DFNA11
MCID: DFN251
MIFTS: 39

Deafness, Autosomal Dominant 11 (DFNA11)

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

Aliases & Classifications for Deafness, Autosomal Dominant 11

MalaCards integrated aliases for Deafness, Autosomal Dominant 11:

Name: Deafness, Autosomal Dominant 11 58 30 13 6 74
Dfna11 58 12 76 56
Autosomal Dominant Nonsyndromic Deafness 11 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11 76
Deafness, Autosomal Dominant, Type 11 41
Deafness, Autosomal Dominant, 11 76
Autosomal Dominant Deafness 11 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset, ranging from childhood to adult
gradual progression of hearing loss
allelic disorder to autosomal recessive hearing loss (dfnb2, ) and usher syndrome type ib


HPO:

33
deafness, autosomal dominant 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110543
OMIM 58 601317
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1832475
UMLS 74 C1832475

Summaries for Deafness, Autosomal Dominant 11

UniProtKB/Swiss-Prot : 76 Deafness, autosomal dominant, 11: 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. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression.

MalaCards based summary : Deafness, Autosomal Dominant 11, also known as dfna11, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal recessive 3. An important gene associated with Deafness, Autosomal Dominant 11 is MYO7A (Myosin VIIA), and among its related pathways/superpathways are Sweet Taste Signaling and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include brain, and related phenotypes are vertigo and bilateral sensorineural hearing impairment

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has material basis in mutation in the MYO7A gene on chromosome 11q13.

OMIM : 58 Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011). (601317)

Related Diseases for Deafness, Autosomal Dominant 11

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
Deafness, Autosomal Recessive 112 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 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
2 deafness, autosomal recessive 3 10.1 MYO15A MYO7A
3 deafness, autosomal dominant 9 9.9 FAM136A GSDME
4 deafness, autosomal recessive 85 9.9 MYO15A MYO7A
5 deafness, autosomal recessive 83 9.9 MYO15A MYO7A
6 usher syndrome, type ic 9.9 MYO15A MYO7A
7 deafness, autosomal dominant 13 9.7 GSDME MYO7A
8 deafness, autosomal dominant 6 9.7 GSDME MYO7A POU4F3
9 auditory system disease 9.7 MYO15A MYO7A POU4F3
10 deafness, autosomal dominant 48 9.6 MYO15A MYO6 MYO7A
11 deafness, autosomal recessive 2 9.6 MYO15A MYO6 MYO7A
12 deafness, autosomal dominant 22 9.6 MYO15A MYO6 MYO7A
13 deafness, autosomal recessive 37 9.6 MYO15A MYO6 MYO7A
14 deafness, autosomal recessive 30 9.6 MYO15A MYO6 MYO7A
15 autosomal recessive nonsyndromic deafness 3 9.6 MYO15A MYO6 MYO7A
16 autosomal dominant nonsyndromic deafness 9.5 MYO6 MYO7A POU4F3
17 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 MYO15A MYO6 MYO7A
18 deafness, autosomal dominant 15 9.5 FAM136A MYO6 POU4F3
19 non-syndromic genetic deafness 9.5 GSDME MYO15A MYO6
20 deafness, autosomal dominant 17 9.3 GSDME MYO15A MYO6 MYO7A
21 sensorineural hearing loss 9.3 GSDME MYO15A MYO6 MYO7A
22 nonsyndromic deafness 9.0 GSDME MYO15A MYO6 MYO7A POU4F3

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 11:



Diseases related to Deafness, Autosomal Dominant 11

Symptoms & Phenotypes for Deafness, Autosomal Dominant 11

Human phenotypes related to Deafness, Autosomal Dominant 11:

33
# Description HPO Frequency HPO Source Accession
1 vertigo 33 HP:0002321
2 bilateral sensorineural hearing impairment 33 HP:0008619

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, sensorineural, moderate, postlingual
audiogram is gently sloping or flat
audiogram may be ascending

Neurologic Central Nervous System:
vestibular dysfunction, mild
vertigo, mild

Clinical features from OMIM:

601317

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 11:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.55 GSDME MYO15A MYO6 MYO7A POU4F3
2 nervous system MP:0003631 9.35 GSDME MYO15A MYO6 MYO7A POU4F3
3 vision/eye MP:0005391 8.92 MYO15A MYO6 MYO7A POU4F3

Drugs & Therapeutics for Deafness, Autosomal Dominant 11

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 11

Genetic Tests for Deafness, Autosomal Dominant 11

Genetic tests related to Deafness, Autosomal Dominant 11:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 11 30 MYO7A

Anatomical Context for Deafness, Autosomal Dominant 11

MalaCards organs/tissues related to Deafness, Autosomal Dominant 11:

42
Brain

Publications for Deafness, Autosomal Dominant 11

Articles related to Deafness, Autosomal Dominant 11:

# Title Authors Year
1
Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11. ( 29400105 )
2018
2
The first sporadic case of DFNA11 identified by next-generation sequencing. ( 28802369 )
2017
3
Cochleovestibular and ocular features in a Dutch DFNA11 family. ( 16639269 )
2006
4
Clinical presentation of DFNA11 (MYO7A). ( 12408067 )
2002
5
Sensorineural hearing impairment non-syndromic, dominant DFNA11. ( 10868221 )
2000

Variations for Deafness, Autosomal Dominant 11

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 11:

76
# Symbol AA change Variation ID SNP ID
1 MYO7A p.Asn458Ile VAR_027306 rs121965084
2 MYO7A p.Gly722Arg VAR_027307
3 MYO7A p.Arg853Cys VAR_027308

ClinVar genetic disease variations for Deafness, Autosomal Dominant 11:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO7A NM_000260.3(MYO7A): c.5495G> A (p.Arg1832Gln) single nucleotide variant Uncertain significance rs372768607 GRCh37 Chromosome 11, 76916521: 76916521
2 MYO7A NM_000260.3(MYO7A): c.5495G> A (p.Arg1832Gln) single nucleotide variant Uncertain significance rs372768607 GRCh38 Chromosome 11, 77205476: 77205476
3 MYO7A NM_000260.3(MYO7A): c.689C> T (p.Ala230Val) single nucleotide variant Pathogenic/Likely pathogenic rs797044512 GRCh37 Chromosome 11, 76868004: 76868004
4 MYO7A NM_000260.3(MYO7A): c.689C> T (p.Ala230Val) single nucleotide variant Pathogenic/Likely pathogenic rs797044512 GRCh38 Chromosome 11, 77156958: 77156958
5 MYO7A MYO7A, 9-BP DEL, EX22 deletion Pathogenic
6 MYO7A NM_000260.3(MYO7A): c.1373A> T (p.Asn458Ile) single nucleotide variant Pathogenic rs121965084 GRCh37 Chromosome 11, 76873195: 76873195
7 MYO7A NM_000260.3(MYO7A): c.1373A> T (p.Asn458Ile) single nucleotide variant Pathogenic rs121965084 GRCh38 Chromosome 11, 77162149: 77162149
8 MYO7A NM_000260.3(MYO7A): c.652G> A (p.Asp218Asn) single nucleotide variant Likely pathogenic rs201539845 GRCh37 Chromosome 11, 76867967: 76867967
9 MYO7A NM_000260.3(MYO7A): c.652G> A (p.Asp218Asn) single nucleotide variant Likely pathogenic rs201539845 GRCh38 Chromosome 11, 77156921: 77156921
10 MYO7A NM_000260.3(MYO7A): c.2011G> A (p.Gly671Ser) single nucleotide variant Uncertain significance rs387906699 GRCh37 Chromosome 11, 76885877: 76885877
11 MYO7A NM_000260.3(MYO7A): c.2011G> A (p.Gly671Ser) single nucleotide variant Uncertain significance rs387906699 GRCh38 Chromosome 11, 77174831: 77174831
12 MYO7A NM_000260.3(MYO7A): c.3750+5G> A single nucleotide variant Uncertain significance rs111033391 GRCh37 Chromosome 11, 76901189: 76901189
13 MYO7A NM_000260.3(MYO7A): c.3750+5G> A single nucleotide variant Uncertain significance rs111033391 GRCh38 Chromosome 11, 77190144: 77190144
14 MYO7A NM_000260.3(MYO7A): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs111033283 GRCh37 Chromosome 11, 76867955: 76867955
15 MYO7A NM_000260.3(MYO7A): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs111033283 GRCh38 Chromosome 11, 77156909: 77156909
16 MYO7A NM_001127180.1(MYO7A): c.439C> T (p.Arg147Cys) single nucleotide variant Likely pathogenic rs782808261 GRCh37 Chromosome 11, 76867106: 76867106
17 MYO7A NM_001127180.1(MYO7A): c.439C> T (p.Arg147Cys) single nucleotide variant Likely pathogenic rs782808261 GRCh38 Chromosome 11, 77156060: 77156060
18 MYO7A NM_000260.3(MYO7A): c.779A> C (p.Glu260Ala) single nucleotide variant Uncertain significance rs782636303 GRCh38 Chromosome 11, 77157322: 77157322
19 MYO7A NM_000260.3(MYO7A): c.779A> C (p.Glu260Ala) single nucleotide variant Uncertain significance rs782636303 GRCh37 Chromosome 11, 76868368: 76868368

Expression for Deafness, Autosomal Dominant 11

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 11.

Pathways for Deafness, Autosomal Dominant 11

GO Terms for Deafness, Autosomal Dominant 11

Cellular components related to Deafness, Autosomal Dominant 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 FAM136A GSDME MYO15A MYO6 MYO7A POU4F3
2 cell cortex GO:0005938 9.32 MYO6 MYO7A
3 microvillus GO:0005902 9.16 MYO6 MYO7A
4 stereocilium GO:0032420 8.96 MYO15A MYO7A
5 myosin complex GO:0016459 8.8 MYO15A MYO6 MYO7A

Biological processes related to Deafness, Autosomal Dominant 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.37 MYO7A POU4F3
2 inner ear morphogenesis GO:0042472 9.33 MYO15A MYO7A POU4F3
3 actin filament-based movement GO:0030048 9.32 MYO6 MYO7A
4 inner ear auditory receptor cell differentiation GO:0042491 9.26 MYO7A POU4F3
5 inner ear receptor cell differentiation GO:0060113 9.13 GSDME MYO7A POU4F3
6 sensory perception of sound GO:0007605 9.02 GSDME MYO15A MYO6 MYO7A POU4F3

Molecular functions related to Deafness, Autosomal Dominant 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.43 MYO15A MYO6 MYO7A
2 ADP binding GO:0043531 9.16 MYO6 MYO7A
3 calmodulin binding GO:0005516 9.13 MYO15A MYO6 MYO7A
4 motor activity GO:0003774 8.8 MYO15A MYO6 MYO7A

Sources for Deafness, Autosomal Dominant 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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