MCID: DFN178
MIFTS: 27

Deafness, Autosomal Recessive 59

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

Aliases & Classifications for Deafness, Autosomal Recessive 59

MalaCards integrated aliases for Deafness, Autosomal Recessive 59:

Name: Deafness, Autosomal Recessive 59 57 29 13 6 73
Dfnb59 57 12 75
Autosomal Recessive Nonsyndromic Deafness 59 12 15
Deafness, Autosomal Recessive, Type 59 40
Deafness, Autosomal Recessive, 59 75
Autosomal Recessive Deafness 59 12
Dfnb59 Auditory Neuropathy 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
hearing loss was progressive in some patients


HPO:

32
deafness, autosomal recessive 59:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610220
Disease Ontology 12 DOID:0110511
ICD10 33 H90.3
MedGen 42 C1857744
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002
UMLS 73 C1857744

Summaries for Deafness, Autosomal Recessive 59

UniProtKB/Swiss-Prot : 75 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 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 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 29.7 OTOF PJVK
2 neuropathy 28.4 DIAPH3 OTOF
3 deafness, autosomal recessive 67 10.0 GJB2 PJVK
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
5 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 DIAPH3 GJB2
6 dfnb1 9.7 GJB2 OTOF
7 deafness, autosomal recessive 1a 9.7 GJB2 OTOF
8 deafness, autosomal recessive 2 9.7 GJB2 OTOF
9 deafness, autosomal recessive 26 9.7 GJB2 OTOF
10 deafness, autosomal recessive 85 9.7 OTOF PJVK
11 deafness, autosomal recessive 83 9.6 OTOF PJVK
12 deafness, autosomal recessive 16 9.6 GJB2 OTOF
13 autosomal recessive nonsyndromic deafness 9.6 GJB2 OTOF
14 deafness, autosomal dominant 6 9.6 GJB2 OTOF
15 deafness, autosomal dominant 13 9.5 GJB2 OTOF
16 auditory system disease 9.4 GJB2 OTOF
17 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 GJB2 OTOF
18 sensorineural hearing loss 9.2 GJB2 OTOF
19 deafness, autosomal recessive 9 9.2 GJB2 OTOF PJVK
20 autosomal recessive nonsyndromic deafness 3 9.1 GJB2 OTOF PJVK
21 non-syndromic genetic deafness 9.1 GJB2 OTOF PJVK
22 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.1 GJB2 OTOF PJVK
23 deafness, autosomal recessive 9.1 GJB2 OTOF PJVK
24 nonsyndromic deafness 9.1 GJB2 OTOF PJVK
25 auditory neuropathy, autosomal dominant, 1 8.4 DIAPH3 GJB2 OTOF PJVK
26 autosomal dominant nonsyndromic deafness 8.4 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, (mild to profound)


Clinical features from OMIM:

610220

Human phenotypes related to Deafness, Autosomal Recessive 59:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 59:

46
# 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 29 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
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:

75
# 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 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PJVK NM_001042702.3(PJVK): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs111706634 GRCh37 Chromosome 2, 179320876: 179320876
2 PJVK NM_001042702.3(PJVK): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs111706634 GRCh38 Chromosome 2, 178456149: 178456149
3 PJVK NM_001042702.3(PJVK): c.161C> T (p.Thr54Ile) single nucleotide variant Pathogenic rs118203988 GRCh37 Chromosome 2, 179318297: 179318297
4 PJVK NM_001042702.3(PJVK): c.161C> T (p.Thr54Ile) single nucleotide variant Pathogenic rs118203988 GRCh38 Chromosome 2, 178453570: 178453570
5 PJVK DFNB59, 1-BP INS, 113T insertion Pathogenic
6 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh37 Chromosome 2, 179320828: 179320828
7 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh38 Chromosome 2, 178456101: 178456101
8 PJVK DFNB59, 1-BP DEL, 726T deletion Pathogenic
9 PJVK DFNB59, 1-BP DEL, 988G deletion Pathogenic
10 PJVK DFNB59, 1-BP DEL, 122A deletion Pathogenic
11 PJVK NM_001042702.4(PJVK): c.515_516delCT (p.Ser172Cysfs) deletion Pathogenic GRCh38 Chromosome 2, 178456117: 178456118
12 PJVK NM_001042702.4(PJVK): c.515_516delCT (p.Ser172Cysfs) deletion Pathogenic GRCh37 Chromosome 2, 179320844: 179320845

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 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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