DFNA11
MCID: DFN251
MIFTS: 44

Deafness, Autosomal Dominant 11 (DFNA11)

Categories: 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 57 29 13 6 70
Dfna11 57 12 72 54
Autosomal Dominant Nonsyndromic Deafness 11 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11 72
Deafness, Autosomal Dominant, Type 11 39
Deafness, Autosomal Dominant, 11 72
Autosomal Dominant Deafness 11 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

Disease Ontology 12 DOID:0110543
OMIM® 57 601317
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1832475
UMLS 70 C1832475

Summaries for Deafness, Autosomal Dominant 11

UniProtKB/Swiss-Prot : 72 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 dfnb1 and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Dominant 11 is MYO7A (Myosin VIIA), and among its related pathways/superpathways is Cytoskeleton remodeling_RalA regulation pathway. 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® : 57 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) (Updated 05-Apr-2021)

Related Diseases for Deafness, Autosomal Dominant 11

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

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 dfnb1 29.9 PCDH15 MYO7A GJB2
2 branchiootic syndrome 1 29.8 WHRN USH1G MYO7A GJB2 CDH23
3 retinitis pigmentosa-deafness syndrome 29.2 WHRN USH1G USH1C PCDH15 MYO7A CDH23
4 nonsyndromic hearing loss 28.5 POU4F3 PCDH15 MYO7A MYO3A MYO15A GJB2
5 retinitis pigmentosa 28.4 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
6 deafness, autosomal recessive 2 28.1 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
7 rare genetic deafness 28.1 WHRN USH1C PCDH15 MYO7A MYO3A MYO15A
8 autosomal dominant non-syndromic sensorineural deafness type dfna 27.8 USH1G POU4F3 PCDH15 MYO7A GSDME GJB2
9 sensorineural hearing loss 27.2 WHRN USH1G USH1C POU4F3 PDZD7 PCDH15
10 usher syndrome, type i 27.2 WHRN USH1G USH1C PDZD7 PCDH15 MYO7B
11 usher syndrome 26.5 WHRN USH1G USH1C POU4F3 PDZD7 PCDH15
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
13 rare deafness 10.3 PCDH15 CDH23
14 usher syndrome, type ik 10.3 PCDH15 CDH23
15 deafness, autosomal dominant 65 10.3 WHRN PCDH15
16 deafness, autosomal recessive 102 10.2 WHRN MYO15A
17 deafness, autosomal recessive 8 10.2 MYO15A GJB2
18 labyrinthitis 10.2 MYO7A GJB2
19 acute hemorrhagic leukoencephalitis 10.2 USH1G CDH23
20 drug-induced hearing loss 10.2 MYO7A GJB2
21 deafness, autosomal recessive 83 10.2 MYO7A MYO15A CDH23
22 y-linked deafness 10.2 PCDH15 GSDME
23 deafness, autosomal dominant 56 10.2 WHRN GJB2
24 deafness, autosomal recessive 86 10.2 WHRN PCDH15 CDH23
25 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.1 PCDH15 CDH23
26 deafness, autosomal recessive 48 10.1 WHRN PDZD7 MYO7A
27 deafness, autosomal recessive 3 10.1 MYO7A MYO15A GJB2
28 deafness, autosomal dominant 48 10.1 MYO7A MYO3A MYO15A
29 deafness, autosomal recessive 100 10.1 MYO7A ADGRV1
30 deafness, autosomal dominant 17 10.1 MYO7A MYO3A MYO15A
31 deafness, autosomal recessive 37 10.1 MYO7A MYO3A MYO15A
32 deafness, autosomal dominant 22 10.1 MYO7A MYO3A MYO15A
33 deafness, autosomal recessive 49 10.1 MYO15A GJB2
34 deafness, autosomal recessive 62 10.1 CDH23 ADGRV1
35 y-linked monogenic disease 10.1 PCDH15 GSDME CDH23
36 deafness, autosomal recessive 63 10.1 MYO7A MYO15A
37 deafness, autosomal recessive 1b 10.1 MYO15A GJB2
38 deafness, autosomal recessive 16 10.1 MYO15A GJB2 CDH23
39 deafness, autosomal recessive 77 10.0 MYO3A GJB2 CDH23
40 deafness, autosomal dominant 21 10.0 GSDME COL11A2
41 deafness, autosomal dominant 3a 10.0 GSDME GJB2
42 neuroretinitis 10.0
43 retinitis 10.0
44 nonsyndromic deafness 10.0 PCDH15 GJB2 COL11A2
45 deafness, autosomal recessive 31 10.0 WHRN PDZD7 ADGRV1
46 deafness, autosomal recessive 57 10.0 WHRN PDZD7 ADGRV1
47 deafness, autosomal recessive 91 10.0 GSDME GJB2 CDH23
48 autosomal recessive nonsyndromic deafness 36 10.0 WHRN USH1C PCDH15 MYO3A
49 deafness, autosomal dominant 13 10.0 GSDME COL11A2
50 deafness, autosomal dominant 25 10.0 POU4F3 MYO7A

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.1 ADGRV1 CDH23 COL11A2 GJB2 GSDME MYO15A
2 behavior/neurological MP:0005386 10.06 ADGRV1 CDH23 COL11A2 MYO15A MYO3A MYO7A
3 homeostasis/metabolism MP:0005376 9.9 ADGRV1 CDH23 COL11A2 GJB2 GSDME MYO3A
4 nervous system MP:0003631 9.77 ADGRV1 CDH23 GJB2 GSDME MYO15A MYO3A
5 vision/eye MP:0005391 9.36 ADGRV1 CDH23 GJB2 MYO15A MYO7A PCDH15

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 29 MYO7A

Anatomical Context for Deafness, Autosomal Dominant 11

Publications for Deafness, Autosomal Dominant 11

Articles related to Deafness, Autosomal Dominant 11:

(show all 37)
# Title Authors PMID Year
1
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. 61 57 6
21150918 2011
2
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 57 6 61
15221449 2004
3
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 57 6
9354784 1997
4
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. 54 61 57
11889386 2002
5
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 54 61 57
8776602 1996
6
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 6
25798947 2015
7
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 6
25404053 2014
8
Functional analysis of splicing mutations in MYO7A and USH2A genes. 6
20497194 2011
9
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 6
16679490 2006
10
Nonsyndromic hearing impairment: unparalleled heterogeneity. 57
9106521 1997
11
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). 61 54
16449806 2006
12
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). 61 54
15300860 2004
13
Searching for evidence of DFNB2. 54 61
11992483 2002
14
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness. 61 54
10958658 2000
15
Genomics and hearing impairment. 54 61
9927480 1999
16
Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis. 61
32097363 2020
17
The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss. 61
32428919 2020
18
Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11. 61
29400105 2018
19
The first sporadic case of DFNA11 identified by next-generation sequencing. 61
28802369 2017
20
Genetics of vestibular disorders: pathophysiological insights. 61
27083884 2016
21
Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family. 61
26968074 2016
22
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 61
24194196 2014
23
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). 61
23383098 2013
24
A DNA variant within the MYO7A promoter regulates YY1 transcription factor binding and gene expression serving as a potential dominant DFNA11 auditory genetic modifier. 61
21378158 2011
25
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. 61
20132242 2010
26
A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells. 61
20016096 2009
27
Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3. 61
19372648 2009
28
In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier. 61
18667942 2008
29
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
30
[Gene mapping for autosomal dominant nonsyndromic hearing loss DFNA11]. 61
17702415 2007
31
Cochleovestibular and ocular features in a Dutch DFNA11 family. 61
16639269 2006
32
Hereditary deafness and phenotyping in humans. 61
12324385 2002
33
Clinical presentation of DFNA11 (MYO7A). 61
12408067 2002
34
Sensorineural hearing impairment non-syndromic, dominant DFNA11. 61
10868221 2000
35
Unconventional myosins and the genetics of hearing loss. 61
10704189 1999
36
Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11. 61
9325061 1997
37
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. 61
9150164 1997

Variations for Deafness, Autosomal Dominant 11

ClinVar genetic disease variations for Deafness, Autosomal Dominant 11:

6 (show top 50) (show all 308)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO7A MYO7A, 9-BP DEL, EX22 Deletion Pathogenic 11857 GRCh37:
GRCh38:
2 MYO7A NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) SNV Pathogenic 11863 rs121965084 GRCh37: 11:76873195-76873195
GRCh38: 11:77162149-77162149
3 MYO7A NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) SNV Pathogenic 29924 rs201539845 GRCh37: 11:76867967-76867967
GRCh38: 11:77156921-77156921
4 MYO7A NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) SNV Pathogenic 29925 rs387906699 GRCh37: 11:76885877-76885877
GRCh38: 11:77174831-77174831
5 MYO7A NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) SNV Pathogenic 178993 rs797044512 GRCh37: 11:76868004-76868004
GRCh38: 11:77156958-77156958
6 MYO7A NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) SNV Pathogenic 551533 rs755934966 GRCh37: 11:76919825-76919825
GRCh38: 11:77208780-77208780
7 MYO7A NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) SNV Pathogenic 43164 rs111033180 GRCh37: 11:76883896-76883896
GRCh38: 11:77172850-77172850
8 MYO7A NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) SNV Pathogenic 551138 rs766641715 GRCh37: 11:76903288-76903288
GRCh38: 11:77192243-77192243
9 MYO7A NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) SNV Pathogenic 43327 rs111033283 GRCh37: 11:76867955-76867955
GRCh38: 11:77156909-77156909
10 MYO7A NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) SNV Pathogenic 372560 rs1057517857 GRCh37: 11:76901158-76901158
GRCh38: 11:77190113-77190113
11 MYO7A NM_000260.4(MYO7A):c.224dup (p.Asp75fs) Duplication Pathogenic 553215 rs1224819887 GRCh37: 11:76858934-76858935
GRCh38: 11:77147888-77147889
12 MYO7A NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) SNV Pathogenic 43169 rs111033201 GRCh37: 11:76885871-76885871
GRCh38: 11:77174825-77174825
13 MYO7A NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) SNV Pathogenic 504505 rs1555051455 GRCh37: 11:76853788-76853788
GRCh38: 11:77142742-77142742
14 MYO7A NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) SNV Pathogenic 242392 rs878853236 GRCh37: 11:76885835-76885835
GRCh38: 11:77174789-77174789
15 MYO7A NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) SNV Pathogenic 43218 rs111033178 GRCh37: 11:76901153-76901153
GRCh38: 11:77190108-77190108
16 MYO7A NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) SNV Pathogenic 561263 rs750647872 GRCh37: 11:76903177-76903177
GRCh38: 11:77192132-77192132
17 MYO7A NM_000260.4(MYO7A):c.2283-1G>T SNV Pathogenic 43178 rs397516295 GRCh37: 11:76890090-76890090
GRCh38: 11:77179044-77179044
18 MYO7A NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) SNV Pathogenic 561263 rs750647872 GRCh37: 11:76903177-76903177
GRCh38: 11:77192132-77192132
19 MYO7A NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) SNV Pathogenic 43236 rs397516308 GRCh37: 11:76905539-76905539
GRCh38: 11:77194494-77194494
20 MYO7A NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) Deletion Pathogenic 438178 rs1199012623 GRCh37: 11:76910849-76910849
GRCh38: 11:77199804-77199804
21 MYO7A NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) SNV Pathogenic 855092 GRCh37: 11:76893006-76893006
GRCh38: 11:77181960-77181960
22 MYO7A NM_000260.4(MYO7A):c.3504-1G>C SNV Pathogenic 554480 rs1555090171 GRCh37: 11:76900388-76900388
GRCh38: 11:77189343-77189343
23 MYO7A NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) SNV Likely pathogenic 43151 rs111033206 GRCh37: 11:76873900-76873900
GRCh38: 11:77162854-77162854
24 MYO7A NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) SNV Likely pathogenic 522937 rs782808261 GRCh37: 11:76867106-76867106
GRCh38: 11:77156060-77156060
25 MYO7A NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) SNV Likely pathogenic 43208 rs111033214 GRCh37: 11:76900393-76900393
GRCh38: 11:77189348-77189348
26 MYO7A NM_000260.4(MYO7A):c.2764AAG[1] (p.Lys923del) Microsatellite Likely pathogenic 930183 GRCh37: 11:76892494-76892496
GRCh38: 11:77181448-77181450
27 MYO7A NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) SNV Likely pathogenic 931720 GRCh37: 11:76924051-76924051
GRCh38: 11:77213006-77213006
28 MYO7A NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) SNV Likely pathogenic 43288 rs368657015 GRCh37: 11:76916599-76916599
GRCh38: 11:77205554-77205554
29 MYO7A NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) SNV Likely pathogenic 43186 rs111033437 GRCh37: 11:76890971-76890971
GRCh38: 11:77179925-77179925
30 MYO7A NC_000011.10:g.77147798del Deletion Likely pathogenic 800972 rs1591224147 GRCh37: 11:76858843-76858843
GRCh38: 11:77147797-77147797
31 MYO7A NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) SNV Conflicting interpretations of pathogenicity 43134 rs45629132 GRCh37: 11:76870496-76870496
GRCh38: 11:77159450-77159450
32 MYO7A NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) SNV Conflicting interpretations of pathogenicity 43135 rs199818783 GRCh37: 11:76871260-76871260
GRCh38: 11:77160214-77160214
33 MYO7A NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=) SNV Uncertain significance 882146 GRCh37: 11:76915191-76915191
GRCh38: 11:77204146-77204146
34 MYO7A NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) SNV Uncertain significance 178490 rs368749248 GRCh37: 11:76915212-76915212
GRCh38: 11:77204167-77204167
35 MYO7A NM_000260.4(MYO7A):c.5480+10G>A SNV Uncertain significance 497478 rs768513428 GRCh37: 11:76915284-76915284
GRCh38: 11:77204239-77204239
36 MYO7A NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=) SNV Uncertain significance 883826 GRCh37: 11:76909574-76909574
GRCh38: 11:77198529-77198529
37 MYO7A NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) SNV Uncertain significance 504506 rs758921557 GRCh37: 11:76910739-76910739
GRCh38: 11:77199694-77199694
38 MYO7A NM_000260.4(MYO7A):c.-52C>G SNV Uncertain significance 884039 GRCh37: 11:76839530-76839530
GRCh38: 11:77128484-77128484
39 MYO7A NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp) SNV Uncertain significance 862438 GRCh37: 11:76914181-76914181
GRCh38: 11:77203136-77203136
40 MYO7A NM_000260.4(MYO7A):c.5589C>T (p.His1863=) SNV Uncertain significance 884104 GRCh37: 11:76916615-76916615
GRCh38: 11:77205570-77205570
41 MYO7A NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser) SNV Uncertain significance 884158 GRCh37: 11:76867061-76867061
GRCh38: 11:77156015-77156015
42 MYO7A NM_000260.4(MYO7A):c.397C>A (p.His133Asn) SNV Uncertain significance 164656 rs111033403 GRCh37: 11:76867064-76867064
GRCh38: 11:77156018-77156018
43 MYO7A NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) SNV Uncertain significance 796496 rs1381141633 GRCh37: 11:76922235-76922235
GRCh38: 11:77211190-77211190
44 MYO7A NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=) SNV Uncertain significance 883340 GRCh37: 11:76922256-76922256
GRCh38: 11:77211211-77211211
45 MYO7A NM_000260.4(MYO7A):c.1343+8G>T SNV Uncertain significance 517205 rs2276278 GRCh37: 11:76872169-76872169
GRCh38: 11:77161123-77161123
46 MYO7A NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) SNV Uncertain significance 761280 rs370866578 GRCh37: 11:76925018-76925018
GRCh38: 11:77213973-77213973
47 MYO7A NM_000260.4(MYO7A):c.1690+4C>T SNV Uncertain significance 883430 GRCh37: 11:76874038-76874038
GRCh38: 11:77162992-77162992
48 MYO7A NM_000260.4(MYO7A):c.*201T>C SNV Uncertain significance 882655 GRCh37: 11:76925942-76925942
GRCh38: 11:77214897-77214897
49 MYO7A NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln) SNV Uncertain significance 883481 GRCh37: 11:76885836-76885836
GRCh38: 11:77174790-77174790
50 MYO7A NM_000260.4(MYO7A):c.3375+12C>T SNV Uncertain significance 883669 GRCh37: 11:76894214-76894214
GRCh38: 11:77183169-77183169

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

72
# 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

Expression for Deafness, Autosomal Dominant 11

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

Pathways for Deafness, Autosomal Dominant 11

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

# Super pathways Score Top Affiliating Genes
1 10.34 MYO7A MYO3A MYO15A

GO Terms for Deafness, Autosomal Dominant 11

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.32 WHRN USH1G USH1C POU4F3 MYO7B MYO7A
2 cytoskeleton GO:0005856 10.03 USH1G USH1C MYO7B MYO7A MYO3A MYO15A
3 cell projection GO:0042995 10 WHRN USH1C PDZD7 MYO7B MYO3A MYO15A
4 synapse GO:0045202 9.95 WHRN USH1C PCDH15 MYO7A ADGRV1
5 actin cytoskeleton GO:0015629 9.83 USH1G MYO7B MYO7A MYO15A
6 vesicle GO:0031982 9.74 MYO7B MYO7A MYO15A
7 myosin complex GO:0016459 9.73 MYO7B MYO7A MYO3A MYO15A
8 photoreceptor outer segment GO:0001750 9.69 USH1C PCDH15 MYO7A
9 microvillus GO:0005902 9.67 USH1C MYO7B MYO7A
10 photoreceptor connecting cilium GO:0032391 9.65 WHRN USH1G USH1C PDZD7 MYO7A
11 stereocilium tip GO:0032426 9.62 WHRN USH1C PDZD7 MYO3A
12 USH2 complex GO:1990696 9.58 WHRN PDZD7 ADGRV1
13 stereocilium bundle GO:0032421 9.54 WHRN MYO15A
14 stereocilia ankle link GO:0002141 9.54 WHRN PDZD7 ADGRV1
15 periciliary membrane compartment GO:1990075 9.48 WHRN ADGRV1
16 stereocilia ankle link complex GO:0002142 9.46 WHRN USH1C PDZD7 ADGRV1
17 photoreceptor inner segment GO:0001917 9.43 WHRN USH1G USH1C PDZD7 MYO7A ADGRV1
18 stereocilium GO:0032420 9.28 WHRN USH1C PDZD7 PCDH15 MYO7A MYO3A

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.91 POU4F3 MYO7A MYO3A CDH23 ADGRV1
2 inner ear morphogenesis GO:0042472 9.83 USH1G USH1C POU4F3 MYO7A MYO15A
3 inner ear development GO:0048839 9.8 POU4F3 PCDH15 MYO7A GJB2 ADGRV1
4 photoreceptor cell maintenance GO:0045494 9.77 USH1G USH1C PCDH15 CDH23 ADGRV1
5 actin filament organization GO:0007015 9.74 MYO7B MYO7A MYO15A
6 establishment of protein localization GO:0045184 9.72 WHRN PDZD7 ADGRV1
7 vesicle transport along actin filament GO:0030050 9.7 MYO7B MYO7A MYO15A
8 auditory receptor cell stereocilium organization GO:0060088 9.67 WHRN PDZD7 MYO7A
9 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.65 WHRN PDZD7 ADGRV1
10 equilibrioception GO:0050957 9.65 USH1G USH1C PCDH15 MYO7A CDH23
11 inner ear auditory receptor cell differentiation GO:0042491 9.63 USH1C POU4F3 MYO7A
12 inner ear receptor cell stereocilium organization GO:0060122 9.63 WHRN USH1G USH1C MYO7A CDH23 ADGRV1
13 inner ear receptor cell differentiation GO:0060113 9.62 USH1G POU4F3 MYO7A GSDME
14 sensory organ development GO:0007423 9.56 MYO7B MYO7A
15 brush border assembly GO:1904970 9.54 USH1C MYO7B
16 sensory perception of light stimulus GO:0050953 9.5 WHRN USH1G USH1C PCDH15 MYO7A CDH23
17 sensory perception of sound GO:0007605 9.5 WHRN USH1G USH1C POU4F3 PDZD7 PCDH15

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 9.67 MYO7B MYO7A MYO3A MYO15A
2 actin filament binding GO:0051015 9.62 USH1C MYO7B MYO7A MYO15A
3 calmodulin binding GO:0005516 9.58 MYO7A MYO3A MYO15A
4 motor activity GO:0003774 9.46 MYO7B MYO7A MYO3A MYO15A
5 spectrin binding GO:0030507 9.43 USH1G USH1C MYO7A
6 microfilament motor activity GO:0000146 9.26 MYO7B MYO7A MYO3A MYO15A
7 actin-dependent ATPase activity GO:0030898 8.92 MYO7B MYO7A MYO3A MYO15A

Sources for Deafness, Autosomal Dominant 11

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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