DFNB39
MCID: DFN120
MIFTS: 31

Deafness, Autosomal Recessive 39 (DFNB39)

Categories: 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 70
Dfnb39 57 12 72
Autosomal Recessive Nonsyndromic Deafness 39 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 39 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 39 72
Congenital Neurosensory Deafness Autosomal Recessive 39 72
Deafness, Autosomal Recessive, Type 39 39
Deafness, Autosomal Recessive, 39 72
Autosomal Recessive Deafness 39 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110497
OMIM® 57 608265
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1842342
SNOMED-CT via HPO 68 258211005
UMLS 70 C1842342

Summaries for Deafness, Autosomal Recessive 39

UniProtKB/Swiss-Prot : 72 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 nonsyndromic deafness and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 39 is HGF (Hepatocyte Growth Factor). Related phenotypes are prelingual sensorineural hearing impairment and hearing/vestibular/ear

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.

More information from OMIM: 608265 PS220290

Related Diseases for Deafness, Autosomal Recessive 39

Diseases in the Rare Deafness family:

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 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80 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 Autosomal Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79 Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74 Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76 Autosomal Dominant Nonsyndromic Deafness 77
Nonsyndromic Deafness Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 39 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 29.7 TRIOBP TMPRSS3 GJB2
2 branchiootic syndrome 1 29.4 PTPRQ LOXHD1 GJB2
3 nonsyndromic hearing loss 28.8 TRIOBP TMPRSS3 LOXHD1 HGF GJB2
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 27.0 TRIOBP TMPRSS3 STRC PTPRQ OTOA LOXHD1
5 y-linked monogenic disease 10.2 TMPRSS3 STRC
6 deafness, autosomal recessive 83 10.1 TMPRSS3 OTOA
7 deafness, autosomal recessive 6 10.1 TRIOBP OTOA
8 deafness, autosomal recessive 1b 10.1 STRC GJB2
9 deafness, autosomal dominant 3b 10.1 OTOA GJB2
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
11 deafness, autosomal recessive 91 10.1 OTOA GJB2
12 deafness, autosomal dominant 51 10.0 OTOA CLDN14
13 deafness, autosomal recessive 25 10.0 TRIOBP TMPRSS3
14 deafness, autosomal dominant 12 10.0 STRC OTOA
15 deafness, autosomal recessive 93 10.0 TRIOBP GJB2
16 deafness, autosomal dominant 2b 10.0 TRIOBP GJB2
17 deafness, autosomal recessive 28 10.0 TRIOBP OTOA
18 deafness, autosomal recessive 21 10.0 OTOA GJB2
19 deafness, autosomal recessive 49 10.0 GJB2 CLDN14
20 deafness, autosomal recessive 29 10.0 GJB2 CLDN14
21 deafness, autosomal recessive 98 9.9 TMPRSS3 CLDN14
22 vestibular disease 9.9 TMPRSS3 STRC GJB2
23 deafness, x-linked 2 9.9 STRC GJB2
24 deafness, autosomal recessive 42 9.9 PTPRQ CLDN14
25 deafness, autosomal recessive 37 9.9 TRIOBP PTPRQ
26 deafness, autosomal recessive 23 9.9 PTPRQ GJB2
27 deafness, autosomal recessive 35 9.9 TRIOBP TMPRSS3 OTOA
28 hereditary hearing loss and deafness 9.9 GJB2 CLDN14
29 deafness, autosomal dominant 22 9.9 TRIOBP PTPRQ
30 erythrokeratodermia variabilis et progressiva 1 9.8 OTOA GJB2
31 deafness, autosomal recessive 9 9.8 TRIOBP TMPRSS3 GJB2
32 deafness, autosomal recessive 66 9.8 STRC PTPRQ OTOA
33 usher syndrome, type id 9.8 STRC PTPRQ GJB2
34 deafness, autosomal recessive 61 9.7 TRIOBP PTPRQ OTOA
35 usher syndrome, type iia 9.7 TMPRSS3 STRC OTOA GJB2
36 deafness, autosomal dominant 1, with or without thrombocytopenia 9.7 TRIOBP PTPRQ GJB2
37 deafness, autosomal recessive 77 9.7 TMPRSS3 LOXHD1 GJB2
38 deafness, autosomal recessive 8 9.7 TMPRSS3 LOXHD1 GJB2
39 non-syndromic genetic deafness 9.7 TRIOBP GJB2
40 deafness, autosomal recessive 1a 9.7 STRC OTOA GJB2 CLDN14
41 deafness, autosomal recessive 16 9.6 STRC PTPRQ OTOA GJB2
42 deafness, autosomal recessive 22 9.6 TRIOBP STRC PTPRQ OTOA
43 usher syndrome, type i 9.5 TRIOBP STRC PTPRQ GJB2
44 usher syndrome type 2 9.4 TMPRSS3 STRC PTPRQ OTOA GJB2
45 rare genetic deafness 9.3 TMPRSS3 STRC OTOA LOXHD1 GJB2
46 deafness, autosomal recessive 12 9.1 TRIOBP TMPRSS3 STRC PTPRQ OTOA GJB2
47 usher syndrome 9.1 TRIOBP TMPRSS3 STRC PTPRQ OTOA GJB2
48 autosomal dominant non-syndromic sensorineural deafness type dfna 9.1 STRC PTPRQ LOXHD1 GJB2 CLDN14
49 auditory system disease 9.0 TRIOBP TMPRSS3 STRC OTOA LOXHD1 GJB2
50 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.0 TRIOBP TMPRSS3 STRC OTOA LOXHD1 GJB2

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

Human phenotypes related to Deafness, Autosomal Recessive 39:

31
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 31 HP:0000399

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
deafness, sensorineural, prelingual, profound
nonprogressive deafness

Clinical features from OMIM®:

608265 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 39:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 CLDN14 GJB2 GRXCR2 HGF OTOA PTPRQ
2 nervous system MP:0003631 9.28 CLDN14 GJB2 GRXCR2 HGF OTOA PTPRQ

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

Publications for Deafness, Autosomal Recessive 39

Articles related to Deafness, Autosomal Recessive 39:

# Title Authors PMID Year
1
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. 61 57 6
19576567 2009
2
DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12. 57 61
14512973 2003
3
Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39. 61
32152201 2020
4
Hepatocyte Growth Factor-c-MET Signaling Mediates the Development of Nonsensory Structures of the Mammalian Cochlea and Hearing. 61
27488639 2016

Variations for Deafness, Autosomal Recessive 39

ClinVar genetic disease variations for Deafness, Autosomal Recessive 39:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HGF NM_000601.6(HGF):c.495G>A (p.Ser165=) SNV Pathogenic 14949 rs137853235 GRCh37: 7:81381566-81381566
GRCh38: 7:81752250-81752250
2 HGF HGF, 3-BP DEL, 1986TGA Deletion Pathogenic 14950 GRCh37:
GRCh38:
3 HGF HGF, 10-BP DEL, NT482+1991 Deletion Pathogenic 14951 GRCh37:
GRCh38:
4 HGF NM_000601.6(HGF):c.865+410dup Duplication Pathogenic 163661 rs534250947 GRCh37: 7:81372257-81372258
GRCh38: 7:81742941-81742942
5 HGF NM_000601.6(HGF):c.983G>T (p.Arg328Leu) SNV Uncertain significance 163660 rs374484762 GRCh37: 7:81358978-81358978
GRCh38: 7:81729662-81729662
6 HGF NM_000601.6(HGF):c.1008G>A (p.Glu336=) SNV Likely benign 43606 rs148714837 GRCh37: 7:81358953-81358953
GRCh38: 7:81729637-81729637
7 HGF NM_000601.6(HGF):c.1272-4A>G SNV Benign 43607 rs1800793 GRCh37: 7:81346685-81346685
GRCh38: 7:81717369-81717369
8 HGF NM_000601.6(HGF):c.1891G>A (p.Val631Met) SNV Benign 178380 rs145494248 GRCh37: 7:81334825-81334825
GRCh38: 7:81705509-81705509

Expression for Deafness, Autosomal Recessive 39

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

Pathways for Deafness, Autosomal Recessive 39

GO Terms for Deafness, Autosomal Recessive 39

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

# Name GO ID Score Top Affiliating Genes
1 stereocilium base GO:0120044 8.96 TRIOBP GRXCR2
2 stereocilium GO:0032420 8.8 STRC LOXHD1 GRXCR2

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.17 TRIOBP TMPRSS3 STRC OTOA LOXHD1 GRXCR2
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 STRC PTPRQ
3 auditory receptor cell stereocilium organization GO:0060088 9.13 TRIOBP STRC GRXCR2

Sources for Deafness, Autosomal Recessive 39

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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