MCID: CGN006
MIFTS: 49

Cogan Syndrome

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

Aliases & Classifications for Cogan Syndrome

MalaCards integrated aliases for Cogan Syndrome:

Name: Cogan Syndrome 12 73 20 58 44 15
Cogan's Syndrome 12 20 29
Oculovestibuloauditory Syndrome 70
Diffuse Interstitual Keratitis 12
Cogans Syndrome 54

Characteristics:

Orphanet epidemiological data:

58
cogan syndrome
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0060216
MeSH 44 D055952
SNOMED-CT 67 231906002
ICD10 32 H16.32
MESH via Orphanet 45 D055952
ICD10 via Orphanet 33 H16.3
Orphanet 58 ORPHA1467
UMLS 70 C0271270

Summaries for Cogan Syndrome

GARD : 20 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 interstitial keratitis and aortitis, and has symptoms including fatigue, fever and eye manifestations. An important gene associated with Cogan Syndrome is NPHP4 (Nephrocystin 4), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include cornea, eye and brain, and related phenotypes are photophobia and vertigo

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

Wikipedia : 73 Cogan syndrome (also Cogan's syndrome) is a rare disorder characterized by recurrent inflammation of 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 295)
# Related Disease Score Top Affiliating Genes
1 interstitial keratitis 30.9 SNORA59A PTPRJ CRP
2 aortitis 30.6 PRTN3 CRP
3 scleritis 30.6 PRTN3 CRP
4 autoimmune vasculitis 30.4 PRTN3 CRP
5 posterior scleritis 30.4 PRTN3 CRP
6 oculomotor apraxia 30.3 NPHP1 AHI1
7 meniere disease 30.3 HSPA4 GJB2 COCH
8 labyrinthitis 30.2 GJB2 COCH
9 orbital plasma cell granuloma 30.1 PRTN3 CRP
10 branch retinal artery occlusion 30.0 PRTN3 CRP
11 mononeuropathy 30.0 PRTN3 CRP
12 facial paralysis 29.9 PRTN3 CRP
13 apraxia 29.9 NPHP1 CEP290 CC2D2A AHI1
14 eye disease 29.7 NPHP4 NPHP1 CRP CEP290 AHI1
15 ocular motor apraxia 11.1
16 keratitis, hereditary 10.6
17 branchiootic syndrome 1 10.5
18 vasculitis 10.4
19 sensorineural hearing loss 10.4
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
21 nephronophthisis 13 10.3 NPHP4 NPHP1
22 nephronophthisis 18 10.3 NPHP4 NPHP1
23 nephronophthisis 15 10.3 NPHP4 NPHP1
24 deafness, autosomal dominant 56 10.3 GJB2 COCH
25 deafness, autosomal dominant 2b 10.3 GJB2 COCH
26 deafness, autosomal recessive 91 10.3 GJB2 COCH
27 deafness, autosomal dominant 3a 10.3 GJB2 COCH
28 deafness, autosomal dominant 2a 10.3 GJB2 COCH
29 nephronophthisis 4 10.3 NPHP4 NPHP1
30 nephronophthisis 1 10.2 NPHP4 NPHP1 AHI1
31 leber congenital amaurosis 3 10.2 NPHP4 CEP290
32 tubulointerstitial kidney disease, autosomal dominant, 1 10.2 NPHP4 NPHP1
33 purulent acute otitis media 10.2 PRTN3 CRP
34 uveitis 10.2
35 anterior scleritis 10.2 PRTN3 CRP
36 frontal sinusitis 10.2 PRTN3 CRP
37 bicipital tenosynovitis 10.2 PRTN3 CRP
38 tenosynovitis 10.2 PRTN3 CRP
39 multiple cranial nerve palsy 10.2 PRTN3 CRP
40 cranial nerve palsy 10.2 PRTN3 CRP
41 vestibular disease 10.2 GJB2 COCH
42 tolosa-hunt syndrome 10.2 PRTN3 CRP
43 ethmoid sinusitis 10.2 PRTN3 CRP
44 chronic orbital inflammation 10.2 PRTN3 CRP
45 glossopharyngeal nerve disease 10.2 PRTN3 CRP
46 granulomatous angiitis 10.2 PRTN3 CRP
47 cholesterol embolism 10.2 PRTN3 CRP
48 deafness, autosomal dominant 9 10.2 GJB2 COCH
49 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
50 ifap syndrome 2 10.2

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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
2 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
3 keratitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000491
4 tinnitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000360
5 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
6 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
7 elevated erythrocyte sedimentation rate 58 31 frequent (33%) Frequent (79-30%) HP:0003565
8 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
9 thrombocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001894
10 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
11 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
12 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
13 aortic regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001659
14 episcleritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100534
15 large vessel vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005310
16 scleritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100532
17 reduced visual acuity 58 Very frequent (99-80%)
18 vasculitis 58 Occasional (29-5%)
19 inflammatory abnormality of the eye 58 Frequent (79-30%)
20 vestibular dysfunction 58 Very frequent (99-80%)

Symptoms:

12
  • fatigue
  • fever

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 9.81 AHI1 CC2D2A CEP290 GJB2 HSPA4 NPHP1
2 renal/urinary system MP:0005367 9.43 AHI1 CC2D2A CEP290 NPHP1 NPHP4 RPGRIP1L
3 vision/eye MP:0005391 9.17 AHI1 CC2D2A CEP290 GJB2 NPHP1 NPHP4

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
Ethanol Approved Phase 3 64-17-5 702
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
3
Lecithin Experimental Phase 3 8002-43-5
4 Trace Elements Phase 3
5 Nutrients Phase 3
6 Complement System Proteins Phase 3
7 Vitamins Phase 3
8 Micronutrients Phase 3
9 Ubiquinone Phase 3
10 Ophthalmic Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
2 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
3 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Completed NCT04153110
4 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy of the Anterior Cornea: A Randomized Double-Blinded Placebo-Controlled Study Terminated NCT02373397

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

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

19
Cornea

MalaCards organs/tissues related to Cogan Syndrome:

40
Eye, Brain, Pituitary, Smooth Muscle, Endothelial, Atrioventricular Node, Neutrophil

Publications for Cogan Syndrome

Articles related to Cogan Syndrome:

(show top 50) (show all 466)
# Title Authors PMID Year
1
Cogan's syndrome: an autoimmune inner ear disease. 20 61
22846458 2013
2
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. 61 54
15776426 2005
3
Systemic diseases and the cornea. 61
33485845 2021
4
[Syncope, pain in the large joints, and painful swelling of the right eye in a 51-year-old patient : Pitfalls in the diagnosis and treatment of a rare disease]. 61
33001239 2020
5
Trans-stromal epithelial cyst after multiple lamellar keratoplasties - Case report and review of literature. 61
32913921 2020
6
Successful treatment of Cogan's syndrome with tocilizumab. 61
33047628 2020
7
Aseptic Liver Abscesses as an Exceptional Finding in Cogan's Syndrome. 61
32916761 2020
8
Atypical Cogan Syndrome Featuring Orbital Myositis and Dacryoadenitis. 61
32991499 2020
9
Familial HLA-B*52 Vasculitis: Maternal, Atypical Cogan's Syndrome with Takayasu Arteritis-mimicking Aortitis and Filial Takayasu Arteritis. 61
32321889 2020
10
Syndrome de Cogan. 61
32773166 2020
11
Cogan syndrome: Descriptive analysis and clinical experience of 7 cases diagnosed and treated in two third level hospitals. 61
32571733 2020
12
Bilateral interstitial keratitis, erythema nodosum and atrial fibrillation as presenting signs of polyarteritis nodosa. 61
32140612 2020
13
Cogan's Syndrome: Clinical Presentations and Update on Treatment. 61
32548646 2020
14
Vasculitis and the ear: a literature review. 61
31599796 2020
15
Case Report: Effective and Safe Treatment With Certolizumab Pegol in Pregnant Patients With Cogan's Syndrome: A Report of Three Pregnancies in Two Patients. 61
33537034 2020
16
Cogan syndrome: An autoimmune eye and ear disease with systemic manifestations. 61
33380629 2019
17
Cogan's Syndrome and Spondyloarthritis: Case Report. 61
29258794 2019
18
Off-label application of intravenous immunoglobulin (IVIG) for treatment of Cogan's syndrome during pregnancy. 61
31604714 2019
19
Late-onset Cogan's syndrome associated with large-vessel vasculitis. 61
28583785 2019
20
Cogan's syndrome: new therapeutic approaches in the biological era. 61
31056972 2019
21
Immune-mediated conditions affecting the brain, eye and ear (BEE syndromes). 61
30852493 2019
22
Aortic valve perforation in the setting of Cogan's syndrome. 61
31246322 2019
23
Pearls & Oy-sters: Cogan syndrome: A potentially grave disorder of audiovestibulopathy with many faces. 61
31262988 2019
24
Hepatic vasculitis mimicking multiple liver abscesses in Cogan's Syndrome. 61
31308353 2019
25
Nail Lichen Planus in a Patient with Cogan Syndrome: Report of a Case and Discussion. 61
31320865 2019
26
[Cogan syndrome with audiovestibular disfunction: 2 cases report]. 61
30970414 2019
27
An unusual case of post-cochlear implant performance degradation in a patient with suspected Cogan's syndrome. 61
30474510 2019
28
[Screening for ocular involvement in deaf children]. 61
31565135 2019
29
Ear Involvement in Inflammatory Bowel Disease: A Review of the Literature. 61
29977417 2018
30
Evolocumab and lipoprotein apheresis combination therapy may have synergic effects to reduce low-density lipoprotein cholesterol levels in heterozygous familial hypercholesterolemia: A case report. 61
29638018 2018
31
[Beethoven and Cogan syndrome]. 61
30534878 2018
32
Sudden sensorineural hearing loss in atypical Cogan's syndrome: A case report. 61
30023055 2018
33
Cogan's syndrome with pyoderma gangrenosum: management of two uncommon disorders with aggressive presentation in a patient. 61
29925554 2018
34
Fever of unknown origin: a challenging case. 61
29866675 2018
35
Fever of unknown origin, bilateral sensorineural hearing loss with canal paresis and uveitis with iridocyclitis and episcleritis: a case of Cogan's syndrome. 61
29703835 2018
36
Interstitial Keratitis in Cogan's Syndrome. 61
29490187 2018
37
Update on Vertigo in Autoimmune Disorders, from Diagnosis to Treatment. 61
30356417 2018
38
Optimal management of Cogan's syndrome: a multidisciplinary approach. 61
29317827 2018
39
Autoimmune Inner Ear Disease: Immune Biomarkers, Audiovestibular Aspects, and Therapeutic Modalities of Cogan's Syndrome. 61
29850616 2018
40
Cutaneous Vasculitis in Cogan's Syndrome: A Report of Two Cases Associated with Chlamydia Infection. 61
30135344 2018
41
Cochlear Implantation in Cochlear Ossification: Retrospective Review of Etiologies, Surgical Considerations, and Auditory Outcomes. 61
29065093 2018
42
Cochlear Ossification in a Patient with Cogan's Syndrome Undergoing Bilateral Cochlear Implantation. 61
30534456 2018
43
Cogan's syndrome - A rare aortitis, difficult to diagnose but with therapeutic potential. 61
29489984 2017
44
Cogan syndrome: Characteristics, outcome and treatment in a French nationwide retrospective study and literature review. 61
29037902 2017
45
An unusual presentation of Roth spots in Cogan's syndrome. 61
28985834 2017
46
Systemic Lupus Erythematosus and hearing disorders: Literature review and meta-analysis of clinical and temporal bone findings. 61
28345423 2017
47
Congenital heart block and immune mediated sensorineural hearing loss: possible cross reactivity of immune response. 61
27913750 2017
48
Atypical Ulcerated Lesions in a Patient With Cogan Syndrome. 61
28160939 2017
49
Cogan's syndrome: State of the art of systemic immunosuppressive treatment in adult and pediatric patients. 61
28232169 2017
50
Autoimmune Ear Disease: Clinical and Diagnostic Relevance in Cogan's Sydrome. 61
28458810 2017

Variations for Cogan Syndrome

Expression for Cogan Syndrome

Search GEO for disease gene expression data for Cogan Syndrome.

Pathways for Cogan Syndrome

GO Terms for Cogan Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.95 RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A AHI1
2 cell junction GO:0030054 9.91 RPGRIP1L PTPRJ NPHP4 NPHP1 GJB2 AHI1
3 cell projection GO:0042995 9.91 RPGRIP1L PTPRJ NPHP4 NPHP1 CEP290 CC2D2A
4 centrosome GO:0005813 9.8 RPGRIP1L NPHP4 CEP290 AHI1
5 ciliary basal body GO:0036064 9.71 RPGRIP1L NPHP4 CEP290 AHI1
6 cell-cell junction GO:0005911 9.65 RPGRIP1L PTPRJ NPHP4 NPHP1 AHI1
7 bicellular tight junction GO:0005923 9.63 RPGRIP1L NPHP4 NPHP1
8 cilium GO:0005929 9.63 RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A AHI1
9 non-motile cilium GO:0097730 9.51 NPHP4 AHI1
10 MKS complex GO:0036038 9.5 CEP290 CC2D2A AHI1
11 photoreceptor connecting cilium GO:0032391 9.26 RPGRIP1L NPHP4 NPHP1 CEP290
12 ciliary transition zone GO:0035869 8.92 RPGRIP1L NPHP4 CEP290 CC2D2A

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.56 RPGRIP1L CEP290 CC2D2A AHI1
2 cell projection organization GO:0030030 9.46 NPHP1 CEP290 CC2D2A AHI1
3 hindbrain development GO:0030902 9.43 CEP290 AHI1
4 photoreceptor cell outer segment organization GO:0035845 9.4 NPHP4 AHI1
5 protein localization to ciliary transition zone GO:1904491 9.37 NPHP4 CC2D2A
6 positive regulation of bicellular tight junction assembly GO:1903348 9.32 NPHP4 NPHP1
7 ciliary basal body-plasma membrane docking GO:0097711 9.1 RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A AHI1
8 visual behavior GO:0007632 8.96 NPHP4 NPHP1

Sources for Cogan Syndrome

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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