MCID: CTS003
MIFTS: 42

Coats Disease

Categories: Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Coats Disease

MalaCards integrated aliases for Coats Disease:

Name: Coats Disease 53 12 72 49 55 51 14
Retinal Telangiectasis 53 49 41
Exudative Retinopathy 12 28 69
Leber Miliary Aneurysm 49 55
Congenital Retinal Telangiectasia 55
Coats' Syndrome 12
Coats' Disease 12

Characteristics:

Orphanet epidemiological data:

55
coats disease
Inheritance: Not applicable; Prevalence: <1/1000000 (United Kingdom); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

OMIM 53 300216
Disease Ontology 12 DOID:7765
ICD10 32 H35.02 H35.07
ICD9CM 34 362.12
MeSH 41 D058456
Orphanet 55 ORPHA190
MESH via Orphanet 42 D058456
UMLS via Orphanet 70 C0154832
ICD10 via Orphanet 33 H35.0
MedGen 39 C0154832
UMLS 69 C0154832

Summaries for Coats Disease

NIH Rare Diseases : 49 Coats disease is an eye disorder characterized by abnormal development of the blood vesselsĀ in the retina (retinal telangiectasia). Most people begin showing symptoms in childhood. Early signs and symptoms vary but may include vision loss, "crossed eyes" (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Over time, Coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts). In most cases, only one eye is affected. Coats disease is not inherited and the underlying cause is not known. It has been theorized that some cases may be due to somatic mutations (acquired, not inherited) in the NDP gene. Treatment depends on the symptoms present and may include cryotherapy and laser photocoagulation (alone or in combination), steroids for inflammation, and/or surgery for retinal detachment. Last updated: 8/17/2017

MalaCards based summary : Coats Disease, also known as retinal telangiectasis, is related to gollop coates syndrome and revesz syndrome, and has symptoms including cataract, strabismus and abnormality of the retinal vasculature. An important gene associated with Coats Disease is FZD4 (Frizzled Class Receptor 4). The drugs Ranibizumab and Anecortave have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial.

Wikipedia : 72 Coats\' disease, (also known as exudative retinitis or retinal telangiectasis, sometimes spelled... more...

Description from OMIM: 300216

Related Diseases for Coats Disease

Diseases related to Coats Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 gollop coates syndrome 12.0
2 revesz syndrome 11.9
3 idiopathic macular telangiectasia type 3 11.4
4 idiopathic juxtafoveal retinal telangiectasia 11.1
5 idiopathic macular telangiectasia type 1 11.1
6 cerebroretinal microangiopathy with calcifications and cysts 1 11.0
7 retinitis 10.3
8 retinal detachment 10.0
9 retinoblastoma 10.0
10 muscular dystrophy 9.9
11 endotheliitis 9.9
12 fibrosis of extraocular muscles, congenital, 1 9.9
13 macular holes 9.9
14 dyskeratosis congenita 9.9
15 hydrops, lactic acidosis, and sideroblastic anemia 9.9
16 macular retinal edema 9.9
17 telangiectasis 9.8
18 facioscapulohumeral muscular dystrophy 1 9.7
19 retinitis pigmentosa 9.7
20 aging 9.7
21 leber congenital amaurosis 4 9.7
22 cataract 9.7
23 cornelia de lange syndrome 9.7
24 uveitis 9.7
25 neovascular glaucoma 9.7
26 senior-loken syndrome 1 9.7
27 retinoschisis 1, x-linked, juvenile 9.7
28 exudative vitreoretinopathy 9.7
29 turner syndrome 9.7
30 exudative vitreoretinopathy 1 9.5
31 melanoma, uveal 9.5
32 neurofibromatosis, type iv, of riccardi 9.5
33 nevus, epidermal 9.5
34 sturge-weber syndrome 9.5
35 vitreoretinopathy, neovascular inflammatory 9.5
36 takayasu arteritis 9.5
37 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.5
38 plasminogen deficiency, type i 9.5
39 fanconi anemia, complementation group a 9.5
40 hallermann-streiff syndrome 9.5
41 muscular dystrophy, duchenne type 9.5
42 norrie disease 9.5
43 retinal vein occlusion 9.5
44 persistent hyperplastic primary vitreous 9.5
45 amblyopia 9.5
46 orbital tenonitis 9.5
47 orbital cellulitis 9.5
48 leukocoria 9.5
49 sympathetic ophthalmia 9.5
50 von willebrand's disease 9.5

Graphical network of the top 20 diseases related to Coats Disease:



Diseases related to Coats Disease

Symptoms & Phenotypes for Coats Disease

Clinical features from OMIM:

300216

Human phenotypes related to Coats Disease:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
2 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
3 abnormality of the retinal vasculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008046
4 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
5 retinal detachment 55 31 frequent (33%) Frequent (79-30%) HP:0000541
6 aplasia/hypoplasia of the iris 55 31 occasional (7.5%) Occasional (29-5%) HP:0008053
7 abnormality of the macula 55 Frequent (79-30%)
8 abnormality of the anterior chamber 55 Occasional (29-5%)
9 abnormal anterior chamber morphology 31 occasional (7.5%) HP:0000593
10 abnormal macular morphology 31 frequent (33%) HP:0001103

Drugs & Therapeutics for Coats Disease

Drugs for Coats Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
2 Anecortave Investigational Phase 2 10184-70-0
3 Angiogenesis Inhibitors Phase 2,Phase 1
4 Angiogenesis Modulating Agents Phase 2,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Congenital Telangiectasia (Coat's Disease) With Open-label Anecortave Acetate (15mg.) Completed NCT00211315 Phase 2 anecortave acetate
2 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)

Search NIH Clinical Center for Coats Disease

Cochrane evidence based reviews: retinal telangiectasis

Genetic Tests for Coats Disease

Genetic tests related to Coats Disease:

# Genetic test Affiliating Genes
1 Exudative Retinopathy 28

Anatomical Context for Coats Disease

MalaCards organs/tissues related to Coats Disease:

38
Eye, Retina, Endothelial, Brain

Publications for Coats Disease

Articles related to Coats Disease:

(show top 50) (show all 289)
# Title Authors Year
1
Intravitreal dexamethasone implant with retinal photocoagulation for adult-onset Coats' disease. ( 29380183 )
2018
2
Acute Angle-closure Glaucoma as a First Presentation of Coats' Disease: A Case Report. ( 29176335 )
2018
3
Long-Term Outcomes of Total Exudative Retinal Detachments in Stage 3B Coats Disease. ( 29361355 )
2018
4
Coats disease with exudative retinal detachment simulating cysticercus cyst: misleading ultrasonography! ( 29321199 )
2018
5
Fluorescein Angiographic Abnormalities in the Contralateral Eye with Normal Fundus in Children with Unilateral Coats' Disease. ( 29376220 )
2018
6
Serum hypercoagulability states in Coats' disease. ( 28223774 )
2017
7
Vitrectomy for epiretinal membrane in adult-onset Coats' disease. ( 29044085 )
2017
8
Cataract development in children with Coats disease: risk factors and outcome. ( 29289688 )
2017
9
Coats' Disease-Related Macular Edema Treated with Combined Aflibercept and Laser Photocoagulation. ( 29379657 )
2017
10
Vitrectomy for full-thickness macular hole in adult-onset Coats' disease. ( 29133668 )
2017
11
Early onset coats' disease initially treated as unilateral ROP at 39A weeks postmenstrual age: a case report. ( 28814287 )
2017
12
String of Pearls: Macroaneurysms in Coats Disease. ( 28820931 )
2017
13
Comparison of Visual Outcomes in Coats' Disease: A 20-Year Experience. ( 28461016 )
2017
14
Optical Coherence Tomography and Optical Coherence Tomography Angiography in Monitoring Coats' Disease. ( 28377823 )
2017
15
Refining Coats' disease by ultra-widefield imaging and optical coherence tomography angiography. ( 28875282 )
2017
16
YOUNGER AGE AT PRESENTATION IN CHILDREN WITH COATS DISEASE IS ASSOCIATED WITH MORE ADVANCED STAGE AND WORSE VISUAL PROGNOSIS: A Retrospective Study. ( 29065013 )
2017
17
Coats' disease: not such a smooth ride. ( 28884344 )
2017
18
Optical Coherence Tomography Angiography in Children with Leber-Coats Disease. ( 28803250 )
2017
19
Cyclophotocoagulation-induced sympathetic ophthalmia in a Coats' disease patient supported by histopathology and immunohistochemistry. ( 28820164 )
2017
20
Angio-OCT findings in Coats' disease. ( 28526523 )
2017
21
Coats' disease with retinochoroidal anastomosis. ( 28757699 )
2017
22
SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY ASSESSMENT OF FELLOW EYES IN COATS DISEASE. ( 29252973 )
2017
23
Optical Coherence Tomography Angiography Findings in Coats' Disease. ( 27434894 )
2016
24
Coats' disease of adult-onset in 48 eyes. ( 27609165 )
2016
25
EXTRAMACULAR FIBROSIS IN COATS' DISEASE. ( 26991649 )
2016
26
A Case of Coats Disease and Concurrent Anisometropic Amblyopia. ( 28090595 )
2016
27
INTRAVITREAL RANIBIZUMAB AS AN ADJUNCTIVE TREATMENT FOR COATS DISEASE (6-YEAR FOLLOW-UP). ( 27472513 )
2016
28
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. ( 26908610 )
2016
29
A Case of Anterior Chamber Cholesterolosis Due to Coats' Disease and a Review of Reported Cases. ( 27014384 )
2016
30
Optical Coherence Tomography Angiography Findings in Coats' Disease. ( 27549879 )
2016
31
Evaluation of Follow-Up and Treatment Results in Coats' Disease. ( 28058165 )
2016
32
Uveal Melanoma Mimicking Advanced Coats' Disease in a Young Patient. ( 27239453 )
2016
33
Risk of Tractional Retinal Detachment Following Intravitreal Bevacizumab Along with Subretinal Fluid Drainage and Cryotherapy for Stage 3B Coats' Disease. ( 27162454 )
2016
34
Teaching NeuroImages: Coats disease revealing facioscapulohumeral muscular dystrophy. ( 27462044 )
2016
35
Subretinal Fluid Drainage and Vitrectomy Are Helpful in Diagnosing and Treating Eyes with Advanced Coats' Disease. ( 27462247 )
2016
36
SUBFOVEAL NODULE IN COATS' DISEASE: Toward an Updated Classification Predicting Visual Prognosis. ( 28030429 )
2016
37
Differences in aqueous concentrations of cytokines in paediatric and adult patients with Coats' disease. ( 27364629 )
2016
38
Coats' disease and retrobulbar haemodynamics. ( 26686879 )
2016
39
Coats' disease with macular oedema responsive to aflibercept and argon laser. ( 28038924 )
2016
40
"Mommy... I Can't See With My Eye". Coats disease with foveal exudation (Stage 2b). ( 27018878 )
2016
41
Ultra-wide field imaging in the diagnosis and management of adult-onset Coats' disease. ( 27476647 )
2016
42
Successful use of intravitreal ranibizumab injection and combined treatment in the management of Coats' disease. ( 27150442 )
2016
43
Coats' Disease: Very Long-Term Outcome After Early Stage Conventional Treatment. ( 27014383 )
2016
44
Intravitreal bevacizumab injections combined with laser photocoagulation for adult-onset Coats' disease. ( 27270347 )
2016
45
Intravitreal Bevacizumab as an adjunct to laser in the management of adult onset Coats' disease. ( 27234923 )
2016
46
Retinoblastoma versus advanced Coats' disease: Is enucleation the answer? ( 27435805 )
2016
47
iTRAQ-Based Proteomics Investigation of Aqueous Humor from Patients with Coats' Disease. ( 27416065 )
2016
48
Treatment of Coats' Disease With Combination Therapy of Intravitreal Bevacizumab, Laser Photocoagulation, and Sub-Tenon Corticosteroids. ( 27183548 )
2016
49
LONG-TERM ANATOMICAL AND FUNCTIONAL OUTCOMES FOLLOWING VITRECTOMY FOR ADVANCED COATS DISEASE. ( 27984550 )
2016
50
577-NM YELLOW LASER PHOTOCOAGULATION FOR COATS DISEASE. ( 26579790 )
2015

Variations for Coats Disease

ClinVar genetic disease variations for Coats Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FZD4 NM_012193.3(FZD4): c.1282_1285delGACA (p.Asp428Serfs) deletion Pathogenic rs80358295 GRCh37 Chromosome 11, 86662513: 86662516
2 FZD4 NM_012193.3(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 GRCh38 Chromosome 11, 86952443: 86952443
3 RCBTB1 NM_018191.3(RCBTB1): c.1172+1G> A single nucleotide variant Likely pathogenic rs869312819 GRCh37 Chromosome 13, 50118872: 50118872
4 RCBTB1 NM_018191.3(RCBTB1): c.707delA (p.Asn236Thrfs) deletion Likely pathogenic rs777630688 GRCh37 Chromosome 13, 50126318: 50126318

Expression for Coats Disease

Search GEO for disease gene expression data for Coats Disease.

Pathways for Coats Disease

GO Terms for Coats Disease

Sources for Coats 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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