DFNB13
MCID: DFN164
MIFTS: 26

Deafness, Autosomal Recessive 13 (DFNB13)

Categories: Blood diseases, 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 56 13 71
Autosomal Recessive Nonsyndromic Deafness 13 12 15
Dfnb13 56 12
Autosomal Recessive Deafness 13 12

Characteristics:

OMIM:

56
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 56 603098
OMIM Phenotypic Series 56 PS220290
ICD10 32 H90.3
MedGen 41 C1864199
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 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 deafness, autosomal recessive and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 13 is DFNB13 (Deafness, Autosomal Recessive 13). Related phenotypes are sensorineural hearing impairment and behavior/neurological

More information from OMIM: 603098 PS220290

Related Diseases for Deafness, Autosomal Recessive 13

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
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 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 50)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 31.1 PJVK MYO3A GRXCR1 GIPC3 DFNB13
2 branchiootic syndrome 1 29.8 TMC1 PJVK GRXCR1 CDH23
3 sensorineural hearing loss 28.9 TMPRSS3 TMC1 GIPC3 CDH23
4 nonsyndromic hearing loss 28.4 TMPRSS3 TMC1 PJVK MYO3A CDH23
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
6 deafness, autosomal recessive 17 10.2
7 deafness, autosomal dominant 50 10.2
8 autosomal dominant non-syndromic sensorineural deafness type dfna 10.2
9 deafness, autosomal recessive 55 10.1 GRXCR1 CDH23
10 deafness, autosomal recessive 40 10.1 GRXCR1 CDH23
11 deafness, autosomal recessive 27 10.1 TMC1 PJVK
12 deafness, autosomal recessive 9 10.1 TMC1 PJVK
13 deafness, autosomal recessive 15 10.1 PJVK GIPC3
14 deafness, autosomal recessive 93 10.1 TMC1 PJVK
15 deafness, autosomal recessive 63 10.1 TMC1 PJVK
16 deafness, autosomal recessive 37 10.0 MYO3A GIPC3
17 deafness, autosomal dominant 22 10.0 MYO3A GIPC3
18 deafness, autosomal dominant 36 10.0 TMC1 CDH23
19 deafness, autosomal recessive 22 10.0 PJVK CDH23
20 deafness, autosomal dominant 20 10.0 TMC1 CDH23
21 usher syndrome, type ic 9.9 TMC1 CDH23
22 deafness, autosomal recessive 23 9.9 TMC1 CDH23
23 deafness, autosomal recessive 1a 9.9 TMC1 PJVK
24 usher syndrome, type id 9.9 TMC1 CDH23
25 deafness, autosomal dominant 11 9.8 MYO3A CDH23
26 deafness, autosomal recessive 79 9.8 TMC1 MYO3A GRXCR1
27 deafness, autosomal recessive 85 9.8 TMPRSS3 PJVK
28 deafness, autosomal recessive 12 9.8 TMC1 CDH23
29 deafness, autosomal recessive 7 9.8 TMC1 PJVK CDH23
30 autosomal recessive nonsyndromic deafness 36 9.7 MYO3A GRXCR1 CDH23
31 usher syndrome type 2 9.7 TMC1 CDH23
32 usher syndrome 9.7 TMC1 MYO3A CDH23
33 vestibular disease 9.6 TMPRSS3 CDH23
34 deafness, autosomal recessive 25 9.5 TMPRSS3 PJVK GRXCR1
35 deafness, autosomal recessive 35 9.5 TMPRSS3 PJVK GRXCR1
36 deafness, autosomal recessive 8 9.5 TMPRSS3 TMC1 PJVK
37 deafness, autosomal recessive 6 9.5 TMPRSS3 TMC1 PJVK
38 y-linked monogenic disease 9.5 TMPRSS3 TMC1 CDH23
39 deafness, autosomal recessive 83 9.4 TMPRSS3 PJVK CDH23
40 autosomal recessive nonsyndromic deafness 3 9.4 TMC1 PJVK MYO3A CDH23
41 deafness, autosomal recessive 2 9.4 TMC1 PJVK MYO3A CDH23
42 usher syndrome, type i 9.3 TMC1 PJVK MYO3A CDH23
43 otosclerosis 9.3 TMPRSS3 PJVK
44 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.1 TMPRSS3 TMC1 PJVK CDH23
45 deafness, autosomal recessive 77 9.0 TMPRSS3 PJVK MYO3A CDH23
46 auditory system disease 8.7 TMPRSS3 TMC1 PJVK MYO3A CDH23
47 autosomal dominant nonsyndromic deafness 8.5 TMPRSS3 TMC1 PJVK MYO3A GRXCR1 CDH23
48 autosomal recessive nonsyndromic deafness 8.5 TMPRSS3 TMC1 PJVK MYO3A GIPC3 CDH23
49 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.2 TMPRSS3 TMC1 PJVK MYO3A GRXCR1 GIPC3
50 rare genetic deafness 8.2 TMPRSS3 TMC1 PJVK MYO3A GRXCR1 GIPC3

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:

56
Head And Neck Ears:
hearing loss, prelingual, progressive (all frequencies affected)

Clinical features from OMIM:

603098

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 13:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CDH23 GIPC3 GRXCR1 MYO3A PJVK TMC1
2 hearing/vestibular/ear MP:0005377 9.5 CDH23 GIPC3 GRXCR1 MYO3A PJVK TMC1
3 nervous system MP:0003631 9.17 CDH23 GIPC3 GRXCR1 MYO3A PJVK TMC1

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. 61 56
15355440 2004
2
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36. 56 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 tip GO:0032426 8.96 TMC1 MYO3A
2 stereocilium GO:0032420 8.8 MYO3A GRXCR1 CDH23

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 PJVK MYO3A GRXCR1 CDH23
2 inner ear receptor cell stereocilium organization GO:0060122 8.96 GRXCR1 CDH23

Sources for Deafness, Autosomal Recessive 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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