MCID: CTS003
MIFTS: 51

Coats Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories

Summaries for Coats Disease

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NIH Rare Diseases:41 Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). most affected people begin showing symptoms of the condition 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). overtime, coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts) as the disease progresses. in most cases, only one eye is affected (unilateral). the exact underlying cause is not known but some cases may be due to somatic mutations in the ndp gene. treatment depends on the symptoms present and may include cryotherapy, laser therapy, and/or surgery. last updated: 12/15/2014

MalaCards based summary: Coats Disease, also known as cerebroretinal microangiopathy with calcifications and cysts, is related to vascular disease and retinal vascular disease, and has symptoms including strabismus, abnormality of the retinal vasculature and glaucoma. An important gene associated with Coats Disease is CTC1 (CTS telomere maintenance complex component 1), and among its related pathways are Development VEGF signaling and activation and Pathways in cancer. The compounds octreotide and leucine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related mouse phenotypes are pigmentation and craniofacial.

Genetics Home Reference:21 Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.

Wikipedia:63 Coats? disease, (also known as exudative retinitis or retinal telangiectasis, sometimes spelled Coates\'... more...

Aliases & Classifications for Coats Disease

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Sources:
21Genetics Home Reference, 47Orphanet, 60UMLS, 9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 20GeneTests, 55SNOMED-CT, 33MeSH, 27ICD9CM, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Coats Disease, Aliases & Descriptions:

Name: Coats Disease 9 41 11 43 47
Cerebroretinal Microangiopathy with Calcifications and Cysts 21 47 60
Congenital Retinal Telangiectasia 41 47
Leber Miliary Aneurysm 41 47
Exudative Retinopathy 9 60
Coats Plus Syndrome 21 47
 
Coats' Disease 9 20
Crmcc 21 47
Leber's Miliary Aneurysm 41
Retinal Telangiectasis 41
Coats' Syndrome 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
coats disease:
Inheritance: Not applicable; Prevalence: <1/1000000 (United Kingdom); Age of onset: Childhood; Age of death: normal life expectancy
cerebroretinal microangiopathy with calcifications and cysts:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:7765
MeSH33 D058456
ICD9CM27 362.12
Orphanet47 190, 313838
UMLS via Orphanet61 C0154832
MESH via Orphanet34 D058456
ICD10 via Orphanet26 H35.0

Related Diseases for Coats Disease

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1vascular disease30.5PDCD10, GLMN
2retinal vascular disease30.4NDP, VEGFA
3norrie disease30.4NDP
4retinal detachment30.2IKBKG, NDP, VEGFA, FZD4
5exudative vitreoretinopathy29.6FZD4, IKBKG, NDP, TSPAN12
6retinitis10.7
7revesz syndrome10.5
8aplastic anemia10.5
9dyskeratosis congenita, autosomal dominant 110.5
10gollop coates syndrome10.3
11retinoblastoma10.3
12endotheliitis10.3
13muscular dystrophy10.3
14macular holes10.3
15human venous malformation10.2GLMN, PDCD10
16telangiectasis10.2
17retinitis pigmentosa10.1
18neovascular glaucoma10.1
19uveitis10.1
20klippel-trenaunay-weber syndrome10.1AGGF1, PDCD10, GLMN
21ectodermal dysplasia10.1
22hemangioma10.1
23choroiditis10.1
24tuberous sclerosis10.1
25angioid streaks10.1
26cavernous hemangioma10.1
27melanoma10.1
28paraplegia10.1
29idiopathic juxtafoveal retinal telangiectasia10.1
30spasticity10.1
31idiopathic macular telangiectasia type 110.1
32idiopathic macular telangiectasia type 310.1
33blindness10.1NDP, VEGFA
34exudative vitreoretinopathy 2, x-linked10.1
35dyskeratosis congenita10.1
36polydactyly10.1
37microcephaly10.1
38duodenitis10.1
39cerebritis10.1
40pancytopenia10.1
41duodenal atresia10.1
42retinoschisis10.1
43cataract10.1
44cornelia de lange syndrome10.1
45turner syndrome10.1
46hemangioblastoma10.0VEGFA, ENO2
47progressive hemifacial atrophy10.0
48sympathetic ophthalmia10.0
49cerebroretinal microangiopathy with calcifications and cysts9.9
50plasminogen deficiency, type i9.9

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



Diseases related to coats disease

Symptoms for Coats Disease

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Symptoms:

 47 (show all 9)
  • retinal vascular anomalies/retinal telangiectasia
  • strabismus/squint
  • glaucoma
  • retinal detachment
  • macular dystrophy/absence/hypoplasia of the macula
  • anterior chamber anomaly
  • aniridia/iris hypoplasia
  • cataract/lens opacification
  • visual loss/blindness/amblyopia

HPO human phenotypes related to Coats Disease:

(show all 9)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 abnormality of the retinal vasculature hallmark (90%) HP:0008046
3 glaucoma typical (50%) HP:0000501
4 retinal detachment typical (50%) HP:0000541
5 abnormality of the macula typical (50%) HP:0001103
6 visual impairment occasional (7.5%) HP:0000505
7 cataract occasional (7.5%) HP:0000518
8 abnormality of the anterior chamber occasional (7.5%) HP:0000593
9 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053

Drugs & Therapeutics for Coats Disease

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Drug clinical trials:

Search ClinicalTrials for Coats Disease

Search NIH Clinical Center for Coats Disease

Genetic Tests for Coats Disease

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Genetic tests related to Coats Disease:

id Genetic test Affiliating Genes
1 Coats Disease20

Anatomical Context for Coats Disease

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MalaCards organs/tissues related to Coats Disease:

31
Eye, Retina, Brain, Bone, Endothelial

Animal Models for Coats Disease or affiliated genes

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MGI Mouse Phenotypes related to Coats Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0NDP, IKBKG, FZD4
2MP:00053828.7ENO2, GLMN, PDCD10, VEGFA
3MP:00107718.4PDCD10, IKBKG, CTC1, FZD4, VEGFA
4MP:00053918.1NDP, VEGFA, RBP3, PDCD10, FZD4, TSPAN12
5MP:00053788.0VEGFA, CTC1, GLMN, PDCD10, IKBKG, FZD4
6MP:00053867.9VEGFA, FZD4, PDCD10, ENO2, NDP, IKBKG
7MP:00053857.9IKBKG, VEGFA, TSPAN12, FZD4, PDCD10, GLMN
8MP:00053847.7GLMN, CTC1, ENO2, VEGFA, FZD4, IKBKG
9MP:00036317.5GLMN, NDP, ENO2, RBP3, PDCD10, FZD4

Publications for Coats Disease

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Articles related to Coats Disease:

(show top 50)    (show all 229)
idTitleAuthorsYear
1
An unusual case of Coats disease associated with Takayasu arteritis. (25448151)
2014
2
RANIBIZUMAB IN THE MANAGEMENT OF ADVANCED COATS DISEASE STAGES 3B AND 4: Long-term Outcomes. (25075562)
2014
3
Coats' disease in Tanzania: first case report and literature review. (25352900)
2014
4
Combined treatment for Coats' disease: retinal laser photocoagulation combined with intravitreal bevacizumab injection was effective in two cases. (24666524)
2014
5
Vascular endothelial growth factor in Coats' disease. (23764089)
2013
6
Peripheral retinal nonperfusion in fellow eyes in coats disease. (23974953)
2013
7
Intravitreal ranibizumab in the management of stage 2B Coats disease in a young adult Malay man. (23774706)
2013
8
Treatment of Coats' disease with intravitreal bevacizumab. (23269680)
2013
9
Successful outcome of adult-onset Coats' disease following retinal laser photocoagulation. (24379559)
2013
10
Bevacizumab for Coats' disease with exudative retinal detachment and risk of vitreoretinal traction. (21653215)
2012
11
Adult coats' disease successfully managed with the dexamethasone intravitreal implant (ozurdexAr) combined with retinal photocoagulation. (22548046)
2012
12
Refractory coats' disease of adult onset. (22548045)
2012
13
Over 10 years follow-up of Coats' disease in adulthood. (22205832)
2011
14
Coats' Disease, Turner Syndrome, and von Willebrand Disease in a Patient with Wildtype Norrie Disease Pseudoglioma. (20411871)
2010
15
A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis. (20865031)
2010
16
Combined intravitreal bevacizumab and argon laser treatment for Coats' disease. (19500078)
2010
17
Pediatric retinal detachment due to Coats' disease diagnosed with bedside emergency department ultrasound. (18226872)
2009
18
Coats' disease, megalopapilla and Cornelia de Lange syndrome. (19373684)
2009
19
Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease. (19645389)
2009
20
Resolution of severe macular edema in adult coats' disease with intravitreal triamcinolone and bevacizumab injection. (18784449)
2008
21
Retinoblastoma presenting as Coats' disease. (18049483)
2008
22
Vitrectomy for epimacular membrane secondary to adult-onset Coats' disease. (18556951)
2008
23
Cyclodiode treatment of neovascular glaucoma secondary to Coats' disease. (17446508)
2007
24
Lamellar macular hole as the presenting feature in a child with Coats' disease. (16382565)
2005
25
Selective photocoagulation in Coats' disease: ten-year follow-up. (12510719)
2002
26
Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. (11336930)
2001
27
Extensive brain calcification in two children with bilateral Coats' disease. (10222456)
1999
28
Coats' disease (exudative retinopathy): case report. (9640286)
1998
29
Premacular fibrosis in juvenile Coats' disease with spontaneous peeling after photocoagulation of the congenital vascular anomalies. (9009366)
1996
30
Difficulties in excluding the diagnosis of retinoblastoma in cases of advanced Coats' disease: a clinicopathologic report. (8887390)
1996
31
Coats' disease. (9392769)
1996
32
Coats' disease as a cause of anterior chamber cholesterolosis. (7639669)
1995
33
Proliferative vitreoretinopathy in Coats' disease. Clinicohistopathological case report. (7715928)
1995
34
Coats' disease and Fuchs' heterochromic cyclitis. (22823016)
1994
35
Fuchs'heterochromic uveitis and Coats' disease. (22823119)
1994
36
Coats' disease. (2723326)
1989
37
Cytologic and biochemical examination of the subretinal fluid in diagnosis of Coats' disease. (2763826)
1989
38
Natural history and management of advanced Coats' disease. (3347463)
1988
39
Bilateral Coats' disease in an infant (a clinical, angiographic, light and electron microscopic study). (3556653)
1987
40
Coats' disease: CT-pathologic correlation in two cases. (6849070)
1983
41
Spontaneous regression of retinal lesions in Coats' disease. (7127201)
1982
42
Retinoblastoma simulating Coats' disease: a clinicopathologic report. (900721)
1977
43
Flat preparations of the retinal vessels in Coats' disease. (798026)
1976
44
Coats' disease: occurrence in a four-month-old infant. (4752234)
1973
45
Photocoagulation in Coats' disease. (5283418)
1970
46
Retinitis pigmentosa and Coats' disease. (5635337)
1968
47
Bilateral Coats' disease. Massive gliosis of the retina. (6019559)
1967
48
Coats' disease. (13468856)
1957
49
Coats' disease; a clinical and pathologic study. (14397910)
1955
50
A Case of (?) Coats' Disease. (19985980)
1927

Variations for Coats Disease

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Clinvar genetic disease variations for Coats Disease:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1CTC1CTC1, 4-BP DEL, 724AAAGdeletionPathogenic
2CTC1NM_025099.5(CTC1): c.2959C> T (p.Arg987Trp)single nucleotide variantPathogenicrs202138550GRCh37Chr 17, 8133261: 8133261
3CTC1NM_025099.5(CTC1): c.2611G> A (p.Val871Met)single nucleotide variantPathogenicrs369255297GRCh37Chr 17, 8134652: 8134652
4CTC1NM_025099.5(CTC1): c.775G> A (p.Val259Met)single nucleotide variantPathogenicrs387907080GRCh37Chr 17, 8140710: 8140710
5CTC1NM_025099.5(CTC1): c.2518C> T (p.Arg840Trp)single nucleotide variantPathogenicrs373905859GRCh37Chr 17, 8134745: 8134745
6CTC1CTC1, 1-BP DEL, 2831CdeletionPathogenic
7CTC1NM_025099.5(CTC1): c.3425T> A (p.Leu1142His)single nucleotide variantPathogenicrs201455840GRCh37Chr 17, 8131910: 8131910
8CTC1NM_025099.5(CTC1): c.1994T> G (p.Val665Gly)single nucleotide variantPathogenicrs199473676GRCh37Chr 17, 8135745: 8135745
9CTC1NM_025099.5(CTC1): c.3583C> T (p.Arg1195Ter)single nucleotide variantPathogenicrs199473682GRCh37Chr 17, 8131569: 8131569
10CTC1NM_025099.5(CTC1): c.680C> T (p.Ala227Val)single nucleotide variantPathogenicrs199473673GRCh37Chr 17, 8140805: 8140805
11CTC1CTC1, 1-BP DEL, 1058CdeletionPathogenic
12CTC1CTC1, 3-BP DEL, 2954GTTdeletionPathogenic
13CTC1NM_025099.5(CTC1): c.859C> T (p.Arg287Ter)single nucleotide variantPathogenicrs397514660GRCh37Chr 17, 8139594: 8139594

Expression for genes affiliated with Coats Disease

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Search GEO for disease gene expression data for Coats Disease.

Pathways for genes affiliated with Coats Disease

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades58
9.4IKBKG, VEGFA
29.0IKBKG, FZD4, VEGFA

Compounds for genes affiliated with Coats Disease

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

idCompoundScoreTop Affiliating Genes
1octreotide43 59 28 1212.3ENO2, VEGFA
2leucine438.4NDP, ENO2, RBP3, IKBKG

GO Terms for genes affiliated with Coats Disease

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

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099868.8NDP, FZD4, VEGFA
2extracellular spaceGO:00056158.5NDP, ENO2, RBP3, VEGFA

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:00354269.8FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:00612999.7NDP, FZD4
3canonical Wnt signaling pathwayGO:00600709.7NDP, FZD4
4positive regulation of MAP kinase activityGO:00434069.4PDCD10, VEGFA
5positive regulation of endothelial cell proliferationGO:00019389.3AGGF1, VEGFA
6angiogenesisGO:00015258.9AGGF1, VEGFA, TSPAN12, PDCD10
7vasculogenesisGO:00015708.9GLMN, VEGFA, FZD4, AGGF1

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

idNameGO IDScoreTop Affiliating Genes
1Wnt-activated receptor activityGO:00428139.5TSPAN12, FZD4
2protein heterodimerization activityGO:00469829.0IKBKG, FZD4, VEGFA
3protein homodimerization activityGO:00428038.4PDCD10, VEGFA, FZD4, IKBKG, NDP
4protein bindingGO:00055157.2AGGF1, VEGFA, CTC1, NDP, GLMN, PDCD10

Products for genes affiliated with Coats Disease

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  • Antibodies
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Sources for Coats Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet