MCID: CGN006
MIFTS: 49

Cogan Syndrome

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Rare diseases

Aliases & Classifications for Cogan Syndrome

MalaCards integrated aliases for Cogan Syndrome:

Name: Cogan Syndrome 12 76 53 59 44 15
Cogan's Syndrome 12 53 29
Oculovestibuloauditory Syndrome 73
Diffuse Interstitual Keratitis 12
Cogans Syndrome 55

Characteristics:

Orphanet epidemiological data:

59
cogan syndrome
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: normal life expectancy;

Classifications:



Summaries for Cogan Syndrome

NIH Rare Diseases : 53 Cogan syndrome is a rare autoimmune disease that affects the eyes and inner ears. Symptoms of the syndrome include irritation and pain in the eyes, decreased vision, hearing loss, and vertigo. Other symptoms may include joint or muscle pain or inflammation of the blood vessels.  The exact cause of Cogan syndrome is not well-understood. It is thought that the syndrome is caused by an autoimmune response that causes the immune system to attack the tissues of the eyes and ears. Cogan syndrome is not known to run in families. Diagnosis of Cogan syndrome is based on observing symptoms associated with the syndrome and ruling out other possible causes of the symptoms. Treatment options generally include corticosteroids and immunosuppressive agents. 

MalaCards based summary : Cogan Syndrome, also known as cogan's syndrome, is related to vasculitis and astroblastoma, and has symptoms including fever, fatigue and eye manifestations. An important gene associated with Cogan Syndrome is NPHP4 (Nephrocystin 4), and among its related pathways/superpathways is Cellular Transformation by HTLV1. The drugs Ophthalmic Solutions and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and lung, and related phenotypes are sensorineural hearing impairment and blindness

Disease Ontology : 12 An eye disease characterized by nonsyphilitic interstitial keratitis located in cornea, has symptom fever, has symptom fatigue.

Wikipedia : 76 Cogan syndrome is a rare disorder characterized by recurrent inflammation of the front of the eye (the... more...

Related Diseases for Cogan Syndrome

Diseases related to Cogan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 vasculitis 29.5 SERPINA1 TNF TNFRSF1B
2 astroblastoma 10.2 GFAP GJB2
3 angiocentric glioma 10.2 GFAP PTPRJ
4 microcystic meningioma 10.2 GFAP GJB2
5 nephronophthisis 19 10.2 NPHP1 NPHP4
6 joubert syndrome 3 10.2 APPL1 NPHP1
7 retinal aplasia 10.2 NPHP1 NPHP4
8 juvenile nephronophthisis 10.2 NPHP1 NPHP3 NPHP4
9 nephronophthisis 1 10.2 NPHP1 NPHP3 NPHP4
10 nephronophthisis 18 10.2 NPHP1 NPHP3 NPHP4
11 nephronophthisis 2 10.2 NPHP1 NPHP3 NPHP4
12 nephronophthisis 11 10.2 NPHP1 NPHP3 NPHP4
13 nephronophthisis 9 10.2 NPHP1 NPHP3 NPHP4
14 obstructive hydrocephalus 10.2 CRLF1 GFAP
15 senior-loken syndrome 1 10.2 NPHP1 NPHP3 NPHP4
16 trigeminal nerve neoplasm 10.2 CRLF1 GFAP
17 skin sarcoidosis 10.2 TNF TNFRSF1B
18 neurilemmoma of the fifth cranial nerve 10.2 CRLF1 GFAP
19 joubert syndrome 2 10.2 APPL1 NPHP1
20 juvenile ankylosing spondylitis 10.2 TNF TNFRSF1B
21 chronic gonococcal salpingitis 10.2 TNF TNFRSF1B
22 granulomatous dermatitis 10.2 TNF TNFRSF1B
23 scleral disease 10.2 TNF TNFRSF1B
24 heart block, congenital 10.2 TRIM21 TROVE2
25 subacute cutaneous lupus erythematosus 10.2 TNF TRIM21
26 pustulosis of palm and sole 10.2 TNF TNFRSF1B
27 cystic kidney disease 10.2 NPHP1 NPHP3 NPHP4
28 cellular ependymoma 10.1 GFAP SMUG1
29 peroneal neuropathy 10.1 TNF TNFRSF1B
30 protoplasmic astrocytoma 10.1 GFAP SMUG1
31 nephronophthisis 4 10.1 NPHP1 NPHP4
32 mandibular cancer 10.1 GFAP SMUG1
33 nephronophthisis 3 10.1 NPHP1 NPHP3
34 congenital cytomegalovirus 10.1 GJB2 TNF
35 rectum squamous cell carcinoma 10.1 SMUG1 TNFRSF1B
36 sialadenitis 10.1 TNF TRIM21 TROVE2
37 inflammatory mfh 10.1 GFAP SERPINA1
38 cutaneous lupus erythematosus 10.1 TNF TRIM21 TROVE2
39 autoimmune disease of musculoskeletal system 10.1 TNF TRIM21 TROVE2
40 joubert syndrome 1 10.1 APPL1 NPHP1 NPHP3 NPHP4
41 chondromalacia 10.0 SMUG1 TNFRSF1B
42 cardiac sarcoidosis 10.0 SMUG1 TNF
43 granulomatous myositis 10.0 SMUG1 TNFRSF1B
44 acute vascular insufficiency of intestine 10.0 HSPA4 TNF
45 rectosigmoid junction neoplasm 10.0 KCNJ11 SMUG1
46 lactocele 10.0 SMUG1 TRIM21
47 exanthem 10.0 TNF TNFRSF1B TRIM21
48 infantile nephronophthisis 10.0 NPHP3 NPHP4
49 chronic salpingitis 10.0 HSPA4 TNF TNFRSF1B
50 anca-associated vasculitis 10.0 SERPINA1 TNF

Graphical network of the top 20 diseases related to Cogan Syndrome:



Diseases related to Cogan Syndrome

Symptoms & Phenotypes for Cogan Syndrome

Symptoms:

12
  • fever
  • fatigue

Human phenotypes related to Cogan Syndrome:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
2 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
3 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
4 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
5 keratitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000491
6 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
7 thrombocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001894
8 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
9 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
10 tinnitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000360
11 uveitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000554
12 aortic regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001659
13 episcleritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100534
14 elevated erythrocyte sedimentation rate 59 32 frequent (33%) Frequent (79-30%) HP:0003565
15 scleritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100532
16 large vessel vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005310
17 reduced visual acuity 59 Very frequent (99-80%)
18 vasculitis 59 Occasional (29-5%)
19 inflammatory abnormality of the eye 59 Frequent (79-30%)
20 vestibular dysfunction 59 Very frequent (99-80%)

UMLS symptoms related to Cogan Syndrome:


eye manifestations

MGI Mouse Phenotypes related to Cogan Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 APPL1 COL4A3 GFAP GJB2 HSPA4 NPHP1
2 cardiovascular system MP:0005385 10.16 APPL1 COL4A3 GFAP GJB2 KCNJ11 NPHP3
3 mortality/aging MP:0010768 10.13 APPL1 COL4A3 CRLF1 GFAP GJB2 HSPA4
4 homeostasis/metabolism MP:0005376 10.11 APPL1 COL4A3 GFAP GJB2 KCNJ11 NPHP3
5 hematopoietic system MP:0005397 10.1 APPL1 COL4A3 CRLF1 NPHP3 PTPMT1 PTPRJ
6 immune system MP:0005387 10.06 APPL1 COL4A3 GFAP GJB2 NPHP3 PTPMT1
7 nervous system MP:0003631 9.85 CRLF1 GFAP GJB2 HSPA4 KCNJ11 NPHP1
8 renal/urinary system MP:0005367 9.5 COL4A3 NPHP1 NPHP3 NPHP4 TNFRSF1B TRIM21
9 vision/eye MP:0005391 9.17 COL4A3 GFAP GJB2 NPHP1 NPHP4 TNF

Drugs & Therapeutics for Cogan Syndrome

Drugs for Cogan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 4
2
Ethanol Approved Phase 3 64-17-5 702
3
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
4 Complement System Proteins Phase 3
5 Trace Elements Phase 3
6 Micronutrients Phase 3
7 Vitamins Phase 3
8 Ubiquinone Phase 3
9 Lecithin Phase 3
10 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy Terminated NCT02373397 Phase 4
2 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
3 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907 Not Applicable
4 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable

Search NIH Clinical Center for Cogan Syndrome

Cochrane evidence based reviews: cogan syndrome

Genetic Tests for Cogan Syndrome

Genetic tests related to Cogan Syndrome:

# Genetic test Affiliating Genes
1 Cogan's Syndrome 29

Anatomical Context for Cogan Syndrome

MalaCards organs/tissues related to Cogan Syndrome:

41
Eye, Bone, Lung, Skin, Kidney, Heart, Testis

The Foundational Model of Anatomy Ontology organs/tissues related to Cogan Syndrome:

19
Cornea

Publications for Cogan Syndrome

Articles related to Cogan Syndrome:

(show top 50) (show all 86)
# Title Authors Year
1
Cutaneous Vasculitis in Cogan's Syndrome: A Report of Two Cases Associated with Chlamydia Infection. ( 30135344 )
2018
2
Cogan's syndrome with pyoderma gangrenosum: management of two uncommon disorders with aggressive presentation in a patient. ( 29925554 )
2018
3
Sudden sensorineural hearing loss in atypical Cogan's syndrome: A case report. ( 30023055 )
2018
4
Optimal management of Cogan's syndrome: a multidisciplinary approach. ( 29317827 )
2018
5
An unusual case of post-cochlear implant performance degradation in a patient with suspected Cogan's syndrome. ( 30474510 )
2018
6
Cochlear Ossification in a Patient with Cogan's Syndrome Undergoing Bilateral Cochlear Implantation. ( 30534456 )
2018
7
Cogan Syndrome and Spondyloarthritis: Case Report. ( 29258794 )
2017
8
Atypical Ulcerated Lesions in a Patient With Cogan Syndrome. ( 28160939 )
2017
9
Histopathology of the Human Inner Ear in the Cogan Syndrome with Cochlear Implantation. ( 28848089 )
2017
10
Cogan syndrome: Characteristics, outcome and treatment in a French nationwide retrospective study and literature review. ( 29037902 )
2017
11
Late-onset Cogan's syndrome associated with large-vessel vasculitis. ( 28583785 )
2017
12
Cogan's syndrome: State of the art of systemic immunosuppressive treatment in adult and pediatric patients. ( 28232169 )
2017
13
An unusual presentation of Roth spots in Cogan's syndrome. ( 28985834 )
2017
14
Cogan syndrome with severe medium and large vessel vasculitis. ( 27330475 )
2016
15
Histopathology of the Inner Ear in a Case With Recent Onset of Cogan's Syndrome: Evidence for Vasculitis. ( 26195577 )
2016
16
Cogan's syndrome and treatment-resistant psychosis. ( 26769977 )
2016
17
Rituximab Not Effective for Hearing Loss in Cogan's Syndrome. ( 27843668 )
2016
18
Altered Brain Glucose Consumption in Cogan's Syndrome. ( 28050276 )
2016
19
Successful Pregnancy in a Patient with Atypical Cogan's Syndrome. ( 28471585 )
2016
20
Endovascular treatment of multiple aneurysms complicating Cogan syndrome. ( 25462550 )
2015
21
Sudden hearing loss and Crohn disease: when Cogan syndrome must be suspected. ( 25841536 )
2015
22
SEROUS NEUROSENSORY RETINAL DETACHMENT ASSOCIATED WITH ATYPICAL COGAN SYNDROME: A CASE REPORT. ( 26426408 )
2015
23
Lamotrigine-induced tubulointerstitial nephritis and uveitis-atypical Cogan syndrome. ( 26350991 )
2015
24
Atypical Cogan's syndrome: a case report and summary of current treatment options. ( 25600284 )
2015
25
Cogan's syndrome and other ocular vasculitides. ( 25854487 )
2015
26
Cogan's Syndrome in Patients With Inflammatory Bowel Disease--A Case Series. ( 26188351 )
2015
27
Development of a low grade lymphoma in the mastoid bone in a patient with atypical Cogan's syndrome: A case report. ( 26257951 )
2015
28
Surgical Treatment in a Case of Cogan's Syndrome Complicated With Proximal Aortic Vasculitis. ( 26434452 )
2015
29
COGAN'S SYNDROME. ( 27373108 )
2015
30
Cogan syndrome--pathogenesis, clinical variants and treatment approaches. ( 24418297 )
2014
31
Childhood Cogan syndrome with aortitis and anti-neutrophil cytoplasmic antibody-associated glomerulonephritis. ( 24803850 )
2014
32
Cochlear implantation in patients with Cogan syndrome: long-term results. ( 25367706 )
2014
33
Cogan syndrome in pregnancy. ( 25004327 )
2014
34
The Importance of FDG-PET/CT in Cogan's Syndrome. ( 24963451 )
2014
35
Cogan's syndrome: anti-Hsp70 antibodies are a serological marker in the typical form. ( 24979832 )
2014
36
Anti-Hsp70 antibodies and Cogan's syndrome. ( 24979838 )
2014
37
A Case of Odontogenic Infection by Streptococcus constellatus Leading to Systemic Infection in a Cogan's Syndrome Patient. ( 25506439 )
2014
38
Nocardia farcinica complicating Cogan's syndrome. ( 25988020 )
2014
39
Mitral valve thickening in Cogan's syndrome. ( 27276899 )
2014
40
Cogan syndrome presenting after uneventful laser in situ keratomileusis. ( 23889869 )
2013
41
Cogan syndrome: an analysis of reported neurological manifestations. ( 22367829 )
2012
42
Clinical features and outcome of Cogan syndrome. ( 21920537 )
2012
43
Cochlear implant in Cogan syndrome. ( 21171833 )
2011
44
Atypical Cogan syndrome mimicking acute rheumatic fever. ( 21813925 )
2011
45
Long-term evaluation of Cochlear implantation in Cogan syndrome. ( 20798564 )
2010
46
Cogan syndrome: confocal microscopy assessment of corneal damage. ( 20099233 )
2010
47
Cochlear implantation in patients with autoimmune inner ear disease including cogan syndrome: a comparison with age- and sex-matched controls. ( 21082747 )
2010
48
Bilateral cochlear enhancement in Cogan syndrome. ( 19564589 )
2009
49
Mycophenolate mofetil as a treatment of steroid dependent Cogan's syndrome in childhood. ( 19656580 )
2009
50
A shifty diagnosis: Cogan's syndrome. A case report and review of the literature. ( 20111622 )
2009

Variations for Cogan Syndrome

Expression for Cogan Syndrome

Search GEO for disease gene expression data for Cogan Syndrome.

Pathways for Cogan Syndrome

Pathways related to Cogan Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.5 HSPA4 TNF TNFRSF1B

GO Terms for Cogan Syndrome

Cellular components related to Cogan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 APPL1 CRLF1 GFAP GJB2 HSPA4 KCNJ11
2 astrocyte projection GO:0097449 8.62 GFAP GJB2

Biological processes related to Cogan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of glial cell proliferation GO:0060252 9.37 GFAP TNF
2 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.32 TNF TNFRSF1B
3 cellular response to nicotine GO:0071316 9.26 KCNJ11 TNF
4 endothelial cell apoptotic process GO:0072577 9.16 COL4A3 TNF
5 visual behavior GO:0007632 8.96 NPHP1 NPHP4
6 positive regulation of bicellular tight junction assembly GO:1903348 8.62 NPHP1 NPHP4

Molecular functions related to Cogan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.63 APPL1 GFAP GJB2 SERPINA1 TNF TRIM21
2 protein binding GO:0005515 9.53 APPL1 COL4A3 CRLF1 GFAP HSPA4 KCNJ11
3 structural molecule activity GO:0005198 9.26 COL4A3 GFAP NPHP1 NPHP4

Sources for Cogan Syndrome

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
Content
Loading form....