MCID: CGN006
MIFTS: 51

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 77 54 60 45 15
Cogan's Syndrome 12 54 30
Oculovestibuloauditory Syndrome 74
Diffuse Interstitual Keratitis 12
Cogans Syndrome 56

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 apraxia and ocular motor apraxia, 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 Organelle biogenesis and maintenance. The drugs Ophthalmic Solutions and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and bone, and related phenotypes are photophobia and keratitis

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

Wikipedia : 77 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 78)
# Related Disease Score Top Affiliating Genes
1 apraxia 29.5 NPHP1 NPHP4
2 ocular motor apraxia 11.5
3 interstitial keratitis 10.3
4 polyarteritis nodosa 10.2
5 autoimmune disease 10.2
6 keratitis, hereditary 10.1
7 arthritis 10.1
8 sensorineural hearing loss 10.1
9 scleritis 10.1
10 posterior scleritis 10.1
11 angiocentric glioma 10.1 GFAP PTPRJ
12 uveitis 10.0
13 inflammatory bowel disease 10.0
14 chlamydia 10.0
15 pyoderma 10.0
16 coronary stenosis 10.0
17 aortic valve insufficiency 10.0
18 pyoderma gangrenosum 10.0
19 nephronophthisis 19 10.0 NPHP1 NPHP4
20 retinal aplasia 10.0 NPHP1 NPHP4
21 nephronophthisis 4 10.0 NPHP1 NPHP4
22 meckel syndrome, type 6 9.9 NPHP1 NPHP4
23 retinal detachment 9.9
24 hypogonadism, male 9.9
25 rheumatic fever-related antigen 9.9
26 budd-chiari syndrome 9.9
27 aceruloplasminemia 9.9
28 tubulointerstitial nephritis with uveitis 9.9
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
30 crohn's disease 9.9
31 glomerulonephritis 9.9
32 keratopathy 9.9
33 crohn's colitis 9.9
34 thrombosis 9.9
35 rheumatic fever 9.9
36 hypogonadism 9.9
37 inner ear disease 9.9
38 aortitis 9.9
39 hypogonadotropism 9.9
40 vasculitis 9.9
41 autoimmune inner ear disease 9.9
42 polycystic liver disease 1 with or without kidney cysts 9.9 NPHP1 NPHP4
43 marfan syndrome 9.9
44 rheumatoid arthritis 9.9
45 buerger disease 9.9
46 familial mediterranean fever 9.9
47 peyronie's disease 9.9
48 chlamydia pneumonia 9.9
49 lymphoma 9.9
50 meningoencephalitis 9.9

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



Diseases related to Cogan Syndrome

Symptoms & Phenotypes for Cogan Syndrome

Human phenotypes related to Cogan Syndrome:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
2 keratitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000491
3 vertigo 60 33 hallmark (90%) Very frequent (99-80%) HP:0002321
4 tinnitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000360
5 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
6 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
7 thrombocytosis 60 33 frequent (33%) Frequent (79-30%) HP:0001894
8 leukocytosis 60 33 frequent (33%) Frequent (79-30%) HP:0001974
9 elevated erythrocyte sedimentation rate 60 33 frequent (33%) Frequent (79-30%) HP:0003565
10 blindness 60 33 occasional (7.5%) Occasional (29-5%) HP:0000618
11 conjunctivitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000509
12 uveitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000554
13 aortic regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001659
14 episcleritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100534
15 scleritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100532
16 large vessel vasculitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005310
17 reduced visual acuity 60 Very frequent (99-80%)
18 vasculitis 60 Occasional (29-5%)
19 inflammatory abnormality of the eye 60 Frequent (79-30%)
20 vestibular dysfunction 60 Very frequent (99-80%)

Symptoms:

12
  • fever
  • fatigue

UMLS symptoms related to Cogan Syndrome:


eye manifestations

MGI Mouse Phenotypes related to Cogan Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 GFAP NPHP1 NPHP3 NPHP4 SEMA4G
2 nervous system MP:0003631 9.35 GFAP NPHP1 NPHP3 NPHP4 SEMA4G
3 renal/urinary system MP:0005367 8.92 NPHP1 NPHP3 NPHP4 SEMA4G

Drugs & Therapeutics for Cogan Syndrome

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

(show all 11)
# 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 Nutrients Phase 3
5 Micronutrients Phase 3
6 Vitamins Phase 3
7 Complement System Proteins Phase 3
8 Ubiquinone Phase 3
9 Lecithin Phase 3
10 Trace Elements Phase 3
11 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 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
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 30

Anatomical Context for Cogan Syndrome

MalaCards organs/tissues related to Cogan Syndrome:

42
Eye, Liver, Bone, Kidney, Brain, Endothelial, Atrioventricular Node

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

20
Cornea

Publications for Cogan Syndrome

Articles related to Cogan Syndrome:

(show top 50) (show all 258)
# Title Authors Year
1
Cogan's syndrome: new therapeutic approaches in the biological era. ( 31056972 )
2019
2
Autoimmune Inner Ear Disease: Immune Biomarkers, Audiovestibular Aspects, and Therapeutic Modalities of Cogan's Syndrome. ( 29850616 )
2018
3
Cutaneous Vasculitis in Cogan's Syndrome: A Report of Two Cases Associated with Chlamydia Infection. ( 30135344 )
2018
4
Interstitial Keratitis in Cogan's Syndrome. ( 29490187 )
2018
5
Fever of unknown origin, bilateral sensorineural hearing loss with canal paresis and uveitis with iridocyclitis and episcleritis: a case of Cogan's syndrome. ( 29703835 )
2018
6
Cogan's syndrome with pyoderma gangrenosum: management of two uncommon disorders with aggressive presentation in a patient. ( 29925554 )
2018
7
Sudden sensorineural hearing loss in atypical Cogan's syndrome: A case report. ( 30023055 )
2018
8
Optimal management of Cogan's syndrome: a multidisciplinary approach. ( 29317827 )
2018
9
An unusual case of post-cochlear implant performance degradation in a patient with suspected Cogan's syndrome. ( 30474510 )
2018
10
Cochlear Ossification in a Patient with Cogan's Syndrome Undergoing Bilateral Cochlear Implantation. ( 30534456 )
2018
11
Cogan's syndrome - A rare aortitis, difficult to diagnose but with therapeutic potential. ( 29489984 )
2017
12
Atypical Ulcerated Lesions in a Patient With Cogan Syndrome. ( 28160939 )
2017
13
Histopathology of the Human Inner Ear in the Cogan Syndrome with Cochlear Implantation. ( 28848089 )
2017
14
Cogan syndrome: Characteristics, outcome and treatment in a French nationwide retrospective study and literature review. ( 29037902 )
2017
15
Cogan Syndrome and Spondyloarthritis: Case Report. ( 29258794 )
2017
16
Late-onset Cogan's syndrome associated with large-vessel vasculitis. ( 28583785 )
2017
17
Cogan's syndrome: State of the art of systemic immunosuppressive treatment in adult and pediatric patients. ( 28232169 )
2017
18
An unusual presentation of Roth spots in Cogan's syndrome. ( 28985834 )
2017
19
Cogan syndrome with severe medium and large vessel vasculitis. ( 27330475 )
2016
20
Histopathology of the Inner Ear in a Case With Recent Onset of Cogan's Syndrome: Evidence for Vasculitis. ( 26195577 )
2016
21
Rituximab Not Effective for Hearing Loss in Cogan's Syndrome. ( 27843668 )
2016
22
Cogan's syndrome and treatment-resistant psychosis. ( 26769977 )
2016
23
Altered Brain Glucose Consumption in Cogan's Syndrome. ( 28050276 )
2016
24
Successful Pregnancy in a Patient with Atypical Cogan's Syndrome. ( 28471585 )
2016
25
Cochlear implantation in patients with Cogan syndrome: long-term results. ( 25367706 )
2015
26
Endovascular treatment of multiple aneurysms complicating Cogan syndrome. ( 25462550 )
2015
27
Sudden hearing loss and Crohn disease: when Cogan syndrome must be suspected. ( 25841536 )
2015
28
Lamotrigine-induced tubulointerstitial nephritis and uveitis-atypical Cogan syndrome. ( 26350991 )
2015
29
SEROUS NEUROSENSORY RETINAL DETACHMENT ASSOCIATED WITH ATYPICAL COGAN SYNDROME: A CASE REPORT. ( 26426408 )
2015
30
Surgical Treatment in a Case of Cogan's Syndrome Complicated With Proximal Aortic Vasculitis. ( 26434452 )
2015
31
Atypical Cogan's syndrome: a case report and summary of current treatment options. ( 25600284 )
2015
32
Cogan's syndrome and other ocular vasculitides. ( 25854487 )
2015
33
Cogan's Syndrome in Patients With Inflammatory Bowel Disease--A Case Series. ( 26188351 )
2015
34
Development of a low grade lymphoma in the mastoid bone in a patient with atypical Cogan's syndrome: A case report. ( 26257951 )
2015
35
COGAN'S SYNDROME. ( 27373108 )
2015
36
Childhood Cogan syndrome with aortitis and anti-neutrophil cytoplasmic antibody-associated glomerulonephritis. ( 24803850 )
2014
37
Cogan syndrome--pathogenesis, clinical variants and treatment approaches. ( 24418297 )
2014
38
Cogan syndrome in pregnancy. ( 25004327 )
2014
39
Atypical Cogan's syndrome presenting as bilateral endogenous endophthalmitis. ( 22908938 )
2014
40
Interstitial Keratitis, Vertigo, and Vasculitis: Typical Cogan's Syndrome. ( 24715922 )
2014
41
Cogan's syndrome--clinical guidelines and novel therapeutic approaches. ( 24385257 )
2014
42
The Importance of FDG-PET/CT in Cogan's Syndrome. ( 24963451 )
2014
43
Cogan's syndrome: anti-Hsp70 antibodies are a serological marker in the typical form. ( 24979832 )
2014
44
Anti-Hsp70 antibodies and Cogan's syndrome. ( 24979838 )
2014
45
A Case of Odontogenic Infection by Streptococcus constellatus Leading to Systemic Infection in a Cogan's Syndrome Patient. ( 25506439 )
2014
46
Nocardia farcinica complicating Cogan's syndrome. ( 25988020 )
2014
47
Mitral valve thickening in Cogan's syndrome. ( 27276899 )
2014
48
Successful treatment with tocilizumab in a case of Cogan's syndrome complicated with aortitis. ( 22752533 )
2013
49
Cogan's syndrome: an autoimmune inner ear disease. ( 22846458 )
2013
50
Cogan syndrome presenting after uneventful laser in situ keratomileusis. ( 23889869 )
2013

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
11.53 NPHP1 NPHP3 NPHP4

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 cell junction GO:0030054 9.54 NPHP1 NPHP4 PTPRJ
2 cilium GO:0005929 9.43 NPHP1 NPHP3 NPHP4
3 bicellular tight junction GO:0005923 9.32 NPHP1 NPHP4
4 photoreceptor connecting cilium GO:0032391 9.16 NPHP1 NPHP4
5 cell-cell junction GO:0005911 9.13 NPHP1 NPHP4 PTPRJ
6 cell projection GO:0042995 9.02 GFAP NPHP1 NPHP3 NPHP4 PTPRJ

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

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.43 NPHP1 NPHP4
2 cell-cell adhesion GO:0098609 9.4 NPHP1 NPHP4
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.37 NPHP3 NPHP4
4 ciliary basal body-plasma membrane docking GO:0097711 9.32 NPHP1 NPHP4
5 retina development in camera-type eye GO:0060041 9.26 NPHP1 NPHP4
6 photoreceptor cell maintenance GO:0045494 9.16 NPHP3 NPHP4
7 visual behavior GO:0007632 8.96 NPHP1 NPHP4
8 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 structural molecule activity GO:0005198 8.8 GFAP NPHP1 NPHP4

Sources for Cogan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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