MCID: DFN251
MIFTS: 41

Deafness, Autosomal Dominant 11

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

Aliases & Classifications for Deafness, Autosomal Dominant 11

MalaCards integrated aliases for Deafness, Autosomal Dominant 11:

Name: Deafness, Autosomal Dominant 11 53 28 13 69
Dfna11 53 12 71 51
Autosomal Dominant Nonsyndromic Deafness 11 12 14
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11 71
Deafness, Autosomal Dominant, 11 71
Autosomal Dominant Deafness 11 12

Characteristics:

OMIM:

53
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:

31
deafness, autosomal dominant 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 601317
Disease Ontology 12 DOID:0110543
ICD10 32 H90.3
MedGen 39 C1832475
MeSH 41 D006319
UMLS 69 C1832475

Summaries for Deafness, Autosomal Dominant 11

UniProtKB/Swiss-Prot : 71 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 deafness, autosomal recessive 2 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including vertigo and bilateral sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 11 is MYO7A (Myosin VIIA), and among its related pathways/superpathways are PAK Pathway and Sweet Taste Signaling. Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and vision/eye

OMIM : 53 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)

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.

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 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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 deafness, autosomal recessive 2 28.5 MYO15A MYO1A MYO6 MYO7A
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 branchiootic syndrome 1 9.9
4 deafness, autosomal dominant 9 9.9 FAM136A POU4F3
5 deafness, autosomal recessive 3 9.8 MYO15A MYO7A
6 deafness, autosomal recessive 85 9.7 MYO15A MYO7A
7 non-syndromic genetic deafness 9.6 MYO15A MYO6
8 deafness, autosomal dominant 6 9.6 MYO7A POU4F3
9 deafness, autosomal recessive 83 9.6 MYO15A MYO7A
10 deafness, autosomal dominant 15 9.6 FAM136A MYO6 POU4F3
11 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 MYO15A MYO6 MYO7A
12 sensorineural hearing loss 9.4 MYO15A MYO6 MYO7A
13 auditory system disease 9.4 MYO15A MYO7A POU4F3
14 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 MYO1A MYO6 MYO7A POU4F3
15 deafness, autosomal dominant 48 9.1 MYO15A MYO1A MYO6 MYO7A
16 deafness, autosomal dominant 22 9.1 MYO15A MYO1A MYO6 MYO7A
17 deafness, autosomal recessive 37 9.1 MYO15A MYO1A MYO6 MYO7A
18 deafness, autosomal dominant 17 9.1 MYO15A MYO1A MYO6 MYO7A
19 deafness, autosomal recessive 30 9.1 MYO15A MYO1A MYO6 MYO7A
20 autosomal recessive nonsyndromic deafness 3 9.1 MYO15A MYO1A MYO6 MYO7A
21 autosomal dominant nonsyndromic deafness 9.0 FAM136A MYO1A MYO6 MYO7A POU4F3
22 nonsyndromic deafness 8.6 MYO15A MYO1A 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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Deafness, Autosomal Dominant 11:

31
# Description HPO Frequency HPO Source Accession
1 vertigo 31 HP:0002321
2 bilateral sensorineural hearing impairment 31 HP:0008619

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 11:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 MYO15A MYO1A MYO6 MYO7A POU4F3
2 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 28 MYO7A

Anatomical Context for Deafness, Autosomal Dominant 11

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

38
Brain

Publications for Deafness, Autosomal Dominant 11

Articles related to Deafness, Autosomal Dominant 11:

# Title Authors Year
1
Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). ( 23383098 )
2013
2
A DNA variant within the MYO7A promoter regulates YY1 transcription factor binding and gene expression serving as a potential dominant DFNA11 auditory genetic modifier. ( 21378158 )
2011
3
In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier. ( 18667942 )
2008
4
[Gene mapping for autosomal dominant nonsyndromic hearing loss DFNA11]. ( 17702415 )
2007
5
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). ( 16449806 )
2006
6
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). ( 15221449 )
2004
7
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). ( 15300860 )
2004
8
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. ( 11889386 )
2002
9
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. ( 8776602 )
1996

Variations for Deafness, Autosomal Dominant 11

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO7A MYO7A, 9-BP DEL, EX22 deletion Pathogenic
2 MYO7A NM_000260.3(MYO7A): c.1373A> T (p.Asn458Ile) single nucleotide variant Pathogenic rs121965084 GRCh37 Chromosome 11, 76873195: 76873195
3 MYO7A NM_000260.3(MYO7A): c.652G> A (p.Asp218Asn) single nucleotide variant Pathogenic/Likely pathogenic rs201539845 GRCh37 Chromosome 11, 76867967: 76867967
4 MYO7A NM_000260.3(MYO7A): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs111033283 GRCh37 Chromosome 11, 76867955: 76867955
5 MYO7A NM_000260.3(MYO7A): c.689C> T (p.Ala230Val) single nucleotide variant Pathogenic/Likely pathogenic rs797044512 GRCh37 Chromosome 11, 76868004: 76868004

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 9.8 FAM136A MYO15A MYO1A MYO6 MYO7A POU4F3
2 cell cortex GO:0005938 9.37 MYO6 MYO7A
3 stereocilium GO:0032420 9.26 MYO15A MYO7A
4 filamentous actin GO:0031941 9.16 MYO1A MYO6
5 microvillus GO:0005902 9.13 MYO1A MYO6 MYO7A
6 myosin complex GO:0016459 8.92 MYO15A MYO1A 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 actin filament-based movement GO:0030048 9.32 MYO6 MYO7A
3 inner ear auditory receptor cell differentiation GO:0042491 9.26 MYO7A POU4F3
4 inner ear receptor cell differentiation GO:0060113 9.16 MYO7A POU4F3
5 inner ear morphogenesis GO:0042472 9.13 MYO15A MYO7A POU4F3
6 sensory perception of sound GO:0007605 9.02 MYO15A MYO1A 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 ATP binding GO:0005524 9.67 MYO15A MYO1A MYO6 MYO7A
2 actin binding GO:0003779 9.46 MYO15A MYO1A MYO6 MYO7A
3 actin filament binding GO:0051015 9.43 MYO1A MYO6 MYO7A
4 ADP binding GO:0043531 9.32 MYO6 MYO7A
5 calmodulin binding GO:0005516 9.26 MYO15A MYO1A MYO6 MYO7A
6 motor activity GO:0003774 8.92 MYO15A MYO1A MYO6 MYO7A

Sources for Deafness, Autosomal Dominant 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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