DFNB2
MCID: DFN250
MIFTS: 44

Deafness, Autosomal Recessive 2 (DFNB2)

Categories: Blood diseases, 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 56 29 13 6 71
Dfnb2 56 12 73 54
Neurosensory Nonsyndromic Recessive Deafness 2 56 73
Autosomal Recessive Nonsyndromic Deafness 2 12 15
Nsrd2 56 73
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 73
Neurosensory Nonsyndromic Recessive Deafness 2; Nsrd2 56
Deafness Neurosensory Autosomal Recessive 2 73
Deafness, Autosomal Recessive, Type 2 39
Deafness, Autosomal Recessive, 2 73
Autosomal Recessive Deafness 2 12

Characteristics:

OMIM:

56
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 56 600060
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1838701
UMLS 71 C1838701

Summaries for Deafness, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 73 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 retinitis pigmentosa-deafness syndrome and nonsyndromic deafness, and has symptoms including vertigo An important gene associated with Deafness, Autosomal Recessive 2 is MYO7A (Myosin VIIA). Affiliated tissues include brain, 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 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 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 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 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 125)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 31.2 WHRN CDH23
2 nonsyndromic deafness 30.9 PCDH15 MYO15A GJB2
3 dfnb1 30.2 PCDH15 OTOF MYO7A GJB2
4 deafness, autosomal recessive 31 29.7 WHRN PDZD7 ADGRV1
5 retinal disease 28.4 USH1G USH1C PDZD7 PCDH15 MYO7A CDH23
6 branchiootic syndrome 1 28.1 WHRN USH1G TMC1 TECTA SLC26A4 PJVK
7 deafness, autosomal dominant 11 27.7 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
8 nonsyndromic hearing loss 27.2 TMC1 TECTA SLC26A4 PJVK PCDH15 OTOF
9 autosomal recessive nonsyndromic deafness 26.7 WHRN TMC1 TECTA SLC26A4 PJVK PCDH15
10 autosomal recessive non-syndromic sensorineural deafness type dfnb 26.6 WHRN USH1C TMC1 TECTA SLC26A4 PJVK
11 retinitis pigmentosa 26.3 WHRN USH1G USH1C TMC1 SLC26A4 PDZD7
12 sensorineural hearing loss 25.8 WHRN USH1G USH1C TMC1 TECTA SLC26A4
13 usher syndrome 25.8 WHRN USH1G USH1C TMC1 SLC26A4 PDZD7
14 usher syndrome, type i 24.9 WHRN USH1G USH1C TMC1 TECTA SLC26A4
15 deafness, autosomal dominant 3b 10.4 TECTA GJB2
16 deafness, autosomal recessive 91 10.4 TECTA GJB2
17 usher syndrome, type ik 10.3 PCDH15 CDH23
18 deafness, autosomal recessive 26 10.3 TECTA GJB2
19 deafness, autosomal recessive 102 10.3 WHRN MYO15A
20 deafness, autosomal recessive 3 10.3 MYO7A MYO15A GJB2
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
22 deafness, autosomal recessive 1b 10.3 MYO15A GJB2
23 deafness, autosomal dominant 65 10.3 WHRN PCDH15
24 deafness, autosomal dominant 9 10.2 MYO7A GJB2
25 neuroretinitis 10.2
26 retinitis 10.2
27 deafness, autosomal recessive 53 10.2 TECTA PJVK
28 deafness, autosomal recessive 25 10.2 PJVK MYO15A
29 deafness, autosomal dominant 15 10.2 TMC1 MYO7A
30 deafness, autosomal dominant 67 10.2 OTOF GJB2
31 deafness, autosomal recessive 35 10.2 PJVK MYO15A
32 deafness, autosomal dominant 25 10.2 OTOF MYO7A
33 deafness, autosomal recessive 27 10.2 TMC1 PJVK
34 acute hemorrhagic leukoencephalitis 10.2 USH1G MYO7A CDH23
35 deafness, autosomal recessive 29 10.2 TECTA GJB2
36 deafness, autosomal recessive 67 10.1 PJVK PCDH15
37 deafness, autosomal recessive 28 10.1 TECTA OTOF MYO15A
38 deafness, autosomal recessive 86 10.1 WHRN PCDH15 CDH23
39 deafness, autosomal recessive 62 10.1 CDH23 ADGRV1
40 deafness, autosomal recessive 85 10.1 PJVK OTOF
41 deafness, autosomal recessive 100 10.1 MYO7A ADGRV1
42 deafness, autosomal recessive 59 10.1 PJVK OTOF
43 deafness, autosomal recessive 49 10.1 PJVK MYO15A GJB2
44 ear malformation 10.1 SLC26A4 GJB2
45 deafness, autosomal recessive 24 10.1 TECTA PJVK MYO15A
46 deafness, autosomal recessive 15 10.1 PJVK MYO15A
47 deafness, x-linked 5, with peripheral neuropathy 10.1 PJVK OTOF
48 yemenite deaf-blind hypopigmentation syndrome 10.1
49 retinal degeneration 10.1
50 deafness, autosomal dominant nonsyndromic sensorineural 3 10.1

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:

56
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

UMLS symptoms related to Deafness, Autosomal Recessive 2:


vertigo

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 2:

45
# 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
Brain

Publications for Deafness, Autosomal Recessive 2

Articles related to Deafness, Autosomal Recessive 2:

(show all 35)
# Title Authors PMID Year
1
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 54 61 56 6
18181211 2008
2
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. 56 61 6
20132242 2010
3
From DFNB2 to Usher syndrome: variable expressivity of the same disease. 61 56 6
11391666 2001
4
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 61 56 6
9171833 1997
5
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. 56 6 61
9171832 1997
6
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. 6 56
7951250 1994
7
Defective myosin VIIA gene responsible for Usher syndrome type 1B. 56
7870171 1995
8
A type VII myosin encoded by the mouse deafness gene shaker-1. 56
7870172 1995
9
A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. 61 54
17211611 2007
10
Searching for evidence of DFNB2. 61 54
11992483 2002
11
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. 61 54
11101839 2000
12
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness. 54 61
10958658 2000
13
Genomics and hearing impairment. 54 61
9927480 1999
14
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 61 54
8776602 1996
15
Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations. 61
31700827 2019
16
Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon. 61
28346292 2017
17
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. 61
28472130 2017
18
Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran. 61
28451532 2017
19
Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family. 61
26968074 2016
20
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 61
24194196 2014
21
Inner ear morphology is perturbed in two novel mouse models of recessive deafness. 61
23251483 2012
22
Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss. 61
23113071 2011
23
Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness. 61
21031134 2010
24
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
25
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 61
19375528 2009
26
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
27
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 61
15221449 2004
28
Hereditary deafness and phenotyping in humans. 61
12324385 2002
29
The clinical presentation of DFNB2. 61
12408073 2002
30
Sensorineural hearing impairment: non-syndromic, recessive DFNB2. 61
10868224 2000
31
Unconventional myosins and the genetics of hearing loss. 61
10704189 1999
32
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 61
9336442 1997
33
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. 61
9150164 1997
34
Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families. 61
15945170 1997
35
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. 61
8789457 1996

Variations for Deafness, Autosomal Recessive 2

ClinVar genetic disease variations for Deafness, Autosomal Recessive 2:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO7A NM_000260.4(MYO7A):c.565_566del (p.Val189fs)deletion Pathogenic 397509 rs1060499651 11:76867800-76867801 11:77156754-77156755
2 MYO7A NM_000260.4(MYO7A):c.2307del (p.Asn769fs)deletion Pathogenic 402264 rs1060499800 11:76890115-76890115 11:77179069-77179069
3 MYO7A NM_000260.4(MYO7A):c.4153-2A>GSNV Pathogenic 402268 rs1060499803 11:76905397-76905397 11:77194352-77194352
4 MYO7A NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter)SNV Pathogenic 402266 rs1060499802 11:76922356-76922356 11:77211311-77211311
5 MYO7A NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)SNV Pathogenic 402267 rs747656448 11:76924953-76924953 11:77213908-77213908
6 MYO7A NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)deletion Pathogenic 438178 rs1199012623 11:76910849-76910849 11:77199804-77199804
7 MYO7A NM_000260.4(MYO7A):c.19-2A>GSNV Pathogenic 558668 rs1555051384 11:76853753-76853753 11:77142707-77142707
8 MYO7A NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)SNV Pathogenic 504505 rs1555051455 11:76853788-76853788 11:77142742-77142742
9 MYO7A NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)SNV Pathogenic 504508 rs782539587 11:76872076-76872076 11:77161030-77161030
10 MYO7A NM_000260.4(MYO7A):c.133-2A>GSNV Pathogenic 555778 rs782064437 11:76858842-76858842 11:77147796-77147796
11 MYO7A NM_000260.4(MYO7A):c.3504-1G>CSNV Pathogenic 554480 rs1555090171 11:76900388-76900388 11:77189343-77189343
12 MYO7A NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)SNV Pathogenic 551138 rs766641715 11:76903288-76903288 11:77192243-77192243
13 MYO7A NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)SNV Pathogenic 557045 rs878864531 11:76916607-76916607 11:77205562-77205562
14 MYO7A NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)SNV Pathogenic 550026 rs1279918132 11:76890874-76890874 11:77179828-77179828
15 MYO7A NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)SNV Pathogenic 555608 rs782694195 11:76900479-76900479 11:77189434-77189434
16 MYO7A NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)deletion Pathogenic 556038 rs1555096223 11:76905541-76905541 11:77194496-77194496
17 MYO7A NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)deletion Pathogenic 556569 rs1299898646 11:76916656-76916656 11:77205611-77205611
18 MYO7A NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)deletion Pathogenic 553558 rs1397834886 11:76919502-76919505 11:77208457-77208460
19 MYO7A NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)SNV Pathogenic 551885 rs773945008 11:76922949-76922949 11:77211904-77211904
20 MYO7A NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)SNV Pathogenic 562084 rs781989117 11:76853756-76853756 11:77142710-77142710
21 MYO7A NM_000260.4(MYO7A):c.2339del (p.Gly780fs)deletion Pathogenic 562093 rs1565402473 11:76890144-76890144 11:77179098-77179098
22 MYO7A NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg)SNV Pathogenic 562092 rs750358148 11:76901162-76901162 11:77190117-77190117
23 MYO7A NM_000260.4(MYO7A):c.5856+5G>CSNV Pathogenic 562097 rs1386887007 11:76918452-76918452 11:77207407-77207407
24 MYO7A NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter)SNV Pathogenic 627465 rs1565455391 11:76908641-76908641 11:77197596-77197596
25 MYO7A NM_000260.4(MYO7A):c.183del (p.Thr62fs)deletion Pathogenic 802701 11:76858891-76858891 11:77147845-77147845
26 MYO7A NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs)duplication Pathogenic 802704 11:76871324-76871325 11:77160278-77160279
27 MYO7A NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)SNV Pathogenic 802705 11:76877119-76877119 11:77166073-77166073
28 MYO7A NM_000260.4(MYO7A):c.2750del (p.Glu917fs)deletion Pathogenic 802707 11:76892481-76892481 11:77181435-77181435
29 MYO7A NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)SNV Pathogenic 802708 11:76909587-76909587 11:77198542-77198542
30 MYO7A NM_000260.4(MYO7A):c.6439-1G>ASNV Pathogenic 802710 11:76924904-76924904 11:77213859-77213859
31 MYO7A NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)SNV Pathogenic 11853 rs121965081 11:76868046-76868046 11:77157000-77157000
32 MYO7A MYO7A, 1-BP INS, EX28insertion Pathogenic 11855
33 MYO7A NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)SNV Pathogenic 11856 rs121965082 11:76877208-76877208 11:77166162-77166162
34 MYO7A NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)SNV Pathogenic 11859 rs35689081 11:76853829-76853829 11:77142783-77142783
35 MYO7A NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)SNV Pathogenic 11860 rs121965085 11:76885862-76885862 11:77174816-77174816
36 MYO7A NM_000260.4(MYO7A):c.5143_5145GAG[1] (p.Glu1716del)short repeat Pathogenic 11864 rs1555102843 11:76913443-76913445 11:77202398-77202400
37 MYO7A NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)SNV Pathogenic 29926 rs387906700 11:76871312-76871312 11:77160266-77160266
38 MYO7A NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)SNV Pathogenic 11848 rs41298133 11:76868015-76868015 11:77156969-77156969
39 MYO7A NM_000260.4(MYO7A):c.1344-2A>GSNV Pathogenic 43143 rs111033415 11:76873164-76873164 11:77162118-77162118
40 MYO7A NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)SNV Pathogenic 43164 rs111033180 11:76883896-76883896 11:77172850-77172850
41 MYO7A NM_000260.4(MYO7A):c.2283-1G>TSNV Pathogenic 43178 rs397516295 11:76890090-76890090 11:77179044-77179044
42 MYO7A NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)SNV Pathogenic 43218 rs111033178 11:76901153-76901153 11:77190108-77190108
43 MYO7A NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)SNV Pathogenic 43264 rs111033174 11:76867729-76867729 11:77156683-77156683
44 MYO7A NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)SNV Pathogenic 43282 rs397516317 11:76915186-76915186 11:77204141-77204141
45 MYO7A NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)SNV Pathogenic 43292 rs397516322 11:76916644-76916644 11:77205599-77205599
46 MYO7A NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)SNV Pathogenic 43318 rs111033198 11:76922215-76922215 11:77211170-77211170
47 MYO7A NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)deletion Pathogenic 43313 rs397516326 11:76919821-76919821 11:77208776-77208776
48 MYO7A NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)SNV Pathogenic 43345 rs111033285 11:76869472-76869472 11:77158426-77158426
49 MYO7A NM_000260.4(MYO7A):c.470+1G>ASNV Pathogenic 177712 rs797044510 11:76867138-76867138 11:77156092-77156092
50 MYO7A NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)SNV Pathogenic 179479 rs797044516 11:76895760-76895760 11:77184715-77184715

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

73
# 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 14)
# 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 9.98 WHRN USH1C PDZD7 OTOF MYO3A MYO15A
3 synapse GO:0045202 9.95 WHRN USH1C PCDH15 OTOF MYO7A ADGRV1
4 photoreceptor connecting cilium GO:0032391 9.77 WHRN USH1G USH1C PDZD7 MYO7A
5 photoreceptor outer segment GO:0001750 9.7 USH1C PCDH15 MYO7A
6 myosin complex GO:0016459 9.67 MYO7A MYO3A MYO15A
7 stereocilia ankle link complex GO:0002142 9.62 WHRN USH1C PDZD7 ADGRV1
8 USH2 complex GO:1990696 9.58 WHRN PDZD7 ADGRV1
9 stereocilia ankle link GO:0002141 9.56 WHRN USH1C PDZD7 ADGRV1
10 stereocilium tip GO:0032426 9.55 WHRN USH1C TMC1 PDZD7 MYO3A
11 stereocilium bundle GO:0032421 9.54 WHRN MYO15A
12 periciliary membrane compartment GO:1990075 9.51 WHRN ADGRV1
13 photoreceptor inner segment GO:0001917 9.43 WHRN USH1G USH1C PDZD7 MYO7A ADGRV1
14 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 18)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.91 PCDH15 MYO7A MYO3A CDH23 ADGRV1
2 inner ear morphogenesis GO:0042472 9.8 USH1G USH1C MYO7A MYO15A
3 photoreceptor cell maintenance GO:0045494 9.8 USH1G USH1C PCDH15 CDH23 ADGRV1
4 inner ear development GO:0048839 9.76 PCDH15 MYO7A GJB2 ADGRV1
5 actin filament organization GO:0007015 9.75 PCDH15 MYO7A MYO15A
6 locomotory behavior GO:0007626 9.73 PCDH15 MYO15A CDH23
7 auditory receptor cell stereocilium organization GO:0060088 9.73 WHRN PDZD7 PCDH15 MYO7A
8 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.72 WHRN TMC1 PDZD7 PCDH15 ADGRV1
9 establishment of protein localization GO:0045184 9.7 WHRN PDZD7 ADGRV1
10 inner ear receptor cell stereocilium organization GO:0060122 9.7 WHRN USH1G USH1C PCDH15 MYO7A CDH23
11 inner ear auditory receptor cell differentiation GO:0042491 9.67 USH1C PDZD7 PCDH15 MYO7A
12 inner ear receptor cell development GO:0060119 9.65 WHRN USH1C PDZD7
13 equilibrioception GO:0050957 9.65 USH1G USH1C PCDH15 MYO7A CDH23
14 vesicle transport along actin filament GO:0030050 9.57 MYO7A MYO15A
15 auditory receptor cell development GO:0060117 9.55 TMC1 PDZD7
16 inner ear receptor cell differentiation GO:0060113 9.54 USH1G MYO7A
17 sensory perception of sound GO:0007605 9.53 WHRN USH1G USH1C TMC1 TECTA SLC26A4
18 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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