MCID: CTS003
MIFTS: 54

Coats Disease

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

Aliases & Classifications for Coats Disease

MalaCards integrated aliases for Coats Disease:

Name: Coats Disease 58 12 77 54 60 56 15
Exudative Retinopathy 12 30 6 74
Retinal Telangiectasis 58 54 45
Leber Miliary Aneurysm 54 60
Congenital Retinal Telangiectasia 60
Coats' Syndrome 12
Coats' Disease 12

Characteristics:

Orphanet epidemiological data:

60
coats disease
Inheritance: Not applicable; Prevalence: <1/1000000 (United Kingdom); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

33
coats disease:
Inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:7765
OMIM 58 300216
ICD9CM 36 362.12
MeSH 45 D058456
SNOMED-CT 69 25506007
ICD10 34 H35.02 H35.07
MESH via Orphanet 46 D058456
ICD10 via Orphanet 35 H35.0
UMLS via Orphanet 75 C0154832
Orphanet 60 ORPHA190
MedGen 43 C0154832
UMLS 74 C0154832

Summaries for Coats Disease

NIH Rare Diseases : 54 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.

MalaCards based summary : Coats Disease, also known as exudative retinopathy, is related to revesz syndrome and neovascular glaucoma. An important gene associated with Coats Disease is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are Proteoglycans in cancer and Signaling events mediated by TCPTP. The drugs Ranibizumab and Anecortave have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are strabismus and abnormality of the retinal vasculature

Wikipedia : 77 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 96)
# Related Disease Score Top Affiliating Genes
1 revesz syndrome 33.4 CTC1 TINF2
2 neovascular glaucoma 30.2 RS1 VEGFA
3 macular retinal edema 30.1 CRB1 VEGFA
4 telangiectasis 30.0 NDP VEGFA
5 leukocoria 29.9 FZD4 NDP
6 macular dystrophy, dominant cystoid 29.6 CRB1 VEGFA
7 persistent hyperplastic primary vitreous 29.4 FZD4 NDP TSPAN12
8 norrie disease 29.4 FZD4 NDP TSPAN12
9 retinal detachment 29.3 FZD4 NDP RHO RS1 TSPAN12 VEGFA
10 exudative vitreoretinopathy 29.3 CTC1 FZD4 NDP RCBTB1 TSPAN12
11 fundus dystrophy 29.1 CRB1 RHO RS1
12 retinal disease 29.0 CRB1 NDP RHO RS1
13 macular degeneration, age-related, 1 29.0 CRB1 KDR RHO VEGFA
14 retinal vascular disease 28.8 FZD4 KDR NDP TSPAN12 VEGFA
15 exudative vitreoretinopathy 1 28.8 FZD4 KDR NDP TSPAN12 VEGFA
16 retinal telangiectasia 27.7 CRB1 CTC1 FZD4 NDP RCBTB1 TINF2
17 gollop coates syndrome 12.2
18 macular telangiectasia type 2 11.6
19 idiopathic macular telangiectasia type 3 11.6
20 idiopathic macular telangiectasia type 1 11.2
21 cerebroretinal microangiopathy with calcifications and cysts 1 11.2
22 eye degenerative disease 10.3 FZD4 VEGFA
23 angiokeratoma circumscriptum 10.3 KDR VEGFA
24 skin hemangioma 10.2 KDR VEGFA
25 radiation proctitis 10.2 KDR VEGFA
26 osteoporosis-pseudoglioma syndrome 10.2 FZD4 NDP
27 epithelioid hemangioendothelioma 10.2 KDR VEGFA
28 capillary hemangioma 10.2 KDR VEGFA
29 cancer-associated retinopathy 10.2 RHO VEGFA
30 hereditary retinal dystrophy 10.2 RHO RS1
31 drug-induced lupus erythematosus 10.2 KDR VEGFA
32 angiomatous meningioma 10.1 KDR VEGFA
33 leukostasis 10.1 KDR VEGFA
34 dyskeratosis congenita 10.1
35 lymphangioma 10.1 KDR VEGFA
36 retinoblastoma 10.1
37 muscular dystrophy 10.1
38 degeneration of macula and posterior pole 10.0 KDR RHO VEGFA
39 retinitis 10.0
40 scapuloperoneal myopathy, myh7-related 10.0
41 angioid streaks 10.0
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
43 ectodermal dysplasia 10.0
44 hemangioma 10.0
45 tuberous sclerosis 10.0
46 vascular disease 10.0
47 cavernous hemangioma 10.0
48 paraplegia 10.0
49 optic disk drusen 9.9 CRB1 RHO VEGFA
50 yemenite deaf-blind hypopigmentation syndrome 9.9 CRB1 RHO VEGFA

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



Diseases related to Coats Disease

Symptoms & Phenotypes for Coats Disease

Human phenotypes related to Coats Disease:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
2 abnormality of the retinal vasculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008046
3 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
4 retinal detachment 60 33 frequent (33%) Frequent (79-30%) HP:0000541
5 abnormal macular morphology 33 frequent (33%) HP:0001103
6 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
7 aplasia/hypoplasia of the iris 60 33 occasional (7.5%) Occasional (29-5%) HP:0008053
8 abnormal anterior chamber morphology 33 occasional (7.5%) HP:0000593
9 abnormality of the macula 60 Frequent (79-30%)
10 retinal telangiectasia 33 HP:0007763
11 leukocoria 33 HP:0000555
12 abnormality of the anterior chamber 60 Occasional (29-5%)
13 exudative retinal detachment 33 HP:0012231

Clinical features from OMIM:

300216

MGI Mouse Phenotypes related to Coats Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.86 CRB1 FZD4 KDR NDP RHO RS1
2 no phenotypic analysis MP:0003012 9.7 CTC1 FZD4 KDR NDP RHO TINF2
3 pigmentation MP:0001186 9.35 CRB1 FZD4 NDP RHO RS1
4 vision/eye MP:0005391 9.28 CRB1 FZD4 KDR NDP PCDH12 RHO

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 Comparative Multicenter Randomized Study of Aflibercept Versus Placebo in Macular Telangiectasia Type 1 Not yet recruiting NCT03845049 Phase 3 Aflibercept Injection [Eylea];SHAM injection
2 Treatment of Congenital Telangiectasia (Coat's Disease) With Open-label Anecortave Acetate (15mg.) Completed NCT00211315 Phase 2 anecortave acetate
3 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)
4 A Study to Evaluate THR-317 Treatment for Macular Telangiectasia Type 1 (MacTel 1) Recruiting NCT03669393 Phase 2 THR-317 8mg
5 Evaluating Control of Hypertension - Effect of Social Determinants Active, not recruiting NCT03545763

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 30

Anatomical Context for Coats Disease

MalaCards organs/tissues related to Coats Disease:

42
Eye, Retina, Endothelial, Brain, Bone, Bone Marrow

Publications for Coats Disease

Articles related to Coats Disease:

(show top 50) (show all 332)
# Title Authors Year
1
An unusual presentation of Coats' disease. ( 30683534 )
2019
2
Anatomical Surgical Outcomes of Patients With Advanced Coats Disease and Coats-Like Detachments: Review of Literature, Novel Surgical Technique, and Subset Analysis in Patients With Facioscapulohumeral Muscular Dystrophy. ( 30789461 )
2019
3
Retinal vasodilatation in the affected eye but reduced pressure autoregulation of both eyes in unilateral Coats' disease. ( 30840364 )
2019
4
Recent advances in the diagnosis and treatment of Coats' disease. ( 30895419 )
2019
5
The efficacy of conbercept or ranibizumab intravitreal injection combined with laser therapy for Coats' disease. ( 29549425 )
2018
6
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN COATS DISEASE. ( 29528979 )
2018
7
Surgical Management of Coats Disease. ( 29664241 )
2018
8
Adult Coats Disease Presenting as Subfoveal Nodule. ( 29681842 )
2018
9
Acute Angle-closure Glaucoma as a First Presentation of Coats' Disease: A Case Report. ( 29176335 )
2018
10
Anterior proliferative vitreoretinopathy in a patient with Coats disease. ( 29487831 )
2018
11
Intravitreal dexamethasone implant with retinal photocoagulation for adult-onset Coats' disease. ( 29380183 )
2018
12
Rapid &amp;quot;epiretinal membrane&amp;quot; development following intravitreal bevacizumab for Coats' disease. ( 29942874 )
2018
13
Coats' disease - disease of the eye rarely encountered by pathologists. ( 29567893 )
2018
14
Long-Term Outcomes of Total Exudative Retinal Detachments in Stage 3B Coats Disease. ( 29361355 )
2018
15
Modified transscleral external drainage of subretinal fluid in high bullous exudative retinal detachment due to Coats' disease. ( 29930459 )
2018
16
Multimodal Imaging in Adult-Onset Coats' Disease. ( 29566865 )
2018
17
Coats disease with exudative retinal detachment simulating cysticercus cyst: misleading ultrasonography! ( 29321199 )
2018
18
Fluorescein Angiographic Abnormalities in the Contralateral Eye with Normal Fundus in Children with Unilateral Coats' Disease. ( 29376220 )
2018
19
Macular Features on Spectral-Domain Optical Coherence Tomography Imaging Associated With Visual Acuity in Coats' Disease. ( 30025132 )
2018
20
A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation. ( 30186147 )
2018
21
SUBCLINICAL MACULAR CHANGES AND DISEASE LATERALITY IN PEDIATRIC COATS DISEASE DETERMINED BY QUANTITATIVE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY. ( 30234852 )
2018
22
Evaluating Retinal Histology Using Multimodal Imaging: A Case Study of Coats Disease. ( 30247366 )
2018
23
Successful resolution of coats disease by photodynamic therapy: a case report. ( 30309339 )
2018
24
Associations of cytokine concentrations in aqueous humour with retinal vascular abnormalities and exudation in Coats' disease. ( 30414256 )
2018
25
What Coats Disease and Age-Related Macular Degeneration Have in Common. ( 30476935 )
2018
26
Comparison of Optical Coherence Tomography With Fundus Photographs, Fluorescein Angiography, and Histopathologic Analysis in Assessing Coats Disease. ( 30476946 )
2018
27
Coats Disease in a Young Adult Man. ( 30543352 )
2018
28
Late exudative retinopathy after laser treatment for retinopathy of prematurity in a child with dyskeratosis congenita. ( 30170046 )
2018
29
Familial Exudative Retinopathy: A Case and Family Analysis. ( 30202620 )
2018
30
Coats' disease with retinochoroidal anastomosis. ( 28757699 )
2017
31
Vitrectomy for full-thickness macular hole in adult-onset Coats' disease. ( 29133668 )
2017
32
Cataract development in children with Coats disease: risk factors and outcome. ( 29289688 )
2017
33
SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY ASSESSMENT OF FELLOW EYES IN COATS DISEASE. ( 29252973 )
2017
34
YOUNGER AGE AT PRESENTATION IN CHILDREN WITH COATS DISEASE IS ASSOCIATED WITH MORE ADVANCED STAGE AND WORSE VISUAL PROGNOSIS: A Retrospective Study. ( 29065013 )
2017
35
Optical Coherence Tomography Angiography in Children with Leber-Coats Disease. ( 28803250 )
2017
36
Vitrectomy for epiretinal membrane in adult-onset Coats' disease. ( 29044085 )
2017
37
Refining Coats' disease by ultra-widefield imaging and optical coherence tomography angiography. ( 28875282 )
2017
38
Coats' disease: not such a smooth ride. ( 28884344 )
2017
39
Coats' Disease-Related Macular Edema Treated with Combined Aflibercept and Laser Photocoagulation. ( 29379657 )
2017
40
String of Pearls: Macroaneurysms in Coats Disease. ( 28820931 )
2017
41
Cyclophotocoagulation-induced sympathetic ophthalmia in a Coats' disease patient supported by histopathology and immunohistochemistry. ( 28820164 )
2017
42
Angio-OCT findings in Coats' disease. ( 28526523 )
2017
43
Optical Coherence Tomography and Optical Coherence Tomography Angiography in Monitoring Coats' Disease. ( 28377823 )
2017
44
Serum hypercoagulability states in Coats' disease. ( 28223774 )
2017
45
Early onset coats' disease initially treated as unilateral ROP at 39A weeks postmenstrual age: a case report. ( 28814287 )
2017
46
Comparison of Visual Outcomes in Coats' Disease: A 20-Year Experience. ( 28461016 )
2017
47
Uveal Melanoma Mimicking Advanced Coats' Disease in a Young Patient. ( 27239453 )
2016
48
SUBFOVEAL NODULE IN COATS' DISEASE: Toward an Updated Classification Predicting Visual Prognosis. ( 28030429 )
2016
49
Teaching NeuroImages: Coats disease revealing facioscapulohumeral muscular dystrophy. ( 27462044 )
2016
50
Intravitreal bevacizumab injections combined with laser photocoagulation for adult-onset Coats' disease. ( 27270347 )
2016

Variations for Coats Disease

ClinVar genetic disease variations for Coats Disease:

6 (show all 14)
# 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.1282_1285delGACA (p.Asp428Serfs) deletion Pathogenic rs80358295 GRCh38 Chromosome 11, 86951471: 86951474
3 FZD4 NM_012193.3(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 GRCh38 Chromosome 11, 86952443: 86952443
4 FZD4 NM_012193.3(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 GRCh37 Chromosome 11, 86663485: 86663485
5 RCBTB1 NM_018191.3(RCBTB1): c.1172+1G> A single nucleotide variant Likely pathogenic rs869312819 GRCh37 Chromosome 13, 50118872: 50118872
6 RCBTB1 NM_018191.3(RCBTB1): c.1172+1G> A single nucleotide variant Likely pathogenic rs869312819 GRCh38 Chromosome 13, 49544736: 49544736
7 RCBTB1 NM_018191.3(RCBTB1): c.707delA (p.Asn236Thrfs) deletion Likely pathogenic rs777630688 GRCh37 Chromosome 13, 50126318: 50126318
8 RCBTB1 NM_018191.3(RCBTB1): c.707delA (p.Asn236Thrfs) deletion Likely pathogenic rs777630688 GRCh38 Chromosome 13, 49552182: 49552182
9 NDP NM_000266.3(NDP): c.-77A> G single nucleotide variant Uncertain significance rs869312820 GRCh37 Chromosome X, 43817968: 43817968
10 NDP NM_000266.3(NDP): c.-77A> G single nucleotide variant Uncertain significance rs869312820 GRCh38 Chromosome X, 43958722: 43958722
11 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh37 Chromosome 3, 129251570: 129251570
12 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh38 Chromosome 3, 129532727: 129532727
13 PCDH12 NM_016580.3(PCDH12): c.2008G> T (p.Glu670Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 141955844: 141955844
14 PCDH12 NM_016580.3(PCDH12): c.2008G> T (p.Glu670Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 141335409: 141335409

Expression for Coats Disease

Search GEO for disease gene expression data for Coats Disease.

Pathways for Coats Disease

Pathways related to Coats Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 FZD4 KDR VEGFA
2
Show member pathways
10.94 KDR VEGFA
3 10.89 KDR VEGFA
4 10.69 KDR VEGFA
5 10 KDR VEGFA

GO Terms for Coats Disease

Cellular components related to Coats Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 8.8 FZD4 PCDH12 RHO

Biological processes related to Coats Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.73 FZD4 NDP TSPAN12
2 visual perception GO:0007601 9.71 NDP RHO RS1
3 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.55 KDR VEGFA
4 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.52 KDR VEGFA
5 telomere capping GO:0016233 9.51 CTC1 TINF2
6 positive regulation of focal adhesion assembly GO:0051894 9.49 KDR VEGFA
7 retina layer formation GO:0010842 9.48 RS1 TSPAN12
8 cell migration involved in sprouting angiogenesis GO:0002042 9.46 KDR VEGFA
9 negative regulation of telomere maintenance via telomerase GO:0032211 9.43 CTC1 TINF2
10 eye photoreceptor cell development GO:0042462 9.4 CRB1 VEGFA
11 vascular endothelial growth factor signaling pathway GO:0038084 9.37 KDR VEGFA
12 vasculogenesis GO:0001570 9.33 FZD4 KDR VEGFA
13 positive regulation of positive chemotaxis GO:0050927 9.32 KDR VEGFA
14 retina vasculature morphogenesis in camera-type eye GO:0061299 9.26 FZD4 NDP
15 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 8.96 KDR VEGFA
16 extracellular matrix-cell signaling GO:0035426 8.62 FZD4 NDP

Molecular functions related to Coats Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomeric DNA binding GO:0042162 8.96 CTC1 TINF2
2 Wnt-activated receptor activity GO:0042813 8.62 FZD4 TSPAN12

Sources for Coats Disease

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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