MCID: DFN262
MIFTS: 26

Deafness, Autosomal Recessive 15

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

Aliases & Classifications for Deafness, Autosomal Recessive 15

MalaCards integrated aliases for Deafness, Autosomal Recessive 15:

Name: Deafness, Autosomal Recessive 15 57 29 13 6 73
Dfnb15 57 12 75
Dfnb72 57 12 75
Dfnb95 57 12 75
Autosomal Recessive Nonsyndromic Deafness 15 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15 75
Deafness, Autosomal Recessive 72; Dfnb72 57
Deafness, Autosomal Recessive 95; Dfnb95 57
Deafness, Autosomal Recessive, Type 15 40
Deafness, Autosomal Recessive, 15 75
Deafness, Autosomal Recessive 72 57
Deafness, Autosomal Recessive 95 57
Autosomal Recessive Deafness 15 12
Autosomal Recessive Deafness 72 12
Autosomal Recessive Deafness 95 12
Deafness Autosomal Recessive 72 75
Deafness Autosomal Recessive 95 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness, autosomal recessive 15:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 57 601869
Disease Ontology 12 DOID:0110470
ICD10 33 H90.3
MedGen 42 C1866094
MeSH 44 D006319
UMLS 73 C1866094

Summaries for Deafness, Autosomal Recessive 15

UniProtKB/Swiss-Prot : 75 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 nonsyndromic deafness and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Recessive 15 is GIPC3 (GIPC PDZ Domain Containing Family Member 3). Affiliated tissues include brain, and related phenotypes are hearing impairment and cellular

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

OMIM : 57 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 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 32 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 Recessive 105 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 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

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

# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 10.0
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
3 deafness, autosomal recessive 68 9.4 PTPRS ZNRF4

Symptoms & Phenotypes for Deafness, Autosomal Recessive 15

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, moderate to severe, bilateral, nonprogressive


Clinical features from OMIM:

601869

Human phenotypes related to Deafness, Autosomal Recessive 15:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 15:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.02 CLPP CNBP MYO1F PTPRS SNCA

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:

41
Brain

Publications for Deafness, Autosomal Recessive 15

Variations for Deafness, Autosomal Recessive 15

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

75
# Symbol AA change Variation ID SNP ID
1 GIPC3 p.Gly46Arg VAR_065967
2 GIPC3 p.Met88Ile VAR_065968
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

ClinVar genetic disease variations for Deafness, Autosomal Recessive 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GIPC3 NM_133261.2(GIPC3): c.785T> G (p.Leu262Arg) single nucleotide variant Pathogenic rs387906999 GRCh37 Chromosome 19, 3589908: 3589908
2 GIPC3 NM_133261.2(GIPC3): c.785T> G (p.Leu262Arg) single nucleotide variant Pathogenic rs387906999 GRCh38 Chromosome 19, 3589910: 3589910
3 GIPC3 NM_133261.2(GIPC3): c.903G> A (p.Trp301Ter) single nucleotide variant Pathogenic rs387907000 GRCh37 Chromosome 19, 3590152: 3590152
4 GIPC3 NM_133261.2(GIPC3): c.903G> A (p.Trp301Ter) single nucleotide variant Pathogenic rs387907000 GRCh38 Chromosome 19, 3590154: 3590154
5 GIPC3 GIPC3, 1-BP DUP, 685G duplication Pathogenic
6 GIPC3 NM_133261.2(GIPC3): c.767G> A (p.Gly256Asp) single nucleotide variant Pathogenic rs387907001 GRCh37 Chromosome 19, 3589890: 3589890
7 GIPC3 NM_133261.2(GIPC3): c.767G> A (p.Gly256Asp) single nucleotide variant Pathogenic rs387907001 GRCh38 Chromosome 19, 3589892: 3589892
8 GIPC3 GIPC3, GLY46ARG single nucleotide variant Pathogenic
9 GIPC3 NM_133261.2(GIPC3): c.565C> T (p.Arg189Cys) single nucleotide variant Pathogenic rs387907002 GRCh37 Chromosome 19, 3586965: 3586965
10 GIPC3 NM_133261.2(GIPC3): c.565C> T (p.Arg189Cys) single nucleotide variant Pathogenic rs387907002 GRCh38 Chromosome 19, 3586967: 3586967

Expression for Deafness, Autosomal Recessive 15

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

Pathways for Deafness, Autosomal Recessive 15

GO Terms for Deafness, Autosomal Recessive 15

Sources for Deafness, Autosomal Recessive 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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