MCID: CCH001
MIFTS: 26

Cochlear Disease

Categories: Ear diseases

Aliases & Classifications for Cochlear Disease

MalaCards integrated aliases for Cochlear Disease:

Name: Cochlear Disease 12 15
Cochlear Diseases 43 71

Classifications:



External Ids:

Disease Ontology 12 DOID:5463
MeSH 43 D015834
UMLS 71 C0009197

Summaries for Cochlear Disease

MalaCards based summary : Cochlear Disease, also known as cochlear diseases, is related to goldberg-shprintzen syndrome and intestinal obstruction. An important gene associated with Cochlear Disease is EDN3 (Endothelin 3), and among its related pathways/superpathways are Endothelins and Endothelin Pathways. Affiliated tissues include brain, and related phenotypes are digestive/alimentary and nervous system

Wikipedia : 74 The cochlea is the part of the inner ear involved in hearing. It is a spiral-shaped cavity in the bony... more...

Related Diseases for Cochlear Disease

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 goldberg-shprintzen syndrome 10.0 EDNRB EDN3
2 intestinal obstruction 9.9 EDNRB EDN3
3 intracranial berry aneurysm 9.9 EDNRB EDN3 CERK
4 vestibular disease 9.8 SLC26A4 RTEL1
5 waardenburg syndrome, type 2b 9.8 SOX10 EDN3
6 peripheral vertigo 9.8 SLC26A4 RTEL1
7 intestinal pseudo-obstruction 9.7 SOX10 EDN3
8 waardenburg syndrome, type 2d 9.7 SOX10 EDNRB
9 waardenburg syndrome, type 2a 9.7 SOX10 EDNRB
10 autoimmune disease 9.7
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
12 glomerulonephritis 9.7
13 inner ear disease 9.7
14 waardenburg syndrome type 4 9.6 SOX10 EDNRB EDN3
15 waardenburg syndrome, type 2c 9.6 SOX10 EDNRB EDN3
16 waardenburg syndrome, type 4c 9.6 SOX10 EDNRB EDN3
17 waardenburg syndrome, type 2e 9.6 SOX10 EDNRB EDN3
18 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.6 SOX10 EDNRB EDN3
19 waardenburg syndrome, type 3 9.6 SOX10 EDNRB EDN3
20 tietz albinism-deafness syndrome 9.6 SOX10 EDNRB EDN3
21 waardenburg syndrome, type 4a 9.6 SOX10 EDNRB EDN3
22 waardenburg syndrome, type 1 9.6 SOX10 EDNRB EDN3
23 auditory system disease 9.5 SLC26A4 RTEL1
24 piebald trait 9.5 SOX10 EDNRB EDN3
25 rare genetic deafness 9.4 SOX10 SLC26A4 EDNRB
26 waardenburg's syndrome 9.3 SOX10 SLC26A4 EDNRB EDN3
27 waardenburg syndrome, type 4b 9.2 SOX10 EDNRB EDN3 ECE1
28 megacolon 9.1 SOX10 EDNRB EDN3 ECE1
29 central hypoventilation syndrome, congenital 9.1 SOX10 EDNRB EDN3 ECE1
30 hirschsprung disease 1 9.1 SOX10 EDNRB EDN3 ECE1

Graphical network of the top 20 diseases related to Cochlear Disease:



Diseases related to Cochlear Disease

Symptoms & Phenotypes for Cochlear Disease

MGI Mouse Phenotypes related to Cochlear Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.63 CERK ECE1 EDN3 EDNRB SLC26A4 SOX10
2 nervous system MP:0003631 9.5 CX3CL1 ECE1 EDN3 EDNRB RTEL1 SLC26A4
3 pigmentation MP:0001186 9.02 ECE1 EDN3 EDNRB SLC26A4 SOX10

Drugs & Therapeutics for Cochlear Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Effect of a Visio-Hearing Training Protocol on Spatial Hearing in Subjects With Hearing Loss Not yet recruiting NCT04183348
2 Remote Monitoring Applied to Cochlear Implant Patient Follow-up (TELESURVIC) Not yet recruiting NCT03874533

Search NIH Clinical Center for Cochlear Disease

Cochrane evidence based reviews: cochlear diseases

Genetic Tests for Cochlear Disease

Anatomical Context for Cochlear Disease

MalaCards organs/tissues related to Cochlear Disease:

40
Brain

Publications for Cochlear Disease

Articles related to Cochlear Disease:

(show all 35)
# Title Authors PMID Year
1
Innovative pharmaceutical approaches for the management of inner ear disorders. 61
28462501 2018
2
Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss. 61
28052261 2017
3
Ceramide-1-phosphate protection of cochlear hair cells against cisplatin ototoxicity. 61
28959567 2016
4
IL-10/HMOX1 signaling modulates cochlear inflammation via negative regulation of MCP-1/CCL2 expression in cochlear fibrocytes. 61
25780042 2015
5
Role of PGE-type receptor 4 in auditory function and noise-induced hearing loss in mice. 61
22198478 2012
6
Hyperbaric oxygen upregulates cochlear constitutive nitric oxide synthase. 61
21342510 2011
7
Volumetric Imaging of Blood Flow within Cochlea in Gerbil in vivo. 61
20495618 2009
8
CT grading of otosclerosis. 61
19321627 2009
9
Recording of electrically evoked auditory brainstem responses (E-ABR) with an integrated stimulus generator in Matlab. 61
18621081 2008
10
Diffraction enhanced X-ray imaging for observing guinea pig cochlea. 61
17281550 2005
11
Two types of afferent terminals innervate cochlear inner hair cells in C57BL/6J mice. 61
15246854 2004
12
Auditory brainstem implant in posttraumatic cochlear nerve avulsion. 61
15205552 2004
13
Cochlear changes in chronic otitis media. 61
15064614 2004
14
Tumor necrosis factor-alpha, an initiator, and etanercept, an inhibitor of cochlear inflammation. 61
12352677 2002
15
Female MRL.MpJ-Fas(lpr) autoimmune mice have greater hearing loss than males. 61
12117539 2002
16
Hyperacusis in Williams syndrome. 61
11770962 2001
17
Facioscapulohumeral muscular dystrophy. 61
10590886 1999
18
Effects of immunosuppression on the development of cochlear disease in the MRL-Fas(lpr) mouse. 61
10201753 1999
19
Viral-mediated gene transfer in the cochlea. 61
9263034 1997
20
Otoneurologic evaluation of child vertigo. 61
9225179 1997
21
Chemical synaptic transmission in the cochlea. 61
8787031 1995
22
Composite probability modelling of increasing resolution where diagnostic covariates are unmeasurable for some subjects. 61
7501778 1995
23
Impaired word recognition in noise by patients with noise-induced cochlear hearing loss: contribution of temporal resolution defect. 61
8572072 1994
24
Low-frequency sensorineural loss: clinical evaluation and implications for hearing aid fitting. 61
8194681 1994
25
[Preoperative vestibular diagnosis in therapy of Menière's disease]. 61
1612933 1992
26
Distortion product emissions in humans. III. Influence of sensorineural hearing loss. 61
2110798 1990
27
[Acoustic oto-emissions. Clinical uses]. 61
2240998 1990
28
Clinical applications of evoked acoustic emissions: results in normally hearing and hearing-impaired subjects. 61
2719448 1989
29
A new technique for interpreting the BAER in cochlear disease. 61
3377442 1988
30
Recent advances in cochlear blood flow measurements. 61
2963574 1988
31
Retrograde cochlear neuronal degeneration in human subjects. 61
3207012 1988
32
Clinical trial of a multi-channel cochlear prosthesis: results on 10 postlingually deaf patients. 61
6393936 1984
33
Screening procedure for detection of middle ear and cochlear disease. 61
6778310 1980
34
Auditory brain stem responses in patients with acoustic neuromas. 61
756083 1978
35
[THE "ALIMINAL" METHOD IN POSTTRAUMATIC COCHLEAR DISEASES]. 61
14340406 1964

Variations for Cochlear Disease

Expression for Cochlear Disease

Search GEO for disease gene expression data for Cochlear Disease.

Pathways for Cochlear Disease

Pathways related to Cochlear Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.88 EDNRB EDN3
2 10.49 EDNRB ECE1
3 10.13 ECE1 CX3CL1

GO Terms for Cochlear Disease

Biological processes related to Cochlear Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neutrophil chemotaxis GO:0030593 9.51 EDN3 CX3CL1
2 peripheral nervous system development GO:0007422 9.49 SOX10 EDNRB
3 regulation of vasoconstriction GO:0019229 9.48 EDN3 ECE1
4 positive regulation of neuroblast proliferation GO:0002052 9.46 SOX10 CX3CL1
5 regulation of pH GO:0006885 9.43 SLC26A4 EDNRB
6 vasoconstriction GO:0042310 9.4 EDNRB EDN3
7 enteric nervous system development GO:0048484 9.37 SOX10 EDNRB
8 macrophage chemotaxis GO:0048246 9.32 EDNRB CX3CL1
9 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.26 EDN3 ECE1
10 vein smooth muscle contraction GO:0014826 9.16 EDNRB EDN3
11 neural crest cell migration GO:0001755 9.13 SOX10 EDNRB EDN3
12 melanocyte differentiation GO:0030318 8.8 SOX10 EDNRB EDN3

Molecular functions related to Cochlear Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide hormone binding GO:0017046 8.62 EDNRB ECE1

Sources for Cochlear Disease

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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