DFNB59
MCID: DFN178
MIFTS: 32

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 56 29 13 6 71
Dfnb59 56 12 73
Autosomal Recessive Nonsyndromic Deafness 59 12 15
Deafness, Autosomal Recessive, Type 59 39
Deafness, Autosomal Recessive, 59 73
Autosomal Recessive Deafness 59 12
Dfnb59 Auditory Neuropathy 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
hearing loss was progressive in some patients


HPO:

31
deafness, autosomal recessive 59:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110511
OMIM 56 610220
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1857744
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 C1857744

Summaries for Deafness, Autosomal Recessive 59

UniProtKB/Swiss-Prot : 73 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 branchiootic syndrome 1. 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.

More information from OMIM: 610220 PS220290

Related Diseases for Deafness, Autosomal Recessive 59

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 59 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 30.5 PJVK OTOF OPA1
2 branchiootic syndrome 1 30.3 PJVK OTOF GJB2
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 30.3 PJVK OTOF GJB2
4 neuropathy 30.1 OTOF OPA1 DIAPH3
5 nonsyndromic deafness 29.7 PJVK OTOF GJB2 DIAPH3
6 deafness, autosomal recessive 83 10.2 PJVK OTOF
7 deafness, autosomal recessive 22 10.2 PJVK OTOF
8 deafness, autosomal recessive 93 10.1 PJVK GJB2
9 deafness, autosomal recessive 77 10.1 PJVK GJB2
10 dfnb1 10.1 OTOF GJB2
11 cone-rod dystrophy 2 10.1
12 retinitis pigmentosa 10.1
13 deafness, autosomal dominant 5 10.1
14 deafness, autosomal recessive 27 10.1
15 retinitis pigmentosa 38 10.1
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
17 neuroretinitis 10.1
18 retinitis 10.1
19 retinal degeneration 10.1
20 otof-related deafness 10.1
21 deafness, autosomal dominant 6 10.1 PJVK GJB2
22 deafness, autosomal recessive 49 10.1 PJVK GJB2
23 deafness, autosomal dominant 67 10.1 OTOF GJB2
24 deafness, autosomal recessive 16 10.0 OTOF GJB2
25 deafness, autosomal dominant 25 10.0 OTOF GJB2
26 hodgkin's lymphoma, nodular sclerosis 10.0 OTOF GJB2
27 deafness, autosomal dominant 1 10.0 GJB2 DIAPH3
28 vestibular disease 10.0 OTOF GJB2
29 usher syndrome, type id 10.0 PJVK GJB2
30 x-linked nonsyndromic deafness 10.0 TMEM126A GJB2
31 deafness, autosomal recessive 12 9.9 OTOF GJB2
32 scotoma 9.9 TMEM126A OPA1
33 autosomal recessive nonsyndromic deafness 9.9 PJVK OTOF GJB2
34 autosomal recessive nonsyndromic deafness 3 9.9 PJVK OTOF GJB2
35 deafness, autosomal recessive 2 9.9 PJVK OTOF GJB2
36 deafness, autosomal recessive 21 9.9 PJVK OTOF GJB2
37 deafness, autosomal recessive 8 9.9 PJVK OTOF GJB2
38 deafness, autosomal recessive 7 9.9 PJVK OTOF GJB2
39 deafness, autosomal recessive 9 9.9 PJVK OTOF GJB2
40 deafness, autosomal recessive 1a 9.9 PJVK OTOF GJB2
41 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 PJVK OTOF GJB2
42 rare genetic deafness 9.8 PJVK OTOF GJB2
43 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 GJB2 DIAPH3
44 usher syndrome, type i 9.8 PJVK OTOF GJB2
45 branchiootic syndrome 9.8 TIMM8A GJB2
46 cranial nerve disease 9.7 TMEM126A OPA1
47 pendred syndrome 9.7 OTOF GJB2
48 usher syndrome type 2 9.7 OTOF OPA1 GJB2
49 mohr-tranebjaerg syndrome 9.7 TMEM126A TIMM8A
50 otosclerosis 9.6 SDSL PJVK GJB2

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:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, (mild to profound)

Clinical features from OMIM:

610220

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 59:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 GJB2 OPA1 OTOF PJVK

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:

(show all 21)
# Title Authors PMID Year
1
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. 61 56 6
17373699 2007
2
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. 61 56 6
17301963 2007
3
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. 61 56 6
17329413 2007
4
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. 61 56 6
16804542 2006
5
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. 6
17718865 2007
6
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
7
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort. 61
31389194 2019
8
Monitoring gasdermin pore formation in vitro. 61
31455540 2019
9
Structural Insight of Gasdermin Family Driving Pyroptotic Cell Death. 61
31628657 2019
10
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. 61
28964305 2017
11
Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner. 61
28209736 2017
12
Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice. 61
28089576 2017
13
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients. 61
27260575 2016
14
Molecular study of patients with auditory neuropathy. 61
27177047 2016
15
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. 61
26166082 2015
16
Distribution of pejvakin in human spiral ganglion: An immunohistochemical study. 61
23407324 2013
17
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. 61
21696384 2012
18
A p.C343S missense mutation in PJVK causes progressive hearing loss. 61
22617256 2012
19
[Mutational analysis of candidate genes in a Chinese pedigree with dominantly inherited auditory neuropathy]. 61
22870719 2012
20
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. 61
21935370 2011
21
[Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy]. 61
19160860 2008

Variations for Deafness, Autosomal Recessive 59

ClinVar genetic disease variations for Deafness, Autosomal Recessive 59:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PJVK NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)SNV Pathogenic 1297 rs111706634 2:179320876-179320876 2:178456149-178456149
2 PJVK NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile)SNV Pathogenic 1298 rs118203988 2:179318297-179318297 2:178453570-178453570
3 PJVK NM_001042702.5(PJVK):c.113dup (p.Lys41fs)duplication Pathogenic 1299 rs1559365985 2:179318248-179318249 2:178453521-178453522
4 PJVK NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)SNV Pathogenic 1300 rs118203989 2:179320828-179320828 2:178456101-178456101
5 PJVK NM_001042702.5(PJVK):c.726del (p.Phe242fs)deletion Pathogenic 1301 rs1559371613 2:179325131-179325131 2:178460404-178460404
6 PJVK NM_001042702.5(PJVK):c.988del (p.Val330fs)deletion Pathogenic 1302 rs1559372640 2:179325930-179325930 2:178461203-178461203
7 PJVK NM_001042702.5(PJVK):c.122del (p.Lys41fs)deletion Pathogenic 1303 rs1559366000 2:179318257-179318257 2:178453530-178453530
8 PJVK NM_001353775.1(PJVK):c.914_916ACA[1] (p.Asn306del)short repeat Pathogenic 562095 rs1559372512 2:179325847-179325849 2:178461120-178461122
9 PJVK NM_001042702.4(PJVK):c.794G>A (p.Arg265His)SNV Uncertain significance 288934 rs199841343 2:179325736-179325736 2:178461009-178461009

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

73
# 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

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

Cellular components related to Deafness, Autosomal Recessive 59 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.13 TMEM126A TIMM8A OPA1
2 mitochondrial intermembrane space GO:0005758 8.62 TIMM8A OPA1

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 PJVK OTOF GJB2

Sources for Deafness, Autosomal Recessive 59

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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