MCID: CTS003
MIFTS: 53

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 57 12 76 53 59 55 15
Exudative Retinopathy 12 29 6 73
Retinal Telangiectasis 57 53 44
Leber Miliary Aneurysm 53 59
Congenital Retinal Telangiectasia 59
Coats' Syndrome 12
Coats' Disease 12

Characteristics:

Orphanet epidemiological data:

59
coats disease
Inheritance: Not applicable; Prevalence: <1/1000000 (United Kingdom); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

OMIM 57 300216
Disease Ontology 12 DOID:7765
ICD10 33 H35.02 H35.07
ICD9CM 35 362.12
MeSH 44 D058456
Orphanet 59 ORPHA190
MESH via Orphanet 45 D058456
UMLS via Orphanet 74 C0154832
ICD10 via Orphanet 34 H35.0
MedGen 42 C0154832
UMLS 73 C0154832

Summaries for Coats Disease

NIH Rare Diseases : 53 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 neovascular glaucoma and telangiectasis. An important gene associated with Coats Disease is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are Proteoglycans in cancer and Colorectal Cancer Metastasis. 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 glaucoma

Wikipedia : 76 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 83)
# Related Disease Score Top Affiliating Genes
1 neovascular glaucoma 30.5 RS1 VEGFA
2 telangiectasis 30.1 NDP VEGFA
3 macular retinal edema 29.5 CRB1 VEGFA
4 leukocoria 29.3 FZD4 LRP5 NDP
5 macular dystrophy, dominant cystoid 29.3 CRB1 VEGFA
6 persistent hyperplastic primary vitreous 29.3 FZD4 NDP TSPAN12
7 norrie disease 28.4 FZD4 LRP5 NDP TSPAN12
8 fundus dystrophy 28.3 CRB1 RHO RS1
9 retinal disease 27.9 CRB1 NDP RHO RS1
10 exudative vitreoretinopathy 27.7 CTC1 FZD4 LRP5 NDP RCBTB1 TSPAN12
11 retinal detachment 27.3 FZD4 LRP5 NDP RHO RS1 TSPAN12
12 exudative vitreoretinopathy 1 27.2 FZD4 KDR LRP5 NDP TSPAN12 VEGFA
13 retinal telangiectasia 25.2 CRB1 CTC1 FZD4 NDP RCBTB1 TINF2
14 gollop coates syndrome 12.0
15 revesz syndrome 12.0
16 macular telangiectasia type 2 11.4
17 idiopathic macular telangiectasia type 3 11.4
18 idiopathic macular telangiectasia type 1 11.1
19 cerebroretinal microangiopathy with calcifications and cysts 1 11.0
20 eye degenerative disease 10.6 FZD4 VEGFA
21 angiokeratoma circumscriptum 10.5 KDR VEGFA
22 capillary hemangioma 10.5 KDR VEGFA
23 skin hemangioma 10.5 KDR VEGFA
24 radiation proctitis 10.5 KDR VEGFA
25 epithelioid hemangioendothelioma 10.5 KDR VEGFA
26 kuhnt-junius degeneration 10.4 KDR VEGFA
27 acute hemorrhagic leukoencephalitis 10.4 KDR VEGFA
28 hereditary retinal dystrophy 10.4 RHO RS1
29 angiomatous meningioma 10.4 KDR VEGFA
30 cancer-associated retinopathy 10.3 RHO VEGFA
31 retinitis 10.3
32 yemenite deaf-blind hypopigmentation syndrome 10.3 RHO VEGFA
33 leukostasis 10.3 KDR VEGFA
34 lymphangioma 10.2 KDR VEGFA
35 osteoporosis-pseudoglioma syndrome 10.0 FZD4 LRP5 NDP
36 degeneration of macula and posterior pole 10.0 KDR RHO VEGFA
37 retinoblastoma 10.0
38 muscular dystrophy 9.9
39 endotheliitis 9.9
40 macular holes 9.9
41 dyskeratosis congenita 9.9
42 vascular cancer 9.8 KDR VEGFA
43 facioscapulohumeral muscular dystrophy 1 9.8
44 retinitis pigmentosa 9.8
45 aging 9.8
46 leber congenital amaurosis 4 9.8
47 cataract 9.8
48 cornelia de lange syndrome 9.8
49 uveitis 9.8
50 optic disk drusen 9.7 CRB1 RHO

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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
2 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
3 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
4 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
5 abnormality of the retinal vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008046
6 aplasia/hypoplasia of the iris 59 32 occasional (7.5%) Occasional (29-5%) HP:0008053
7 abnormality of the anterior chamber 59 Occasional (29-5%)
8 abnormality of the macula 59 Frequent (79-30%)
9 abnormal anterior chamber morphology 32 occasional (7.5%) HP:0000593
10 abnormal macular morphology 32 frequent (33%) HP:0001103

MGI Mouse Phenotypes related to Coats Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 CRB1 CTC1 FZD4 KDR LRP5 RHO
2 cardiovascular system MP:0005385 9.91 TSPAN12 VEGFA FZD4 KDR LRP5 NDP
3 nervous system MP:0003631 9.91 CRB1 FZD4 KDR LRP5 NDP RHO
4 no phenotypic analysis MP:0003012 9.7 FZD4 KDR NDP RHO TINF2 VEGFA
5 pigmentation MP:0001186 9.43 CRB1 FZD4 LRP5 NDP RHO RS1
6 vision/eye MP:0005391 9.28 CRB1 FZD4 KDR LRP5 NDP 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 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)
3 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 29

Anatomical Context for Coats Disease

MalaCards organs/tissues related to Coats Disease:

41
Eye, Retina, Endothelial, Brain

Publications for Coats Disease

Articles related to Coats Disease:

(show top 50) (show all 301)
# Title Authors Year
1
The efficacy of conbercept or ranibizumab intravitreal injection combined with laser therapy for Coats' disease. ( 29549425 )
2018
2
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN COATS DISEASE. ( 29528979 )
2018
3
Surgical Management of Coats Disease. ( 29664241 )
2018
4
Adult Coats Disease Presenting as Subfoveal Nodule. ( 29681842 )
2018
5
Acute Angle-closure Glaucoma as a First Presentation of Coats' Disease: A Case Report. ( 29176335 )
2018
6
Anterior proliferative vitreoretinopathy in a patient with Coats disease. ( 29487831 )
2018
7
Intravitreal dexamethasone implant with retinal photocoagulation for adult-onset Coats' disease. ( 29380183 )
2018
8
Rapid &amp;quot;epiretinal membrane&amp;quot; development following intravitreal bevacizumab for Coats' disease. ( 29942874 )
2018
9
Coats' disease - disease of the eye rarely encountered by pathologists. ( 29567893 )
2018
10
Long-Term Outcomes of Total Exudative Retinal Detachments in Stage 3B Coats Disease. ( 29361355 )
2018
11
Modified transscleral external drainage of subretinal fluid in high bullous exudative retinal detachment due to Coats' disease. ( 29930459 )
2018
12
Multimodal Imaging in Adult-Onset Coats' Disease. ( 29566865 )
2018
13
Coats disease with exudative retinal detachment simulating cysticercus cyst: misleading ultrasonography! ( 29321199 )
2018
14
Fluorescein Angiographic Abnormalities in the Contralateral Eye with Normal Fundus in Children with Unilateral Coats' Disease. ( 29376220 )
2018
15
Coats' disease with retinochoroidal anastomosis. ( 28757699 )
2017
16
Vitrectomy for full-thickness macular hole in adult-onset Coats' disease. ( 29133668 )
2017
17
Cataract development in children with Coats disease: risk factors and outcome. ( 29289688 )
2017
18
SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY ASSESSMENT OF FELLOW EYES IN COATS DISEASE. ( 29252973 )
2017
19
YOUNGER AGE AT PRESENTATION IN CHILDREN WITH COATS DISEASE IS ASSOCIATED WITH MORE ADVANCED STAGE AND WORSE VISUAL PROGNOSIS: A Retrospective Study. ( 29065013 )
2017
20
Optical Coherence Tomography Angiography in Children with Leber-Coats Disease. ( 28803250 )
2017
21
Vitrectomy for epiretinal membrane in adult-onset Coats' disease. ( 29044085 )
2017
22
Refining Coats' disease by ultra-widefield imaging and optical coherence tomography angiography. ( 28875282 )
2017
23
Coats' disease: not such a smooth ride. ( 28884344 )
2017
24
Coats' Disease-Related Macular Edema Treated with Combined Aflibercept and Laser Photocoagulation. ( 29379657 )
2017
25
String of Pearls: Macroaneurysms in Coats Disease. ( 28820931 )
2017
26
Cyclophotocoagulation-induced sympathetic ophthalmia in a Coats' disease patient supported by histopathology and immunohistochemistry. ( 28820164 )
2017
27
Angio-OCT findings in Coats' disease. ( 28526523 )
2017
28
Optical Coherence Tomography and Optical Coherence Tomography Angiography in Monitoring Coats' Disease. ( 28377823 )
2017
29
Serum hypercoagulability states in Coats' disease. ( 28223774 )
2017
30
Early onset coats' disease initially treated as unilateral ROP at 39A weeks postmenstrual age: a case report. ( 28814287 )
2017
31
Comparison of Visual Outcomes in Coats' Disease: A 20-Year Experience. ( 28461016 )
2017
32
Uveal Melanoma Mimicking Advanced Coats' Disease in a Young Patient. ( 27239453 )
2016
33
SUBFOVEAL NODULE IN COATS' DISEASE: Toward an Updated Classification Predicting Visual Prognosis. ( 28030429 )
2016
34
Teaching NeuroImages: Coats disease revealing facioscapulohumeral muscular dystrophy. ( 27462044 )
2016
35
Intravitreal bevacizumab injections combined with laser photocoagulation for adult-onset Coats' disease. ( 27270347 )
2016
36
INTRAVITREAL RANIBIZUMAB AS AN ADJUNCTIVE TREATMENT FOR COATS DISEASE (6-YEAR FOLLOW-UP). ( 27472513 )
2016
37
&amp;quot;Mommy... I Can't See With My Eye&amp;quot;. Coats disease with foveal exudation (Stage 2b). ( 27018878 )
2016
38
Intravitreal Bevacizumab as an adjunct to laser in the management of adult onset Coats' disease. ( 27234923 )
2016
39
A Case of Coats Disease and Concurrent Anisometropic Amblyopia. ( 28090595 )
2016
40
Ultra-wide field imaging in the diagnosis and management of adult-onset Coats' disease. ( 27476647 )
2016
41
LONG-TERM ANATOMICAL AND FUNCTIONAL OUTCOMES FOLLOWING VITRECTOMY FOR ADVANCED COATS DISEASE. ( 27984550 )
2016
42
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. ( 26908610 )
2016
43
Coats' disease with macular oedema responsive to aflibercept and argon laser. ( 28038924 )
2016
44
Optical Coherence Tomography Angiography Findings in Coats' Disease. ( 27549879 )
2016
45
A Case of Anterior Chamber Cholesterolosis Due to Coats' Disease and a Review of Reported Cases. ( 27014384 )
2016
46
Coats' Disease: Very Long-Term Outcome After Early Stage Conventional Treatment. ( 27014383 )
2016
47
EXTRAMACULAR FIBROSIS IN COATS' DISEASE. ( 26991649 )
2016
48
Risk of Tractional Retinal Detachment Following Intravitreal Bevacizumab Along with Subretinal Fluid Drainage and Cryotherapy for Stage 3B Coats' Disease. ( 27162454 )
2016
49
Coats' disease of adult-onset in 48 eyes. ( 27609165 )
2016
50
Optical Coherence Tomography Angiography Findings in Coats' Disease. ( 27434894 )
2016

Variations for Coats Disease

ClinVar genetic disease variations for Coats Disease:

6
(show all 12)
# 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

Expression for Coats Disease

Search GEO for disease gene expression data for Coats Disease.

Pathways for Coats Disease

GO Terms for Coats Disease

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.77 FZD4 LRP5 NDP
2 visual perception GO:0007601 9.75 NDP RHO RS1
3 positive regulation of DNA binding transcription factor activity GO:0051091 9.63 FZD4 LRP5 NDP
4 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.58 KDR VEGFA
5 canonical Wnt signaling pathway GO:0060070 9.58 FZD4 LRP5 NDP
6 telomere capping GO:0016233 9.57 CTC1 TINF2
7 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.56 KDR VEGFA
8 positive regulation of mesenchymal cell proliferation GO:0002053 9.55 LRP5 VEGFA
9 positive regulation of focal adhesion assembly GO:0051894 9.54 KDR VEGFA
10 retina layer formation GO:0010842 9.52 RS1 TSPAN12
11 negative regulation of telomere maintenance via telomerase GO:0032211 9.51 CTC1 TINF2
12 vasculogenesis GO:0001570 9.5 FZD4 KDR VEGFA
13 eye photoreceptor cell development GO:0042462 9.49 CRB1 VEGFA
14 cell migration involved in sprouting angiogenesis GO:0002042 9.48 KDR VEGFA
15 positive regulation of positive chemotaxis GO:0050927 9.43 KDR VEGFA
16 bone marrow development GO:0048539 9.37 CTC1 LRP5
17 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.26 KDR VEGFA
18 retinal blood vessel morphogenesis GO:0061304 9.16 FZD4 LRP5
19 retina vasculature morphogenesis in camera-type eye GO:0061299 9.13 FZD4 LRP5 NDP
20 extracellular matrix-cell signaling GO:0035426 8.8 FZD4 LRP5 NDP

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

# Name GO ID Score Top Affiliating Genes
1 Wnt-protein binding GO:0017147 9.16 FZD4 LRP5
2 telomeric DNA binding GO:0042162 8.96 CTC1 TINF2
3 Wnt-activated receptor activity GO:0042813 8.8 FZD4 LRP5 TSPAN12

Sources for Coats Disease

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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