MCID: DFN251
MIFTS: 39

Deafness, Autosomal Dominant 11

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

Aliases & Classifications for Deafness, Autosomal Dominant 11

MalaCards integrated aliases for Deafness, Autosomal Dominant 11:

Name: Deafness, Autosomal Dominant 11 54 29 13 69
Dfna11 12 71 52
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:

54
Miscellaneous:
gradual progression of hearing loss
allelic disorder to autosomal recessive hearing loss (dfnb2, ) and usher syndrome type ib
variable age at onset, ranging from childhood to adult

Inheritance:
autosomal dominant


HPO:

32
deafness, autosomal dominant 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 601317
Disease Ontology 12 DOID:0110543
ICD10 33 H90.3
MedGen 40 C1832475
MeSH 42 D006319

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 dfna11 nonsyndromic hearing loss and deafness and tooth agenesis, selective, 3, 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 Integrin Pathway and PAK Pathway. Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and vision/eye

OMIM : 54
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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

(show all 20)
id Related Disease Score Top Affiliating Genes
1 dfna11 nonsyndromic hearing loss and deafness 11.9
2 tooth agenesis, selective, 3 10.0 FAM136A POU4F3
3 bifid nose with or without anorectal and renal anomalies 9.6 MYO15A MYO7A
4 congenital muscular dystrophy due to lmna mutation 9.6 MYO7A POU4F3
5 x-linked nonsyndromic deafness 9.5 MYO6 MYO7A POU4F3
6 ectodermal dysplasia 6, hair/nail type 9.5 MYO15A MYO7A
7 mental retardation, autosomal dominant 31 9.5 FAM136A MYO6 POU4F3
8 nonsyndromic hydrocephalus, ccdc88c-related 9.5 MYO15A MYO6
9 narcissistic personality disorder 9.3 MYO15A MYO7A POU4F3
10 discrete papular lichen myxedematosus 9.2 MYO15A MYO6 MYO7A
11 endometritis 9.1 MYO15A MYO6 MYO7A
12 nodular lichen myxedematosus 9.0 MYO1A MYO6 MYO7A POU4F3
13 fundus albipunctatus 8.8 MYO15A MYO1A MYO6 MYO7A
14 deafness, autosomal recessive 37 8.8 MYO15A MYO1A MYO6 MYO7A
15 ullrich congenital muscular dystrophy 2 8.8 MYO15A MYO1A MYO6 MYO7A
16 macrothrombocytopenia and progressive sensorineural deafness 8.8 MYO15A MYO1A MYO6 MYO7A
17 severe combined immunodeficiency, athabascan type 8.8 MYO15A MYO1A MYO6 MYO7A
18 autosomal recessive nonsyndromic deafness 8 8.7 MYO15A MYO1A MYO6 MYO7A
19 autosomal recessive nonsyndromic deafness 8.7 MYO15A MYO6 MYO7A POU4F3
20 preterm premature rupture of the membranes 7.8 FAM136A 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:

54

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

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


Clinical features from OMIM:

601317

Human phenotypes related to Deafness, Autosomal Dominant 11:

32
id Description HPO Frequency HPO Source Accession
1 vertigo 32 HP:0002321
2 bilateral sensorineural hearing impairment 32 HP:0008619

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 11:

44
id 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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Dominant 11

Genetic Tests for Deafness, Autosomal Dominant 11

Genetic tests related to Deafness, Autosomal Dominant 11:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 11 29

Anatomical Context for Deafness, Autosomal Dominant 11

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

39
Brain

Publications for Deafness, Autosomal Dominant 11

Variations for Deafness, Autosomal Dominant 11

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

71
id Symbol AA change Variation ID SNP ID
1 MYO7A p.Asn458Ile VAR_027306 rs28934903
2 MYO7A p.Gly722Arg VAR_027307
3 MYO7A p.Arg853Cys VAR_027308

ClinVar genetic disease variations for Deafness, Autosomal Dominant 11:

6
id 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.689C> T (p.Ala230Val) single nucleotide variant 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:

id Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 9.32 MYO6 MYO7A
2 stereocilium GO:0032420 9.26 MYO15A MYO7A
3 filamentous actin GO:0031941 9.16 MYO1A MYO6
4 microvillus GO:0005902 9.13 MYO1A MYO6 MYO7A
5 myosin complex GO:0016459 8.92 MYO15A MYO1A MYO6 MYO7A

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

id 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 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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