MCID: DFN197
MIFTS: 41

Deafness, Autosomal Recessive 37

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

Aliases & Classifications for Deafness, Autosomal Recessive 37

MalaCards integrated aliases for Deafness, Autosomal Recessive 37:

Name: Deafness, Autosomal Recessive 37 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 37 12 14
Dfnb37 12 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37 71
Congenital Neurosensory Deafness Autosomal Recessive 37 71
Deafness, Autosomal Recessive, 37 71
Autosomal Recessive Deafness 37 12

Characteristics:

OMIM:

54
Miscellaneous:
based on one report of 3 consanguineous pakistani families (last curated august 2015)
eye and vestibular findings were found in some members of one family

Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 37:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607821
Disease Ontology 12 DOID:0110495
ICD10 33 H90.3
MedGen 40 C1843028
MeSH 42 D006319

Summaries for Deafness, Autosomal Recessive 37

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 37: 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 37, also known as autosomal recessive nonsyndromic deafness 37, is related to dfnb37 nonsyndromic hearing loss and deafness and seizures, cortical blindness, microcephaly syndrome, and has symptoms including rod-cone dystrophy, vestibular dysfunction and congenital stationary night blindness. An important gene associated with Deafness, Autosomal Recessive 37 is MYO6 (Myosin VI), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include brain and eye, and related phenotypes are Decreased CYP1A1 activity after TCDD stimulation and Decreased Salmonella enterica Typhimurium effector injection

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the MYO6 gene on chromosome 6q14.

Description from OMIM: 607821

Related Diseases for Deafness, Autosomal Recessive 37

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

(show all 21)
id Related Disease Score Top Affiliating Genes
1 dfnb37 nonsyndromic hearing loss and deafness 11.8
2 seizures, cortical blindness, microcephaly syndrome 10.3 MYO1A MYO3A
3 nonsyndromic hydrocephalus, ccdc88c-related 10.1 MYO15A MYO6 TRIOBP
4 orofacial cleft 10.0 MYO15A TRIOBP
5 bifid nose with or without anorectal and renal anomalies 10.0 MYO15A MYO7A
6 ectodermal dysplasia 6, hair/nail type 10.0 MYO15A MYO7A
7 congenital muscular dystrophy due to lmna mutation 10.0 MYH14 MYO7A
8 x-linked nonsyndromic deafness 9.9 MYH14 MYO6 MYO7A
9 preterm premature rupture of the membranes 9.6 MYO15A MYO1A MYO6 MYO7A
10 deafness, autosomal dominant 11 9.6 MYO15A MYO1A MYO6 MYO7A
11 narcissistic personality disorder 9.5 MYH9 MYO15A MYO7A
12 mixed lacrimal gland cancer 9.4 MYH9 MYO7A
13 endometritis 9.2 MYH9 MYO15A MYO6 MYO7A
14 nodular lichen myxedematosus 9.0 MYH14 MYH9 MYO1A MYO6 MYO7A
15 discrete papular lichen myxedematosus 8.7 MYH9 MYO15A MYO3A MYO6 MYO7A TRIOBP
16 severe combined immunodeficiency, athabascan type 8.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
17 fundus albipunctatus 8.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
18 macrothrombocytopenia and progressive sensorineural deafness 8.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
19 autosomal recessive nonsyndromic deafness 8.3 MYH14 MYH9 MYO15A MYO3A MYO6 MYO7A
20 autosomal recessive nonsyndromic deafness 8 8.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
21 ullrich congenital muscular dystrophy 2 6.2 DAB2 LMTK2 MYH14 MYH9 MYO15A MYO1A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 37:



Diseases related to Deafness, Autosomal Recessive 37

Symptoms & Phenotypes for Deafness, Autosomal Recessive 37

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
retinitis pigmentosa (in 1 patient)
congenital stationary night blindness (in 1 patient)

Head And Neck- Ears:
vestibular dysfunction (in 2 patients)
hearing loss, sensorineural, bilateral (severe to profound)


Clinical features from OMIM:

607821

Human phenotypes related to Deafness, Autosomal Recessive 37:

32
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 occasional (7.5%) HP:0000510
2 vestibular dysfunction 32 very rare (1%) HP:0001751
3 congenital stationary night blindness 32 occasional (7.5%) HP:0007642
4 bilateral sensorineural hearing impairment 32 HP:0008619

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased CYP1A1 activity after TCDD stimulation GR00155-A 8.96 LMTK2 MYO3A
2 Decreased Salmonella enterica Typhimurium effector injection GR00133-A-4 8.62 MYO3A TOM1

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 37:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 MYH9 MYO15A MYO1A MYO3A MYO6 MYO7A
2 nervous system MP:0003631 9.23 MYO6 MYO7A TRIOBP LMTK2 MYH14 MYH9

Drugs & Therapeutics for Deafness, Autosomal Recessive 37

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

Search NIH Clinical Center for Deafness, Autosomal Recessive 37

Genetic Tests for Deafness, Autosomal Recessive 37

Genetic tests related to Deafness, Autosomal Recessive 37:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 37 29

Anatomical Context for Deafness, Autosomal Recessive 37

MalaCards organs/tissues related to Deafness, Autosomal Recessive 37:

39
Brain, Eye

Publications for Deafness, Autosomal Recessive 37

Variations for Deafness, Autosomal Recessive 37

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 37:

71
id Symbol AA change Variation ID SNP ID
1 MYO6 p.Glu216Val VAR_016209 rs28936390

ClinVar genetic disease variations for Deafness, Autosomal Recessive 37:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYO6 MYO6, 1-BP INS, 36T insertion Pathogenic
2 MYO6 NM_004999.3(MYO6): c.3496C> T (p.Arg1166Ter) single nucleotide variant Pathogenic rs121912558 GRCh37 Chromosome 6, 76623836: 76623836

Expression for Deafness, Autosomal Recessive 37

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 37.

Pathways for Deafness, Autosomal Recessive 37

GO Terms for Deafness, Autosomal Recessive 37

Cellular components related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.89 MYH9 MYO15A MYO3A MYO7A TRIOBP
2 lysosomal membrane GO:0005765 9.71 DAB2 MYO6 MYO7A
3 cell cortex GO:0005938 9.63 MYH9 MYO6 MYO7A
4 stress fiber GO:0001725 9.52 MYH14 MYH9
5 clathrin-coated vesicle membrane GO:0030665 9.51 DAB2 MYO6
6 microvillus GO:0005902 9.5 MYO1A MYO6 MYO7A
7 stereocilium GO:0032420 9.48 MYO15A MYO7A
8 actomyosin GO:0042641 9.43 MYH14 MYH9
9 brush border GO:0005903 9.43 MYH14 MYH9 MYO1A
10 myosin II complex GO:0016460 9.37 MYH14 MYH9
11 myosin complex GO:0016459 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
12 myosin II filament GO:0097513 9.16 MYH14 MYH9
13 filamentous actin GO:0031941 9.13 MYO1A MYO3A MYO6
14 cytoplasm GO:0005737 10.1 DAB2 MYH14 MYH9 MYO15A MYO1A MYO3A

Biological processes related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.62 DAB2 MYH9 MYO6 TOM1
2 intracellular protein transport GO:0006886 9.54 MYO6 MYO7A TOM1
3 endocytosis GO:0006897 9.33 DAB2 MYO6 TOM1
4 actomyosin structure organization GO:0031032 9.26 MYH14 MYH9
5 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A
6 sensory perception of sound GO:0007605 9.1 MYH14 MYO15A MYO1A MYO3A MYO6 MYO7A

Molecular functions related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.8 MYH14 MYH9 MYO1A MYO6 MYO7A TRIOBP
2 actin binding GO:0003779 9.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
3 nucleotide binding GO:0000166 9.76 MYH14 MYH9 MYO3A MYO7A
4 ADP binding GO:0043531 9.71 MYH9 MYO3A MYO6 MYO7A
5 microfilament motor activity GO:0000146 9.67 MYH14 MYH9 MYO3A MYO7A
6 calmodulin binding GO:0005516 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
7 actin-dependent ATPase activity GO:0030898 9.46 MYH14 MYH9 MYO3A MYO7A
8 motor activity GO:0003774 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
9 ATP binding GO:0005524 10.03 LMTK2 MYH14 MYH9 MYO15A MYO1A MYO3A

Sources for Deafness, Autosomal Recessive 37

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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