CRMCC
MCID: CTS003
MIFTS: 61

Coats Disease (CRMCC) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories
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Summaries for Coats Disease

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Coats disease is an eye disorder characterized by abnormal development of the blood vessels of the retina (retinal telangiectasia). signs and symptoms differ depending on the extent and size of blood vessels involved; some individuals are asymptomatic while others are severly affected. symptoms typically begin at an early age (most commonly between ages 6 to 8) and may include vision loss; crossed eyes (strabismus); a white mass in the pupil behind the lens of the eye (leukokoria); and/or retinal detachment. in most cases, only one eye is affected (unilateral) but in rare cases both eyes are affected (bilateral). the cause is not exactly 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, photocoagulation and/or surgery. last updated: 12/5/2011

MalaCards: Coats Disease, also known as cerebroretinal microangiopathy with calcifications and cysts, is related to retinal detachment and vascular disease, and has symptoms including anterior chamber anomaly, aniridia/iris hypoplasia and retinal detachment. 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:65 Coats? disease, (also known as exudative retinitis or retinal telangiectasis, sometimes spelled Coates\'... more...

Description from OMIM:47 300216,612199

Aliases & Classifications for Coats Disease

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 20GeneTests, 21Genetics Home Reference, 58SNOMED-CT, 27ICD9CM, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
coats disease:
Inheritance: Sporadic; Age of onset: Childhood; Age of death: Normal
cerebroretinal microangiopathy with calcifications and cysts:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

coats disease 8 43 10 45 49 47
cerebroretinal microangiopathy with calcifications and cysts 21 47 49
exudative retinopathy 8 62
coats plus syndrome 21 49
coats' disease 8 20
crmcc 21 49
congenital retinal telangiectasia 49
leber miliary aneurysm 49
retinal telangiectasis 43
coats' syndrome 8


External Ids:

Disease Ontology8 DOID:7765
ICD9CM27 362.12
MeSH35 D058456
MESH via Orphanet36 D058456
ICD10 via Orphanet26 H35.0
SNOMED-CT via Orphanet59 25506007, 360455002
UMLS via Orphanet63 C0154832

Related Diseases for Coats Disease

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17GeneCards, 18GeneDecks
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Diseases related to Coats Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1retinal detachment30.4IKBKG, NDP, VEGFA, FZD4
2vascular disease30.2PDCD10, GLMN
3retinal vascular disease30.2NDP, VEGFA
4retinopathy of prematurity30.0NDP, IKBKG, FZD4, TSPAN12, VEGFA
5norrie disease29.9NDP
6exudative vitreoretinopathy29.8FZD4, IKBKG, NDP, TSPAN12
7retinitis10.6
8leukoencephalopathy, cerebral calcifications, and cysts10.5
9leber miliary aneurysm10.4
10retinoblastoma10.3
11endotheliitis10.3
12gollop coates syndrome10.3
13muscular dystrophy10.3
14macular holes10.2
15glaucoma10.2
16telangiectasis10.2
17neovascular glaucoma10.1
18retinitis pigmentosa10.1
19uveitis10.1
20choroiditis10.1
21tuberous sclerosis10.1
22angioid streaks10.1
23cavernous hemangioma10.1
24chorioretinitis10.1
25hemangioma10.1
26melanoma10.1
27paraplegia10.1
28ectodermal dysplasia10.1
29idiopathic juxtafoveal retinal telangiectasia10.1
30spasticity10.1
31idiopathic macular telangiectasia type 110.1
32idiopathic macular telangiectasia type 310.1
33dyskeratosis congenita10.1
34polydactyly10.1
35microcephaly10.1
36duodenitis10.1
37cerebritis10.1
38duodenal atresia10.1
39short stature10.1
40aplastic anemia10.1
41dyskeratosis congenita, autosomal dominant 110.1
42human venous malformation10.1GLMN, PDCD10
43facioscapulohumeral muscular dystrophy10.0
44cornelia de lange syndrome10.0
45cataract10.0
46turner syndrome10.0
47klippel-trenaunay syndrome10.0AGGF1, PDCD10, GLMN
48blindness10.0NDP, VEGFA
49hemangioblastoma10.0VEGFA, ENO2
50sympathetic ophthalmia9.9

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



Diseases related to coats disease

Symptoms for Coats Disease

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

612199

Clinical features from OMIM:

300216,612199

Symptoms:

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

Drugs & Therapeutics for Coats Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests
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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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33MalaCards
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MalaCards organs/tissues related to Coats Disease:

33
Eye, Retina, Brain, Small intestine, Bone, Liver, Skin, Endothelial

Animal Models for Coats Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Coats Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0FZD4, IKBKG, NDP
2MP:00053828.7ENO2, GLMN, PDCD10, VEGFA
3MP:00107718.4VEGFA, FZD4, IKBKG, PDCD10, CTC1
4MP:00053918.1VEGFA, TSPAN12, FZD4, PDCD10, RBP3, NDP
5MP:00053788.0VEGFA, FZD4, IKBKG, PDCD10, GLMN, CTC1
6MP:00053867.9VEGFA, FZD4, IKBKG, PDCD10, ENO2, NDP
7MP:00053857.9NDP, VEGFA, TSPAN12, FZD4, IKBKG, PDCD10
8MP:00053847.7VEGFA, FZD4, IKBKG, PDCD10, GLMN, ENO2
9MP:00036317.5VEGFA, FZD4, PDCD10, GLMN, RBP3, ENO2

Publications for Coats Disease

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Sources:
52PubMed
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Articles related to Coats Disease:

(show top 50)    (show all 211)
idTitleAuthorsYear
1
Vascular endothelial growth factor in Coats' disease. (23764089)
2013
2
Peripheral retinal nonperfusion in fellow eyes in coats disease. (23974953)
2013
3
Intravitreal ranibizumab in the management of stage 2B Coats disease in a young adult Malay man. (23774706)
2013
4
Treatment of Coats' disease with intravitreal bevacizumab. (23269680)
2013
5
Successful outcome of adult-onset Coats' disease following retinal laser photocoagulation. (24379559)
2013
6
August 2012 cover photo is not coats' disease. (23823530)
2013
7
Bevacizumab for Coats' disease with exudative retinal detachment and risk of vitreoretinal traction. (21653215)
2012
8
Adult coats' disease successfully managed with the dexamethasone intravitreal implant (ozurdexAr) combined with retinal photocoagulation. (22548046)
2012
9
Refractory coats' disease of adult onset. (22548045)
2012
10
Over 10 years follow-up of Coats' disease in adulthood. (22205832)
2011
11
Coats' Disease, Turner Syndrome, and von Willebrand Disease in a Patient with Wildtype Norrie Disease Pseudoglioma. (20411871)
2010
12
A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis. (20865031)
2010
13
Combined intravitreal bevacizumab and argon laser treatment for Coats' disease. (19500078)
2010
14
Pediatric retinal detachment due to Coats' disease diagnosed with bedside emergency department ultrasound. (18226872)
2009
15
Coats' disease, megalopapilla and Cornelia de Lange syndrome. (19373684)
2009
16
Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease. (19645389)
2009
17
Resolution of severe macular edema in adult coats' disease with intravitreal triamcinolone and bevacizumab injection. (18784449)
2008
18
Retinoblastoma presenting as Coats' disease. (18049483)
2008
19
Vitrectomy for epimacular membrane secondary to adult-onset Coats' disease. (18556951)
2008
20
Cyclodiode treatment of neovascular glaucoma secondary to Coats' disease. (17446508)
2007
21
Lamellar macular hole as the presenting feature in a child with Coats' disease. (16382565)
2005
22
Selective photocoagulation in Coats' disease: ten-year follow-up. (12510719)
2002
23
Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. (11336930)
2001
24
Classification and management of Coats disease: the 2000 Proctor Lecture. (11336931)
2001
25
Extensive brain calcification in two children with bilateral Coats' disease. (10222456)
1999
26
Retinitis pigmentosa, Coats disease and uveitis. (10544975)
1999
27
Coats' disease (exudative retinopathy): case report. (9640286)
1998
28
Premacular fibrosis in juvenile Coats' disease with spontaneous peeling after photocoagulation of the congenital vascular anomalies. (9009366)
1996
29
Difficulties in excluding the diagnosis of retinoblastoma in cases of advanced Coats' disease: a clinicopathologic report. (8887390)
1996
30
Coats' disease. (9392769)
1996
31
Coats' disease as a cause of anterior chamber cholesterolosis. (7639669)
1995
32
Proliferative vitreoretinopathy in Coats' disease. Clinicohistopathological case report. (7715928)
1995
33
Unusual presentation of advanced Coats' disease. (7629667)
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Coats Disease:

64
id Symbol AA change Variation ID SNP ID
1CTC1p.Ala227ValVAR_067369
2CTC1p.Val259MetVAR_067370
3CTC1p.Gly503ArgVAR_067371
4CTC1p.Val665GlyVAR_067372
5CTC1p.Arg840TrpVAR_067373
6CTC1p.Val871MetVAR_067374
7CTC1p.Arg975GlyVAR_067375
8CTC1p.Arg987TrpVAR_067377
9CTC1p.Leu1142HisVAR_067378

Clinvar genetic disease variations for Coats Disease:

1 (show all 13)
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Coats Disease

Search GEO for disease gene expression data for Coats Disease.

Pathways for genes affiliated with Coats Disease

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50PathCards, 60Thomson Reuters, 30KEGG
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Pathways related to Coats Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades60
9.4IKBKG, VEGFA
29.0IKBKG, FZD4, VEGFA

Compounds for genes affiliated with Coats Disease

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank
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Compounds related to Coats Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1octreotide45 61 29 1112.3ENO2, VEGFA
2leucine458.4NDP, ENO2, RBP3, IKBKG

GO Terms for genes affiliated with Coats Disease

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16Gene Ontology
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Cellular components related to Coats Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099868.8NDP, FZD4, VEGFA
2extracellular spaceGO:0056158.5NDP, ENO2, RBP3, VEGFA

Biological processes related to Coats Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:0354269.8FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:0612999.7NDP, FZD4
3canonical Wnt signaling pathwayGO:0600709.7NDP, FZD4
4positive regulation of MAP kinase activityGO:0434069.4PDCD10, VEGFA
5positive regulation of endothelial cell proliferationGO:0019389.3AGGF1, VEGFA
6angiogenesisGO:0015258.9AGGF1, PDCD10, TSPAN12, VEGFA
7vasculogenesisGO:0015708.9AGGF1, GLMN, FZD4, VEGFA

Molecular functions related to Coats Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Wnt-activated receptor activityGO:0428139.5TSPAN12, FZD4
2protein heterodimerization activityGO:0469829.0IKBKG, FZD4, VEGFA
3protein homodimerization activityGO:0428038.4PDCD10, VEGFA, FZD4, IKBKG, NDP
4protein bindingGO:0055157.2AGGF1, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet