MCID: ATM021
MIFTS: 34

Autoimmune Inner Ear Disease

Categories: Rare diseases, Ear diseases

Aliases & Classifications for Autoimmune Inner Ear Disease

MalaCards integrated aliases for Autoimmune Inner Ear Disease:

Name: Autoimmune Inner Ear Disease 49
Ocular Albinism, Type Ii 69 28
Aied 49

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


External Ids:

UMLS 69 C0268505

Summaries for Autoimmune Inner Ear Disease

MalaCards based summary : Autoimmune Inner Ear Disease, also known as ocular albinism, type ii, is related to inner ear disease and ulcerative colitis. An important gene associated with Autoimmune Inner Ear Disease is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F), and among its related pathways/superpathways are Immune response IL-23 signaling pathway and NF-kappaB Signaling. The drugs Methotrexate and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include testes and lung, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 72 Autoimmune inner ear disease (AIED) was first defined by Dr. Brian McCabe in a landmark paper describing... more...

Related Diseases for Autoimmune Inner Ear Disease

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 inner ear disease 30.8 MPO TNF
2 ulcerative colitis 29.1 MPO TNF
3 colitis 29.1 MPO TNF
4 amelogenesis imperfecta 11.8
5 aland island eye disease 11.7
6 androgen insensitivity syndrome 11.5
7 scoliosis, isolated 1 11.4
8 hereditary amyloidosis 11.2
9 aortic valve insufficiency 11.2
10 pediatric arterial ischemic stroke 11.0
11 amelogenesis imperfecta, type ib 11.0
12 salt and pepper developmental regression syndrome 10.9
13 jalili syndrome 10.8
14 amelogenesis imperfecta, type ie 10.8
15 amelogenesis imperfecta, type ij 10.8
16 auditory system disease 10.8
17 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.8
18 alzheimer disease 10.6
19 cerebritis 10.2
20 amyloidosis 10.2
21 neuronitis 10.2
22 labyrinthitis 10.0
23 scleroderma, familial progressive 9.9
24 meester-loeys syndrome 9.9
25 aging 9.9
26 polyarteritis nodosa, childhood-onset 9.9
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
28 crohn's disease 9.9
29 cogan syndrome 9.9
30 pertussis 9.9
31 melanoma 9.9
32 polyarteritis nodosa 9.9
33 paraneoplastic syndromes 9.9
34 microscopic polyangiitis 9.8 MPO TNF
35 granulocytopenia 9.8 MPO TNF
36 proctitis 9.8 MPO TNF
37 pleural disease 9.8 MPO TNF
38 churg-strauss syndrome 9.8 MPO TNF
39 ileitis 9.8 MPO TNF
40 suppurative cholangitis 9.8 MPO TNF
41 pleurisy 9.7 MPO TNF
42 appendicitis 9.7 MPO TNF
43 sclerosing cholangitis 9.7 MPO TNF
44 autoinflammation, lipodystrophy, and dermatosis syndrome 9.7 MPO TNF
45 intestinal disease 9.7 MPO TNF
46 bronchitis 9.7 MPO TNF
47 respiratory system disease 9.7 MPO TNF
48 chronic granulomatous disease 9.7 MPO TNF
49 gastrointestinal system disease 9.7 MPO TNF
50 vasculitis 9.6 MPO TNF

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



Diseases related to Autoimmune Inner Ear Disease

Symptoms & Phenotypes for Autoimmune Inner Ear Disease

GenomeRNAi Phenotypes related to Autoimmune Inner Ear Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.23 CACNA1F
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.23 CACNA1F
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.23 CACNA1F
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.23 MPO
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.23 CACNA1F
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.23 CACNA1F MPO
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.23 CACNA1F

Drugs & Therapeutics for Autoimmune Inner Ear Disease

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
2
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
3
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
4
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
6 Antirheumatic Agents Phase 3,Phase 1,Phase 2
7 Folic Acid Antagonists Phase 3
8 Nucleic Acid Synthesis Inhibitors Phase 3
9 Dermatologic Agents Phase 3
10 Vitamin B Complex Phase 3
11 Immunosuppressive Agents Phase 3
12 Antimetabolites Phase 3
13 Antimetabolites, Antineoplastic Phase 3
14 Folate Nutraceutical Phase 3
15 Vitamin B9 Nutraceutical Phase 3
16 Pharmaceutical Solutions Phase 2
17 Interleukin 1 Receptor Antagonist Protein Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
2 The Effects of Gevokizumab in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01950312 Phase 2 gevokizumab
3 A Clinical Trial of Anakinra for Steroid-Resistant Autoimmune Inner Ear Disease Completed NCT01267994 Phase 1, Phase 2 Anakinra
4 Intratympanic Injection for Autoimmune Inner Ear Disease Terminated NCT01526174 Phase 1, Phase 2 Golimumab
5 Strength Training on Pancreatic Cancer Withdrawn NCT01395563

Search NIH Clinical Center for Autoimmune Inner Ear Disease

Genetic Tests for Autoimmune Inner Ear Disease

Genetic tests related to Autoimmune Inner Ear Disease:

# Genetic test Affiliating Genes
1 Ocular Albinism, Type Ii 28 CACNA1F

Anatomical Context for Autoimmune Inner Ear Disease

MalaCards organs/tissues related to Autoimmune Inner Ear Disease:

38
Testes, Lung

Publications for Autoimmune Inner Ear Disease

Articles related to Autoimmune Inner Ear Disease:

(show top 50) (show all 68)
# Title Authors Year
1
The Balance of Tissue Inhibitor of Metalloproteinase-1 and Matrix Metalloproteinase-9 in the Autoimmune Inner Ear Disease Patients. ( 28696822 )
2017
2
Autoimmune inner ear disease in a melanoma patient treated with pembrolizumab. ( 26885370 )
2016
3
Systematic Review of Treatments for Autoimmune Inner Ear Disease. ( 26485595 )
2015
4
Current understanding of the pathogenesis of autoimmune inner ear disease: a review. ( 25847404 )
2015
5
Progression of autoimmune inner ear disease to labyrinthitis ossificans: clinical and radiologic correlation. ( 25738715 )
2015
6
N-Acetylcysteine attenuates tumor necrosis factor alpha levels in autoimmune inner ear disease patients. ( 26392121 )
2015
7
Paraneoplastic syndrome: a masquerade of autoimmune inner ear disease. ( 25427223 )
2015
8
Diffuse systemic sclerosis presenting as Meniere's disease-like symptoms as part of autoimmune inner ear disease. ( 26040060 )
2015
9
Cochlin in autoimmune inner ear disease: Is the search for an inner ear autoantigen over? ( 25199741 )
2014
10
Early efficacy trial of anakinra in corticosteroid-resistant autoimmune inner ear disease. ( 25133431 )
2014
11
An open label study to evaluate the safety and efficacy of intratympanic golimumab therapy in patients with autoimmune inner ear disease. ( 25203561 )
2014
12
IL-1I^ inhibition in autoimmune inner ear disease: can you hear me now? ( 25133418 )
2014
13
Infliximab for autoimmune inner ear disease: case report and literature review. ( 24125068 )
2013
14
Innate immune recognition of molds and homology to the inner ear protein, cochlin, in patients with autoimmune inner ear disease. ( 23912888 )
2013
15
Cogan's syndrome: an autoimmune inner ear disease. ( 22846458 )
2013
16
Autoimmune inner ear disease preliminary case report: audiometric findings following steroid treatments. ( 23800807 )
2013
17
Autoimmune inner ear disease: a retrospective review of forty-seven patients. ( 23817208 )
2013
18
Extraintestinal Crohn's disease mimicking autoimmune inner ear disease: a histopathological approach. ( 20523038 )
2011
19
High dose combination pertussis toxin induces autoimmune inner ear disease in Sprague-Dawley rats. ( 21366505 )
2011
20
Autoimmune inner ear disease in children. ( 21178803 )
2011
21
IL-1I^ is overexpressed and aberrantly regulated in corticosteroid nonresponders with autoimmune inner ear disease. ( 21199898 )
2011
22
Labyrinthitis ossificans secondary to autoimmune inner ear disease: a previously unreported condition. ( 20416474 )
2010
23
Cochlear implantation in patients with autoimmune inner ear disease including cogan syndrome: a comparison with age- and sex-matched controls. ( 21082747 )
2010
24
Induction of tolerance by oral administration of beta-tubulin in an animal model of autoimmune inner ear disease. ( 19365153 )
2009
25
Safety of high-dose corticosteroids for the treatment of autoimmune inner ear disease. ( 19395984 )
2009
26
The diagnosis of autoimmune inner ear disease: evidence and critical pitfalls. ( 18777037 )
2009
27
Immunosuppressive therapy for autoimmune inner ear disease. ( 19885385 )
2009
28
Autoimmune inner ear disease: clinical and laboratory findings and treatment outcome. ( 19128599 )
2008
29
Does the serological study for viral infection in autoimmune inner ear disease make sense? ( 18235201 )
2008
30
Recurrent autoimmune inner ear disease (AIED) and polyarteritis nodosa in a patient with large cell lung carcinoma. ( 16552463 )
2007
31
Radiology quiz case 1. Autoimmune inner ear disease (AIED). ( 15967892 )
2005
32
Etanercept treatment for autoimmune inner ear disease: results of a pilot placebo-controlled study. ( 16151336 )
2005
33
Autoimmune inner ear disease. ( 15377956 )
2004
34
Autoimmune inner ear disease: diagnostic and therapeutic approaches in a multidisciplinary setting. ( 12940706 )
2003
35
Expression of heat shock protein 70 in the cochlea in experimental autoimmune inner ear disease. ( 11913688 )
2002
36
Autoimmune inner ear disease: diagnostic and advanced treatments. ( 12528256 )
2002
37
Clinical and experimental studies of autoimmune inner ear disease. ( 12211349 )
2002
38
Relationship between three inner ear antigens with different molecular weights and autoimmune inner ear disease. ( 11876599 )
2002
39
Autoimmune inner ear disease: steroid and cytotoxic drug therapy. ( 11816893 )
2001
40
COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases. ( 11568667 )
2001
41
Autoimmune inner ear disease. ( 11123055 )
2000
42
Identification of beta-actin as a candidate autoantigen in autoimmune inner ear disease. ( 11122295 )
2000
43
Sudden hearing loss and autoimmune inner ear disease. ( 10976497 )
2000
44
Experimental autoimmune inner ear disease: an electrocochleographic and histophysiologic study. ( 10823474 )
2000
45
[The role of heat shock protein 70 and its autoantibody in experimental autoimmune inner ear disease]. ( 12768679 )
2000
46
Utility of laboratory testing in autoimmune inner ear disease. ( 10569401 )
1999
47
Sulfoglucuronosyl glycolipids as putative antigens for autoimmune inner ear disease. ( 9628451 )
1998
48
Autoimmune inner ear disease--a real entity? ( 9316775 )
1997
49
You're the flight surgeon: autoimmune inner ear disease. ( 9441590 )
1997
50
Plasmapheresis in autoimmune inner ear disease: long-term follow-up. ( 9303152 )
1997

Variations for Autoimmune Inner Ear Disease

Expression for Autoimmune Inner Ear Disease

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

Pathways for Autoimmune Inner Ear Disease

GO Terms for Autoimmune Inner Ear Disease

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

# Name GO ID Score Top Affiliating Genes
1 defense response to bacterium GO:0042742 9.16 MPO TNF
2 defense response GO:0006952 8.96 MPO TNF
3 negative regulation of growth of symbiont in host GO:0044130 8.62 MPO TNF

Sources for Autoimmune Inner Ear Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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