DFNB2
MCID: DFN250
MIFTS: 45

Deafness, Autosomal Recessive 2 (DFNB2)

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

Aliases & Classifications for Deafness, Autosomal Recessive 2

MalaCards integrated aliases for Deafness, Autosomal Recessive 2:

Name: Deafness, Autosomal Recessive 2 57 29 13 6 70
Dfnb2 57 12 72 54
Neurosensory Nonsyndromic Recessive Deafness 2 57 72
Autosomal Recessive Nonsyndromic Deafness 2 12 15
Nsrd2 57 72
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 72
Neurosensory Nonsyndromic Recessive Deafness 2; Nsrd2 57
Deafness Neurosensory Autosomal Recessive 2 72
Deafness, Autosomal Recessive, Type 2 39
Deafness, Autosomal Recessive, 2 72
Autosomal Recessive Deafness 2 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset usually at birth, but may occur later
allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, ) and usher syndrome type ib


HPO:

31
deafness, autosomal recessive 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110477
OMIM® 57 600060
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1838701
UMLS 70 C1838701

Summaries for Deafness, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 2: 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.

MalaCards based summary : Deafness, Autosomal Recessive 2, also known as dfnb2, is related to dfnb1 and retinitis pigmentosa-deafness syndrome, and has symptoms including vertigo An important gene associated with Deafness, Autosomal Recessive 2 is MYO7A (Myosin VIIA). Affiliated tissues include retina and eye, and related phenotypes are sensorineural hearing impairment and vertigo

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the MYO7A gene on chromosome 11q13.

More information from OMIM: 600060 PS220290

Related Diseases for Deafness, Autosomal Recessive 2

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
Deafness, Autosomal Dominant 80 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 Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 dfnb1 30.1 PCDH15 OTOF MYO7A GJB2
2 retinitis pigmentosa-deafness syndrome 29.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
3 deafness, autosomal recessive 31 29.2 WHRN PDZD7 ADGRV1
4 nonsyndromic deafness 29.1 TMC1 TECTA SLC26A4 PCDH15 MYO7A MYO15A
5 deafness, autosomal recessive 1a 28.9 TMC1 SLC26A4 PJVK OTOF MYO7A GJB2
6 branchiootic syndrome 1 28.6 WHRN USH1G TMC1 TECTA SLC26A4 PJVK
7 retinal disease 28.4 USH1G USH1C PDZD7 PCDH15 MYO7A CDH23
8 deafness, autosomal recessive 23 28.1 WHRN USH1G USH1C TMC1 PCDH15 MYO7A
9 nonsyndromic hearing loss 28.0 TMC1 TECTA SLC26A4 PJVK PCDH15 OTOF
10 usher syndrome, type if 28.0 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
11 deafness, autosomal dominant 11 27.8 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
12 rare genetic deafness 27.0 WHRN USH1C TMC1 TECTA SLC26A4 PJVK
13 autosomal recessive non-syndromic sensorineural deafness type dfnb 26.9 WHRN USH1G USH1C TMC1 TECTA SLC26A4
14 retinitis pigmentosa 26.9 WHRN USH1G USH1C TMC1 SLC26A4 PDZD7
15 deafness, autosomal recessive 12 26.8 WHRN USH1G USH1C TMC1 TECTA SLC26A4
16 usher syndrome 26.3 WHRN USH1G USH1C TMC1 TECTA SLC26A4
17 usher syndrome, type i 26.2 WHRN USH1G USH1C TMC1 TECTA SLC26A4
18 sensorineural hearing loss 26.1 WHRN USH1G USH1C TMC1 TECTA SLC26A4
19 autosomal recessive nonsyndromic deafness 25.9 WHRN USH1G USH1C TMC1 TECTA SLC26A4
20 usher syndrome, type ik 10.3 PCDH15 CDH23
21 deafness, autosomal recessive 102 10.3 WHRN MYO15A
22 deafness, autosomal recessive 91 10.3 GJB2 CDH23
23 deafness, autosomal recessive 3 10.3 MYO7A MYO15A GJB2
24 deafness, autosomal recessive 26 10.2 TECTA GJB2
25 deafness, autosomal recessive 6 10.2 PJVK CDH23
26 deafness, autosomal recessive 1b 10.2 MYO15A GJB2
27 deafness, autosomal dominant 65 10.2 WHRN PCDH15
28 acute hemorrhagic leukoencephalitis 10.2 USH1G CDH23
29 deafness, autosomal dominant 67 10.2 OTOF GJB2
30 rare deafness 10.2 PCDH15 MYO7A CDH23
31 deafness, autosomal recessive 29 10.2 TECTA GJB2
32 deafness, autosomal recessive 53 10.2 TECTA PJVK
33 deafness, autosomal recessive 25 10.2 PJVK MYO15A
34 deafness, autosomal dominant 15 10.1 TMC1 MYO7A
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
36 serous labyrinthitis 10.1 SLC26A4 GJB2
37 deafness, autosomal dominant 25 10.1 OTOF MYO7A
38 deafness, autosomal recessive 27 10.1 TMC1 PJVK
39 deafness, autosomal recessive 86 10.1 WHRN PCDH15 CDH23
40 deafness, autosomal recessive 67 10.1 PJVK PCDH15
41 deafness, autosomal recessive 35 10.1 PJVK CDH23
42 deafness, autosomal recessive 28 10.1 TECTA OTOF MYO15A
43 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.1 PCDH15 CDH23
44 deafness, autosomal recessive 85 10.1 PJVK OTOF
45 deafness, autosomal recessive 59 10.1 PJVK OTOF
46 deafness, autosomal recessive 22 10.1 TECTA PJVK MYO15A
47 deafness, autosomal recessive 49 10.1 PJVK MYO15A GJB2
48 deafness, autosomal recessive 24 10.1 TECTA PJVK MYO15A
49 deafness, autosomal recessive 15 10.1 PJVK MYO15A
50 deafness, autosomal dominant 48 10.1 MYO7A MYO3A MYO15A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 2:



Diseases related to Deafness, Autosomal Recessive 2

Symptoms & Phenotypes for Deafness, Autosomal Recessive 2

Human phenotypes related to Deafness, Autosomal Recessive 2:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 vertigo 31 HP:0002321

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
vertigo
vestibular dysfunction

Head And Neck Ears:
hearing loss, sensorineural, prelingual
hearing loss affects all frequencies

Clinical features from OMIM®:

600060 (Updated 20-May-2021)

UMLS symptoms related to Deafness, Autosomal Recessive 2:


vertigo

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ADGRV1 CDH23 MYO15A MYO3A MYO7A OTOF
2 hearing/vestibular/ear MP:0005377 10.06 ADGRV1 CDH23 GJB2 MYO15A MYO3A MYO7A
3 nervous system MP:0003631 9.86 ADGRV1 CDH23 GJB2 MYO15A MYO3A MYO7A
4 vision/eye MP:0005391 9.32 ADGRV1 CDH23 GJB2 MYO15A MYO7A PCDH15

Drugs & Therapeutics for Deafness, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 2

Genetic Tests for Deafness, Autosomal Recessive 2

Genetic tests related to Deafness, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 2 29 MYO7A

Anatomical Context for Deafness, Autosomal Recessive 2

MalaCards organs/tissues related to Deafness, Autosomal Recessive 2:

40
Retina, Eye

Publications for Deafness, Autosomal Recessive 2

Articles related to Deafness, Autosomal Recessive 2:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 61 6 57 54
18181211 2008
2
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. 61 57 6
20132242 2010
3
From DFNB2 to Usher syndrome: variable expressivity of the same disease. 61 6 57
11391666 2001
4
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 6 61 57
9171833 1997
5
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. 61 57 6
9171832 1997
6
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. 6 57
7951250 1994
7
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. 61 6
28472130 2017
8
Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran. 61 6
28451532 2017
9
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 6 61
24194196 2014
10
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 61 6
19375528 2009
11
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. 6
29196752 2017
12
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 6
28281779 2017
13
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service. 6
27160483 2017
14
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 6
27460420 2016
15
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. 6
27610647 2016
16
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. 6
27729122 2016
17
Usher syndrome in Denmark: mutation spectrum and some clinical observations. 6
27957503 2016
18
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 6
27068579 2016
19
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 6
27344577 2016
20
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. 6
26791358 2016
21
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 6
26226137 2016
22
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 6
26969326 2016
23
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 6
27583663 2016
24
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 6
26445815 2015
25
Electroretinogram assessment of children with sensorineural hearing loss: implications for screening. 6
26486028 2015
26
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 6
26338283 2015
27
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 6
25788563 2015
28
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 6
25575603 2015
29
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. 6
26561413 2015
30
Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. 6
26309859 2015
31
Targeted exon sequencing in Usher syndrome type I. 6
25468891 2014
32
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 6
25404053 2014
33
FERM domain-containing unconventional myosin VIIA interacts with integrin β5 subunit and regulates αvβ5-mediated cell adhesion and migration. 6
24997346 2014
34
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. 6
24105371 2014
35
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. 6
25558175 2014
36
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 6
24831256 2014
37
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 6
24618850 2014
38
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 6
23591405 2014
39
Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family. 6
25080338 2014
40
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. 6
24164807 2013
41
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. 6
23770805 2013
42
Advancing genetic testing for deafness with genomic technology. 6
23804846 2013
43
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. 6
23208854 2013
44
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. 6
23451239 2013
45
Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 6
23559863 2013
46
Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment. 6
23148716 2012
47
Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B. 6
22898263 2012
48
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 6
22135276 2012
49
Retinal disease course in Usher syndrome 1B due to MYO7A mutations. 6
21873662 2011
50
Four-year follow-up of diagnostic service in USH1 patients. 6
21436283 2011

Variations for Deafness, Autosomal Recessive 2

ClinVar genetic disease variations for Deafness, Autosomal Recessive 2:

6 (show top 50) (show all 573)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO7A MYO7A, 1-BP INS, EX28 Insertion Pathogenic 11855 GRCh37:
GRCh38:
2 MYO7A NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro) SNV Pathogenic 11853 rs121965081 GRCh37: 11:76868046-76868046
GRCh38: 11:77157000-77157000
3 MYO7A NM_000260.4(MYO7A):c.5143_5145GAG[1] (p.Glu1716del) Microsatellite Pathogenic 11864 rs1555102843 GRCh37: 11:76913443-76913445
GRCh38: 11:77202398-77202400
4 MYO7A NM_000260.4(MYO7A):c.183del (p.Thr62fs) Deletion Pathogenic 802701 rs1446588093 GRCh37: 11:76858891-76858891
GRCh38: 11:77147845-77147845
5 MYO7A NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs) Duplication Pathogenic 802704 rs1591287317 GRCh37: 11:76871324-76871325
GRCh38: 11:77160278-77160279
6 MYO7A NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) SNV Pathogenic 802705 rs1591310948 GRCh37: 11:76877119-76877119
GRCh38: 11:77166073-77166073
7 MYO7A NM_000260.4(MYO7A):c.2750del (p.Glu917fs) Deletion Pathogenic 802707 rs1591378140 GRCh37: 11:76892481-76892481
GRCh38: 11:77181435-77181435
8 MYO7A NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) SNV Pathogenic 802708 rs751769391 GRCh37: 11:76909587-76909587
GRCh38: 11:77198542-77198542
9 MYO7A NM_000260.4(MYO7A):c.6439-1G>A SNV Pathogenic 802710 rs1591514873 GRCh37: 11:76924904-76924904
GRCh38: 11:77213859-77213859
10 MYO7A NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) SNV Pathogenic 11856 rs121965082 GRCh37: 11:76877208-76877208
GRCh38: 11:77166162-77166162
11 MYO7A NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) SNV Pathogenic 43282 rs397516317 GRCh37: 11:76915186-76915186
GRCh38: 11:77204141-77204141
12 MYO7A NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) SNV Pathogenic 43345 rs111033285 GRCh37: 11:76869472-76869472
GRCh38: 11:77158426-77158426
13 MYO7A NM_000260.4(MYO7A):c.133-2A>G SNV Pathogenic 555778 rs782064437 GRCh37: 11:76858842-76858842
GRCh38: 11:77147796-77147796
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.640G>A (p.Gly214Arg) SNV Pathogenic 43327 rs111033283 GRCh37: 11:76867955-76867955
GRCh38: 11:77156909-77156909
16 MYO7A NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) SNV Pathogenic 550026 rs1279918132 GRCh37: 11:76890874-76890874
GRCh38: 11:77179828-77179828
17 MYO7A NM_000260.4(MYO7A):c.1344-2A>G SNV Pathogenic 43143 rs111033415 GRCh37: 11:76873164-76873164
GRCh38: 11:77162118-77162118
18 MYO7A NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) SNV Pathogenic 11859 rs35689081 GRCh37: 11:76853829-76853829
GRCh38: 11:77142783-77142783
19 MYO7A NM_000260.4(MYO7A):c.6439-2A>G SNV Pathogenic 43329 rs397516330 GRCh37: 11:76924903-76924903
GRCh38: 11:77213858-77213858
20 MYO7A NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) SNV Pathogenic 43208 rs111033214 GRCh37: 11:76900393-76900393
GRCh38: 11:77189348-77189348
21 MYO7A NM_000260.4(MYO7A):c.285+2T>C SNV Pathogenic 489095 rs782292032 GRCh37: 11:76858998-76858998
GRCh38: 11:77147952-77147952
22 MYO7A NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter) SNV Pathogenic 627465 rs1565455391 GRCh37: 11:76908641-76908641
GRCh38: 11:77197596-77197596
23 MYO7A NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) SNV Pathogenic 228377 rs782255281 GRCh37: 11:76886438-76886438
GRCh38: 11:77175392-77175392
24 MYO7A NM_000260.4(MYO7A):c.565_566del (p.Val189fs) Deletion Pathogenic 397509 rs1060499651 GRCh37: 11:76867800-76867801
GRCh38: 11:77156754-77156755
25 MYO7A NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser) SNV Pathogenic 236051 rs878853235 GRCh37: 11:76867935-76867935
GRCh38: 11:77156889-77156889
26 MYO7A NM_000260.4(MYO7A):c.1184G>A (p.Arg395His) SNV Pathogenic 29926 rs387906700 GRCh37: 11:76871312-76871312
GRCh38: 11:77160266-77160266
27 MYO7A NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) SNV Pathogenic 551138 rs766641715 GRCh37: 11:76903288-76903288
GRCh38: 11:77192243-77192243
28 MYO7A NM_000260.4(MYO7A):c.2283-1G>T SNV Pathogenic 43178 rs397516295 GRCh37: 11:76890090-76890090
GRCh38: 11:77179044-77179044
29 MYO7A NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) SNV Pathogenic 551885 rs773945008 GRCh37: 11:76922949-76922949
GRCh38: 11:77211904-77211904
30 MYO7A NM_000260.4(MYO7A):c.2187+1G>A SNV Pathogenic 43175 rs111033290 GRCh37: 11:76886511-76886511
GRCh38: 11:77175465-77175465
31 MYO7A NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) SNV Pathogenic 43327 rs111033283 GRCh37: 11:76867955-76867955
GRCh38: 11:77156909-77156909
32 MYO7A NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) SNV Pathogenic 504505 rs1555051455 GRCh37: 11:76853788-76853788
GRCh38: 11:77142742-77142742
33 MYO7A NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) Deletion Pathogenic 553558 rs1397834886 GRCh37: 11:76919502-76919505
GRCh38: 11:77208457-77208460
34 MYO7A NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) SNV Pathogenic 11860 rs121965085 GRCh37: 11:76885862-76885862
GRCh38: 11:77174816-77174816
35 MYO7A NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) SNV Pathogenic 11848 rs41298133 GRCh37: 11:76868015-76868015
GRCh38: 11:77156969-77156969
36 MYO7A NM_000260.4(MYO7A):c.3504-1G>C SNV Pathogenic 554480 rs1555090171 GRCh37: 11:76900388-76900388
GRCh38: 11:77189343-77189343
37 MYO7A NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) SNV Pathogenic 555608 rs782694195 GRCh37: 11:76900479-76900479
GRCh38: 11:77189434-77189434
38 MYO7A NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) Deletion Pathogenic 438178 rs1199012623 GRCh37: 11:76910849-76910849
GRCh38: 11:77199804-77199804
39 MYO7A NM_000260.4(MYO7A):c.133-2A>G SNV Pathogenic 555778 rs782064437 GRCh37: 11:76858842-76858842
GRCh38: 11:77147796-77147796
40 MYO7A NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) Deletion Pathogenic 556038 rs1555096223 GRCh37: 11:76905541-76905541
GRCh38: 11:77194496-77194496
41 MYO7A NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) Deletion Pathogenic 556569 rs1299898646 GRCh37: 11:76916656-76916656
GRCh38: 11:77205611-77205611
42 MYO7A NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) SNV Pathogenic 557045 rs878864531 GRCh37: 11:76916607-76916607
GRCh38: 11:77205562-77205562
43 MYO7A NM_000260.4(MYO7A):c.19-2A>G SNV Pathogenic 558668 rs1555051384 GRCh37: 11:76853753-76853753
GRCh38: 11:77142707-77142707
44 MYO7A NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) SNV Pathogenic 562084 rs781989117 GRCh37: 11:76853756-76853756
GRCh38: 11:77142710-77142710
45 MYO7A NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) SNV Pathogenic 562092 rs750358148 GRCh37: 11:76901162-76901162
GRCh38: 11:77190117-77190117
46 MYO7A NM_000260.4(MYO7A):c.2339del (p.Gly780fs) Deletion Pathogenic 562093 rs1565402473 GRCh37: 11:76890144-76890144
GRCh38: 11:77179098-77179098
47 MYO7A NM_000260.4(MYO7A):c.5856+5G>C SNV Pathogenic 562097 rs1386887007 GRCh37: 11:76918452-76918452
GRCh38: 11:77207407-77207407
48 MYO7A NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) SNV Pathogenic 43164 rs111033180 GRCh37: 11:76883896-76883896
GRCh38: 11:77172850-77172850
49 MYO7A NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) SNV Pathogenic 242392 rs878853236 GRCh37: 11:76885835-76885835
GRCh38: 11:77174789-77174789
50 MYO7A NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) SNV Pathogenic 43169 rs111033201 GRCh37: 11:76885871-76885871
GRCh38: 11:77174825-77174825

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 2:

72
# Symbol AA change Variation ID SNP ID
1 MYO7A p.Arg244Pro VAR_009323 rs121965081
2 MYO7A p.Met599Ile VAR_009330 rs121965082
3 MYO7A p.Cys652Arg VAR_079504

Expression for Deafness, Autosomal Recessive 2

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 2.

Pathways for Deafness, Autosomal Recessive 2

GO Terms for Deafness, Autosomal Recessive 2

Cellular components related to Deafness, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.23 WHRN USH1G USH1C TMC1 TECTA SLC26A4
2 cell projection GO:0042995 10.03 WHRN USH1C PJVK PDZD7 OTOF MYO3A
3 synapse GO:0045202 9.97 WHRN USH1C PCDH15 OTOF MYO7A ADGRV1
4 photoreceptor connecting cilium GO:0032391 9.72 WHRN USH1G USH1C PDZD7 MYO7A
5 photoreceptor outer segment GO:0001750 9.71 USH1C PCDH15 MYO7A
6 myosin complex GO:0016459 9.69 MYO7A MYO3A MYO15A
7 photoreceptor inner segment GO:0001917 9.63 WHRN USH1G USH1C PDZD7 MYO7A ADGRV1
8 USH2 complex GO:1990696 9.58 WHRN PDZD7 ADGRV1
9 stereocilia ankle link complex GO:0002142 9.56 WHRN USH1C PDZD7 ADGRV1
10 stereocilium bundle GO:0032421 9.55 WHRN MYO15A
11 stereocilia ankle link GO:0002141 9.54 WHRN PDZD7 ADGRV1
12 periciliary membrane compartment GO:1990075 9.52 WHRN ADGRV1
13 stereocilium base GO:0120044 9.48 PJVK MYO7A
14 stereocilium tip GO:0032426 9.35 WHRN USH1C TMC1 PDZD7 MYO3A
15 stereocilium GO:0032420 9.28 WHRN USH1C PDZD7 PCDH15 MYO7A MYO3A

Biological processes related to Deafness, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.8 MYO7A MYO3A CDH23 ADGRV1
2 photoreceptor cell maintenance GO:0045494 9.77 USH1G USH1C PCDH15 CDH23 ADGRV1
3 inner ear morphogenesis GO:0042472 9.73 USH1G USH1C MYO7A MYO15A
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.72 WHRN TMC1 PJVK PDZD7 ADGRV1
5 inner ear development GO:0048839 9.71 PCDH15 MYO7A GJB2 ADGRV1
6 establishment of protein localization GO:0045184 9.65 WHRN PDZD7 ADGRV1
7 equilibrioception GO:0050957 9.65 USH1G USH1C PCDH15 MYO7A CDH23
8 auditory receptor cell stereocilium organization GO:0060088 9.63 WHRN PDZD7 MYO7A
9 inner ear receptor cell stereocilium organization GO:0060122 9.63 WHRN USH1G USH1C MYO7A CDH23 ADGRV1
10 vesicle transport along actin filament GO:0030050 9.55 MYO7A MYO15A
11 auditory receptor cell development GO:0060117 9.54 TMC1 PDZD7
12 sensory perception of sound GO:0007605 9.53 WHRN USH1G USH1C TMC1 TECTA SLC26A4
13 inner ear receptor cell differentiation GO:0060113 9.52 USH1G MYO7A
14 inner ear auditory receptor cell differentiation GO:0042491 9.51 USH1C MYO7A
15 sensory perception of light stimulus GO:0050953 9.5 WHRN USH1G USH1C PCDH15 MYO7A CDH23

Molecular functions related to Deafness, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.72 PCDH15 OTOF GJB2 CDH23 ADGRV1
2 motor activity GO:0003774 9.43 MYO7A MYO3A MYO15A
3 spectrin binding GO:0030507 9.33 USH1G USH1C MYO7A
4 microfilament motor activity GO:0000146 9.13 MYO7A MYO3A MYO15A
5 actin-dependent ATPase activity GO:0030898 8.8 MYO7A MYO3A MYO15A

Sources for Deafness, Autosomal Recessive 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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