DFNB15
MCID: DFN262
MIFTS: 36

Deafness, Autosomal Recessive 15 (DFNB15)

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

Aliases & Classifications for Deafness, Autosomal Recessive 15

MalaCards integrated aliases for Deafness, Autosomal Recessive 15:

Name: Deafness, Autosomal Recessive 15 56 29 13 6 71
Dfnb15 56 12 73
Dfnb72 56 12 73
Dfnb95 56 12 73
Autosomal Recessive Nonsyndromic Deafness 15 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15 73
Deafness, Autosomal Recessive 72; Dfnb72 56
Deafness, Autosomal Recessive 95; Dfnb95 56
Deafness, Autosomal Recessive, Type 15 39
Deafness, Autosomal Recessive, 15 73
Deafness, Autosomal Recessive 72 56
Deafness, Autosomal Recessive 95 56
Autosomal Recessive Deafness 15 12
Autosomal Recessive Deafness 72 12
Autosomal Recessive Deafness 95 12
Deafness Autosomal Recessive 72 73
Deafness Autosomal Recessive 95 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110470
OMIM 56 601869
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1866094
SNOMED-CT via HPO 68 258211005
UMLS 71 C1866094

Summaries for Deafness, Autosomal Recessive 15

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 15: 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 15, also known as dfnb15, is related to branchiootic syndrome 1 and deafness, autosomal recessive 68. An important gene associated with Deafness, Autosomal Recessive 15 is GIPC3 (GIPC PDZ Domain Containing Family Member 3), and among its related pathways/superpathways are RhoGDI Pathway and Neurotrophic factor-mediated Trk receptor signaling. Affiliated tissues include brain, and related phenotypes are prelingual sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the GIPC3 gene on chromosome 19p13.

OMIM : 56 This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by Charizopoulou et al., 2011). (601869)

Related Diseases for Deafness, Autosomal Recessive 15

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 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 30.1 PJVK ILDR1
2 deafness, autosomal recessive 68 30.0 ZNRF4 TMEM59 CEACAM16
3 autosomal recessive nonsyndromic deafness 29.9 PJVK MYO15A ILDR1 GIPC3
4 sensorineural hearing loss 29.3 MYO6 MYO15A ILDR1 GIPC3 CEACAM16
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.6 PJVK MYO6 MYO15A MSRB3 ILDR1 GIPC3
6 nonsyndromic deafness 28.4 PJVK MYO6 MYO15A MSRB3 ILDR1 GIPC3
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
8 deafness, autosomal recessive 13 10.3 PJVK GIPC3
9 perrault syndrome 3 10.3
10 perrault syndrome 10.3
11 deafness, autosomal recessive 2 10.3 PJVK MYO15A
12 deafness, autosomal recessive 8 10.2 PJVK MYO15A
13 deafness, autosomal recessive 83 10.2 PJVK MYO15A
14 deafness, autosomal recessive 7 10.2 PJVK MYO15A
15 non-syndromic genetic deafness 10.2 MYO15A CEACAM16
16 deafness, autosomal recessive 67 10.2 PJVK ILDR1
17 deafness, autosomal recessive 25 10.2 PJVK MYO15A
18 deafness, autosomal recessive 63 10.2 PJVK MYO15A
19 deafness, autosomal recessive 79 10.1 MYO15A CEACAM16
20 deafness, autosomal recessive 35 10.1 PJVK MYO15A
21 age-related hearing loss 10.1
22 deafness, autosomal recessive 30 10.1 PJVK MYO15A
23 deafness, autosomal dominant 48 10.1 MYO6 MYO15A
24 deafness, autosomal recessive 9 10.1 PJVK MYO15A
25 deafness, autosomal recessive 24 10.1 PJVK ILDR1
26 deafness, autosomal recessive 29 10.0 MYO15A ILDR1
27 usher syndrome, type id 10.0 PJVK MYO15A
28 deafness, autosomal recessive 21 10.0 PJVK MYO15A CEACAM16
29 deafness, autosomal recessive 22 10.0 PJVK MYO15A CEACAM16
30 deafness, autosomal recessive 49 9.9 PJVK MYO15A ILDR1
31 deafness, autosomal recessive 12 9.9 MYO15A CEACAM16
32 autosomal recessive nonsyndromic deafness 3 9.9 PJVK MYO6 MYO15A
33 deafness, autosomal recessive 42 9.8 PJVK MSRB3 ILDR1
34 rare genetic deafness 9.7 PJVK MYO6 MYO15A GIPC3
35 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 MYO6 CEACAM16
36 autosomal dominant nonsyndromic deafness 9.6 PJVK MYO6 MYO15A CEACAM16
37 auditory system disease 9.6 PJVK MYO6 MYO15A ILDR1
38 deafness, autosomal recessive 9.3 PJVK MYO6 MSRB3 ILDR1 GIPC3
39 deafness, autosomal recessive 37 9.3 RGS19 MYO6 MYO15A GIPC3 GIPC1
40 deafness, autosomal dominant 22 9.3 RGS19 MYO6 MYO15A GIPC3 GIPC1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 15:



Diseases related to Deafness, Autosomal Recessive 15

Symptoms & Phenotypes for Deafness, Autosomal Recessive 15

Human phenotypes related to Deafness, Autosomal Recessive 15:

31
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 31 very rare (1%) HP:0000399

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, moderate to severe, bilateral, nonprogressive

Clinical features from OMIM:

601869

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 15:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 CEACAM16 GIPC3 ILDR1 MSRB3 MYO15A MYO6

Drugs & Therapeutics for Deafness, Autosomal Recessive 15

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 15

Genetic Tests for Deafness, Autosomal Recessive 15

Genetic tests related to Deafness, Autosomal Recessive 15:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 15 29 GIPC3

Anatomical Context for Deafness, Autosomal Recessive 15

MalaCards organs/tissues related to Deafness, Autosomal Recessive 15:

40
Brain

Publications for Deafness, Autosomal Recessive 15

Articles related to Deafness, Autosomal Recessive 15:

(show all 11)
# Title Authors PMID Year
1
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. 61 56 6
21326233 2011
2
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 56 6
21660509 2011
3
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 56 6
17690910 2007
4
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. 56 6
9286457 1997
5
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. 56
10364543 1999
6
Nonsyndromic hearing impairment: unparalleled heterogeneity. 56
9106521 1997
7
A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family. 61
25296581 2014
8
[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15]. 61
18066515 2008
9
MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. 61
11493199 2001
10
A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus. 61
11313754 2001
11
DFNB15: autosomal recessive non-syndromic hearing loss gene-chromosome 3q, 19p or digenic recessive inheritance? 61
10868231 2000

Variations for Deafness, Autosomal Recessive 15

ClinVar genetic disease variations for Deafness, Autosomal Recessive 15:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GIPC3 NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg)SNV Pathogenic 30753 rs387906999 19:3589908-3589908 19:3589910-3589910
2 GIPC3 NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter)SNV Pathogenic 30754 rs387907000 19:3590152-3590152 19:3590154-3590154
3 GIPC3 NM_133261.3(GIPC3):c.685dup (p.Ala229fs)duplication Pathogenic 30755 19:3589526-3589527 19:3589528-3589529
4 GIPC3 NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp)SNV Pathogenic 30756 rs387907001 19:3589890-3589890 19:3589892-3589892
5 GIPC3 NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg)SNV Pathogenic 30757 19:3585731-3585731 19:3585733-3585733
6 GIPC3 NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys)SNV Pathogenic 30758 rs387907002 19:3586965-3586965 19:3586967-3586967
7 GIPC3 NM_133261.3(GIPC3):c.724G>T (p.Glu242Ter)SNV Pathogenic 627446 rs1568278651 19:3589847-3589847 19:3589849-3589849
8 GIPC3 NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln)SNV Likely pathogenic 617628 rs1466835034 19:3590186-3590186 19:3590188-3590188
9 GIPC3 NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr)SNV Uncertain significance 517596 rs904746365 19:3586945-3586945 19:3586947-3586947

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 15:

73
# Symbol AA change Variation ID SNP ID
1 GIPC3 p.Gly46Arg VAR_065967 rs946085339
2 GIPC3 p.Met88Ile VAR_065968 rs121465271
3 GIPC3 p.Gly94Asp VAR_065969 rs763523474
4 GIPC3 p.Arg189Cys VAR_065970 rs387907002
5 GIPC3 p.Thr221Ile VAR_065971 rs761543680
6 GIPC3 p.Gly256Asp VAR_065972 rs387907001
7 GIPC3 p.Leu262Arg VAR_065973 rs387906999

Expression for Deafness, Autosomal Recessive 15

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 15.

Pathways for Deafness, Autosomal Recessive 15

Pathways related to Deafness, Autosomal Recessive 15 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.51 MYO6 MYO1F MYO15A
2
Show member pathways
10.94 RGS19 GIPC1
3 10.34 MYO6 MYO1F MYO15A

GO Terms for Deafness, Autosomal Recessive 15

Cellular components related to Deafness, Autosomal Recessive 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.43 ZNRF4 TMEM59 MYO6
2 clathrin-coated vesicle GO:0030136 9.37 RGS19 MYO6
3 brush border GO:0005903 9.32 RGS19 GIPC1
4 endocytic vesicle GO:0030139 9.16 MYO6 GIPC1
5 unconventional myosin complex GO:0016461 8.96 MYO6 MYO1F
6 myosin complex GO:0016459 8.8 MYO6 MYO1F MYO15A

Biological processes related to Deafness, Autosomal Recessive 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.92 PJVK MYO6 MYO15A CEACAM16

Molecular functions related to Deafness, Autosomal Recessive 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.33 MYO6 MYO1F MYO15A
2 motor activity GO:0003774 9.13 MYO6 MYO1F MYO15A
3 actin binding GO:0003779 8.92 MYO6 MYO1F MYO15A GIPC1

Sources for Deafness, Autosomal Recessive 15

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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