DFNB59
MCID: DFN178
MIFTS: 29

Deafness, Autosomal Recessive 59 (DFNB59)

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

Aliases & Classifications for Deafness, Autosomal Recessive 59

MalaCards integrated aliases for Deafness, Autosomal Recessive 59:

Name: Deafness, Autosomal Recessive 59 58 30 13 6 74
Dfnb59 58 12 76
Autosomal Recessive Nonsyndromic Deafness 59 12 15
Deafness, Autosomal Recessive, Type 59 41
Deafness, Autosomal Recessive, 59 76
Autosomal Recessive Deafness 59 12
Dfnb59 Auditory Neuropathy 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
hearing loss was progressive in some patients


HPO:

33
deafness, autosomal recessive 59:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110511
OMIM 58 610220
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1857744
SNOMED-CT via HPO 70 258211005 60700002
UMLS 74 C1857744

Summaries for Deafness, Autosomal Recessive 59

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 59: A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem.

MalaCards based summary : Deafness, Autosomal Recessive 59, also known as dfnb59, is related to auditory neuropathy spectrum disorder and neuropathy. An important gene associated with Deafness, Autosomal Recessive 59 is PJVK (Pejvakin). Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the DFNB59 gene on chromosome 2q31.

Description from OMIM: 610220

Related Diseases for Deafness, Autosomal Recessive 59

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
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 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
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 59 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 30.1 OTOF PJVK
2 neuropathy 30.1 DIAPH3 OTOF
3 retinitis pigmentosa 38 10.1
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
5 deafness, autosomal recessive 67 9.9 GJB2 PJVK
6 deafness, autosomal recessive 9.9 OTOF PJVK
7 autosomal recessive nonsyndromic deafness 9.9 GJB2 OTOF
8 dfnb1 9.8 GJB2 OTOF
9 deafness, autosomal recessive 1a 9.8 GJB2 OTOF
10 deafness, autosomal recessive 2 9.8 GJB2 OTOF
11 deafness, autosomal recessive 85 9.8 OTOF PJVK
12 deafness, autosomal recessive 83 9.8 OTOF PJVK
13 deafness, autosomal recessive 26 9.8 GJB2 OTOF
14 deafness, autosomal recessive 16 9.8 GJB2 OTOF
15 deafness, autosomal dominant 6 9.7 GJB2 OTOF
16 deafness, autosomal dominant 13 9.7 GJB2 OTOF
17 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 OTOF
18 deafness, autosomal recessive 9 9.6 GJB2 OTOF PJVK
19 autosomal recessive nonsyndromic deafness 3 9.6 GJB2 OTOF PJVK
20 branchiootic syndrome 1 9.6 GJB2 OTOF PJVK
21 auditory system disease 9.6 GJB2 OTOF PJVK
22 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 GJB2 OTOF PJVK
23 non-syndromic genetic deafness 9.5 GJB2 OTOF PJVK
24 sensorineural hearing loss 9.5 GJB2 OTOF
25 auditory neuropathy, autosomal dominant, 1 9.2 DIAPH3 GJB2 OTOF PJVK
26 nonsyndromic deafness 9.2 DIAPH3 GJB2 OTOF PJVK

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 59:



Diseases related to Deafness, Autosomal Recessive 59

Symptoms & Phenotypes for Deafness, Autosomal Recessive 59

Human phenotypes related to Deafness, Autosomal Recessive 59:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, sensorineural, (mild to profound)

Clinical features from OMIM:

610220

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 59:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 GJB2 OTOF PJVK
2 no phenotypic analysis MP:0003012 8.8 DIAPH3 GJB2 OTOF

Drugs & Therapeutics for Deafness, Autosomal Recessive 59

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 59

Genetic Tests for Deafness, Autosomal Recessive 59

Genetic tests related to Deafness, Autosomal Recessive 59:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 59 30 PJVK

Anatomical Context for Deafness, Autosomal Recessive 59

Publications for Deafness, Autosomal Recessive 59

Articles related to Deafness, Autosomal Recessive 59:

# Title Authors Year
1
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. ( 21696384 )
2012
2
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. ( 17301963 )
2007
3
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. ( 17373699 )
2007
4
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. ( 17329413 )
2007
5
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. ( 17718865 )
2007
6
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. ( 16804542 )
2006

Variations for Deafness, Autosomal Recessive 59

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 59:

76
# Symbol AA change Variation ID SNP ID
1 PJVK p.Thr54Ile VAR_027387 rs118203988
2 PJVK p.Arg183Trp VAR_027388 rs111706634
3 PJVK p.Cys343Ser VAR_068891 rs569088856

ClinVar genetic disease variations for Deafness, Autosomal Recessive 59:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 PJVK NM_001042702.4(PJVK): c.726del (p.Phe242Leufs) deletion Pathogenic GRCh38 Chromosome 2, 178460406: 178460406
2 PJVK NM_001042702.3(PJVK): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs111706634 GRCh37 Chromosome 2, 179320876: 179320876
3 PJVK NM_001042702.3(PJVK): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs111706634 GRCh38 Chromosome 2, 178456149: 178456149
4 PJVK NM_001042702.3(PJVK): c.161C> T (p.Thr54Ile) single nucleotide variant Pathogenic rs118203988 GRCh37 Chromosome 2, 179318297: 179318297
5 PJVK NM_001042702.3(PJVK): c.161C> T (p.Thr54Ile) single nucleotide variant Pathogenic rs118203988 GRCh38 Chromosome 2, 178453570: 178453570
6 PJVK NM_001042702.4(PJVK): c.113dup (p.Lys41Glufs) duplication Pathogenic GRCh38 Chromosome 2, 178453522: 178453522
7 PJVK NM_001042702.4(PJVK): c.113dup (p.Lys41Glufs) duplication Pathogenic GRCh37 Chromosome 2, 179318249: 179318249
8 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh37 Chromosome 2, 179320828: 179320828
9 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh38 Chromosome 2, 178456101: 178456101
10 PJVK NM_001042702.4(PJVK): c.726del (p.Phe242Leufs) deletion Pathogenic GRCh37 Chromosome 2, 179325133: 179325133
11 PJVK NM_001042702.4(PJVK): c.988del (p.Val330Leufs) deletion Pathogenic GRCh38 Chromosome 2, 178461203: 178461203
12 PJVK NM_001042702.4(PJVK): c.988del (p.Val330Leufs) deletion Pathogenic GRCh37 Chromosome 2, 179325930: 179325930
13 PJVK NM_001042702.4(PJVK): c.122del (p.Lys41Serfs) deletion Pathogenic GRCh37 Chromosome 2, 179318258: 179318258
14 PJVK NM_001042702.4(PJVK): c.122del (p.Lys41Serfs) deletion Pathogenic GRCh38 Chromosome 2, 178453531: 178453531
15 PJVK NM_001042702.4(PJVK): c.794G> A (p.Arg265His) single nucleotide variant Uncertain significance rs199841343 GRCh37 Chromosome 2, 179325736: 179325736
16 PJVK NM_001042702.4(PJVK): c.794G> A (p.Arg265His) single nucleotide variant Uncertain significance rs199841343 GRCh38 Chromosome 2, 178461009: 178461009
17 PJVK NM_001042702.4(PJVK): c.908_910delACA (p.Asn303del) deletion Pathogenic GRCh37 Chromosome 2, 179325850: 179325852
18 PJVK NM_001042702.4(PJVK): c.908_910delACA (p.Asn303del) deletion Pathogenic GRCh38 Chromosome 2, 178461123: 178461125

Expression for Deafness, Autosomal Recessive 59

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 59.

Pathways for Deafness, Autosomal Recessive 59

GO Terms for Deafness, Autosomal Recessive 59

Biological processes related to Deafness, Autosomal Recessive 59 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 GJB2 OTOF PJVK

Sources for Deafness, Autosomal Recessive 59

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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73 Tocris
74 UMLS
75 UMLS via Orphanet
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