MCID: DFN178
MIFTS: 28

Deafness, Autosomal Recessive 59

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

Aliases & Classifications for Deafness, Autosomal Recessive 59

MalaCards integrated aliases for Deafness, Autosomal Recessive 59:

Name: Deafness, Autosomal Recessive 59 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 59 12 14
Dfnb59 12 71
Deafness, Autosomal Recessive, 59 71
Autosomal Recessive Deafness 59 12
Dfnb59 Auditory Neuropathy 71

Characteristics:

OMIM:

54
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 54 610220
Disease Ontology 12 DOID:0110511
ICD10 33 H90.3
MedGen 40 C1857744
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005 60700002

Summaries for Deafness, Autosomal Recessive 59

UniProtKB/Swiss-Prot : 71 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 autosomal recessive nonsyndromic deafness 59, is related to dfnb59 nonsyndromic hearing loss and deafness and psoriatic arthritis, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 59 is DIAPH3 (Diaphanous Related Formin 3). Related phenotypes are hearing/vestibular/ear and no phenotypic analysis

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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 dfnb59 nonsyndromic hearing loss and deafness 11.8
2 psoriatic arthritis 10.1 GJB2 PJVK
3 neuropathy 10.0
4 auditory neuropathy 10.0
5 nodular lichen myxedematosus 9.8 DIAPH3 GJB2
6 leber congenital amaurosis 14 9.8 GJB2 OTOF
7 diabetes persistent mullerian ducts 9.8 GJB2 OTOF
8 deafness, autosomal recessive 9 9.8 GJB2 OTOF
9 deafness, autosomal dominant 11 9.8 GJB2 OTOF
10 bifid nose with or without anorectal and renal anomalies 9.8 OTOF PJVK
11 ectodermal dysplasia 6, hair/nail type 9.8 OTOF PJVK
12 microcephaly and chorioretinopathy, autosomal recessive, 3 9.7 GJB2 OTOF
13 congenital muscular dystrophy due to lmna mutation 9.7 GJB2 OTOF
14 autosomal recessive nonsyndromic deafness 8 9.7 GJB2 OTOF
15 orofacial cleft 9.7 GJB2 OTOF
16 deafness, autosomal recessive 53 9.6 GJB2 OTOF
17 narcissistic personality disorder 9.5 GJB2 OTOF
18 dihydrolipoamide dehydrogenase deficiency 9.4 GJB2 OTOF
19 decubitus ulcer 9.4 DIAPH3 OTOF
20 nonsyndromic hydrocephalus, ccdc88c-related 9.3 GJB2 OTOF PJVK
21 deafness, autosomal recessive 9.3 GJB2 OTOF PJVK
22 discrete papular lichen myxedematosus 9.3 GJB2 OTOF PJVK
23 autosomal recessive nonsyndromic deafness 9.3 GJB2 OTOF PJVK
24 endometritis 9.2 GJB2 OTOF
25 pigmented nodular adrenocortical disease, primary, 2 8.7 DIAPH3 GJB2 OTOF PJVK
26 developmental dysplasia of the hip 1 8.7 DIAPH3 GJB2 OTOF PJVK
27 ausems wittebol-post hennekam syndrome 8.7 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:

54

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


Clinical features from OMIM:

610220

Human phenotypes related to Deafness, Autosomal Recessive 59:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 59:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 GJB2 OTOF
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:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 59 29

Anatomical Context for Deafness, Autosomal Recessive 59

Publications for Deafness, Autosomal Recessive 59

Variations for Deafness, Autosomal Recessive 59

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

71
id 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
id 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.161C> T (p.Thr54Ile) single nucleotide variant Pathogenic rs118203988 GRCh37 Chromosome 2, 179318297: 179318297
3 PJVK DFNB59, 1-BP INS, 113T insertion Pathogenic
4 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh37 Chromosome 2, 179320828: 179320828
5 PJVK DFNB59, 1-BP DEL, 726T deletion Pathogenic
6 PJVK DFNB59, 1-BP DEL, 988G deletion Pathogenic
7 PJVK DFNB59, 1-BP DEL, 122A deletion Pathogenic

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:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.62 GJB2 OTOF

Sources for Deafness, Autosomal Recessive 59

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....