DFNB74
MCID: DFN116
MIFTS: 29

Deafness, Autosomal Recessive 74 (DFNB74)

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

Aliases & Classifications for Deafness, Autosomal Recessive 74

MalaCards integrated aliases for Deafness, Autosomal Recessive 74:

Name: Deafness, Autosomal Recessive 74 57 29 13 6 73
Dfnb74 57 12 75
Autosomal Recessive Nonsyndromic Deafness 74 12 15
Deafness, Autosomal Recessive, Type 74 40
Deafness, Autosomal Recessive, 74 75
Autosomal Recessive Deafness 74 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness, autosomal recessive 74:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613718
Disease Ontology 12 DOID:0110523
ICD10 33 H90.3
MedGen 42 C2239351
MeSH 44 D006319
UMLS 73 C2239351

Summaries for Deafness, Autosomal Recessive 74

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 74: A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound 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 74, also known as dfnb74, is related to autonomic nervous system neoplasm and peripheral nervous system neoplasm. An important gene associated with Deafness, Autosomal Recessive 74 is MSRB3 (Methionine Sulfoxide Reductase B3), and among its related pathways/superpathways are Presenilin-Mediated Signaling and Copper homeostasis. Affiliated tissues include brain, and related phenotypes are hearing impairment and Decreased caspase 3/7 activity

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the MSRB3 gene on chromosome 12q14.

Description from OMIM: 613718

Related Diseases for Deafness, Autosomal Recessive 74

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 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 74 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autonomic nervous system neoplasm 9.9 BACE1 CASP3
2 peripheral nervous system neoplasm 9.8 BACE1 CASP3
3 toxic encephalopathy 9.8 BACE1 CASP3
4 nervous system cancer 9.8 BACE1 CASP3
5 nervous system disease 9.8 BACE1 CASP3
6 central nervous system disease 9.8 BACE1 CASP3
7 neuroblastoma 9.7 BACE1 CASP3

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 74:



Diseases related to Deafness, Autosomal Recessive 74

Symptoms & Phenotypes for Deafness, Autosomal Recessive 74

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, neurosensory
severe to profound deafness


Clinical features from OMIM:

613718

Human phenotypes related to Deafness, Autosomal Recessive 74:

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

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 74 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.62 BACE1 CASP3

Drugs & Therapeutics for Deafness, Autosomal Recessive 74

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 74

Genetic Tests for Deafness, Autosomal Recessive 74

Genetic tests related to Deafness, Autosomal Recessive 74:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 74 29 MSRB3

Anatomical Context for Deafness, Autosomal Recessive 74

MalaCards organs/tissues related to Deafness, Autosomal Recessive 74:

41
Brain

Publications for Deafness, Autosomal Recessive 74

Variations for Deafness, Autosomal Recessive 74

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 74:

75
# Symbol AA change Variation ID SNP ID
1 MSRB3 p.Cys89Gly VAR_064904 rs387907088

ClinVar genetic disease variations for Deafness, Autosomal Recessive 74:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MSRB3 NM_001031679.2(MSRB3): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs149258390 GRCh37 Chromosome 12, 65702414: 65702414
2 MSRB3 NM_001031679.2(MSRB3): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs149258390 GRCh38 Chromosome 12, 65308634: 65308634
3 MSRB3 NM_198080.3(MSRB3): c.265T> G (p.Cys89Gly) single nucleotide variant Pathogenic rs387907088 GRCh37 Chromosome 12, 65722364: 65722364
4 MSRB3 NM_198080.3(MSRB3): c.265T> G (p.Cys89Gly) single nucleotide variant Pathogenic rs387907088 GRCh38 Chromosome 12, 65328584: 65328584
5 MSRB3 NM_198080.3(MSRB3): c.412-1G> A single nucleotide variant Pathogenic rs751906778 GRCh37 Chromosome 12, 65856934: 65856934
6 MSRB3 NM_198080.3(MSRB3): c.412-1G> A single nucleotide variant Pathogenic rs751906778 GRCh38 Chromosome 12, 65463154: 65463154

Expression for Deafness, Autosomal Recessive 74

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 74.

Pathways for Deafness, Autosomal Recessive 74

Pathways related to Deafness, Autosomal Recessive 74 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 BACE1 CASP3
2 10.36 BACE1 CASP3

GO Terms for Deafness, Autosomal Recessive 74

Cellular components related to Deafness, Autosomal Recessive 74 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.96 BACE1 CASP3
2 membrane raft GO:0045121 8.62 BACE1 CASP3

Biological processes related to Deafness, Autosomal Recessive 74 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of neuron apoptotic process GO:0043525 8.62 BACE1 CASP3

Molecular functions related to Deafness, Autosomal Recessive 74 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 8.96 BACE1 CASP3
2 aspartic-type endopeptidase activity GO:0004190 8.62 BACE1 CASP3

Sources for Deafness, Autosomal Recessive 74

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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