DFNB39
MCID: DFN120
MIFTS: 36

Deafness, Autosomal Recessive 39 (DFNB39)

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

Aliases & Classifications for Deafness, Autosomal Recessive 39

MalaCards integrated aliases for Deafness, Autosomal Recessive 39:

Name: Deafness, Autosomal Recessive 39 57 29 13 6 73
Dfnb39 57 12 75
Autosomal Recessive Nonsyndromic Deafness 39 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 39 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 39 75
Congenital Neurosensory Deafness Autosomal Recessive 39 75
Deafness, Autosomal Recessive, Type 39 40
Deafness, Autosomal Recessive, 39 75
Autosomal Recessive Deafness 39 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608265
Disease Ontology 12 DOID:0110497
ICD10 33 H90.3
MedGen 42 C1842342
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005
UMLS 73 C1842342

Summaries for Deafness, Autosomal Recessive 39

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 39: A form of profound prelingual 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 39, also known as dfnb39, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal recessive 97. An important gene associated with Deafness, Autosomal Recessive 39 is HGF (Hepatocyte Growth Factor), and among its related pathways/superpathways are Focal Adhesion and Pathways in cancer. Affiliated tissues include brain, lung and thyroid, and related phenotype is prelingual sensorineural hearing impairment.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has material basis in mutation in the HGF gene on chromosome 7q21.

Description from OMIM: 608265

Related Diseases for Deafness, Autosomal Recessive 39

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 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 39 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 10.1
2 deafness, autosomal recessive 97 9.9 HGF MET
3 endometrial squamous cell carcinoma 9.9 HGF MET
4 large cell medulloblastoma 9.9 HGF MET
5 doxorubicin induced cardiomyopathy 9.9 HGF MET
6 papillary thyroid microcarcinoma 9.9 HGF MET
7 familial renal papillary carcinoma 9.9 HGF MET
8 spindle cell synovial sarcoma 9.9 HGF MET
9 spinal chordoma 9.9 HGF MET
10 salivary gland carcinoma 9.8 HGF MET
11 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 HGF MET
12 cholangiocarcinoma 9.8 HGF MET
13 renal cell carcinoma, nonpapillary 9.8 HGF MET
14 large intestine cancer 9.8 HGF MET
15 lung cancer susceptibility 3 9.7 HGF MET

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 39:



Diseases related to Deafness, Autosomal Recessive 39

Symptoms & Phenotypes for Deafness, Autosomal Recessive 39

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, sensorineural, prelingual, profound
nonprogressive deafness


Clinical features from OMIM:

608265

Human phenotypes related to Deafness, Autosomal Recessive 39:

32
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 32 HP:0000399

Drugs & Therapeutics for Deafness, Autosomal Recessive 39

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 39

Genetic Tests for Deafness, Autosomal Recessive 39

Genetic tests related to Deafness, Autosomal Recessive 39:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 39 29 HGF

Anatomical Context for Deafness, Autosomal Recessive 39

MalaCards organs/tissues related to Deafness, Autosomal Recessive 39:

41
Brain, Lung, Thyroid, Salivary Gland

Publications for Deafness, Autosomal Recessive 39

Variations for Deafness, Autosomal Recessive 39

ClinVar genetic disease variations for Deafness, Autosomal Recessive 39:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HGF NM_000601.5(HGF): c.495G> A (p.Ser165=) single nucleotide variant Pathogenic rs137853235 GRCh37 Chromosome 7, 81381566: 81381566
2 HGF NM_000601.5(HGF): c.495G> A (p.Ser165=) single nucleotide variant Pathogenic rs137853235 GRCh38 Chromosome 7, 81752250: 81752250
3 HGF HGF, 3-BP DEL, 1986TGA deletion Pathogenic
4 HGF HGF, 10-BP DEL, NT482+1991 deletion Pathogenic
5 HGF NM_000601.5(HGF): c.1008G> A (p.Glu336=) single nucleotide variant Conflicting interpretations of pathogenicity rs148714837 GRCh37 Chromosome 7, 81358953: 81358953
6 HGF NM_000601.5(HGF): c.1008G> A (p.Glu336=) single nucleotide variant Conflicting interpretations of pathogenicity rs148714837 GRCh38 Chromosome 7, 81729637: 81729637
7 HGF NM_000601.5(HGF): c.1272-4A> G single nucleotide variant Benign/Likely benign rs1800793 GRCh37 Chromosome 7, 81346685: 81346685
8 HGF NM_000601.5(HGF): c.1272-4A> G single nucleotide variant Benign/Likely benign rs1800793 GRCh38 Chromosome 7, 81717369: 81717369
9 HGF NM_000601.5(HGF): c.983G> T (p.Arg328Leu) single nucleotide variant Uncertain significance rs374484762 GRCh37 Chromosome 7, 81358978: 81358978
10 HGF NM_000601.5(HGF): c.983G> T (p.Arg328Leu) single nucleotide variant Uncertain significance rs374484762 GRCh38 Chromosome 7, 81729662: 81729662

Expression for Deafness, Autosomal Recessive 39

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 39.

Pathways for Deafness, Autosomal Recessive 39

Pathways related to Deafness, Autosomal Recessive 39 according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 HGF MET
2 12.35 HGF MET
3
Show member pathways
12.29 HGF MET
4 12.28 HGF MET
5
Show member pathways
12.27 HGF MET
6
Show member pathways
12.24 HGF MET
7
Show member pathways
12.23 HGF MET
8
Show member pathways
12.21 HGF MET
9
Show member pathways
12.2 HGF MET
10
Show member pathways
11.99 HGF MET
11
Show member pathways
11.92 HGF MET
12
Show member pathways
11.88 HGF MET
13 11.83 HGF MET
14
Show member pathways
11.77 HGF MET
15 11.6 HGF MET
16
Show member pathways
11.58 HGF MET
17 11.58 HGF MET
18 11.58 HGF MET
19
Show member pathways
11.4 HGF MET
20 11.09 HGF MET
21 11.04 HGF MET
22
Show member pathways
10.94 HGF MET
23 10.89 HGF MET
24 10.86 HGF MET
25 10.69 HGF MET
26 10.54 HGF MET
27 10.43 HGF MET
28 9.85 HGF MET

GO Terms for Deafness, Autosomal Recessive 39

Biological processes related to Deafness, Autosomal Recessive 39 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.49 HGF MET
2 cell proliferation GO:0008283 9.48 HGF MET
3 MAPK cascade GO:0000165 9.46 HGF MET
4 peptidyl-tyrosine phosphorylation GO:0018108 9.43 HGF MET
5 positive regulation of protein kinase B signaling GO:0051897 9.4 HGF MET
6 phosphatidylinositol phosphorylation GO:0046854 9.37 HGF MET
7 liver development GO:0001889 9.32 HGF MET
8 positive chemotaxis GO:0050918 9.26 HGF MET
9 negative regulation of autophagy GO:0010507 9.16 HGF MET
10 hepatocyte growth factor receptor signaling pathway GO:0048012 8.96 HGF MET
11 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 8.62 HGF MET

Molecular functions related to Deafness, Autosomal Recessive 39 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.16 HGF MET
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.96 HGF MET
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.62 HGF MET

Sources for Deafness, Autosomal Recessive 39

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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