Terms for Deafness, Autosomal Dominant 22

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.71 DAB2 MYO6 MYO7A
2 cell cortex GO:0005938 9.65 MYH9 MYO6 MYO7A
3 microvillus GO:0005902 9.54 MYO1A MYO6 MYO7A
4 stress fiber GO:0001725 9.52 MYH14 MYH9
5 clathrin-coated vesicle membrane GO:0030665 9.51 DAB2 MYO6
6 brush border GO:0005903 9.5 MYH14 MYH9 MYO1A
7 actomyosin GO:0042641 9.43 MYH14 MYH9
8 myosin II complex GO:0016460 9.4 MYH14 MYH9
9 stereocilium GO:0032420 9.33 MYO15A MYO3A MYO7A
10 myosin II filament GO:0097513 9.26 MYH14 MYH9
11 myosin complex GO:0016459 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
12 filamentous actin GO:0031941 9.13 MYO1A MYO3A MYO6
13 cytoplasm GO:0005737 10.16 DAB2 LMTK2 MYH14 MYH9 MYO15A MYO1A
14 extracellular exosome GO:0070062 10.04 COCH DAB2 MYH14 MYH9 MYO15A MYO6

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.71 DAB2 MYH9 MYO6 TOM1
2 endocytosis GO:0006897 9.54 DAB2 MYO6 TOM1
3 sensory perception of sound GO:0007605 9.5 COCH MYH14 MYO15A MYO1A MYO3A MYO6
4 actin filament-based movement GO:0030048 9.46 MYH14 MYH9 MYO6 MYO7A
5 regulation of cell shape GO:0008360 9.43 COCH MYH14 MYH9
6 actomyosin structure organization GO:0031032 9.32 MYH14 MYH9
7 microtubule-based movement GO:0007018 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

Molecular functions related to Deafness, Autosomal Dominant 22 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 9.83 MYH14 MYH9 MYO1A MYO6 MYO7A
3 nucleotide binding GO:0000166 9.8 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 microtubule motor activity GO:0003777 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
10 motor activity GO:0003774 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
11 protein binding GO:0005515 10.25 COCH DAB2 LMTK2 MYH14 MYH9 MYO15A
12 ATP binding GO:0005524 10.06 LMTK2 MYH14 MYH9 MYO15A MYO1A MYO3A

Sources for Deafness, Autosomal Dominant 22

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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