MCID: DFN330
MIFTS: 35

Deafness, Autosomal Recessive 97

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

Aliases & Classifications for Deafness, Autosomal Recessive 97

MalaCards integrated aliases for Deafness, Autosomal Recessive 97:

Name: Deafness, Autosomal Recessive 97 53 28
Dfnb97 53 12 71
Autosomal Recessive Nonsyndromic Deafness 97 12 14
Deafness, Autosomal Recessive, 97 71
Autosomal Recessive Deafness 97 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 family (last curated december 2015)


HPO:

31
deafness, autosomal recessive 97:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 616705
Disease Ontology 12 DOID:0110539
ICD10 32 H90.3
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005

Summaries for Deafness, Autosomal Recessive 97

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 97: A form of non-syndromic sensorineural hearing loss with prelingual onset. 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 97, also known as dfnb97, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal recessive 39. An important gene associated with Deafness, Autosomal Recessive 97 is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are ErbB signaling pathway and MET promotes cell motility. Affiliated tissues include brain, and related phenotypes are embryo and no phenotypic analysis

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the MET gene on chromosome 7q31.

Description from OMIM: 616705

Related Diseases for Deafness, Autosomal Recessive 97

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
2 deafness, autosomal recessive 39 9.7 HGF MET
3 endometrial squamous cell carcinoma 9.7 HGF MET
4 large cell medulloblastoma 9.7 HGF MET
5 doxorubicin induced cardiomyopathy 9.7 HGF MET
6 papillary thyroid microcarcinoma 9.7 HGF MET
7 familial renal papillary carcinoma 9.7 HGF MET
8 spinal chordoma 9.6 HGF MET
9 spindle cell synovial sarcoma 9.6 HGF MET
10 vitreoretinopathy, neovascular inflammatory 9.6 HGF MET
11 hepatoblastoma 9.6 HGF MET
12 cholangiocarcinoma 9.5 HGF MET
13 lung cancer susceptibility 3 9.4 HGF MET
14 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.3 GJB2 HGF MET
15 renal cell carcinoma, nonpapillary 9.3 HGF MET

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 97:



Diseases related to Deafness, Autosomal Recessive 97

Symptoms & Phenotypes for Deafness, Autosomal Recessive 97

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, prelingual severe
intrafamilial variation in thresholds


Clinical features from OMIM:

616705

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 97:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.13 GJB2 HGF MET
2 no phenotypic analysis MP:0003012 8.8 GJB2 HGF MET

Drugs & Therapeutics for Deafness, Autosomal Recessive 97

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 97

Genetic Tests for Deafness, Autosomal Recessive 97

Genetic tests related to Deafness, Autosomal Recessive 97:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 97 28 MET

Anatomical Context for Deafness, Autosomal Recessive 97

MalaCards organs/tissues related to Deafness, Autosomal Recessive 97:

38
Brain

Publications for Deafness, Autosomal Recessive 97

Articles related to Deafness, Autosomal Recessive 97:

# Title Authors Year
1
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. ( 25941349 )
2015

Variations for Deafness, Autosomal Recessive 97

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 97:

71
# Symbol AA change Variation ID SNP ID
1 MET p.Phe841Val VAR_075757 rs794728016

ClinVar genetic disease variations for Deafness, Autosomal Recessive 97:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MET NM_000245.3(MET): c.2521T> G (p.Phe841Val) single nucleotide variant Pathogenic rs794728016 GRCh38 Chromosome 7, 116763206: 116763206

Expression for Deafness, Autosomal Recessive 97

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 97.

Pathways for Deafness, Autosomal Recessive 97

Pathways related to Deafness, Autosomal Recessive 97 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.99 HGF MET
2
Show member pathways
11.87 HGF MET
3 11.82 HGF MET
4 11.6 HGF MET
5 11.58 HGF MET
6
Show member pathways
11.4 HGF MET
7 11.09 HGF MET
8 11.04 HGF MET
9
Show member pathways
10.94 HGF MET
10 10.87 HGF MET
11 10.86 HGF MET
12 10.69 HGF MET
13 10.43 HGF MET
14 9.85 HGF MET

GO Terms for Deafness, Autosomal Recessive 97

Biological processes related to Deafness, Autosomal Recessive 97 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.43 HGF MET
2 peptidyl-tyrosine phosphorylation GO:0018108 9.4 HGF MET
3 positive regulation of protein kinase B signaling GO:0051897 9.37 HGF MET
4 phosphatidylinositol phosphorylation GO:0046854 9.32 HGF MET
5 negative regulation of autophagy GO:0010507 9.26 HGF MET
6 positive chemotaxis GO:0050918 9.16 HGF MET
7 hepatocyte growth factor receptor signaling pathway GO:0048012 8.96 HGF MET
8 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 8.62 HGF MET

Molecular functions related to Deafness, Autosomal Recessive 97 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.33 GJB2 HGF MET
2 protein tyrosine kinase activity GO:0004713 9.26 HGF MET
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.96 HGF MET
4 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.62 HGF MET

Sources for Deafness, Autosomal Recessive 97

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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