Coats Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GARD: ¹⁹ 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 genetic changes (acquired, not inherited) in the NDP gene.

MalaCards based summary: Coats Disease, also known as exudative retinopathy, is related to revesz syndrome and dyskeratosis congenita autosomal recessive. An important gene associated with Coats Disease is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are Chromosome Maintenance and Clear cell renal cell carcinoma pathways. The drugs Bevacizumab and Angiogenesis Inhibitors 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

Orphanet: ⁵⁸ Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

Wikipedia: ⁷⁵ Coats' disease is a rare congenital, nonhereditary eye disorder, causing full or partial blindness,... more...

More information from OMIM: 300216

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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 213)

#	Related Disease	Score	Top Affiliating Genes
1	revesz syndrome	32.8	WRAP53 TINF2 NOP10 NHP2 DKC1 CTC1
2	dyskeratosis congenita autosomal recessive	32.1	WRAP53 NOP10 NHP2
3	telangiectasis	31.6	VEGFA NDP CTD
4	retinal detachment	31.5	ZNF408 VEGFA TSPAN12 RHO NDP FZD4
5	macular retinal edema	31.3	VEGFA RHO KDR
6	leukocoria	31.1	ZNF408 TSPAN12 NDP FZD4
7	retinal vascular disease	30.9	ZNF408 VEGFA TSPAN12 RHO NDP KDR
8	vitreoretinopathy	30.8	ZNF408 VEGFA TSPAN12 NDP FZD4
9	macular dystrophy, dominant cystoid	30.4	VEGFA RHO
10	exudative vitreoretinopathy	30.3	ZNF408 VEGFA TSPAN12 RCBTB1 PRSS23 NDP
11	microvascular complications of diabetes 5	30.3	VEGFA RHO KDR
12	norrie disease	30.3	ZNF408 VEGFA TSPAN12 RCBTB1 PRSS23 NDP
13	exudative vitreoretinopathy 1	30.3	ZNF408 VEGFA TSPAN12 RHO PRSS23 NDP
14	retinal vascular occlusion	30.2	VEGFA RHO KDR
15	persistent hyperplastic primary vitreous	30.2	ZNF408 VEGFA TSPAN12 NDP FZD4
16	retinal ischemia	30.2	VEGFA RHO KDR
17	chorioretinal scar	30.2	VEGFA RHO
18	retinal perforation	30.2	VEGFA RHO
19	retinitis pigmentosa	30.2	ZNF408 VEGFA TSPAN12 RHO RCBTB1 NDP
20	peripheral retinal degeneration	30.2	ZNF408 TSPAN12 RHO
21	retinal telangiectasia	30.0	ZNF408 WRAP53 VEGFA TSPAN12 TINF2 RCBTB1
22	fundus dystrophy	30.0	ZNF408 VEGFA TSPAN12 RHO RCBTB1 PRSS23
23	eye disease	29.9	VEGFA TSPAN12 RHO NDP KDR FZD4
24	aplastic anemia	29.8	WRAP53 TINF2 NOP10 NHP2 DKC1
25	dyskeratosis congenita	29.8	WRAP53 TINF2 NOP10 NHP2 DKC1 CTC1
26	cerebroretinal microangiopathy with calcifications and cysts 1	11.3
27	idiopathic macular telangiectasia type 3	11.2
28	idiopathic macular telangiectasia type 1	11.2
29	pediatric-onset glaucoma of genetic origin	11.0
30	retinoblastoma	10.6
31	neovascular glaucoma	10.5
32	strabismus	10.4
33	microcephaly with spastic quadriplegia	10.4	RNF14 PCDH12
34	conjunctival vascular disease	10.4	VEGFA KDR
35	diencephalic-mesencephalic junction dysplasia	10.4	RNF14 PCDH12
36	diencephalic-mesencephalic junction dysplasia syndrome 1	10.4	RNF14 PCDH12
37	blind hypotensive eye	10.4
38	pineocytoma	10.4	RHO ENO2
39	angiokeratoma circumscriptum	10.4	VEGFA KDR
40	carcinoid syndrome	10.3	VEGFA ENO2
41	breast leiomyosarcoma	10.3	VEGFA ENO2
42	large cell carcinoma with rhabdoid phenotype	10.3	VEGFA ENO2
43	retinitis	10.3
44	degeneration of macula and posterior pole	10.3	VEGFA RHO KDR
45	congenital granular cell tumor	10.3	VEGFA ENO2
46	vitreoretinal dystrophy	10.3	ZNF408 TSPAN12
47	cardiovascular organ benign neoplasm	10.3	VEGFA KDR ENO2
48	merkel cell carcinoma	10.3	VEGFA KDR ENO2
49	vitreous disease	10.3	VEGFA RHO NDP FZD4
50	dyskeratosis congenita, autosomal recessive 1	10.3	NOP10 NHP2

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

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Symptoms & Phenotypes for Coats Disease

Human phenotypes related to Coats Disease:

⁵⁸ ³⁰ (show all 11)

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

Clinical features from OMIM®:

300216 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Coats Disease:

⁴⁵

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

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Drugs & Therapeutics for Coats Disease

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

(show all 28)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Bevacizumab

Approved, Investigational

Phase 3

216974-75-3

135329020

2

Angiogenesis Inhibitors

Phase 3

3

Antineoplastic Agents, Immunological

Phase 3

4

Endothelial Growth Factors

Phase 3

5

Mitogens

Phase 3

6

Ranibizumab

Approved

Phase 1, Phase 2

347396-82-1

7

Anecortave

Investigational

Phase 2

10184-70-0

8

Aflibercept

Approved

862111-32-8

124490314

9

Prednisolone phosphate

Approved, Vet_approved

Early Phase 1

302-25-0

10

Dexamethasone acetate

Approved, Investigational, Vet_approved

Early Phase 1

1177-87-3

3680

11

Dexamethasone

Approved, Investigational, Vet_approved

Early Phase 1

50-02-2

3003 5743

12

Prednisolone acetate

Approved, Vet_approved

Early Phase 1

52-21-1

13

Prednisolone

Approved, Vet_approved

Early Phase 1

50-24-8

4894 5755

14

Methylprednisolone hemisuccinate

Approved

Early Phase 1

2921-57-5

1875

15

Methylprednisolone

Approved, Vet_approved

Early Phase 1

83-43-2

4159 6741

16

Prednisolone hemisuccinate

Experimental

Early Phase 1

2920-86-7

4897

17

Antineoplastic Agents, Hormonal

Early Phase 1

18

Neuroprotective Agents

Early Phase 1

19

Hormones

Early Phase 1

20

Hormone Antagonists

Early Phase 1

21

Antiemetics

Early Phase 1

22

Anesthetics

Early Phase 1

23

glucocorticoids

Early Phase 1

24

BB 1101

Early Phase 1

25

Anti-Inflammatory Agents

Early Phase 1

26

Methylprednisolone Acetate

Early Phase 1

584547

27

Gastrointestinal Agents

Early Phase 1

28

Protective Agents

Early Phase 1

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	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
4	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
5	Treatment of Congenital Telangiectasia (Coat's Disease) With Open-label Anecortave Acetate (15mg.)	Completed	NCT00211315	Phase 2	anecortave acetate
6	Treatment of Macular Edema Caused by Leber's Miliary Aneurysms Using Intravitreal Aflibercept and Peripheral Laser Photocoagulation	Unknown status	NCT03908723
7	Optical Coherence Tomography Angiography Findings After Intravitreal Ranibizumab in Patients With Coats Disease	Completed	NCT04310631		Ranibizumab Injection
8	Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History	Completed	NCT04089995
9	The Evaluation of the Safety and Efficacy of Sustained Release Dexamethasone Intracanalicular Insert (DEXTENZA) in Pediatric Patients Following Retinal Surgery or Laser Treatment Under Anesthesia. (TENDER)	Not yet recruiting	NCT05620901	Early Phase 1	Dextenza 0.4Mg Ophthalmic Insert;Pred Forte

Search NIH Clinical Center for Coats Disease

Cochrane evidence based reviews: retinal telangiectasis

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Genetic Tests for Coats Disease

Genetic tests related to Coats Disease:

#	Genetic test	Affiliating Genes
1	Exudative Retinopathy ²⁸

Sources

Anatomical Context for Coats Disease

Organs/tissues related to Coats Disease:

MalaCards : Eye, Retina, Endothelial, Bone Marrow, Bone, Brain

Sources

Publications for Coats Disease

Articles related to Coats Disease:

(show top 50) (show all 837)

#	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. ⁵³ ⁶² ⁵⁷	Black GC...McLeod D	10484772	1999
2	Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. ⁶² ⁵	Vineeth VS...Aggarwal S	30459466	2019
3	Expression of vascular endothelial growth factor in eyes with Coats' disease. ⁶² ⁵⁷	Kase S...Ishida S	23221067	2013
4	Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child. ⁶² ⁵⁷	Shields CL...Shields JA	17563001	2007
5	Coats' disease diagnosed in adulthood. ⁶² ⁵⁷	Smithen LM...Spaide RF	15882905	2005
6	Immunopathologic features of inflammatory coats disease. ⁶² ⁵⁷	Lim WK...Chan CC	15710836	2005
7	Review: coats disease: the 2001 LuEsther T. Mertz lecture. ⁶² ⁵⁷	Shields JA...Shields CL	11884883	2002
8	Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction. ⁵³ ⁶²	Luhmann UF...Berger W	16035034	2005
9	Advanced Coats' disease. ⁵³ ⁶²	Haik BG	1808814	1991
10	Clinicopathological Correlations in Enucleated Globes of Late-Stage Coats Disease with a Review of the Literature. ⁶²	Helmi HA...Alkatan HM	36175755	2022
11	Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP). ⁶²	Lopez-Canizares A...Berrocal AM	36444989	2022
12	Neovascular Glaucoma in Children: A case series and a review of the literature. ⁶²	Nieves-Moreno M...Noval S	35132889	2022
13	Subthreshold micropulse laser for adult onset Coats' associated exudative maculopathy. ⁶²	Kumar A...Mishra SK	33765847	2022
14	Longitudinal characterization and treatment response of retinal arterial macroaneurysms in adult-onset coats disease. ⁶²	Dave AD...Cukras CA	35859699	2022
15	Coats plus in prematurity. ⁶²	Lopez-Canizares A...Berrocal AM	35416114	2022
16	Coats disease in India: clinical presentation and outcome in 675 patients (690 Eyes). ⁶²	Dorji P...Das AV	35987971	2022
17	A Novel Approach to Subretinal Fluid Drainage in Coats'-Related Exudative Retinal Detachment. ⁶²	Blyden K...Hubbard GB	35858234	2022
18	Coats Disease in 9 Patients: A Hispanic Case Series. ⁶²	Barrera-Sanchez M...Rodriguez-Valdes PJ	34911122	2022
19	TWO-YEAR RESULTS OF INTRAVITREAL INJECTIONS OF AFLIBERCEPT IN COATS DISEASE: A CASE REPORT. ⁶²	Georgakopoulos CD...Vavvas D	32541440	2022
20	Coats Disease and Premature Telomere Shortening. ⁶²	Abramson DH...Francis JH	34928768	2022
21	Coats disease in adolescence and adulthood with preserved vision after laser photocoagulation monotherapy: two case reports. ⁶²	Adriono GA...Mahfudz SR	35850730	2022
22	EVIDENCE AGAINST A CONTRALATERAL COATS PHENOTYPE BY OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY. ⁶²	Daruich A...Munier FL	35213527	2022
23	Multimodal imaging of unusual macular macroaneurysm rupture after navigated retinal laser in a patient with adult onset Coats disease. ⁶²	Benlahbib M...Souied EH	35282602	2022
24	Fovea-threatening and fovea-involving peripheral Coats disease: effects of posture and intervention. ⁶²	de Souza EC...Junior HPP	35715849	2022
25	Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease. ⁶²	Lizzio RAU...Nucci P	35679086	2022
26	Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome). ⁶²	Chang MY...Nagiel A	35355858	2022
27	The Masquerading Retinopathy of Revesz Syndrome. ⁶²	Agrawal S...Ramanjulu R	35724369	2022
28	Pseudoretinoblastoma: Distribution based on gender, age, and laterality. ⁶²	Mirzayev I...Tetik D	35570796	2022
29	Treatment of Advanced Coats' Disease With Combination Therapy of Laser Photocoagulation, Intravitreal Ranibizumab, and Sub-Tenon Methylprednisolone Acetate. ⁶²	Petroni S...Buzzonetti L	34928773	2022
30	Plentiful melanin pigment containing histiocyte-like cells in Coats disease: Awareness avoids diagnostic pitfall. ⁶²	Shastri M...Rana V	35158406	2022
31	Unilateral Xanthocoria and Retinal Vascular Anomalies in a 3-Year-Old Boy: Retinoblastoma or Coats Disease? ⁶²	Ahmad S...Wells JR	35603949	2022
32	Imaging Findings of Pediatric Orbital Masses and Tumor Mimics. ⁶²	Joseph AK...Silvera VM	35245105	2022
33	Commentary: Advanced Coats' disease - Is it worth chasing the goal of globe salvage? ⁶²	Singh SR...Dogra M	35502092	2022
34	Long-term follow-up of a case of Coats disease in a 10-year-old boy with spontaneous peeling of preretinal macular fibrosis: a case report. ⁶²	Mizobuchi T...Fukuda K	35477388	2022
35	Wide-field Fundus Imaging and Fluorescein Angiography Findings in Various Pseudoretinoblastoma Conditions. ⁶²	Gunduz AK...Tetik D	35446191	2022
36	Changing trends in pseudoretinoblastoma diagnoses: A 10 year review from the United Kingdom. ⁶²	Badhwar V...Reddy MA	35484797	2022
37	Unilateral peripheral vascular retinal disease associated with a developmental arcade vessel anomaly in adult-onset Coats' disease. ⁶²	Mustafi D...Stacey AW	35198825	2022
38	Dexamethasone intravitreal implant as an adjuvant treatment for pediatric patients with Coats' disease. ⁶²	Dorado AM...Barcelo-Mendiguchia A	35417520	2022
39	Secondary vasoproliferative tumor in adult-onset Coats disease. ⁶²	Ledesma-Gil G...Shields CL	33798454	2022
40	Coats disease masquerading as acute posterior uveitis in a young adult. ⁶²	Lee DY...Sheu SJ	34528375	2022
41	Coats' disease - Prognostic factors for globe and vision salvage in children, a long-term experience. ⁶²	Shanmugam MP...Mishra DK	35086222	2022
42	Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates. ⁶²	Khan AO...Abboud EB	34519236	2022
43	EN BLOC RESECTION OF RETINAL VASOPROLIFERATIVE TUMOR USING 23G VITRECTOMY. A CASE REPORT. ⁶²	Forgac F...Cernak M	35922148	2022
44	Etiology of white pupillary reflex in pediatric age group. ⁶²	Israr M...Gul N	35531443	2022
45	Phenotype of Coats disease in females. ⁶²	Daruich A...Munier FL	35141419	2022
46	Updating Understanding of Macular Microvascular Abnormalities and Their Correlations With the Characteristics and Progression of Macular Edema or Exudation in Coats' Disease. ⁶²	Zhang J...Huang X	35492340	2022
47	Clinical Study of Intravitreal Injection of Anti-VEGF Drugs Combined with Triamcinolone Acetonide in the Treatment of Coats Disease. ⁶²	Wu S...Xiao J	35756410	2022
48	Coats Plus syndrome: a diagnostic and therapeutic challenge in pediatric gastrointestinal hemorrhage. ⁶²	Hosnut FO...Akcaboy M	35286046	2022
49	Coats disease in female population: A comparison of clinical presentation and outcomes. ⁶²	Piquin G...Metge F	35991629	2022
50	Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome. ⁶²	Acharya T...Parker APJ	34110109	2021

Sources

Genes for Coats Disease

Genes related to Coats Disease (4 elite genes):

(show all 37)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FZD4	Frizzled Class Receptor 4	Protein Coding	406.99	Pathogenic ⁵ DISEASES inferred ¹⁴
2	RHO	Rhodopsin	Protein Coding	402.94	Pathogenic ⁵ DISEASES inferred ¹⁴
3	PRSS23	Serine Protease 23	Protein Coding	400	Pathogenic ⁵
4	NDP	Norrin Cystine Knot Growth Factor NDP	Protein Coding	50.46	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	20301506 10484772 16035034
5	RCBTB1	RCC1 And BTB Domain Containing Protein 1	Protein Coding	31.83	Likely pathogenic ⁵ DISEASES inferred ¹⁴
6	PCDH12	Protocadherin 12	Protein Coding	29.37	Likely pathogenic ⁵ DISEASES inferred ¹⁴	30459466
7	RNF14	Ring Finger Protein 14	Protein Coding	25	Likely pathogenic ⁵	30459466
8	CTD	Coats Disease	Genetic Locus	17.09	GeneCards inferred via : Publications Gene name (show sections)
9	CTC1	CST Telomere Replication Complex Component 1	Protein Coding	15.08	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
10	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	13.51	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	KDR	Kinase Insert Domain Receptor	Protein Coding	10.71	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	ENO2	Enolase 2	Protein Coding	8.13	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1808814
13	TSPAN12	Tetraspanin 12	Protein Coding	7.04	DISEASES inferred ¹⁴
14	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	6.95	DISEASES inferred ¹⁴
15	NOP10	NOP10 Ribonucleoprotein	Protein Coding	6.4	DISEASES inferred ¹⁴
16	NHP2	NHP2 Ribonucleoprotein	Protein Coding	6.35	DISEASES inferred ¹⁴
17	WRAP53	WD Repeat Containing Antisense To TP53	Protein Coding	6.24	DISEASES inferred ¹⁴
18	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	6.2	DISEASES inferred ¹⁴
19	ZNF408	Zinc Finger Protein 408	Protein Coding	6.19	DISEASES inferred ¹⁴
20	DUX4L7	Double Homeobox 4 Like 7 (Pseudogene)	Pseudogene	6.1	DISEASES inferred ¹⁴
21	DUX4L8	Double Homeobox 4 Like 8 (Pseudogene)	Pseudogene	6.1	DISEASES inferred ¹⁴
22	DUX4	Double Homeobox 4	Protein Coding	6.09	DISEASES inferred ¹⁴
23	LRP5	LDL Receptor Related Protein 5	Protein Coding	6.08	DISEASES inferred ¹⁴
24	DUX4L1	Double Homeobox 4 Like 1 (Pseudogene)	Pseudogene	6.07	DISEASES inferred ¹⁴
25	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	6.06	DISEASES inferred ¹⁴
26	TEN1	TEN1 Subunit Of CST Complex	Protein Coding	6	DISEASES inferred ¹⁴
27	SMCHD1	Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1	Protein Coding	5.99	DISEASES inferred ¹⁴
28	TERC	Telomerase RNA Component	RNA Gene	5.89	DISEASES inferred ¹⁴
29	SNORD118	Small Nucleolar RNA, C/D Box 118	RNA Gene	5.87	DISEASES inferred ¹⁴
30	RTEL1	Regulator Of Telomere Elongation Helicase 1	Protein Coding	5.76	DISEASES inferred ¹⁴
31	ACD	ACD Shelterin Complex Subunit And Telomerase Recruitment Factor	Protein Coding	5.51	DISEASES inferred ¹⁴
32	TERF1	Telomeric Repeat Binding Factor 1	Protein Coding	5.51	DISEASES inferred ¹⁴
33	PARN	Poly(A)-Specific Ribonuclease	Protein Coding	5.28	DISEASES inferred ¹⁴
34	TERF2IP	TERF2 Interacting Protein	Protein Coding	5.24	DISEASES inferred ¹⁴
35	FRG1	FSHD Region Gene 1	Protein Coding	5.23	DISEASES inferred ¹⁴
36	TERF2	Telomeric Repeat Binding Factor 2	Protein Coding	5.17	DISEASES inferred ¹⁴
37	RS1	Retinoschisin 1	Protein Coding	5.13	DISEASES inferred ¹⁴

Sources

Variations for Coats Disease

ClinVar genetic disease variations for Coats Disease:

⁵

#	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.1282_1285del (p.Asp428fs)	MICROSAT	Pathogenic	224625	rs80358295	GRCh37: 11:86662513-86662516 GRCh38: 11:86951471-86951474
3	FZD4, PRSS23	NM_012193.4(FZD4):c.313A>G (p.Met105Val)	SNV	Pathogenic	224624	rs80358284	GRCh37: 11:86663485-86663485 GRCh38: 11:86952443-86952443
4	RCBTB1	NM_018191.4(RCBTB1):c.707del (p.Asn236fs)	DEL	Likely Pathogenic	224622	rs777630688	GRCh37: 13:50126318-50126318 GRCh38: 13:49552182-49552182
5	PCDH12, RNF14	NM_016580.4(PCDH12):c.2008G>T (p.Glu670Ter)	SNV	Likely Pathogenic	619128	rs531630376	GRCh37: 5:141335409-141335409 GRCh38: 5:141955844-141955844
6	RCBTB1	NM_018191.4(RCBTB1):c.1172+1G>A	SNV	Likely Pathogenic	224621	rs869312819	GRCh37: 13:50118872-50118872 GRCh38: 13:49544736-49544736
7	NDP-AS1, NDP	NM_000266.4(NDP):c.-77A>G	SNV	Uncertain Significance	224623	rs869312820	GRCh37: X:43817968-43817968 GRCh38: X:43958722-43958722

Sources

Expression for Coats Disease

Search GEO for disease gene expression data for Coats Disease.

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Pathways for Coats Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Chromosome Maintenance ⁶⁶ Show member pathways Telomere Maintenance ⁶⁶	11.84	WRAP53 TINF2 NOP10 NHP2 DKC1 CTC1
2	Clear cell renal cell carcinoma pathways ⁷⁴	11.43	VEGFA KDR ENO2
3	Telomere C-strand (Lagging Strand) Synthesis ⁶⁶ Show member pathways Extension of Telomeres ⁶⁶ Leading Strand Synthesis ⁶⁶ Polymerase switching ⁶⁶ Polymerase switching on the C-strand of the telomere ⁶⁶ Processive synthesis on the C-strand of the telomere ⁶⁶ Removal of the Flap Intermediate from the C-strand ⁶⁶ Telomere C-strand synthesis initiation ⁶⁶ Telomere Extension By Telomerase ⁶⁶	11.42	WRAP53 TINF2 NOP10 NHP2 DKC1 CTC1
4	VEGFR2 mediated cell proliferation ⁶⁶	10.76	VEGFA KDR
5	VEGF ligand-receptor interactions ⁶⁶ Show member pathways VEGF binds to VEGFR leading to receptor dimerization ⁶⁶	10.61	VEGFA KDR
6	S1P1 pathway ⁶¹	10.51	VEGFA KDR
7	Robo4 and VEGF signaling pathways crosstalk ⁷⁴	10.03	VEGFA KDR
8	SARS-CoV-2 altering angiogenesis via NRP1 ⁷⁴	9.85	VEGFA KDR

Sources

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	10.01	WRAP53 TINF2 NHP2 CTC1
2	box H/ACA snoRNP complex	GO:0031429	9.73	DKC1 NHP2 NOP10
3	Cajal body	GO:0015030	9.72	WRAP53 NOP10 NHP2 DKC1
4	sno(s)RNA-containing ribonucleoprotein complex	GO:0005732	9.67	NOP10 NHP2
5	box H/ACA telomerase RNP complex	GO:0090661	9.63	DKC1 NHP2 NOP10
6	telomerase holoenzyme complex	GO:0005697	9.56	WRAP53 NOP10 NHP2 DKC1
7	box H/ACA scaRNP complex	GO:0072589	9.1	NOP10 NHP2 DKC1

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	vasculogenesis	GO:0001570	10	VEGFA KDR FZD4
2	telomere capping	GO:0016233	9.85	TINF2 CTC1
3	positive regulation of establishment of protein localization to telomere	GO:1904851	9.84	WRAP53 DKC1
4	vascular wound healing	GO:0061042	9.8	VEGFA KDR
5	retina vasculature morphogenesis in camera-type eye	GO:0061299	9.78	NDP FZD4
6	vascular endothelial growth factor receptor-2 signaling pathway	GO:0036324	9.76	KDR VEGFA
7	telomere maintenance via telomerase	GO:0007004	9.76	WRAP53 NOP10 NHP2 DKC1
8	ribosome biogenesis	GO:0042254	9.73	NOP10 NHP2 DKC1
9	positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway	GO:0038033	9.73	KDR VEGFA
10	positive regulation of telomerase RNA localization to Cajal body	GO:1904874	9.73	NOP10 NHP2 DKC1
11	scaRNA localization to Cajal body	GO:0090666	9.71	DKC1 WRAP53
12	pseudouridine synthesis	GO:0001522	9.69	NOP10 DKC1
13	extracellular matrix-cell signaling	GO:0035426	9.67	NDP FZD4
14	Norrin signaling pathway	GO:0110135	9.62	NDP FZD4
15	snRNA pseudouridine synthesis	GO:0031120	9.43	NOP10 NHP2 DKC1
16	rRNA pseudouridine synthesis	GO:0031118	9.1	NOP10 NHP2 DKC1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	box H/ACA snoRNA binding	GO:0034513	9.43	NOP10 NHP2 DKC1
2	telomerase RNA binding	GO:0070034	9.23	WRAP53 NOP10 NHP2 DKC1

Sources

Sources for Coats Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CTS003 MIFTS: 53	Coats Disease Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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