MCID: DFN197
MIFTS: 41

Deafness, Autosomal Recessive 37

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

Aliases & Classifications for Deafness, Autosomal Recessive 37

MalaCards integrated aliases for Deafness, Autosomal Recessive 37:

Name: Deafness, Autosomal Recessive 37 53 28 13 69
Dfnb37 53 12 71
Autosomal Recessive Nonsyndromic Deafness 37 12 14
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:

53
Inheritance:
autosomal recessive

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


HPO:

31
deafness, autosomal recessive 37:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 607821
Disease Ontology 12 DOID:0110495
ICD10 32 H90.3
MedGen 39 C1843028
MeSH 41 D006319
UMLS 69 C1843028

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 dfnb37, is related to deafness, autosomal dominant 1 and deafness, autosomal recessive 3, and has symptoms including congenital stationary night blindness, rod-cone dystrophy and vestibular dysfunction. An important gene associated with Deafness, Autosomal Recessive 37 is MYO6 (Myosin VI), and among its related pathways/superpathways are ERK Signaling and PAK 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 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 37 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1 10.2 MYO1A MYO3A
2 deafness, autosomal recessive 3 10.0 MYO15A MYO7A
3 non-syndromic genetic deafness 10.0 MYO15A MYO6 TRIOBP
4 deafness, autosomal recessive 85 10.0 MYO15A MYO7A
5 autosomal recessive nonsyndromic deafness 10.0 MYO15A TRIOBP
6 deafness, autosomal recessive 83 9.9 MYO15A MYO7A
7 branchiootic syndrome 1 9.9
8 deafness, autosomal dominant 6 9.9 MYH14 MYO7A
9 deafness, autosomal dominant 11 9.7 MYO15A MYO1A MYO6 MYO7A
10 deafness, autosomal recessive 2 9.6 MYO15A MYO1A MYO6 MYO7A
11 auditory system disease 9.6 MYH9 MYO15A MYO7A
12 inner ear disease 9.5 MYH9 MYO7A
13 sensorineural hearing loss 9.4 MYH9 MYO15A MYO6 MYO7A
14 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 MYH14 MYH9 MYO1A MYO6 MYO7A
15 autosomal dominant nonsyndromic deafness 9.2 MYH14 MYH9 MYO1A MYO6 MYO7A
16 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.9 MYH9 MYO15A MYO3A MYO6 MYO7A TRIOBP
17 deafness, autosomal dominant 17 8.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
18 deafness, autosomal recessive 30 8.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
19 deafness, autosomal dominant 48 8.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
20 autosomal recessive nonsyndromic deafness 3 8.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
21 nonsyndromic deafness 8.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
22 deafness, autosomal dominant 22 7.4 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:

53
Head And Neck Ears:
hearing loss, sensorineural, bilateral (severe to profound)
vestibular dysfunction (in 2 patients)

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


Clinical features from OMIM:

607821

Human phenotypes related to Deafness, Autosomal Recessive 37:

31
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 31 occasional (7.5%) HP:0007642
2 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
3 vestibular dysfunction 31 very rare (1%) HP:0001751
4 bilateral sensorineural hearing impairment 31 HP:0008619

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

25
# 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:

43
# 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 LMTK2 MYH14 MYH9 MYO15A MYO3A MYO6

Drugs & Therapeutics for Deafness, Autosomal Recessive 37

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 37

Genetic Tests for Deafness, Autosomal Recessive 37

Genetic tests related to Deafness, Autosomal Recessive 37:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 37 28 MYO6

Anatomical Context for Deafness, Autosomal Recessive 37

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

38
Brain, Eye

Publications for Deafness, Autosomal Recessive 37

Articles related to Deafness, Autosomal Recessive 37:

# Title Authors Year
1
Mutations of MYO6 are associated with recessive deafness, DFNB37. ( 12687499 )
2003

Variations for Deafness, Autosomal Recessive 37

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

71
# Symbol AA change Variation ID SNP ID
1 MYO6 p.Glu216Val VAR_016209 rs121912559

ClinVar genetic disease variations for Deafness, Autosomal Recessive 37:

6
# 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)
# 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 9.65 MYH9 MYO6 MYO7A
4 microvillus GO:0005902 9.54 MYO1A MYO6 MYO7A
5 stress fiber GO:0001725 9.52 MYH14 MYH9
6 clathrin-coated vesicle membrane GO:0030665 9.51 DAB2 MYO6
7 brush border GO:0005903 9.5 MYH14 MYH9 MYO1A
8 actomyosin GO:0042641 9.46 MYH14 MYH9
9 myosin II complex GO:0016460 9.4 MYH14 MYH9
10 stereocilium GO:0032420 9.33 MYO15A MYO3A MYO7A
11 myosin II filament GO:0097513 9.26 MYH14 MYH9
12 myosin complex GO:0016459 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
13 filamentous actin GO:0031941 9.13 MYO1A MYO3A MYO6
14 cytoplasm GO:0005737 10.13 DAB2 MYH14 MYH9 MYO15A MYO1A MYO3A

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

# 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:

# 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
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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