MCID: DFN250
MIFTS: 40

Deafness, Autosomal Recessive 2

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

Aliases & Classifications for Deafness, Autosomal Recessive 2

MalaCards integrated aliases for Deafness, Autosomal Recessive 2:

Name: Deafness, Autosomal Recessive 2 54 29 13 69
Dfnb2 12 71 52
Autosomal Recessive Nonsyndromic Deafness 2 12 14
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 71
Neurosensory Nonsyndromic Recessive Deafness 2 71
Deafness Neurosensory Autosomal Recessive 2 71
Deafness, Autosomal Recessive, 2 71
Autosomal Recessive Deafness 2 12
Nsrd2 71

Characteristics:

OMIM:

54
Miscellaneous:
allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, ) and usher syndrome type ib
onset usually at birth, but may occur later

Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 600060
Disease Ontology 12 DOID:0110477
ICD10 33 H90.3
MedGen 40 C1838701
MeSH 42 D006319

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 anal canal carcinoma and hyperphenylalaninemia, mild, non-bh4-deficient, and has symptoms including vertigo, sensorineural hearing impairment and vertigo. An important gene associated with Deafness, Autosomal Recessive 2 is MYO7A (Myosin VIIA), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and 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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

(show all 39)
id Related Disease Score Top Affiliating Genes
1 anal canal carcinoma 10.2 GJB2 TECTA
2 hyperphenylalaninemia, mild, non-bh4-deficient 10.1 GJB2 MYO7A
3 robinow syndrome, autosomal dominant 1 10.1 GJB2 MYO7A
4 fascioliasis 10.1 GJB2 MYO15A
5 pigmented nodular adrenocortical disease, primary, 2 10.1 GJB2 OTOF
6 pituitary adenoma 10.0 GJB2 MYO7A
7 developmental dysplasia of the hip 1 10.0 GJB2 OTOF
8 fibrosis of extraocular muscles, congenital, 2 10.0 GJB2 MYO7A
9 bifid nose with or without anorectal and renal anomalies 9.8 MYO15A MYO7A OTOF
10 ectodermal dysplasia 6, hair/nail type 9.8 MYO15A MYO7A OTOF
11 deafness, autosomal recessive 9.8 GJB2 OTOF
12 usher syndrome 9.8
13 nonsyndromic deafness 9.8
14 dfnb1 9.8
15 diabetes persistent mullerian ducts 9.8 GJB2 MYO7A OTOF
16 x-linked nonsyndromic deafness 9.8 MYO6 MYO7A TECTA
17 leber congenital amaurosis 14 9.8 GJB2 OTOF TECTA
18 microcephaly and chorioretinopathy, autosomal recessive, 3 9.7 GJB2 MYO7A OTOF
19 deafness, autosomal recessive 9 9.7 GJB2 OTOF TECTA
20 congenital muscular dystrophy due to lmna mutation 9.7 GJB2 MYO7A OTOF
21 ausems wittebol-post hennekam syndrome 9.7 GJB2 OTOF
22 deafness, autosomal recessive 53 9.7 GJB2 MYO7A OTOF
23 dihydrolipoamide dehydrogenase deficiency 9.7 GJB2 MYO7A OTOF
24 mixed lacrimal gland cancer 9.7 GJB2 MYO7A
25 orofacial cleft 9.6 GJB2 MYO15A OTOF
26 preterm premature rupture of the membranes 9.0 MYO15A MYO1A MYO6 MYO7A
27 narcissistic personality disorder 9.0 GJB2 MYO15A MYO7A OTOF TECTA
28 fundus albipunctatus 8.9 MYO15A MYO1A MYO6 MYO7A
29 deafness, autosomal recessive 37 8.9 MYO15A MYO1A MYO6 MYO7A
30 ullrich congenital muscular dystrophy 2 8.9 MYO15A MYO1A MYO6 MYO7A
31 macrothrombocytopenia and progressive sensorineural deafness 8.9 MYO15A MYO1A MYO6 MYO7A
32 nonsyndromic hydrocephalus, ccdc88c-related 8.7 GJB2 MYO15A MYO6 OTOF TECTA
33 endometritis 8.7 GJB2 MYO15A MYO6 MYO7A OTOF
34 nodular lichen myxedematosus 8.5 GJB2 MYO1A MYO6 MYO7A TECTA
35 severe combined immunodeficiency, athabascan type 8.4 GJB2 MYO15A MYO1A MYO6 MYO7A
36 discrete papular lichen myxedematosus 8.3 GJB2 MYO15A MYO6 MYO7A OTOF TECTA
37 autosomal recessive nonsyndromic deafness 8.3 GJB2 MYO15A MYO6 MYO7A OTOF TECTA
38 deafness, autosomal dominant 11 7.5 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
39 autosomal recessive nonsyndromic deafness 8 7.5 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:

54

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

Human phenotypes related to Deafness, Autosomal Recessive 2:

32
id Description HPO Frequency HPO Source Accession
1 vertigo 32 HP:0002321
2 sensorineural hearing impairment 32 HP:0000407

UMLS symptoms related to Deafness, Autosomal Recessive 2:


vertigo

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 2:

44
id 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 GJB2 MYO15A MYO6 MYO7A OTOF TECTA
3 no phenotypic analysis MP:0003012 8.92 GJB2 MYO7A OTOF TECTA

Drugs & Therapeutics for Deafness, Autosomal Recessive 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027

Search NIH Clinical Center for Deafness, Autosomal Recessive 2

Genetic Tests for Deafness, Autosomal Recessive 2

Genetic tests related to Deafness, Autosomal Recessive 2:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 2 29

Anatomical Context for Deafness, Autosomal Recessive 2

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

39
Brain

Publications for Deafness, Autosomal Recessive 2

Variations for Deafness, Autosomal Recessive 2

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

71
id Symbol AA change Variation ID SNP ID
1 MYO7A p.Arg244Pro VAR_009323 rs121965081
2 MYO7A p.Met599Ile VAR_009330 rs121965082

ClinVar genetic disease variations for Deafness, Autosomal Recessive 2:

6 (show all 19)
id 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 MYO7A, 3-BP DEL, 5146GAG deletion Pathogenic
6 MYO7A NM_000260.3(MYO7A): c.1184G> A (p.Arg395His) single nucleotide variant Pathogenic rs387906700 GRCh37 Chromosome 11, 76871312: 76871312
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.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376764423 GRCh37 Chromosome 11, 76919517: 76919517
11 MYO7A NM_000260.3(MYO7A): c.620A> G (p.Asn207Ser) single nucleotide variant Pathogenic rs878853235 GRCh38 Chromosome 11, 77156889: 77156889
12 MYO7A NM_000260.3(MYO7A): c.2323C> T (p.Gln775Ter) single nucleotide variant Likely pathogenic rs201892914 GRCh37 Chromosome 11, 76890131: 76890131
13 MYO7A NM_000260.3(MYO7A): c.3262C> T (p.Gln1088Ter) single nucleotide variant Likely pathogenic rs376535635 GRCh37 Chromosome 11, 76893622: 76893622
14 MYO7A NM_000260.3(MYO7A): c.565_566delGT (p.Val189Leufs) deletion Pathogenic rs1060499651 GRCh38 Chromosome 11, 77156754: 77156755
15 MYO7A NM_001127179.2(MYO7A): c.2307delC (p.Asn769Lysfs) deletion Pathogenic rs1060499800 GRCh38 Chromosome 11, 77179069: 77179069
16 MYO7A NM_001127180.1(MYO7A): c.4153-2A> G single nucleotide variant Pathogenic rs1060499803 GRCh38 Chromosome 11, 77194352: 77194352
17 MYO7A NM_000260.3(MYO7A): c.6196C> T (p.Gln2066Ter) single nucleotide variant Pathogenic rs1060499801 GRCh38 Chromosome 11, 77211296: 77211296
18 MYO7A NM_000260.3(MYO7A): c.6211C> T (p.Gln2071Ter) single nucleotide variant Pathogenic rs1060499802 GRCh38 Chromosome 11, 77211311: 77211311
19 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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.46 MYO15A MYO1A MYO6 MYO7A
2 actin filament binding GO:0051015 9.43 MYO1A MYO6 MYO7A
3 ADP binding GO:0043531 9.32 MYO6 MYO7A
4 calmodulin binding GO:0005516 9.26 MYO15A MYO1A MYO6 MYO7A
5 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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