MCID: CGN006
MIFTS: 52

Cogan Syndrome

Categories: Rare diseases, Eye diseases, Cardiovascular diseases, Bone 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
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 senior-løken syndrome, 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 are Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway and Cellular Transformation by HTLV1. The drugs Ophthalmic Solutions and Tetrahydrozoline have been mentioned in the context of this disorder. Affiliated tissues include cornea, eye and liver, and related phenotypes are tinnitus and keratitis

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 153)
# Related Disease Score Top Affiliating Genes
1 vasculitis 29.2 CD40LG CD79A TNF TNFRSF1B
2 senior-løken syndrome 10.9 NPHP3 NPHP4
3 nephronophthisis 4 10.9 NPHP1 NPHP4
4 precursor lymphoblastic lymphoma/leukemia 10.9 CD79A PTPRJ
5 selective igg deficiency disease 10.8 CD40LG CD79A
6 c1q nephropathy 10.8 CD40LG CD79A
7 infantile nephronophthisis 10.8 INVS NPHP3 NPHP4
8 meningovascular neurosyphilis 10.8 CD40LG CD79A
9 alpha chain disease 10.8 CD40LG CD79A
10 brill-zinsser disease 10.8 CD40LG CD79A
11 exudative glomerulonephritis 10.8 CD40LG CD79A
12 cork-handlers' disease 10.8 CD40LG CD79A
13 salpingo-oophoritis 10.7 CD40LG CD79A
14 early yaws 10.7 CD40LG CD79A
15 ventilation pneumonitis 10.7 CD40LG CD79A
16 chronic interstitial cystitis 10.7 CD40LG CD79A
17 axillary adenitis 10.7 CD40LG CD79A
18 cryofibrinogenemia 10.7 CD40LG CD79A
19 trichostrongyloidiasis 10.7 CD40LG CD79A
20 subacute bacterial endocarditis 10.7 CD40LG CD79A
21 heterophyiasis 10.7 CD40LG CD79A
22 immunoglobulin g deficiency 10.7 CD40LG CD79A
23 orbital granuloma 10.7 CD40LG CD79A
24 transient hypogammaglobulinemia of infancy 10.7 CD40LG CD79A
25 gastroduodenitis 10.7 CD40LG CD79A
26 bacterial conjunctivitis 10.7 CD40LG CD79A
27 heavy chain disease 10.6 CD40LG CD79A
28 ophthalmia neonatorum 10.6 CD40LG CD79A
29 immunoglobulin a deficiency 1 10.6 CD40LG CD79A
30 visceral heterotaxy 10.6 INVS NPHP1 NPHP3
31 parotid disease 10.6 CD40LG CD79A
32 selective immunoglobulin deficiency disease 10.6 CD40LG CD79A
33 meckel syndrome, type 1 10.6 INVS NPHP1 NPHP4
34 transient neonatal thrombocytopenia 10.6 CD79A TRIM21
35 geniculate herpes zoster 10.6 CD40LG CD79A
36 salpingitis isthmica nodosa 10.5 CD79A HSPA4
37 nephronophthisis 2 10.5 INVS NPHP1 NPHP3 NPHP4
38 juvenile nephronophthisis 10.5 INVS NPHP1 NPHP3 NPHP4
39 nephronophthisis 1 10.5 INVS NPHP1 NPHP3 NPHP4
40 erythema elevatum diutinum 10.5 CD40LG CD79A
41 senior-loken syndrome 1 10.5 INVS NPHP1 NPHP3 NPHP4
42 cystic kidney disease 10.5 INVS NPHP1 NPHP3 NPHP4
43 transient neonatal neutropenia 10.5 CD79A TRIM21
44 trench fever 10.5 CD40LG TNF
45 encephalitozoonosis 10.5 CD40LG TNF
46 sporotrichosis 10.5 CD40LG CD79A
47 nephronophthisis 10.5 INVS NPHP1 NPHP3 NPHP4
48 miller fisher syndrome 10.4 CD40LG TNF
49 fallopian tube disease 10.4 CD40LG CD79A
50 cerebral arteritis 10.4 CD40LG CD79A COL4A3

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 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tinnitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000360
2 keratitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000491
3 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
4 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
5 reduced visual acuity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007663
6 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
7 thrombocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001894
8 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
9 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
10 elevated erythrocyte sedimentation rate 59 32 frequent (33%) Frequent (79-30%) HP:0003565
11 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
12 uveitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000554
13 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
14 aortic regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001659
15 large vessel vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005310
16 scleritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100532
17 episcleritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100534
18 inflammatory abnormality of the eye 59 Frequent (79-30%)
19 vasculitis 59 Occasional (29-5%)

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 10.34 NPHP1 NPHP3 NPHP4 PTPMT1 SMUG1 TNF
2 cardiovascular system MP:0005385 10.23 APPL1 CD40LG COL4A3 GFAP GJB2 INVS
3 hematopoietic system MP:0005397 10.22 CD40LG CD79A COL4A3 CRLF1 INVS NPHP3
4 homeostasis/metabolism MP:0005376 10.21 APPL1 CD40LG CD79A COL4A3 GFAP GJB2
5 mortality/aging MP:0010768 10.19 APPL1 CD40LG COL4A3 CRLF1 GFAP GJB2
6 immune system MP:0005387 10.17 GFAP GJB2 INVS NPHP3 PTPMT1 PTPRJ
7 nervous system MP:0003631 9.93 GFAP GJB2 HSPA4 KCNJ11 NPHP1 NPHP3
8 no phenotypic analysis MP:0003012 9.5 APPL1 CD79A GJB2 KCNJ11 NPHP1 PTPRJ
9 renal/urinary system MP:0005367 9.32 TROVE2 CD40LG CD79A COL4A3 INVS NPHP1

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 Tetrahydrozoline Phase 4
3
Ethanol Approved Phase 3 64-17-5 702
4
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
5 Complement System Proteins Phase 3
6 Micronutrients Phase 3
7 Trace Elements Phase 3
8 Ubiquinone Phase 3
9 Vitamins Phase 3
10 Lecithin Nutraceutical 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 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable
6 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Cogan Syndrome

Cochrane evidence based reviews: cogan syndrome

Genetic Tests for Cogan Syndrome

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:

41
Eye, Liver, Bone, Neutrophil

Publications for Cogan Syndrome

Articles related to Cogan Syndrome:

(show all 29)
# Title Authors Year
1
Cogan Syndrome and Spondyloarthritis: Case Report. ( 29258794 )
2017
2
Atypical Ulcerated Lesions in a Patient With Cogan Syndrome. ( 28160939 )
2017
3
Histopathology of the Human Inner Ear in the Cogan Syndrome with Cochlear Implantation. ( 28848089 )
2017
4
Cogan syndrome: Characteristics, outcome and treatment in a French nationwide retrospective study and literature review. ( 29037902 )
2017
5
Cogan syndrome with severe medium and large vessel vasculitis. ( 27330475 )
2016
6
Endovascular treatment of multiple aneurysms complicating Cogan syndrome. ( 25462550 )
2015
7
Sudden hearing loss and Crohn disease: when Cogan syndrome must be suspected. ( 25841536 )
2015
8
SEROUS NEUROSENSORY RETINAL DETACHMENT ASSOCIATED WITH ATYPICAL COGAN SYNDROME: A CASE REPORT. ( 26426408 )
2015
9
Lamotrigine-induced tubulointerstitial nephritis and uveitis-atypical Cogan syndrome. ( 26350991 )
2015
10
Cogan syndrome--pathogenesis, clinical variants and treatment approaches. ( 24418297 )
2014
11
Childhood Cogan syndrome with aortitis and anti-neutrophil cytoplasmic antibody-associated glomerulonephritis. ( 24803850 )
2014
12
Cochlear implantation in patients with Cogan syndrome: long-term results. ( 25367706 )
2014
13
Cogan syndrome in pregnancy. ( 25004327 )
2014
14
Cogan syndrome presenting after uneventful laser in situ keratomileusis. ( 23889869 )
2013
15
Cogan syndrome: an analysis of reported neurological manifestations. ( 22367829 )
2012
16
Clinical features and outcome of Cogan syndrome. ( 21920537 )
2012
17
Cochlear implant in Cogan syndrome. ( 21171833 )
2011
18
Atypical Cogan syndrome mimicking acute rheumatic fever. ( 21813925 )
2011
19
Long-term evaluation of Cochlear implantation in Cogan syndrome. ( 20798564 )
2010
20
Cogan syndrome: confocal microscopy assessment of corneal damage. ( 20099233 )
2010
21
Cochlear implantation in patients with autoimmune inner ear disease including cogan syndrome: a comparison with age- and sex-matched controls. ( 21082747 )
2010
22
Bilateral cochlear enhancement in Cogan syndrome. ( 19564589 )
2009
23
Male hypogonadism in a patient with Cogan syndrome. ( 19011322 )
2008
24
Inaugural description of Cogan syndrome in an HIV-infected person. ( 18575918 )
2008
25
Uveitis associated with atypical cogan syndrome in children. ( 17998524 )
2007
26
Cogan syndrome: a retrospective review of 60 patients throughout a half century. ( 16610568 )
2006
27
SIR 2006 Annual Meeting Film Panel Case: Budd-Chiari syndrome in a patient with Cogan syndrome. ( 17185682 )
2006
28
Recurrent aortic aneurysms following thoracic aortic stent-graft repair in a patient with Cogan syndrome. ( 17154705 )
2006
29
Cogan syndrome with disfiguring lipid keratopathy. ( 15302674 )
2004

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 CD40LG TNF TNFRSF1B
2
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 cell projection GO:0042995 9.43 GFAP INVS NPHP1 NPHP3 NPHP4 PTPRJ
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 membrane protein ectodomain proteolysis GO:0051044 9.37 TNF TNFRSF1B
2 cellular response to nicotine GO:0071316 9.32 KCNJ11 TNF
3 endothelial cell apoptotic process GO:0072577 9.26 COL4A3 TNF
4 regulation of immunoglobulin secretion GO:0051023 9.16 CD40LG 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 protein binding GO:0005515 9.58 APPL1 CD40LG CD79A COL4A3 CRLF1 GFAP
2 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
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