DFNB13
MCID: DFN164
MIFTS: 24

Deafness, Autosomal Recessive 13 (DFNB13)

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

Aliases & Classifications for Deafness, Autosomal Recessive 13

MalaCards integrated aliases for Deafness, Autosomal Recessive 13:

Name: Deafness, Autosomal Recessive 13 57 13 70
Autosomal Recessive Nonsyndromic Deafness 13 12 15
Dfnb13 57 12
Autosomal Recessive Deafness 13 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 large consanguineous lebanese family and 2 consanguineous tunisian families (last curated april 2005)


HPO:

31
deafness, autosomal recessive 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110468
OMIM® 57 603098
OMIM Phenotypic Series 57 PS220290
ICD10 32 H90.3
MedGen 41 C1864199
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1864199

Summaries for Deafness, Autosomal Recessive 13

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.

MalaCards based summary : Deafness, Autosomal Recessive 13, also known as autosomal recessive nonsyndromic deafness 13, is related to branchiootic syndrome 1 and deafness, autosomal recessive. An important gene associated with Deafness, Autosomal Recessive 13 is DFNB13 (Deafness, Autosomal Recessive 13). Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

More information from OMIM: 603098 PS220290

Related Diseases for Deafness, Autosomal Recessive 13

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 30.1 TMC1 PJVK GRXCR1
2 deafness, autosomal recessive 29.9 TMPRSS3 TMC1 PJVK MYO3A GRXCR1 GIPC3
3 autosomal dominant non-syndromic sensorineural deafness type dfna 29.2 TMC1 GRXCR1 GIPC3
4 nonsyndromic hearing loss 29.1 TMPRSS3 TMC1 PJVK MYO3A
5 sensorineural hearing loss 28.5 TMPRSS3 TMC1 SERPINB6 MYO3A GIPC3
6 deafness, autosomal recessive 7 10.1 TMC1 PJVK
7 deafness, autosomal recessive 27 10.1 TMC1 PJVK
8 autosomal recessive nonsyndromic deafness 36 10.1 MYO3A GRXCR1
9 deafness, autosomal recessive 15 10.1 PJVK GIPC3
10 auditory neuropathy, autosomal dominant, 1 10.1 PJVK GRXCR1
11 deafness, autosomal recessive 37 10.0 MYO3A GIPC3
12 y-linked monogenic disease 10.0 TMPRSS3 TMC1
13 deafness, autosomal recessive 79 10.0 TMC1 MYO3A
14 deafness, autosomal dominant 22 10.0 MYO3A GIPC3
15 deafness, autosomal recessive 21 10.0 TMC1 PJVK
16 deafness, autosomal recessive 83 10.0 TMPRSS3 PJVK
17 deafness, autosomal recessive 63 10.0 TMC1 PJVK
18 deafness, autosomal recessive 1a 10.0 TMC1 PJVK
19 usher syndrome, type id 9.9 TMC1 MYO3A
20 deafness, autosomal recessive 17 9.9
21 deafness, autosomal dominant 50 9.9
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
23 usher syndrome, type iia 9.9 TMPRSS3 TMC1
24 deafness, autosomal recessive 25 9.9 TMPRSS3 PJVK GRXCR1
25 deafness, autosomal recessive 35 9.8 TMPRSS3 PJVK GRXCR1
26 otosclerosis 9.8 TMPRSS3 PJVK
27 autosomal recessive nonsyndromic deafness 3 9.8 TMC1 PJVK MYO3A
28 deafness, autosomal recessive 2 9.8 TMC1 PJVK MYO3A
29 deafness, autosomal recessive 8 9.8 TMPRSS3 TMC1 PJVK
30 deafness, autosomal recessive 9 9.8 TMPRSS3 TMC1 PJVK
31 usher syndrome type 2 9.8 TMPRSS3 TMC1
32 deafness, autosomal recessive 12 9.8 TMPRSS3 TMC1 PJVK
33 deafness, autosomal recessive 77 9.8 TMPRSS3 PJVK MYO3A
34 usher syndrome, type i 9.7 TMC1 PJVK MYO3A
35 autosomal recessive nonsyndromic deafness 9.6 TMPRSS3 TMC1 MYO3A GIPC3
36 auditory system disease 9.5 TMPRSS3 TMC1 PJVK MYO3A
37 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 TMPRSS3 TMC1 PJVK MYO3A
38 usher syndrome 9.5 TMPRSS3 TMC1 PJVK MYO3A
39 autosomal dominant nonsyndromic deafness 9.4 TMPRSS3 TMC1 PJVK MYO3A GRXCR1
40 rare genetic deafness 9.2 TMPRSS3 TMC1 PJVK MYO3A GRXCR1 GIPC3
41 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.7 TMPRSS3 TMC1 SERPINB6 PJVK MYO3A GRXCR1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 13:



Diseases related to Deafness, Autosomal Recessive 13

Symptoms & Phenotypes for Deafness, Autosomal Recessive 13

Human phenotypes related to Deafness, Autosomal Recessive 13:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, prelingual, progressive (all frequencies affected)

Clinical features from OMIM®:

603098 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.1 GIPC3 GRXCR1 MYO3A PJVK TMC1 TMPRSS3

Drugs & Therapeutics for Deafness, Autosomal Recessive 13

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 13

Genetic Tests for Deafness, Autosomal Recessive 13

Anatomical Context for Deafness, Autosomal Recessive 13

Publications for Deafness, Autosomal Recessive 13

Articles related to Deafness, Autosomal Recessive 13:

# Title Authors PMID Year
1
Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers. 57 61
15355440 2004
2
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36. 57 61
9781028 1998
3
Characterisation of DRASIC in the mouse inner ear. 61
15051137 2004
4
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci. 61
14757864 2004
5
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 61
12529709 2003

Variations for Deafness, Autosomal Recessive 13

Expression for Deafness, Autosomal Recessive 13

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 13.

Pathways for Deafness, Autosomal Recessive 13

GO Terms for Deafness, Autosomal Recessive 13

Cellular components related to Deafness, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.96 MYO3A GRXCR1
2 stereocilium tip GO:0032426 8.62 TMC1 MYO3A

Biological processes related to Deafness, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.1 TMPRSS3 TMC1 SERPINB6 PJVK MYO3A GRXCR1
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.96 TMC1 PJVK

Sources for Deafness, Autosomal Recessive 13

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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