MCID: DFN250
MIFTS: 42

Deafness, Autosomal Recessive 2

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

Aliases & Classifications for Deafness, Autosomal Recessive 2

MalaCards integrated aliases for Deafness, Autosomal Recessive 2:

Name: Deafness, Autosomal Recessive 2 53 28 13 69
Dfnb2 53 12 71 51
Neurosensory Nonsyndromic Recessive Deafness 2 53 71
Autosomal Recessive Nonsyndromic Deafness 2 12 14
Nsrd2 53 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 71
Neurosensory Nonsyndromic Recessive Deafness 2; Nsrd2 53
Deafness Neurosensory Autosomal Recessive 2 71
Deafness, Autosomal Recessive, 2 71
Autosomal Recessive Deafness 2 12

Characteristics:

OMIM:

53
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:

OMIM 53 600060
Disease Ontology 12 DOID:0110477
ICD10 32 H90.3
MedGen 39 C1838701
MeSH 41 D006319
UMLS 69 C1838701

Summaries for Deafness, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 71 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 deafness, autosomal dominant 11, and has symptoms including sensorineural hearing impairment, vertigo and vertigo. An important gene associated with Deafness, Autosomal Recessive 2 is MYO7A (Myosin VIIA), and among its related pathways/superpathways are PAK Pathway and Sweet Taste Signaling. Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and nervous system

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

Description from OMIM: 600060

Related Diseases for Deafness, Autosomal Recessive 2

Diseases in the Familial Deafness family:

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

Diseases related to Deafness, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 dfnb1 29.4 GJB2 MYO7A OTOF
2 deafness, autosomal dominant 11 28.5 MYO15A MYO1A MYO6 MYO7A
3 nonsyndromic deafness 26.9 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
4 branchiootic syndrome 1 10.1
5 deafness, autosomal recessive 21 10.1 GJB2 TECTA
6 deafness, autosomal recessive 23 10.0 GJB2 MYO7A
7 deafness, autosomal recessive 59 10.0 GJB2 OTOF
8 deafness, autosomal recessive 6 10.0 GJB2 MYO7A
9 hodgkin's lymphoma, nodular sclerosis 10.0 GJB2 MYO15A
10 auditory neuropathy, autosomal dominant, 1 9.9 GJB2 OTOF
11 deafness, autosomal recessive 63 9.9 GJB2 MYO7A
12 retinitis pigmentosa-deafness syndrome 9.8
13 usher syndrome 9.8
14 deafness, autosomal recessive 12 9.8 GJB2 MYO7A
15 deafness, autosomal recessive 3 9.8 GJB2 MYO15A MYO7A
16 deafness, autosomal recessive 85 9.8 MYO15A MYO7A OTOF
17 deafness, autosomal recessive 83 9.8 MYO15A MYO7A OTOF
18 deafness, autosomal recessive 16 9.8 GJB2 MYO7A OTOF
19 deafness, autosomal recessive 9 9.8 GJB2 OTOF TECTA
20 deafness, autosomal recessive 26 9.7 GJB2 OTOF TECTA
21 deafness, autosomal dominant 6 9.7 GJB2 MYO7A OTOF
22 deafness, autosomal dominant 13 9.7 GJB2 MYO7A OTOF
23 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB2 MYO7A OTOF
24 inner ear disease 9.7 GJB2 MYO7A
25 autosomal recessive nonsyndromic deafness 9.7 GJB2 MYO15A OTOF
26 deafness, autosomal recessive 9.5 GJB2 MYO6 OTOF
27 deafness, autosomal dominant 48 9.2 MYO15A MYO1A MYO6 MYO7A
28 auditory system disease 9.2 GJB2 MYO15A MYO7A OTOF TECTA
29 deafness, autosomal dominant 22 9.2 MYO15A MYO1A MYO6 MYO7A
30 deafness, autosomal recessive 37 9.2 MYO15A MYO1A MYO6 MYO7A
31 deafness, autosomal dominant 17 9.2 MYO15A MYO1A MYO6 MYO7A
32 non-syndromic genetic deafness 9.0 GJB2 MYO15A MYO6 OTOF TECTA
33 sensorineural hearing loss 9.0 GJB2 MYO15A MYO6 MYO7A OTOF
34 autosomal dominant non-syndromic sensorineural deafness type dfna 8.8 GJB2 MYO1A MYO6 MYO7A TECTA
35 deafness, autosomal recessive 30 8.8 GJB2 MYO15A MYO1A MYO6 MYO7A
36 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.7 GJB2 MYO15A MYO6 MYO7A OTOF TECTA
37 autosomal dominant nonsyndromic deafness 8.4 GJB2 MYO1A MYO6 MYO7A OTOF TECTA
38 autosomal recessive nonsyndromic deafness 3 8.1 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, prelingual
hearing loss affects all frequencies

Neurologic Central Nervous System:
vestibular dysfunction
vertigo


Clinical features from OMIM:

600060

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

UMLS symptoms related to Deafness, Autosomal Recessive 2:


vertigo

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 2:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.7 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
2 nervous system MP:0003631 9.43 TECTA GJB2 MYO15A MYO6 MYO7A OTOF
3 no phenotypic analysis MP:0003012 8.92 GJB2 MYO7A OTOF TECTA

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 28 MYO7A

Anatomical Context for Deafness, Autosomal Recessive 2

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

38
Brain

Publications for Deafness, Autosomal Recessive 2

Articles related to Deafness, Autosomal Recessive 2:

# Title Authors Year
1
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. ( 24194196 )
2014
2
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. ( 20132242 )
2010
3
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. ( 18181211 )
2008
4
Searching for evidence of DFNB2. ( 11992483 )
2002
5
From DFNB2 to Usher syndrome: variable expressivity of the same disease. ( 11391666 )
2001
6
Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families. ( 15945170 )
1997
7
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. ( 9171833 )
1997
8
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. ( 8776602 )
1996

Variations for Deafness, Autosomal Recessive 2

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

71
# 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

ClinVar genetic disease variations for Deafness, Autosomal Recessive 2:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO7A NM_000260.3(MYO7A): c.731G> C (p.Arg244Pro) single nucleotide variant Pathogenic rs121965081 GRCh37 Chromosome 11, 76868046: 76868046
2 MYO7A MYO7A, IVS3AS, A-G, -2 single nucleotide variant Pathogenic
3 MYO7A MYO7A, 1-BP INS, EX28 insertion Pathogenic
4 MYO7A NM_000260.3(MYO7A): c.1797G> A (p.Met599Ile) single nucleotide variant Pathogenic rs121965082 GRCh37 Chromosome 11, 76877208: 76877208
5 MYO7A NM_000260.3(MYO7A): c.5146_5148delGAG (p.Glu1716del) deletion Pathogenic GRCh38 Chromosome 11, 77202402: 77202404
6 MYO7A NM_000260.3(MYO7A): c.1184G> A (p.Arg395His) single nucleotide variant Pathogenic rs387906700 GRCh38 Chromosome 11, 77160266: 77160266
7 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh37 Chromosome 11, 76885871: 76885871
8 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh37 Chromosome 11, 76901755: 76901755
9 MYO7A NM_000260.3(MYO7A): c.397dupC (p.His133Profs) duplication Likely pathogenic rs111033187 GRCh37 Chromosome 11, 76867064: 76867064
10 MYO7A NM_000260.3(MYO7A): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs111033283 GRCh37 Chromosome 11, 76867955: 76867955
11 MYO7A NM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376764423 GRCh37 Chromosome 11, 76919517: 76919517
12 MYO7A NM_000260.3(MYO7A): c.620A> G (p.Asn207Ser) single nucleotide variant Pathogenic rs878853235 GRCh38 Chromosome 11, 77156889: 77156889
13 MYO7A NM_000260.3(MYO7A): c.2323C> T (p.Gln775Ter) single nucleotide variant Likely pathogenic rs201892914 GRCh37 Chromosome 11, 76890131: 76890131
14 MYO7A NM_000260.3(MYO7A): c.3262C> T (p.Gln1088Ter) single nucleotide variant Likely pathogenic rs376535635 GRCh37 Chromosome 11, 76893622: 76893622
15 MYO7A NM_000260.3(MYO7A): c.565_566delGT (p.Val189Leufs) deletion Pathogenic rs1060499651 GRCh38 Chromosome 11, 77156754: 77156755
16 MYO7A NM_000260.3(MYO7A): c.2307delC (p.Asn769Lysfs) deletion Pathogenic rs1060499800 GRCh38 Chromosome 11, 77179069: 77179069
17 MYO7A NM_001127180.1(MYO7A): c.4153-2A> G single nucleotide variant Pathogenic rs1060499803 GRCh38 Chromosome 11, 77194352: 77194352
18 MYO7A NM_000260.3(MYO7A): c.6196C> T (p.Gln2066Ter) single nucleotide variant Pathogenic rs1060499801 GRCh38 Chromosome 11, 77211296: 77211296
19 MYO7A NM_000260.3(MYO7A): c.6211C> T (p.Gln2071Ter) single nucleotide variant Pathogenic rs1060499802 GRCh38 Chromosome 11, 77211311: 77211311
20 MYO7A NM_000260.3(MYO7A): c.6487G> A (p.Gly2163Ser) single nucleotide variant Pathogenic rs747656448 GRCh38 Chromosome 11, 77213908: 77213908

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:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.32 GJB2 MYO1A
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 Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.26 MYO15A MYO7A
2 sensory perception of sound GO:0007605 9.17 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
3 inner ear development GO:0048839 9.16 GJB2 MYO7A
4 actin filament-based movement GO:0030048 8.96 MYO6 MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.67 MYO15A MYO1A MYO6 MYO7A
2 actin binding GO:0003779 9.46 MYO15A MYO1A MYO6 MYO7A
3 actin filament binding GO:0051015 9.43 MYO1A MYO6 MYO7A
4 ADP binding GO:0043531 9.32 MYO6 MYO7A
5 calmodulin binding GO:0005516 9.26 MYO15A MYO1A MYO6 MYO7A
6 motor activity GO:0003774 8.92 MYO15A MYO1A MYO6 MYO7A

Sources for Deafness, Autosomal Recessive 2

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