DFNB97
MCID: DFN330
MIFTS: 34

Deafness, Autosomal Recessive 97 (DFNB97)

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

Aliases & Classifications for Deafness, Autosomal Recessive 97

MalaCards integrated aliases for Deafness, Autosomal Recessive 97:

Name: Deafness, Autosomal Recessive 97 57 29 6
Dfnb97 57 12 74
Autosomal Recessive Nonsyndromic Deafness 97 12 15
Deafness, Autosomal Recessive, Type 97 40
Deafness, Autosomal Recessive, 97 74
Autosomal Recessive Deafness 97 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
deafness, autosomal recessive 97:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110539
MeSH 44 D006319
ICD10 33 H90.3

Summaries for Deafness, Autosomal Recessive 97

UniProtKB/Swiss-Prot : 74 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 autosomal recessive non-syndromic sensorineural deafness type dfnb and branchiootic syndrome 1. 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 sensorineural hearing impairment and embryo

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

More information from OMIM: 616705 PS220290

Related Diseases for Deafness, Autosomal Recessive 97

Diseases in the Rare 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 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 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Familial Deafness

Diseases related to Deafness, Autosomal Recessive 97 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.0 MET HGF GJB2
2 branchiootic syndrome 1 10.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 deafness, autosomal recessive 26 9.9 MET GJB2
5 deafness, autosomal recessive 39 9.6 MET HGF
6 endometrial squamous cell carcinoma 9.6 MET HGF
7 large cell medulloblastoma 9.6 MET HGF
8 doxorubicin induced cardiomyopathy 9.6 MET HGF
9 familial renal papillary carcinoma 9.6 MET HGF
10 papillary thyroid microcarcinoma 9.5 MET HGF
11 spindle cell synovial sarcoma 9.5 MET HGF
12 spinal chordoma 9.5 MET HGF
13 salivary gland carcinoma 9.4 MET HGF
14 cholangiocarcinoma 9.4 MET HGF
15 renal cell carcinoma, nonpapillary 9.3 MET HGF
16 large intestine cancer 9.1 MET HGF

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

Human phenotypes related to Deafness, Autosomal Recessive 97:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 very rare (1%) HP:0000407

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 29 MET

Anatomical Context for Deafness, Autosomal Recessive 97

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

41
Brain

Publications for Deafness, Autosomal Recessive 97

Articles related to Deafness, Autosomal Recessive 97:

# Title Authors PMID Year
1
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. 38 8 71
25941349 2015
2
Hepatocyte Growth Factor-c-MET Signaling Mediates the Development of Nonsensory Structures of the Mammalian Cochlea and Hearing. 38
27488639 2016

Variations for Deafness, Autosomal Recessive 97

ClinVar genetic disease variations for Deafness, Autosomal Recessive 97:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MET NM_001127500.3(MET): c.2575T> G (p.Phe859Val) single nucleotide variant Pathogenic rs794728016 7:116403260-116403260 7:116763206-116763206
2 MET NM_001127500.3(MET): c.1669A> G (p.Thr557Ala) single nucleotide variant Uncertain significance rs374733251 7:116381047-116381047 7:116740993-116740993
3 MET NM_001127500.3(MET): c.1444G> A (p.Asp482Asn) single nucleotide variant Uncertain significance rs863224694 7:116380055-116380055 7:116740001-116740001
4 MET NM_001127500.3(MET): c.1174C> A (p.Pro392Thr) single nucleotide variant Uncertain significance rs886061943 7:116340312-116340312 7:116700258-116700258
5 MET NM_001127500.3(MET): c.762A> C (p.Glu254Asp) single nucleotide variant Uncertain significance 7:116339900-116339900 7:116699846-116699846
6 MET NM_001127500.3(MET): c.143C> G (p.Ala48Gly) single nucleotide variant Uncertain significance rs80256822 7:116339281-116339281 7:116699227-116699227
7 MET NM_001127500.3(MET): c.799G> A (p.Glu267Lys) single nucleotide variant Uncertain significance rs755954919 7:116339937-116339937 7:116699883-116699883
8 MET NM_001127500.3(MET): c.142G> A (p.Ala48Thr) single nucleotide variant Uncertain significance rs374050750 7:116339280-116339280 7:116699226-116699226
9 MET NM_001127500.3(MET): c.1157T> G (p.Leu386Arg) single nucleotide variant Uncertain significance rs1554379180 7:116340295-116340295 7:116700241-116700241
10 MET NM_001127500.3(MET): c.4088T> C (p.Ile1363Thr) single nucleotide variant Uncertain significance rs768188910 7:116436039-116436039 7:116795985-116795985
11 MET NM_001127500.3(MET): c.406G> A (p.Val136Ile) single nucleotide variant Uncertain significance rs199701987 7:116339544-116339544 7:116699490-116699490

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

74
# Symbol AA change Variation ID SNP ID
1 MET p.Phe841Val VAR_075757 rs794728016

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 MET HGF
2
Show member pathways
12 MET HGF
3 11.83 MET HGF
4 11.6 MET HGF
5 11.6 MET HGF
6 11.58 MET HGF
7
Show member pathways
11.4 MET HGF
8 11.09 MET HGF
9 11.04 MET HGF
10
Show member pathways
10.94 MET HGF
11 10.87 MET HGF
12 10.86 MET HGF
13 10.69 MET HGF
14 10.43 MET HGF
15 9.85 MET HGF

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 MET HGF
2 positive regulation of protein kinase B signaling GO:0051897 9.37 MET HGF
3 liver development GO:0001889 9.32 MET HGF
4 positive chemotaxis GO:0050918 9.26 MET HGF
5 negative regulation of autophagy GO:0010507 9.16 MET HGF
6 peptidyl-tyrosine phosphorylation GO:0018108 9.1 MET
7 hepatocyte growth factor receptor signaling pathway GO:0048012 8.96 MET HGF
8 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 8.62 MET HGF

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 8.8 MET HGF GJB2
2 protein tyrosine kinase activity GO:0004713 8.65 MET

Sources for Deafness, Autosomal Recessive 97

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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