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 middle ear disease and inner ear disease, and has symptoms including hyperacusis, tinnitus and snoring. 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, eye 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 119)
# Related Disease Score Top Affiliating Genes
1 middle ear disease 33.5 RTEL1 SLC29A3 TLR9
2 inner ear disease 33.0 ATP6V1B1 CDH23 COCH GJB2 GJB3 GJB6
3 superior semicircular canal dehiscence 31.9 COCH RTEL1
4 nonsyndromic deafness 30.7 CDH23 COCH GJB2 GJB3 GJB6 KCNQ4
5 sensorineural hearing loss 29.3 ATP6V1B1 CDH23 COCH GJB2 GJB3 GJB6
6 autoimmune inner ear disease 12.3
7 external ear disease 12.1
8 mastoiditis 11.0
9 otitis externa 11.0
10 adhesive otitis media 10.9
11 hypotrichosis-deafness syndrome 10.3 GJB2 GJB3
12 deafness, autosomal dominant 24 10.3 GJB2 GJB6
13 deafness, autosomal recessive 93 10.3 GJB2 GJB3
14 deafness, autosomal recessive 9 10.3 GJB2 OTOF
15 knuckle pads, leukonychia, and sensorineural deafness 10.3 GJB2 GJB6
16 kid syndrome 10.3 GJB2 GJB3 GJB6
17 pseudoainhum 10.3 GJB2 GJB3 GJB6
18 deafness, autosomal recessive 3 10.3 GJB2 MYO15A MYO7A
19 knuckle pads 10.3 GJB2 GJB3 GJB6
20 deafness, autosomal recessive 28 10.3 GJB2 GJB3
21 erythrokeratodermia variabilis et progressiva 1 10.3 GJB2 GJB3 GJB6
22 drug-induced hearing loss 10.3 GJB2 GJB3 SLC26A4
23 deafness, x-linked 2 10.3 GJB2 GJB6 POU3F4
24 congenital cytomegalovirus 10.3 GJB2 GJB6 MT-RNR1
25 retinitis pigmentosa-deafness syndrome 10.3 CDH23 MYO7A
26 deafness, autosomal recessive 59 10.3 GJB2 OTOF
27 clouston syndrome 10.3 GJB2 GJB3 GJB6
28 deafness, autosomal recessive 7 10.3 GJB2 MT-RNR1 TMC1
29 deafness, autosomal dominant 22 10.3 COCH MYO15A MYO7A
30 deafness, autosomal recessive 12 10.3 CDH23 GJB2 MYO7A
31 usher syndrome, type ig 10.3 CDH23 MYO7A
32 auditory neuropathy spectrum disorder 10.3 MT-RNR1 MYO7A OTOF
33 auditory neuropathy, autosomal dominant, 1 10.3 GJB2 OTOF
34 vohwinkel syndrome 10.2 GJB2 GJB6
35 peripheral vertigo 10.2 COCH RTEL1 SLC26A4
36 usher syndrome, type ic 10.2 CDH23 MYO15A MYO7A
37 deafness, autosomal dominant 11 10.2 MYO15A MYO7A POU4F3
38 usher syndrome, type if 10.2 CDH23 MYO7A
39 deafness, autosomal recessive 1a 10.2 GJB2 GJB3 GJB6 OTOF
40 deafness, autosomal recessive 26 10.2 CDH23 GJB2 OTOF SLC26A4
41 dfnb1 10.2 GJB2 GJB6 MYO7A OTOF
42 keratitis, hereditary 10.2 GJB2 GJB6 TLR9
43 deafness, autosomal recessive 2 10.2 GJB2 MYO15A MYO7A OTOF
44 corneal disease 10.2 GJB2 GJB6 TLR9
45 deafness, autosomal dominant 36 10.2 GJB2 MT-RNR1 SLC26A4 TMC1
46 deafness, autosomal dominant 48 10.2 MYO15A MYO7A
47 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 GJB2 GJB3
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
49 deafness, autosomal recessive 23 10.2 CDH23 GJB2 GJB6 MYO7A SLC26A4
50 skin disease 10.2 GJB2 GJB3 GJB6 TLR9

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:


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

MGI Mouse Phenotypes related to Auditory System Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ATP6V1B1 CDH23 GJB6 HSPA4 MYO15A MYO7A
2 hearing/vestibular/ear MP:0005377 9.8 ATP6V1B1 CDH23 COCH GJB2 GJB6 KCNQ4
3 nervous system MP:0003631 9.5 ATP6V1B1 CDH23 GJB2 GJB6 HSPA4 KCNQ4

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, Eye, Thyroid

Publications for Auditory System Disease

Articles related to Auditory System Disease:

(show top 50) (show all 88)
# Title Authors Year
1
Clinical Study on Middle Ear Diseases in Children with Orofacial Clefts. ( 29644162 )
2018
2
Screening of genes associated with inflammatory responses in the endolymphatic sac reveals underlying mechanisms for autoimmune inner ear diseases. ( 30210597 )
2018
3
Zebrafish models of human eye and inner ear diseases. ( 28129854 )
2017
4
Recent advances in therapeutics and drug delivery for the treatment of inner ear diseases: a patent review (2011-2015). ( 27855527 )
2017
5
Chronological changes in microbial profiles in external and middle ear diseases: a 20-year study in Korea. ( 27878589 )
2017
6
Role of CT Mastoids in the Diagnosis and Surgical Management of Chronic Inflammatory Ear Diseases. ( 28239591 )
2017
7
Finite element analysis of auditory characteristics in patients with middle ear diseases. ( 28498081 )
2017
8
Ear diseases and factors associated with ear infections among the elderly attending hospital in Arar city, Northern Saudi Arabia. ( 29038714 )
2017
9
Nanomedicine for Inner Ear Diseases: A Review of Recent In Vivo Studies. ( 29130038 )
2017
10
Chronic cerebrospinal venous insufficiency as a cause of inner ear diseases. ( 27846752 )
2016
11
Usefulness of multislice-CT using multiplanar reconstruction in the preoperative assessment of the ossicular lesions in the middle ear diseases. ( 26386497 )
2016
12
Surgical Management of Ear Diseases in Rabbits. ( 26611929 )
2016
13
Prevalence of ear diseases in the children of Delhi. ( 25883066 )
2015
14
Profile of ear diseases among elderly patients in Sagamu, south-western Nigeria. ( 23829127 )
2013
15
Association of smoking or tobacco use with ear diseases among men: a retrospective study. ( 22471960 )
2012
16
External and middle ear diseases: radiological diagnosis based on clinical signs and symptoms. ( 22695997 )
2012
17
Ear diseases and other risk factors for hearing impairment among adults: an epidemiological study. ( 22934931 )
2012
18
The prevalence of middle ear diseases among 7- to 13-year-old primary school students in Yozgat province. ( 23427512 )
2012
19
Ear diseases among secondary school students in Xi'an, China: the role of portable audio device use, insomnia and academic stress. ( 21649930 )
2011
20
Frequency-specific hearing results after surgery for chronic ear diseases. ( 21949578 )
2011
21
Ear diseases in children presenting at Nepal Medical College Teaching Hospital. ( 22808806 )
2011
22
Nanotechnology and the treatment of inner ear diseases. ( 25363748 )
2011
23
Communication routes between intracranial spaces and inner ear: function, pathophysiologic importance and relations with inner ear diseases. ( 19410125 )
2009
24
Pattern of ear diseases in rural school children: experiences of free health camps in Nepal. ( 19560217 )
2009
25
Auditory function in women with autoimmune inner ear diseases and their offspring. ( 19804914 )
2009
26
The evaluation of the tensor veli palatini muscle function with electromyography in chronic middle ear diseases. ( 17851675 )
2008
27
Viral etiology for inner ear diseases: proven, unproven, unlikely. ( 18235205 )
2008
28
Influence of chronic middle ear diseases on gustatory function: an electrogustometric study. ( 17195745 )
2007
29
How to reliably evaluate middle ear diseases? Comparison of different methods of post-processing based on multislice computed tomography examination. ( 17364362 )
2007
30
Antibodies to myelin protein zero (P0) protein as markers of auto-immune inner ear diseases. ( 17453719 )
2007
31
A comparative evaluation of ear diseases in children of higher versus lower socioeconomic status. ( 16375776 )
2006
32
Intratympanic steroid therapy for inner ear diseases, a review of the literature. ( 16724210 )
2006
33
Ear diseases in elderly hospital patients in Nigeria. ( 15860483 )
2005
34
Self-curing controlled release systems for steroids. Application of prednisolone-based polymeric systems to ear diseases. ( 15603826 )
2005
35
Cell therapy for inner ear diseases. ( 15853667 )
2005
36
Gustatory function in chronic inflammatory middle ear diseases. ( 15933535 )
2005
37
Round-window anatomical considerations in intratympanic drug therapy for inner-ear diseases. ( 16419685 )
2005
38
Application of cell therapy to inner ear diseases. ( 15078068 )
2004
39
Review of diagnostic imaging of ear diseases in the dog and cat. ( 12718347 )
2003
40
Clinical experience with caroverine in inner ear diseases. ( 11885656 )
2002
41
Hearing impairment and ear diseases among children of school entry age in rural South India. ( 12049823 )
2002
42
Ear diseases and hearing in the Thai elderly population. Part I. A comparative study of the accuracy of diagnosis and treatment by general practitioners vs ENT specialists. ( 12188380 )
2002
43
Ear diseases and hearing in the Thai elderly population. part II. A one year follow-up study. ( 12188381 )
2002
44
COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases. ( 11568667 )
2001
45
Inner ear autoantibodies and their targets in patients with autoimmune inner ear diseases. ( 11270490 )
2001
46
What inner ear diseases cause benign paroxysmal positional vertigo? ( 10894413 )
2000
47
Use of ototopical antibiotics in treating 3 common ear diseases. ( 10828818 )
2000
48
What you need to know--hearing loss and inner ear diseases--can they be cured? ( 10361491 )
1999
49
Influence of the gas exchange function through the middle ear mucosa on the development of sniff-induced middle ear diseases. ( 9591546 )
1998
50
Clinical applicability of the sweep frequency measuring apparatus for diagnosis of middle ear diseases. ( 9657598 )
1998

Variations for Auditory System Disease

ClinVar genetic disease variations for Auditory System Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 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 9.55 ATP6V1B1 GJB6 MYO7A SLC26A4 TLR9
2 stereocilium GO:0032420 9.43 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:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.55 ATP6V1B1 KCNQ4 MYO15A MYO7A POU4F3
2 inner ear receptor cell stereocilium organization GO:0060122 9.48 CDH23 MYO7A
3 sensory perception of sound GO:0007605 9.47 ATP6V1B1 CDH23 COCH GJB2 GJB6 KCNQ4
4 regulation of pH GO:0006885 9.46 ATP6V1B1 SLC26A4
5 sensory perception of light stimulus GO:0050953 9.43 CDH23 MYO7A
6 cell communication GO:0007154 9.43 GJB2 GJB3 GJB6
7 inner ear auditory receptor cell differentiation GO:0042491 9.4 MYO7A POU4F3
8 inner ear receptor cell differentiation GO:0060113 9.37 MYO7A POU4F3
9 inner ear development GO:0048839 9.35 GJB2 GJB6 MYO7A POU3F4 POU4F3
10 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 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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