MCID: CCH001
MIFTS: 31

Cochlear Disease

Categories: Ear diseases

Aliases & Classifications for Cochlear Disease

MalaCards integrated aliases for Cochlear Disease:

Name: Cochlear Disease 12 15
Cochlear Diseases 44 72

Classifications:



External Ids:

Disease Ontology 12 DOID:5463
MeSH 44 D015834
UMLS 72 C0009197

Summaries for Cochlear Disease

MalaCards based summary : Cochlear Disease, also known as cochlear diseases, is related to waardenburg syndrome, type 3 and waardenburg syndrome type 4. An important gene associated with Cochlear Disease is CERK (Ceramide Kinase), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Immune response IL-23 signaling pathway. Affiliated tissues include brain, and related phenotypes are digestive/alimentary and homeostasis/metabolism

Wikipedia : 75 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 32)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 3 10.4 SOX10 EDN3
2 waardenburg syndrome type 4 10.3 SOX10 EDNRB EDN3
3 nodular hidradenoma 10.3 PTGER4 KITLG
4 waardenburg syndrome, type 4a 10.3 SOX10 EDNRB EDN3
5 megacolon 10.3 SOX10 EDNRB EDN3
6 colonic disease 10.3 SOX10 EDNRB EDN3
7 bullous impetigo 10.2 EDNRB CALCA
8 impetigo 10.2 EDNRB CALCA
9 acute thyroiditis 10.2 NOS1 CALCA
10 gastric signet ring cell adenocarcinoma 10.2 SNAI2 GATA3
11 erythema elevatum diutinum 10.1 TNFRSF1B GATA3
12 hirschsprung disease 1 10.0 SOX10 NOS1 EDNRB EDN3
13 constipation 10.0 EDNRB EDN3 CALCA
14 cutaneous solitary mastocytoma 10.0 PDYN KITLG
15 waardenburg syndrome, type 4b 10.0 SOX10 SNAI2 EDNRB EDN3
16 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 SOX10 SNAI2 EDNRB EDN3
17 waardenburg syndrome, type 2a 10.0 SOX10 SNAI2 EDNRB EDN3
18 waardenburg syndrome, type 1 10.0 SOX10 SNAI2 EDNRB EDN3
19 respiratory allergy 9.9 NOS3 NOS1 GATA3
20 waardenburg syndrome, type 2e 9.8 SOX10 SNAI2 KITLG EDNRB
21 bladder neck obstruction 9.7 TTR TNFRSF1B
22 amyloid tumor 9.7 TTR CALCA
23 purulent labyrinthitis 9.7 NOS3 CCL2
24 autoimmune disease 9.7
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
26 glomerulonephritis 9.7
27 inner ear disease 9.7
28 jejunoileitis 9.7 NOS3 NOS1
29 autonomic nervous system disease 9.7 TTR EDNRB CALCA
30 waardenburg's syndrome 9.6 SOX10 SNAI2 KITLG EDNRB EDN3
31 autosomal dominant polycystic kidney disease 9.4 NOS3 EDNRB CCL2
32 acquired metabolic disease 9.2 TTR NOS3 CCL2

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:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.37 CERK EDN3 EDNRB GATA3 IL10RA KITLG
2 homeostasis/metabolism MP:0005376 10.3 CERK EDNRB GATA3 IL10RA KITLG NOS1
3 behavior/neurological MP:0005386 10.29 CERK EDN3 EDNRB NOS1 NOS3 PDYN
4 immune system MP:0005387 10.21 CCL2 CERK EDNRB GATA3 IL10RA KITLG
5 cardiovascular system MP:0005385 10.19 EDNRB GATA3 KITLG NOS1 NOS3 PTGER4
6 growth/size/body region MP:0005378 10.19 CERK EDNRB GATA3 KITLG NOS1 NOS3
7 hematopoietic system MP:0005397 10.18 CERK EDNRB GATA3 IL10RA KITLG NOS1
8 endocrine/exocrine gland MP:0005379 10.16 EDNRB GATA3 KITLG NOS1 NOS3 SLC26A4
9 mortality/aging MP:0010768 10.11 CERK EDN3 EDNRB GATA3 KITLG NOS1
10 integument MP:0010771 10.06 EDN3 EDNRB GATA3 KITLG PDYN PTGER4
11 nervous system MP:0003631 10.06 EDN3 EDNRB GATA3 KITLG NOS1 NOS3
12 pigmentation MP:0001186 9.8 EDN3 EDNRB GATA3 KITLG SLC26A4 SNAI2
13 renal/urinary system MP:0005367 9.7 EDNRB GATA3 NOS1 NOS3 SLC26A4 TNFRSF1B
14 skeleton MP:0005390 9.65 EDNRB GATA3 KITLG NOS1 NOS3 PDYN
15 vision/eye MP:0005391 9.23 EDNRB GATA3 KITLG NOS1 NOS3 SNAI2

Drugs & Therapeutics for Cochlear Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

41
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. 38
28462501 2018
2
Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss. 38
28052261 2017
3
Ceramide-1-phosphate protection of cochlear hair cells against cisplatin ototoxicity. 38
28959567 2016
4
IL-10/HMOX1 signaling modulates cochlear inflammation via negative regulation of MCP-1/CCL2 expression in cochlear fibrocytes. 38
25780042 2015
5
Role of PGE-type receptor 4 in auditory function and noise-induced hearing loss in mice. 38
22198478 2012
6
Hyperbaric oxygen upregulates cochlear constitutive nitric oxide synthase. 38
21342510 2011
7
Volumetric Imaging of Blood Flow within Cochlea in Gerbil in vivo. 38
20495618 2009
8
CT grading of otosclerosis. 38
19321627 2009
9
Recording of electrically evoked auditory brainstem responses (E-ABR) with an integrated stimulus generator in Matlab. 38
18621081 2008
10
Diffraction enhanced X-ray imaging for observing guinea pig cochlea. 38
17281550 2005
11
Two types of afferent terminals innervate cochlear inner hair cells in C57BL/6J mice. 38
15246854 2004
12
Auditory brainstem implant in posttraumatic cochlear nerve avulsion. 38
15205552 2004
13
Cochlear changes in chronic otitis media. 38
15064614 2004
14
Tumor necrosis factor-alpha, an initiator, and etanercept, an inhibitor of cochlear inflammation. 38
12352677 2002
15
Female MRL.MpJ-Fas(lpr) autoimmune mice have greater hearing loss than males. 38
12117539 2002
16
Hyperacusis in Williams syndrome. 38
11770962 2001
17
Facioscapulohumeral muscular dystrophy. 38
10590886 1999
18
Effects of immunosuppression on the development of cochlear disease in the MRL-Fas(lpr) mouse. 38
10201753 1999
19
Viral-mediated gene transfer in the cochlea. 38
9263034 1997
20
Otoneurologic evaluation of child vertigo. 38
9225179 1997
21
Chemical synaptic transmission in the cochlea. 38
8787031 1995
22
Composite probability modelling of increasing resolution where diagnostic covariates are unmeasurable for some subjects. 38
7501778 1995
23
Impaired word recognition in noise by patients with noise-induced cochlear hearing loss: contribution of temporal resolution defect. 38
8572072 1994
24
Low-frequency sensorineural loss: clinical evaluation and implications for hearing aid fitting. 38
8194681 1994
25
[Preoperative vestibular diagnosis in therapy of Menière's disease]. 38
1612933 1992
26
Distortion product emissions in humans. III. Influence of sensorineural hearing loss. 38
2110798 1990
27
[Acoustic oto-emissions. Clinical uses]. 38
2240998 1990
28
Clinical applications of evoked acoustic emissions: results in normally hearing and hearing-impaired subjects. 38
2719448 1989
29
A new technique for interpreting the BAER in cochlear disease. 38
3377442 1988
30
Recent advances in cochlear blood flow measurements. 38
2963574 1988
31
Retrograde cochlear neuronal degeneration in human subjects. 38
3207012 1988
32
Clinical trial of a multi-channel cochlear prosthesis: results on 10 postlingually deaf patients. 38
6393936 1984
33
Screening procedure for detection of middle ear and cochlear disease. 38
6778310 1980
34
Auditory brain stem responses in patients with acoustic neuromas. 38
756083 1978
35
[THE "ALIMINAL" METHOD IN POSTTRAUMATIC COCHLEAR DISEASES]. 38
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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 TNFRSF1B NOS3 KITLG EDNRB EDN3
2
Show member pathways
12.29 NOS3 NOS1 IL10RA CCL2
3 12.22 TNFRSF1B KITLG GATA3 CCL2
4
Show member pathways
12.22 TNFRSF1B PDYN NOS1 GATA3
5
Show member pathways
11.81 TNFRSF1B KITLG IL10RA CCL2
6 11.73 PDYN NOS1 CCL2
7 11.67 TNFRSF1B GATA3 CCL2
8 11.02 TNFRSF1B IL10RA CCL2
9
Show member pathways
10.95 NOS3 NOS1
10 10.9 NOS3 NOS1
11 10.66 NOS3 EDNRB CALCA
12 10.48 NOS3 NOS1
13 10.25 PTGER4 NOS3 NOS1
14 10.16 NOS3 NOS1

GO Terms for Cochlear Disease

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.89 TNFRSF1B IL10RA GATA3 CCL2
2 cell surface receptor signaling pathway GO:0007166 9.86 TNFRSF1B EDNRB EDN3 CCL2
3 inflammatory response GO:0006954 9.83 TNFRSF1B PTGER4 CCL2
4 negative regulation of inflammatory response GO:0050728 9.78 TNFRSF1B PTGER4 GATA3
5 regulation of blood pressure GO:0008217 9.7 NOS3 EDNRB CALCA
6 cellular response to tumor necrosis factor GO:0071356 9.65 GATA3 CCL2
7 regulation of pH GO:0006885 9.65 SLC26A4 EDNRB
8 regulation of sodium ion transport GO:0002028 9.64 NOS3 NOS1
9 positive regulation of histone acetylation GO:0035066 9.64 SNAI2 NOS1
10 regulation of blood vessel size GO:0050880 9.63 NOS3 EDN3
11 nitric oxide mediated signal transduction GO:0007263 9.62 NOS3 NOS1
12 vasoconstriction GO:0042310 9.62 EDNRB EDN3
13 embryonic hemopoiesis GO:0035162 9.61 KITLG GATA3
14 negative regulation of calcium ion transport GO:0051926 9.6 NOS3 NOS1
15 nitric oxide biosynthetic process GO:0006809 9.58 NOS3 NOS1
16 macrophage chemotaxis GO:0048246 9.58 EDNRB CCL2
17 enteric nervous system development GO:0048484 9.57 SOX10 EDNRB
18 positive regulation of guanylate cyclase activity GO:0031284 9.55 NOS3 NOS1
19 negative regulation of potassium ion transport GO:0043267 9.54 NOS3 NOS1
20 negative regulation of hydrolase activity GO:0051346 9.51 NOS3 NOS1
21 aortic valve morphogenesis GO:0003180 9.5 SNAI2 NOS3 GATA3
22 arginine catabolic process GO:0006527 9.49 NOS3 NOS1
23 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.48 NOS3 EDN3
24 response to heat GO:0009408 9.46 NOS3 NOS1
25 neural crest cell migration GO:0001755 9.46 SOX10 KITLG EDNRB EDN3
26 negative regulation of calcium ion transport into cytosol GO:0010523 9.43 NOS1 CALCA
27 melanocyte differentiation GO:0030318 9.43 SOX10 EDNRB EDN3
28 response to lipopolysaccharide GO:0032496 9.43 TNFRSF1B PTGER4 NOS3 NOS1 IL10RA EDNRB
29 vein smooth muscle contraction GO:0014826 9.4 EDNRB EDN3
30 negative regulation of blood pressure GO:0045776 9.37 NOS3 NOS1
31 response to pain GO:0048265 9.35 EDNRB
32 vasodilation GO:0042311 8.8 NOS3 NOS1 EDNRB
33 G protein-coupled receptor signaling pathway GO:0007186 10.11 PTGER4 PDYN EDNRB EDN3 CCL2 CALCA

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.58 TTR EDN3 CALCA
2 FMN binding GO:0010181 9.37 NOS3 NOS1
3 arginine binding GO:0034618 9.32 NOS3 NOS1
4 NADPH-hemoprotein reductase activity GO:0003958 9.26 NOS3 NOS1
5 cadmium ion binding GO:0046870 9.16 NOS3 NOS1
6 tetrahydrobiopterin binding GO:0034617 8.96 NOS3 NOS1
7 nitric-oxide synthase activity GO:0004517 8.62 NOS3 NOS1

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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