Aliases & Classifications for Inner Ear Disease

MalaCards integrated aliases for Inner Ear Disease:

Name: Inner Ear Disease 12 15 17
Labyrinthine Dysfunction 12 15 70 32
Diseases of Inner Ear 70 32
Abnormality of the Inner Ear 6
Labyrinthine Disorder 70
Labyrinthine Disease 12
Labyrinth Diseases 44

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


External Ids:

Disease Ontology 12 DOID:2952 DOID:566
ICD9CM 34 386.5
MeSH 44 D007759
UMLS 70 C0022890 C0155514 C0494559

Summaries for Inner Ear Disease

MalaCards based summary : Inner Ear Disease, also known as labyrinthine dysfunction, is related to autoimmune inner ear disease and vestibular disease, and has symptoms including vertigo and earache. An important gene associated with Inner Ear Disease is BRF1 (BRF1 RNA Polymerase III Transcription Initiation Factor Subunit), and among its related pathways/superpathways are MAPK signaling pathway and DREAM Repression and Dynorphin Expression. The drugs Methotrexate and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and eye, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 73 The inner ear (internal ear, auris interna) is the innermost part of the vertebrate ear. In vertebrates,... more...

Related Diseases for Inner Ear Disease

Diseases in the Inner Ear Disease family:

Autoimmune Inner Ear Disease

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 autoimmune inner ear disease 33.1 TNF TIMP1 MPO MMP9
2 vestibular disease 32.7 SLC26A4 MYO7A GJB2 FOXI1
3 sensorineural hearing loss 32.3 TNF SLC26A4 SLC12A2 MYO7A GJB2 BRF1
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 31.8 MYO7A MIR96 GJB2
5 branchiootic syndrome 1 31.4 SLC26A4 MYO7A GJB2
6 meniere disease 31.3 SLC26A4 MYO7A GJB2 AQP6
7 auditory system disease 31.2 SLC26A4 MYO7A MIR96 GJB2 FOXI1 ERCC6
8 labyrinthitis 30.8 SLC26A4 MYO7A GJB2
9 otodental dysplasia 30.7 FGF3 FADD
10 scleritis 30.6 TNF MPO MMP9
11 migraine with or without aura 1 30.4 TNF S100B CACNA1E CACNA1A
12 bilateral hyperactive labyrinth 11.3
13 unilateral hyperactive labyrinth 11.3
14 bilateral hypoactive labyrinth 11.3
15 mondini dysplasia 11.2
16 unilateral hypoactive labyrinth 11.1
17 superior semicircular canal dehiscence 11.0
18 aland island eye disease 10.7
19 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 10.5 SLC26A4 FOXI1
20 decubitus ulcer 10.5 TNF TIMP1 MMP9
21 lentigo maligna melanoma 10.5 TIMP1 S100B MMP9
22 collagenous colitis 10.5 TIMP1 MPO MMP9
23 gingival disease 10.5 TNF TIMP1 MMP9
24 viral labyrinthitis 10.5 GJB2 AQP6
25 appendicitis 10.5 TNF MPO MMP9
26 oral submucous fibrosis 10.5 TNF TIMP1 MMP9
27 fungal keratitis 10.5 TIMP1 MMP9
28 systolic heart failure 10.5 TNF TIMP1 MMP9
29 cryptogenic organizing pneumonia 10.5 TNF TIMP1 MPO MMP9
30 autosomal recessive nonsyndromic deafness 3 10.5 SLC26A4 MYO7A GJB2
31 drug-induced hearing loss 10.5 SLC26A4 MYO7A GJB2
32 bronchiolitis obliterans 10.5 TNF TIMP1 MPO MMP9
33 deafness, autosomal dominant 6 10.5 SLC26A4 MYO7A GJB2
34 gingivitis 10.5 TNF TIMP1 MPO MMP9
35 pyelonephritis 10.5 TNF TIMP1 MMP9
36 deafness, autosomal recessive 7 10.5 SLC26A4 MYO7A GJB2
37 preterm premature rupture of the membranes 10.5 TNF TIMP1 MMP9
38 deafness, autosomal dominant 9 10.5 SLC26A4 MYO7A GJB2
39 deafness, autosomal recessive 2 10.5 SLC26A4 MYO7A GJB2
40 peripheral vertigo 10.5 SLC26A4 MYO7A GJB2
41 deafness, autosomal recessive 9 10.5 SLC26A4 MYO7A GJB2
42 conjunctivitis 10.5 TNF MPO MMP9
43 carotid stenosis 10.5 TNF S100B MPO MMP9
44 deafness, autosomal recessive 1a 10.5 SLC26A4 MYO7A GJB2
45 proteasome-associated autoinflammatory syndrome 1 10.5 TNF MPO MMP9
46 varicose veins 10.5 TNF TIMP1 MMP9
47 bacterial meningitis 10.5 TNF TIMP1 S100B MMP9
48 jejunoileitis 10.5 TNF S100B
49 primary progressive multiple sclerosis 10.5 TNF TIMP1 S100B MMP9
50 middle ear disease 10.5 TNF MPO MIR96 GJB2

Comorbidity relations with Inner Ear Disease via Phenotypic Disease Network (PDN):


Hypertension, Essential Labyrinthitis
Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Inner Ear Disease:



Diseases related to Inner Ear Disease

Symptoms & Phenotypes for Inner Ear Disease

UMLS symptoms related to Inner Ear Disease:


vertigo; earache

MGI Mouse Phenotypes related to Inner Ear Disease:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 AQP1 AQP6 BRF1 CACNA1A CACNA1D CACNA1E
2 growth/size/body region MP:0005378 10.35 AQP1 BRF1 CACNA1A CACNA1D CACNA1E ERCC6
3 behavior/neurological MP:0005386 10.34 AQP1 CACNA1A CACNA1D CACNA1E ERCC6 FGF3
4 cellular MP:0005384 10.25 BRF1 CACNA1A CACNA1D ERCC6 FADD FOXI1
5 immune system MP:0005387 10.22 AQP1 BRF1 CACNA1A ERCC6 FADD FGF3
6 mortality/aging MP:0010768 10.21 AQP1 BRF1 CACNA1A CACNA1D ERCC6 FADD
7 endocrine/exocrine gland MP:0005379 10.19 AQP1 BRF1 CACNA1A CACNA1D CACNA1E FADD
8 nervous system MP:0003631 10.17 AQP1 CACNA1A CACNA1D CACNA1E ERCC6 FADD
9 hearing/vestibular/ear MP:0005377 10.11 AQP1 CACNA1D ERCC6 FGF3 FOXI1 GJB2
10 reproductive system MP:0005389 9.93 AQP1 CACNA1A FADD FGF3 FOXI1 GJB2
11 no phenotypic analysis MP:0003012 9.8 AQP6 CACNA1A FADD FGF3 GJB2 MYO7A
12 skeleton MP:0005390 9.65 ERCC6 FADD FGF3 FOXI1 GJB2 MMP9
13 vision/eye MP:0005391 9.28 AQP1 AQP6 CACNA1A ERCC6 FGF3 GJB2

Drugs & Therapeutics for Inner Ear Disease

Drugs for Inner Ear Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
2
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
3
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
6 Antirheumatic Agents Phase 3
7 Vitamin B9 Phase 3
8 Antimetabolites Phase 3
9 Folic Acid Antagonists Phase 3
10 Immunosuppressive Agents Phase 3
11 Vitamin B Complex Phase 3
12 Immunologic Factors Phase 3
13 Dermatologic Agents Phase 3
14 Folate Phase 3
15 Pharmaceutical Solutions Phase 2
16 Interleukin 1 Receptor Antagonist Protein Phase 2
17
Zinc Approved, Investigational 7440-66-6 32051
18 Gentamicins

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
2 An Open-label Study of the Effects of Gevokizumab in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01950312 Phase 2 gevokizumab
3 A Phase I/II Open-label Study of the Effects of Anakinra in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01267994 Phase 1, Phase 2 Anakinra
4 A Phase II Placebo Controlled Study of the Effects of Anakinra (Kineret) in Subjects With Corticosteroid-Resistant Meniere's Disease (CR-MD) and Corticosteroid-Resistant Autoimmune Inner Ear Disease Disease (CR-AIED) Recruiting NCT03587701 Phase 2 Anakinra 100Mg/0.67Ml Inj Syringe (Period 1);Placebo injection (Period 1);Anakinra 100Mg/0.67Ml Inj Syringe (Period 2);Placebo injection (Period 2)
5 Safety and Efficacy of Intratympanically Delivered Golimumab for Stabilization of Hearing in Patients With Autoimmune Inner Ear Disease: An Open-label Proof-of-concept Clinical Trial Terminated NCT01526174 Phase 1, Phase 2 Golimumab
6 A Randomised Double Blind, Multiple Dose, Pharmacokinetic and Safety Study of SENS 401 in Healthy Subjects Completed NCT03071003 Phase 1 SENS-401;Placebo
7 An Open-label, Single-dose, Pharmacokinetic Study of SENS-218 in Healthy Adult, Caucasian Subjects. Completed NCT02772796 Phase 1 SENS-218
8 Unilateral Peripheral Vestibular Dysfunction: Reeducation and Spatial Orientation. Completed NCT03171181
9 Clinical Trial Evaluation of a Sensory Enrichment Multimodal Device (SEMD) on Physical Therapy Patients With Disequilibrium Completed NCT01483937
10 Effectiveness of Osteopathic Manipulative Treatment (OMT) and Vestibular Rehabilitation Therapy (VRT) Alone or in Combination on Balance and Visual Function in Individuals With Vertigo and Somatic Dysfunction Completed NCT01529151
11 First-in-Human Early Feasibility Study of Safety, Tolerability and Efficacy for a Multichannel Vestibular Implant in Individuals With Bilateral Severe-to-Profound Loss of Vestibular Sensation Recruiting NCT02725463
12 Comparison of Imaging Quality Between Spectral Photon Counting Computed Tomography (SPCCT) and Dual Energy Computed Tomography (DECT) Recruiting NCT04328181
13 Deep Phenotyping of Hearing Instability Disorders: Cohort Establishment, Biomarker Identification, Development of Novel Phenotyping Measures, and Discovery of Therapeutic Targets Recruiting NCT04806282

Search NIH Clinical Center for Inner Ear Disease

Cochrane evidence based reviews: labyrinth diseases

Genetic Tests for Inner Ear Disease

Anatomical Context for Inner Ear Disease

MalaCards organs/tissues related to Inner Ear Disease:

40
Bone, Brain, Eye, Smooth Muscle, Kidney, Liver, Thyroid

Publications for Inner Ear Disease

Articles related to Inner Ear Disease:

(show top 50) (show all 480)
# Title Authors PMID Year
1
The Pathogenesis of secondary forms of Autoimmune Inner Ear Disease (AIED): advancing beyond the audiogram data. 61
33476250 2021
2
The relationship between nutrition and Ménière's disease. 61
33773852 2021
3
Association Between Serum Vitamin D Level and Ménière's Disease. 61
33755501 2021
4
Imaging of endolymphatic hydrops: A comprehensive update in primary and secondary hydropic ear disease. 61
33646188 2021
5
Autoimmune Inner Ear Disease among Patients with Selective IgA Deficiency. 61
33311024 2021
6
Cochlear Implantation as a Treatment for Sudden Autoimmune Sensorineural Hearing Loss in a Patient Affected by Eosinophilic Granulomatosis with Polyangiitis: A Case Report and A Review of Literature. 61
32613850 2021
7
Viewing the current situation of pig model application in China's medical field from the application and funding of NSFC. 61
33505448 2021
8
Autoimmune inner ear disease: A systematic review of management. 61
33364414 2020
9
Cerebellar gangliocytoma as a cause of fluctuating hearing loss. 61
33363852 2020
10
Efficacy of Low-Level Laser Therapy for Tinnitus: A Systematic Review with Meta-Analysis and Trial Sequential Analysis. 61
33276501 2020
11
Aetiology of Ludwig van Beethoven's hearing impairment: hypotheses over the past 100 years - A systematic review. 61
33230590 2020
12
Optical coherence tomography: current and future clinical applications in otology. 61
32833887 2020
13
Current status on researches of Meniere's disease: a review. 61
32564698 2020
14
Serum miRNA125a-5p, miR-125b-5p, and miR-433-5p as biomarkers to differentiate between posterior circulation stroke and peripheral vertigo. 61
33038923 2020
15
Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction. 61
32173115 2020
16
Unilateral autoimmune inner ear disease in a patient with lung cancer treated with nivolumab. 61
32995031 2020
17
Inner ear fluid-attenuated inversion recovery MRI signal intensity in dogs with vestibular disease. 61
32564460 2020
18
Expression of aquaporins in inner ear disease. 61
31593306 2020
19
The natural progression of low-frequency hearing loss in patients who meet hybrid implant system candidacy criteria. 61
31393603 2020
20
Cochlear Implant Performance in Adult Patients with Absent Intraoperative Electrically Evoked Compound Action Potentials. 61
32122228 2020
21
Autoimmune inner ear disease patient-associated 28-kDa proinflammatory IL-1β fragment results from caspase-7-mediated cleavage in vitro. 61
32051334 2020
22
On the Relationship Between Menière's Disease and Endolymphatic Hydrops. 61
31746815 2020
23
Anatomical and Functional Consequences of Microneedle Perforation of Round Window Membrane. 61
31789795 2020
24
An update on autoimmune inner ear disease: A systematic review of pharmacotherapy. 61
31733712 2020
25
Generation of inner ear organoids from human pluripotent stem cells. 61
32586448 2020
26
Regenerative Effect of a ROCK Inhibitor, Y-27632, on Excitotoxic Trauma in an Organotypic Culture of the Cochlea. 61
33328888 2020
27
Demystifying autoimmune inner ear disease. 61
31605190 2019
28
Pediatric Autoimmune Inner Ear Disease: A Rare, But Treatable Condition. 61
31609997 2019
29
Endolymphatic hydrops induced by different mechanisms responds differentially to spironolactone: a rationale for understanding the diversity of treatment responses in hydropic inner ear disease. 61
31145014 2019
30
miR‑10b‑3p, miR‑8112 and let‑7j as potential biomarkers for autoimmune inner ear diseases. 61
31115534 2019
31
Hepatic vasculitis mimicking multiple liver abscesses in Cogan's Syndrome. 61
31308353 2019
32
l-Thyroxine does not prevent immunemediated sensorineural hearing loss in autoimmune thyroid diseases. 61
30107874 2019
33
Using Machine Learning to Predict Sensorineural Hearing Loss Based on Perilymph Micro RNA Expression Profile. 61
30833669 2019
34
Immune-Mediated Inner Ear Disease: Diagnostic and therapeutic approaches. 61
29525415 2019
35
Inner ear pathologies impair sodium-regulated ion transport in Meniere's disease. 61
30390121 2019
36
Emerging options in immune-mediated hearing loss. 61
30828626 2019
37
Proteome of normal human perilymph and perilymph from people with disabling vertigo. 61
31185063 2019
38
Long-term outcomes of triple semicircular canal plugging for the treatment of intractable Meniere's disease: A single center experience of 361 cases. 61
31640108 2019
39
Fluctuating Sensorineural Hearing Loss. 61
31315108 2019
40
[Recent immunology research of Meniere's disease]. 61
30585012 2018
41
Azathioprine reduces the risk of audiometric relapse in immune-mediated hearing loss. 61
29502794 2018
42
Can positron emission tomography support the characterization of immune-mediated inner ear disease? 61
30032987 2018
43
Ear Involvement in Inflammatory Bowel Disease: A Review of the Literature. 61
29977417 2018
44
The Reliability and Validity of "Dokuz Eylül University Meniere's Disease Disability Scale". 61
29283101 2018
45
Feasibility of microRNA profiling in human inner ear perilymph. 61
29781875 2018
46
Evidence of surgical treatments for intractable Meniere's disease. 61
28760332 2018
47
Intratympanic gadolinium magnetic resonance imaging supports the role of endolymphatic hydrops in the pathogenesis of immune-mediated inner-ear disease. 61
29888688 2018
48
Imaging in autoimmune inner-ear disease and endolymphatic hydrops, bone cement for improving hearing outcomes in stapes surgery, and the reporting of results. External ear canal cholesteatoma: a hypothesis. 61
30019670 2018
49
The Clinician Faced With Anticochlear Antibodies: What to Do With Them? 61
29116948 2018
50
Autoimmune inner ear disease (AIED): A diagnostic challenge. 61
30376736 2018

Variations for Inner Ear Disease

ClinVar genetic disease variations for Inner Ear Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRF1 NM_001519.4(BRF1):c.654G>C (p.Trp218Cys) SNV Pathogenic 867234 rs1343140353 GRCh37: 14:105707642-105707642
GRCh38: 14:105241305-105241305

Expression for Inner Ear Disease

Search GEO for disease gene expression data for Inner Ear Disease.

Pathways for Inner Ear Disease

Pathways related to Inner Ear Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.5 TNF FGF3 CACNA1E CACNA1D CACNA1A
2
Show member pathways
12.36 TNF FADD CACNA1E CACNA1D CACNA1A
3 12.14 FGF3 CACNA1E CACNA1D CACNA1A
4
Show member pathways
11.65 TNF TIMP1 MMP9
5
Show member pathways
11.44 TNF CACNA1E CACNA1D CACNA1A
6 11.38 TNF TIMP1 MMP9
7 11.19 CACNA1E CACNA1D CACNA1A
8 11.11 TNF MPO MMP9
9 11.02 MMP9 CACNA1E CACNA1D CACNA1A
10 9.88 CACNA1E CACNA1D CACNA1A

GO Terms for Inner Ear Disease

Cellular components related to Inner Ear Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.35 SLC26A4 SLC12A2 MYO7A AQP6 AQP1
2 cell body GO:0044297 9.33 SLC12A2 GJB2 FADD
3 voltage-gated calcium channel complex GO:0005891 8.8 CACNA1E CACNA1D CACNA1A

Biological processes related to Inner Ear Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.67 TIMP1 SLC12A2 MPO GJB2
2 sensory perception of sound GO:0007605 9.56 SLC26A4 MYO7A GJB2 CACNA1D
3 response to amyloid-beta GO:1904645 9.54 MMP9 CACNA1A
4 cellular response to UV-A GO:0071492 9.52 TIMP1 MMP9
5 negative regulation of vascular wound healing GO:0061044 9.51 TNF SLC12A2
6 hyperosmotic response GO:0006972 9.49 SLC12A2 AQP1
7 necroptotic signaling pathway GO:0097527 9.48 TNF FADD
8 ammonium transmembrane transport GO:0072488 9.46 SLC12A2 AQP1
9 death-inducing signaling complex assembly GO:0071550 9.43 TNF FADD
10 ammonium transport GO:0015696 9.4 SLC12A2 AQP1
11 calcium ion import GO:0070509 9.33 CACNA1E CACNA1D CACNA1A
12 carbon dioxide transport GO:0015670 9.32 AQP6 AQP1
13 regulation of insulin secretion GO:0050796 9.26 TNF CACNA1E CACNA1D CACNA1A
14 transmembrane transport GO:0055085 9.23 SLC26A4 SLC12A2 GJB2 CACNA1E CACNA1D CACNA1A

Molecular functions related to Inner Ear Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.58 TNF TIMP1 FADD
2 calcium channel activity GO:0005262 9.5 CACNA1E CACNA1D CACNA1A
3 water channel activity GO:0015250 9.37 AQP6 AQP1
4 ammonium transmembrane transporter activity GO:0008519 9.26 SLC12A2 AQP1
5 high voltage-gated calcium channel activity GO:0008331 9.16 CACNA1D CACNA1A
6 voltage-gated calcium channel activity GO:0005245 9.13 CACNA1E CACNA1D CACNA1A
7 potassium ion transmembrane transporter activity GO:0015079 8.62 SLC12A2 AQP1

Sources for Inner Ear Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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