MCID: CTS003
MIFTS: 51

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 57 12 73 20 58 54 15
Exudative Retinopathy 12 29 6 70
Retinal Telangiectasis 57 20 44
Leber Miliary Aneurysm 20 58
Congenital Retinal Telangiectasia 58
Coats' Syndrome 12
Coats' Disease 12

Characteristics:

Orphanet epidemiological data:

58
coats disease
Inheritance: Not applicable; Prevalence: <1/1000000 (United Kingdom); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

31
coats disease:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:7765
OMIM® 57 300216
ICD9CM 34 362.12
MeSH 44 D058456
SNOMED-CT 67 193359003
ICD10 32 H35.02
MESH via Orphanet 45 D058456
ICD10 via Orphanet 33 H35.0
UMLS via Orphanet 71 C0154832
Orphanet 58 ORPHA190
MedGen 41 C0154832
UMLS 70 C0154832

Summaries for Coats Disease

GARD : 20 Coats disease is an eye disorder characterized by abnormal development of the blood vessels 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 telangiectasis. An important gene associated with Coats Disease is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are Chromosome Maintenance and Ribosome biogenesis in eukaryotes. The drugs Bevacizumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are strabismus and abnormal retinal vascular morphology

Wikipedia : 73 Coats' disease, is a rare congenital, nonhereditary eye disorder, causing full or partial blindness,... more...

More information 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 185)
# Related Disease Score Top Affiliating Genes
1 revesz syndrome 32.7 WRAP53 TINF2 NOP10 NHP2 DKC1 CTC1
2 telangiectasis 31.6 VEGFA NDP-AS1 NDP CTD
3 neovascular glaucoma 31.3 VEGFA RS1 KDR
4 macular retinal edema 31.3 VEGFA RHO KDR
5 retinal detachment 31.1 ZNF408 VEGFA TSPAN12 RS1 RHO NDP-AS1
6 leukocoria 30.9 ZNF408 TSPAN12 RS1 NDP FZD4
7 retinal vascular disease 30.8 ZNF408 VEGFA TSPAN12 RHO NDP KDR
8 vitreoretinopathy 30.5 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP-AS1 NDP
9 persistent hyperplastic primary vitreous, autosomal recessive 30.5 TSPAN12 NDP-AS1 NDP
10 microvascular complications of diabetes 5 30.3 VEGFA RHO KDR
11 retinal telangiectasia 30.2 WRAP53 VEGFA TSPAN12 TINF2 NOP10 NHP2
12 norrie disease 30.2 ZNF408 TSPAN12 PRSS23 NDP-AS1 NDP FZD4
13 persistent hyperplastic primary vitreous 30.1 ZNF408 VEGFA TSPAN12 NDP-AS1 NDP FZD4
14 pathologic nystagmus 30.1 RHO NDP-AS1 NDP
15 exudative vitreoretinopathy 30.1 ZNF408 VEGFA TSPAN12 RCBTB1 PRSS23 NDP-AS1
16 exudative vitreoretinopathy 1 30.0 ZNF408 VEGFA TSPAN12 RHO PRSS23 NDP
17 eye disease 30.0 VEGFA RS1 RHO NDP KDR
18 fundus dystrophy 29.7 ZNF408 VEGFA TSPAN12 RS1 RHO RCBTB1
19 dyskeratosis congenita 29.7 WRAP53 TINF2 NOP10 NHP2 DKC1 CTC1
20 aplastic anemia 29.7 WRAP53 VEGFA TINF2 NOP10 NHP2 DKC1
21 cerebroretinal microangiopathy with calcifications and cysts 1 11.2
22 macular telangiectasia type 2 11.2
23 idiopathic macular telangiectasia type 3 11.2
24 idiopathic macular telangiectasia type 1 11.1
25 retinoblastoma 10.6
26 patterned macular dystrophy 10.4 VEGFA RHO
27 bullous retinoschisis 10.4 VEGFA RS1
28 large cell carcinoma with rhabdoid phenotype 10.4 VEGFA ENO2
29 ischemic neuropathy 10.4 VEGFA NDP
30 retroperitoneal hemangiopericytoma 10.4 VEGFA ENO2
31 strabismus 10.4
32 mechanical strabismus 10.4
33 radiation proctitis 10.4 VEGFA KDR
34 angiokeratoma circumscriptum 10.4 VEGFA KDR
35 chorioretinal scar 10.4 VEGFA RHO
36 exudative vitreoretinopathy 3 10.4 TSPAN12 NDP FZD4
37 exudative vitreoretinopathy 2, x-linked 10.4 NDP-AS1 NDP FZD4
38 epithelioid hemangioendothelioma 10.4 VEGFA KDR
39 pineocytoma 10.4 RHO ENO2
40 exudative vitreoretinopathy 4 10.4 TSPAN12 NDP FZD4
41 blind hypotensive eye 10.4
42 macular dystrophy, dominant cystoid 10.4 VEGFA RS1 RHO
43 choroid disease 10.3 VEGFA RS1 RHO
44 cancer-associated retinopathy 10.3 VEGFA RHO ENO2
45 carcinoid syndrome 10.3 VEGFA ENO2
46 neuroretinitis 10.3
47 primary cutaneous b-cell lymphoma 10.3 VEGFA KDR
48 sorsby fundus dystrophy 10.3 VEGFA RHO KDR
49 degeneration of macula and posterior pole 10.3 VEGFA RHO KDR
50 cardiovascular organ benign neoplasm 10.3 VEGFA KDR ENO2

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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
2 abnormal retinal vascular morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008046
3 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
4 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
5 abnormal macular morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001103
6 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
7 aplasia/hypoplasia of the iris 58 31 occasional (7.5%) Occasional (29-5%) HP:0008053
8 abnormal anterior chamber morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000593
9 leukocoria 31 HP:0000555
10 retinal telangiectasia 31 HP:0007763
11 exudative retinal detachment 31 HP:0012231

Clinical features from OMIM®:

300216 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Coats Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.23 CTC1 DKC1 FZD4 KDR NDP RHO

Drugs & Therapeutics for Coats Disease

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 3 216974-75-3
2 Antineoplastic Agents, Immunological Phase 3
3 Angiogenesis Inhibitors Phase 3
4 Mitogens Phase 3
5 Endothelial Growth Factors Phase 3
6
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
7 Anecortave Investigational Phase 2 10184-70-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter Randomized Controlled Trial on the Interest of Intravitreal Injections of Anti-VEGF as Initial and Adjuvant Treatment in Coats Disease Recruiting NCT03940690 Phase 3 Anti-VEGF injections of bevacizumab
2 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy With Intravitreal Injection of Lucentis (Ranibizumab Injection) Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
3 Treatment of Congenital Telangiectasia (Coat's Disease) With Open-label Anecortave Acetate (15mg.) Completed NCT00211315 Phase 2 anecortave acetate
4 A Phase 2, Open-label, Multi-centre Study to Assess the Efficacy and Safety of Intravitreal THR-317 for the Treatment of Macular Telangiectasia Type 1 (MacTel 1) Completed NCT03669393 Phase 2 THR-317 8mg
5 Ranibizumab in Idiopathic Macular Telangiectasia, Type 2. A Prospective Interventional Non-randomized Study Comparing the Efficacy and Safety of Intravitreal Ranibizumab in Type 2 Idiopathic Macular Telangiectasia. Completed NCT00504400 Phase 2 Intravitreal injection ranibizumab
6 Optical Coherence Tomography Angiography Findings After Intravitreal Ranibizumab in Patients With Coats Disease Completed NCT04310631 Ranibizumab Injection
7 Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History Completed NCT04089995
8 Treatment of Macular Edema Caused by Leber's Miliary Aneurysms Using Intravitreal Aflibercept and Peripheral Laser Photocoagulation Recruiting NCT03908723

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:

40
Eye, Retina, Endothelial, Bone Marrow, Bone, Heart, Lung

Publications for Coats Disease

Articles related to Coats Disease:

(show top 50) (show all 668)
# Title Authors PMID Year
1
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. 61 57 54
10484772 1999
2
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 6 61
30459466 2019
3
Expression of vascular endothelial growth factor in eyes with Coats' disease. 61 57
23221067 2013
4
Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child. 61 57
17563001 2007
5
Coats' disease diagnosed in adulthood. 57 61
15882905 2005
6
Immunopathologic features of inflammatory coats disease. 57 61
15710836 2005
7
Review: coats disease: the 2001 LuEsther T. Mertz lecture. 61 57
11884883 2002
8
Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction. 54 61
16035034 2005
9
Advanced Coats' disease. 61 54
1808814 1991
10
Case of Coats disease associated with neurofibromatosis type 1. 61
33002413 2021
11
Clinical features and prognostic factors in 71 eyes over 20 years from patients with Coats' disease in Korea. 61
33731773 2021
12
Secondary vasoproliferative tumor in adult-onset Coats disease. 61
33798454 2021
13
Subthreshold micropulse laser for adult onset Coats' associated exudative maculopathy. 61
33765847 2021
14
External Drainage Alone Versus External Drainage With Vitrectomy in Advanced Coats Disease. 61
32918903 2021
15
Subretinal Mononuclear Cells in Coats' Disease Studied with RPE65 and CD163: Evidence for Histiocytoid Pigment Epithelial Cells. 61
32950512 2021
16
Experience with Intravitreal Ranibizumab as an Adjunct to Ablation Therapy in Eyes with Exudative Coats' Disease. 61
33542620 2021
17
Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes. 61
32507488 2021
18
Macular fibrosis in Coats' disease demonstrated by Optical Coherence Tomography Angiography - new data toward pathophysiology. 61
33426922 2021
19
Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A case report. 61
33010065 2021
20
Three-year follow-up of Coats disease treated with conbercept and 532-nm laser photocoagulation. 61
33392305 2020
21
MR Imaging Features to Differentiate Retinoblastoma from Coats' Disease and Persistent Fetal Vasculature. 61
33266342 2020
22
Fovea-sparing coats disease: A rare clinical entity. 61
33222523 2020
23
Neglected Coats Disease. 61
33090232 2020
24
Vascular findings in primarily affected and fellow eyes of middle-aged patients with Coats' disease using multimodal imaging. 61
33130555 2020
25
[Typical presentation of Coats' disease]. 61
32631691 2020
26
Three-Year Results of Management of Adult-Onset Coats' Disease by Possibly Targeting Placental Growth Factor. 61
33133822 2020
27
Role of blue fundus autofluorescence imaging in differentiating Coats disease from familial exudative vitreoretinopathy. 61
31729069 2020
28
Management of stage 3B Coats disease: presentation of a combined treatment modality and long-term follow-up. 61
32474693 2020
29
Advanced Coats' disease treated with intravitreal brolucizumab combined with laser photocoagulation. 61
32671288 2020
30
Long-Term Clinical Results and Management following Vitrectomy in Undetected Retinoblastoma Eyes. 61
33005613 2020
31
Ocular Manifestations of Chronic Granulomatous Disease: First Report of Coats' Disease and Literature Review. 61
32638195 2020
32
Coats retinopathy with pachychoroid and central serous chorioretinopathy in the fellow eye. 61
32675127 2020
33
Two-year results of intravitreal injections of aflibercept in Coats' Disease; a case report. 61
32541440 2020
34
Coats' Disease Presenting with Macula Star. 61
32507273 2020
35
Levels of cytokines in the aqueous humor guided treatment of refractory macular edema in adult-onset coats' disease. 61
32605612 2020
36
Full-Thickness Macular Hole with Coats Disease: A Case Report. 61
32884548 2020
37
Aqueous humour cytokines profiles in eyes with Coats disease and the association with the severity of the disease. 61
32370768 2020
38
Refractory adult Coats disease treated with dexamethasone intravitreal implant: A case report. 61
32443362 2020
39
Toward the Clinical Application of Therapeutic Angiogenesis Against Pediatric Ischemic Retinopathy. 61
32821736 2020
40
Coats' disease: characteristics, management, outcome, and scleral external drainage with anterior chamber maintainer for stage 3b disease. 61
32311932 2020
41
[Retinoblastoma]. 61
32206913 2020
42
Visual acuity outcomes in Coats disease by classification stage in 160 patients. 61
31177186 2020
43
Endoscopic Surgical Repair of a Giant, Postoperative, Neglected Meningoencephalocele. 61
32133261 2020
44
Optical Coherence Tomography Angiography Findings After Intravitreal Ranibizumab in Patients With Coats Disease. 61
33585512 2020
45
MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY. 61
28850050 2020
46
Efficacy and Safety Outcomes of Intravitreal Dexamethasone Implant Therapy for the Treatment of Adult Coats' Disease. 61
33062317 2020
47
Multiple Therapy Approach for Stage 3 Coats Disease: Long-Term Follow-Up. 61
33178453 2020
48
Von Hippel-Lindau Disease and the Eye. 61
32095212 2020
49
INTRAVITREAL RANIBIZUMAB INJECTION AND RETINAL LASER PHOTOCOAGULATION TREATMENT FOR ADULT-ONSET COATS DISEASE. 61
31913217 2020
50
Visual outcomes after treatment in pediatric patients with Coats' disease. 61
31836093 2019

Variations for Coats Disease

ClinVar genetic disease variations for Coats Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic 523376 rs142285818 GRCh37: 3:129251570-129251570
GRCh38: 3:129532727-129532727
2 FZD4 , PRSS23 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 GRCh37: 11:86663485-86663485
GRCh38: 11:86952443-86952443
3 FZD4 , PRSS23 NM_012193.4(FZD4):c.1278_1281GACA[1] (p.Asp428fs) Microsatellite Pathogenic 224625 rs80358295 GRCh37: 11:86662513-86662516
GRCh38: 11:86951471-86951474
4 RCBTB1 NM_018191.4(RCBTB1):c.707del (p.Asn236fs) Deletion Likely pathogenic 224622 rs777630688 GRCh37: 13:50126318-50126318
GRCh38: 13:49552182-49552182
5 RCBTB1 NM_018191.4(RCBTB1):c.1172+1G>A SNV Likely pathogenic 224621 rs869312819 GRCh37: 13:50118872-50118872
GRCh38: 13:49544736-49544736
6 PCDH12 NM_016580.3(PCDH12):c.2008G>T (p.Glu670Ter) SNV Likely pathogenic 619128 rs531630376 GRCh37: 5:141335409-141335409
GRCh38: 5:141955844-141955844
7 NDP-AS1 , NDP NM_000266.4(NDP):c.-77A>G SNV Uncertain significance 224623 rs869312820 GRCh37: X:43817968-43817968
GRCh38: X:43958722-43958722

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
Show member pathways
11.99 WRAP53 TINF2 NHP2 DKC1
2 11.17 NOP10 NHP2 DKC1
3
Show member pathways
9.83 VEGFA KDR

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 chromosome, telomeric region GO:0000781 9.67 WRAP53 TINF2 NHP2 CTC1
2 Cajal body GO:0015030 9.62 WRAP53 NOP10 NHP2 DKC1
3 photoreceptor inner segment GO:0001917 9.58 RS1 RHO ENO2
4 small nucleolar ribonucleoprotein complex GO:0005732 9.43 NOP10 NHP2
5 box H/ACA telomerase RNP complex GO:0090661 9.43 NOP10 NHP2 DKC1
6 box H/ACA snoRNP complex GO:0031429 9.33 NOP10 NHP2 DKC1
7 box H/ACA scaRNP complex GO:0072589 9.13 NOP10 NHP2 DKC1
8 telomerase holoenzyme complex GO:0005697 8.92 WRAP53 NOP10 NHP2 DKC1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ribosome biogenesis GO:0042254 9.71 NOP10 NHP2 DKC1
2 vasculogenesis GO:0001570 9.65 VEGFA KDR FZD4
3 negative regulation of telomere maintenance via telomerase GO:0032211 9.58 TINF2 CTC1
4 cell migration involved in sprouting angiogenesis GO:0002042 9.57 VEGFA KDR
5 vascular endothelial growth factor signaling pathway GO:0038084 9.56 VEGFA KDR
6 pseudouridine synthesis GO:0001522 9.55 NOP10 DKC1
7 positive regulation of positive chemotaxis GO:0050927 9.52 VEGFA KDR
8 positive regulation of establishment of protein localization to telomere GO:1904851 9.51 WRAP53 DKC1
9 vascular wound healing GO:0061042 9.49 VEGFA KDR
10 retina vasculature morphogenesis in camera-type eye GO:0061299 9.46 NDP FZD4
11 scaRNA localization to Cajal body GO:0090666 9.43 WRAP53 DKC1
12 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.43 NOP10 NHP2 DKC1
13 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.4 VEGFA KDR
14 vascular endothelial growth factor receptor-2 signaling pathway GO:0036324 9.37 VEGFA KDR
15 rRNA pseudouridine synthesis GO:0031118 9.33 NOP10 NHP2 DKC1
16 extracellular matrix-cell signaling GO:0035426 9.32 NDP FZD4
17 telomere maintenance via telomerase GO:0007004 9.26 WRAP53 NOP10 NHP2 DKC1
18 snRNA pseudouridine synthesis GO:0031120 8.8 NOP10 NHP2 DKC1

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

# Name GO ID Score Top Affiliating Genes
1 Wnt-activated receptor activity GO:0042813 9.16 TSPAN12 FZD4
2 box H/ACA snoRNA binding GO:0034513 9.13 NOP10 NHP2 DKC1
3 telomerase RNA binding GO:0070034 8.92 WRAP53 NOP10 NHP2 DKC1

Sources for Coats Disease

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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