Aliases & Classifications for Auditory System Disease

Summaries for Auditory System Disease

MalaCards based summary : Auditory System Disease, also known as ear diseases, is related to inner ear disease and nonsyndromic deafness, and has symptoms including coughing, earache and hyperacusis. An important gene associated with Auditory System Disease is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include testes, bone and thyroid, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Wikipedia : 76 The auditory system is the sensory system for the sense of hearing. It includes both the sensory organs... more...

Related Diseases for Auditory System Disease

Diseases related to Auditory System Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 inner ear disease 32.6 CDH23 COCH GJB2 GJB3 GJB6 KCNQ4
2 nonsyndromic deafness 27.5 CDH23 COCH GJB2 GJB3 GJB6 KCNQ4
3 autoimmune inner ear disease 12.1
4 middle ear disease 12.1
5 external ear disease 12.0
6 hypotrichosis-deafness syndrome 11.0 GJB2 GJB3
7 deafness, autosomal dominant 24 11.0 GJB2 GJB6
8 deafness, autosomal recessive 93 10.9 GJB2 GJB3
9 kid syndrome 10.9 GJB2 GJB3 GJB6
10 pseudoainhum 10.9 GJB2 GJB3 GJB6
11 deafness, autosomal recessive 28 10.9 GJB2 GJB3
12 knuckle pads 10.8 GJB2 GJB3 GJB6
13 usher syndrome, type ig 10.8 CDH23 MYO7A
14 retinitis pigmentosa-deafness syndrome 10.8 CDH23 MYO7A
15 deafness, autosomal recessive 59 10.8 GJB2 OTOF
16 congenital cytomegalovirus 10.8 GJB2 GJB6 MT-RNR1
17 erythrokeratodermia variabilis et progressiva 1 10.8 GJB2 GJB3 GJB6
18 deafness, autosomal recessive 3 10.8 GJB2 MYO15A MYO7A
19 knuckle pads, leukonychia, and sensorineural deafness 10.8 GJB2 GJB6
20 clouston syndrome 10.8 GJB2 GJB3 GJB6
21 deafness, x-linked 2 10.8 GJB2 GJB6 POU3F4
22 adhesive otitis media 10.8
23 deafness, autosomal recessive 7 10.8 GJB2 MT-RNR1 TMC1
24 auditory neuropathy spectrum disorder 10.8 MT-RNR1 MYO7A OTOF
25 hereditary hearing loss and deafness 10.8 MT-RNR1 POU3F4
26 deafness, autosomal dominant 22 10.8 COCH MYO15A MYO7A
27 deafness, autosomal recessive 21 10.7 GJB2 TECTA
28 deafness, autosomal recessive 12 10.7 CDH23 GJB2 MYO7A
29 keratitis, hereditary 10.7 GJB2 GJB6 TLR9
30 deafness, autosomal recessive 9 10.7 GJB2 OTOF TECTA
31 corneal disease 10.7 GJB2 GJB6 TLR9
32 deafness, autosomal recessive 1a 10.7 GJB2 GJB3 GJB6 OTOF
33 dfnb1 10.7 GJB2 GJB6 MYO7A OTOF
34 deafness, autosomal dominant 11 10.7 MYO15A MYO7A POU4F3
35 auditory neuropathy, autosomal dominant, 1 10.7 GJB2 OTOF
36 deafness, autosomal dominant 36 10.6 GJB2 MT-RNR1 SLC26A4 TMC1
37 usher syndrome, type if 10.6 CDH23 MYO7A
38 vohwinkel syndrome 10.6 GJB2 GJB6
39 vestibular disease 10.6 COCH GJB2 GJB3 GJB6 SLC26A4
40 deafness, autosomal recessive 23 10.5 CDH23 GJB2 GJB6 MYO7A SLC26A4
41 deafness, autosomal dominant 48 10.4 MYO15A MYO7A
42 deafness, autosomal recessive 26 10.4 CDH23 GJB2 OTOF SLC26A4 TECTA
43 deafness, autosomal dominant 2a 10.3 COCH GJB2 GJB6 KCNQ4 TMPRSS3
44 deafness, autosomal recessive 2 10.3 GJB2 MYO15A MYO7A OTOF TECTA
45 deafness, autosomal dominant 13 10.3 COCH GJB2 MYO7A OTOF SLC26A4 TMPRSS3
46 deafness, autosomal recessive 30 10.2 GJB2 MT-RNR1 MYO15A MYO7A SLC26A4 TMC1
47 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 GJB2 GJB3
48 deafness, autosomal recessive 85 10.2 CDH23 MYO15A MYO7A OTOF SLC26A4 TMPRSS3
49 deafness, autosomal recessive 83 10.2 CDH23 MYO15A MYO7A OTOF SLC26A4 TMPRSS3
50 hodgkin's lymphoma, nodular sclerosis 10.1 GJB2 GJB3 GJB6 MT-RNR1 MYO15A SLC26A4

Comorbidity relations with Auditory System Disease via Phenotypic Disease Network (PDN):


Hypertension, Essential

Graphical network of the top 20 diseases related to Auditory System Disease:



Diseases related to Auditory System Disease

Symptoms & Phenotypes for Auditory System Disease

UMLS symptoms related to Auditory System Disease:


coughing, earache, hyperacusis, snoring, tinnitus, sore throat, vertigo/dizziness, plugged feeling, equilibration disorder

MGI Mouse Phenotypes related to Auditory System Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 CDH23 GJB6 HSPA4 MYO15A MYO7A OTOF
2 hearing/vestibular/ear MP:0005377 9.83 CDH23 COCH GJB2 GJB6 KCNQ4 MYO15A
3 nervous system MP:0003631 9.5 MYO15A MYO7A OTOF POU3F4 POU4F3 SLC26A4

Drugs & Therapeutics for Auditory System Disease

Search Clinical Trials , NIH Clinical Center for Auditory System Disease

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: ear diseases

Genetic Tests for Auditory System Disease

Anatomical Context for Auditory System Disease

MalaCards organs/tissues related to Auditory System Disease:

41
Testes, Bone, Thyroid, Lung, Colon, Brain, Eye

Publications for Auditory System Disease

Articles related to Auditory System Disease:

(show top 50) (show all 363)
# Title Authors Year
1
Computed tomographic findings in 205 dogs with clinical signs compatible with middle ear disease: a retrospective study. ( 28994490 )
2018
2
Immune-Mediated Inner Ear Disease: Diagnostic and therapeutic approaches. ( 29525415 )
2018
3
Middle-ear disease in children with cleft palate. ( 29764722 )
2018
4
The Role of the Eustachian Tube in Middle Ear Disease. ( 29794454 )
2018
5
Assessment of vestibular function in patients with chronic middle ear disease using the VHIT and VEMP test. ( 29665318 )
2018
6
Autoimmune Inner Ear Disease: Immune Biomarkers, Audiovestibular Aspects, and Therapeutic Modalities of Cogan's Syndrome. ( 29850616 )
2018
7
Intratympanic gadolinium magnetic resonance imaging supports the role of endolymphatic hydrops in the pathogenesis of immune-mediated inner-ear disease. ( 29888688 )
2018
8
Middle ear disease in Danish toddlers attending nursery day-care - Applicability of OM-6, disease specific quality of life and predictors for middle ear symptoms. ( 29859574 )
2018
9
Zebrafish models of human eye and inner ear diseases. ( 28129854 )
2017
10
Postoperative Mastoid Aeration Following Canal Wall Up Mastoidectomy according to Preoperative Middle Ear Disease: Analysis of Temporal Bone Computed Tomography Scans. ( 28942628 )
2017
11
The Balance of Tissue Inhibitor of Metalloproteinase-1 and Matrix Metalloproteinase-9 in the Autoimmune Inner Ear Disease Patients. ( 28696822 )
2017
12
"Commentary to: 'Endoscopic and clinical benefits of hyaluronic acid in children with chronic adenoiditis and middle ear disease'"? ( 28474190 )
2017
13
It is prudent to consider use of endoscopic tympanoplasty to treat complicated middle-ear disease. ( 28608240 )
2017
14
Autoimmune inner ear disease in a melanoma patient treated with pembrolizumab. ( 26885370 )
2016
15
Eustachian Tube Function in 6-Year-Old Children with and without a History of Middle Ear Disease. ( 26626132 )
2016
16
Endoscopic and clinical benefits of hyaluronic acid in children with chronic adenoiditis and middle ear disease. ( 27695944 )
2016
17
Chronic cerebrospinal venous insufficiency as a cause of inner ear diseases. ( 27846752 )
2016
18
Anterior Inferior cerebellar artery infarction misdiagnosed as inner ear disease. ( 29553620 )
2016
19
What Role Does Allergy Play in Chronic Ear Disease and Laryngitis? ( 27783318 )
2016
20
Systematic Review of Treatments for Autoimmune Inner Ear Disease. ( 26485595 )
2015
21
PneuMum: Impact from a randomised controlled trial of maternal 23-valent pneumococcal polysaccharide vaccination on middle ear disease amongst Indigenous infants, Northern Territory, Australia. ( 26529076 )
2015
22
Progression of autoimmune inner ear disease to labyrinthitis ossificans: clinical and radiologic correlation. ( 25738715 )
2015
23
Current understanding of the pathogenesis of autoimmune inner ear disease: a review. ( 25847404 )
2015
24
Paraneoplastic syndrome: a masquerade of autoimmune inner ear disease. ( 25427223 )
2015
25
Computed tomographic features of clinical and subclinical middle ear disease in domestic rabbits (Oryctolagus cuniculus): 88 cases (2007-2014). ( 25587734 )
2015
26
N-Acetylcysteine attenuates tumor necrosis factor alpha levels in autoimmune inner ear disease patients. ( 26392121 )
2015
27
Diffuse systemic sclerosis presenting as Meniere's disease-like symptoms as part of autoimmune inner ear disease. ( 26040060 )
2015
28
A comparison of systemic inflammatory responses between immunocompetent and immunocompromised patients presenting with otorrhea due to chronic suppurative middle ear disease. ( 25728629 )
2015
29
COMQ-12 scores in adult patients without chronic middle ear disease. ( 25142494 )
2014
30
Early efficacy trial of anakinra in corticosteroid-resistant autoimmune inner ear disease. ( 25133431 )
2014
31
The role of intracochlear drug delivery devices in the management of inner ear disease. ( 25347140 )
2014
32
IL-1I^ inhibition in autoimmune inner ear disease: can you hear me now? ( 25133418 )
2014
33
Long-term hearing deficits after childhood middle ear disease. ( 25127328 )
2014
34
Labyrinthine fenestration for stapes fixation in chronic ear disease others than otosclerosis. ( 24899411 )
2014
35
Blind sac closure of the external auditory canal for chronic middle ear disease. ( 24317214 )
2014
36
Extracellular and intracellular melanin in inflammatory middle ear disease. ( 24999501 )
2014
37
Ocular vestibular evoked myogenic potentials induced by bone-conducted vibration in patients with unilateral inner ear disease. ( 24215219 )
2014
38
Cochlin in autoimmune inner ear disease: Is the search for an inner ear autoantigen over? ( 25199741 )
2014
39
New prospects in the diagnosis and treatment of immune-mediated inner ear disease. ( 25332908 )
2014
40
An open label study to evaluate the safety and efficacy of intratympanic golimumab therapy in patients with autoimmune inner ear disease. ( 25203561 )
2014
41
Eustachian tube opening measured by sonotubometry is poorer in adults with a history of past middle ear disease. ( 24491807 )
2014
42
Middle Ear Disease and Cochlear Implant Function: A Case Study. ( 26693101 )
2014
43
Reply to 'migraine, sudden sensorineural hearing loss and autoimmune ear disease'. ( 23615492 )
2013
44
Cogan's syndrome: an autoimmune inner ear disease. ( 22846458 )
2013
45
Review of the biologic agents used for immune-mediated inner ear disease. ( 22770424 )
2013
46
Household number associated with middle ear disease at an urban Indigenous health service: a cross-sectional study. ( 23711080 )
2013
47
Innate immune recognition of molds and homology to the inner ear protein, cochlin, in patients with autoimmune inner ear disease. ( 23912888 )
2013
48
Migraine, sudden sensorineural hearing loss and autoimmune ear disease. ( 23615491 )
2013
49
Autoimmune inner ear disease preliminary case report: audiometric findings following steroid treatments. ( 23800807 )
2013
50
Developments in delivery of medications for inner ear disease. ( 23560526 )
2013

Variations for Auditory System Disease

ClinVar genetic disease variations for Auditory System Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(7;19)(q32;q13.1)dn Translocation Pathogenic
2 46;XY;inv(2)(q11.2q24.2)dn inversion Uncertain significance
3 subset of 47 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18894835-21505417) copy number loss Pathogenic GRCh37 Chromosome 22, 18894835: 21505417

Expression for Auditory System Disease

Search GEO for disease gene expression data for Auditory System Disease.

Pathways for Auditory System Disease

Pathways related to Auditory System Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 GJB2 GJB3 GJB6

GO Terms for Auditory System Disease

Cellular components related to Auditory System Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.56 GJB6 MYO7A SLC26A4 TLR9
2 stereocilium GO:0032420 9.33 CDH23 MYO15A MYO7A
3 gap junction GO:0005921 9.13 GJB2 GJB3 GJB6
4 connexin complex GO:0005922 8.8 GJB2 GJB3 GJB6

Biological processes related to Auditory System Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.5 CDH23 COCH GJB2 GJB6 KCNQ4 MYO15A
2 protein refolding GO:0042026 9.49 HSPA4 HSPA8
3 cellular response to unfolded protein GO:0034620 9.48 HSPA4 HSPA8
4 inner ear receptor cell stereocilium organization GO:0060122 9.46 CDH23 MYO7A
5 inner ear morphogenesis GO:0042472 9.46 KCNQ4 MYO15A MYO7A POU4F3
6 sensory perception of light stimulus GO:0050953 9.43 CDH23 MYO7A
7 cell communication GO:0007154 9.43 GJB2 GJB3 GJB6
8 inner ear auditory receptor cell differentiation GO:0042491 9.4 MYO7A POU4F3
9 inner ear receptor cell differentiation GO:0060113 9.37 MYO7A POU4F3
10 inner ear development GO:0048839 9.35 GJB2 GJB6 MYO7A POU3F4 POU4F3
11 equilibrioception GO:0050957 9.32 CDH23 MYO7A

Molecular functions related to Auditory System Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled GO:0042623 8.96 HSPA4 HSPA8
2 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Auditory System Disease

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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