MCID: CTS003
MIFTS: 53

Coats Disease malady

Eye, Fetal categories

Summaries for Coats Disease

Sources:
43NIH Rare Diseases, 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 exudative retinopathy, is related to vascular disease and neovascular glaucoma, and has symptoms including retinal vascular anomalies/retinal telangiectasia, strabismus/squint and glaucoma. An important gene associated with Coats Disease is NDP (Norrie disease (pseudoglioma)), and among its related pathways are Signaling by VEGF and Angiogenesis. The compounds azd 2171 and ptk787 have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and t cells, and related mouse phenotypes are pigmentation and integument.

Description from OMIM:47 300216

Aliases & Classifications for Coats Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
coats disease:
Inheritance: Sporadic; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

coats disease 8 43 10 45 49 47
exudative retinopathy 8 61
coats' disease 8 20
congenital retinal telangiectasia 49
retinal telangiectasis 43
leber miliary aneurysm 49
coats' syndrome 8


External Ids:

Disease Ontology8 DOID:7765
OMIM47 300216
MeSH35 D058456
ICD9CM27 362.12
MESH via Orphanet36 D058456
ICD10 via Orphanet26 H35.0
SNOMED-CT via Orphanet58 25506007, 360455002
UMLS via Orphanet62 C0154832

Related Diseases for Coats Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1vascular disease30.6AGGF1, VEGFA, KDR
2neovascular glaucoma30.2VEGFA
3norrie disease29.9NDP
4exudative vitreoretinopathy29.9NDP, FZD4, IKBKG, TSPAN12
5cerebroretinal microangiopathy with calcifications and cysts29.8TSPAN12, ENO2, IKBKG, GLMN, AGGF1, PDCD10
6leber miliary aneurysm10.4
7gollop coates syndrome10.3
8idiopathic edema10.2
9telangiectasis10.2
10retinitis pigmentosa10.2
11turner syndrome10.2
12uveitis10.2
13tuberous sclerosis10.1
14angioid streaks10.1
15retinal melanoma10.1
16ectodermal dysplasia10.1
17idiopathic juxtafoveal retinal telangiectasia10.1
18cavernous malformation10.1
19idiopathic macular telangiectasia type 110.1
20idiopathic macular telangiectasia type 310.1
21retinal cavernous hemangioma10.1
22facioscapulohumeral muscular dystrophy10.1
23n syndrome10.1
24vitreous disease10.1
25dyskeratosis congenita10.1
26polydactyly10.1
27microcephaly10.1
28alström syndrome10.1
29micro syndrome10.1
30short syndrome10.1
31duodenal atresia10.1
32alstr�m syndrome10.1
33short stature10.1
34proteus syndrome10.0AGGF1
35lymphedema10.0IKBKG
36retinoschisis10.0RS1
37human venous malformation10.0GLMN, PDCD10
38eye disease10.0RS1, NDP
39cerebral cavernous malformation10.0KDR, PDCD10
40merkel cell carcinoma10.0KDR, ENO2
41klippel-trenaunay syndrome10.0GLMN, AGGF1, PDCD10
42blindness10.0RS1, VEGFA, NDP
43diabetic retinopathy10.0VEGFA, KDR
44vascular cancer10.0VEGFA, KDR
45corneal neovascularization10.0KDR, VEGFA
46retinal vascular disease10.0NDP, VEGFA, KDR
47gastrointestinal stromal tumor10.0ENO2, KDR
48hemangioblastoma10.0ENO2, KDR, VEGFA
49hemangioma10.0KDR, VEGFA
50non-small cell lung carcinoma10.0ENO2, KDR, VEGFA

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



Diseases related to coats disease

Clinical Features for Coats Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

300216

Symptoms:

49 (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

Drugs & Therapeutics for Coats Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Coats Disease

Drug clinical trials:

Search ClinicalTrials for Coats Disease

Search NIH Clinical Center for Coats Disease

Search CenterWatch for Coats Disease

Genetic Tests for Coats Disease

Sources:
20GeneTests
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Genetic tests related to Coats Disease:

id Genetic test Affiliating Genes
1 Coats Disease20

Anatomical Context for Coats Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Coats Disease:

33
Brain, Retina, T cells, Endothelial

Animal Models for Coats Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Coats Disease

Sources:
51PubMed
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Articles related to Coats Disease:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
Vascular endothelial growth factor in Coats' disease. (23764089)
2013
2
Peripheral retinal nonperfusion in fellow eyes in coats disease. (23974953)
2013
3
Treatment of Coats' disease with intravitreal bevacizumab. (23269680)
2013
4
Coats disease in a 14-year-old boy treated with intravitreal ranibizumab and retinal laser photocoagulation. (22496029)
2012
5
Intravitreal triamcinolone in Coats' disease. (22385486)
2012
6
Coats disease and exudative retinopathy. (21139479)
2011
7
A case of Coats' disease with visual recovery from no light perception vision after vitrectomy. (21331702)
2011
8
The effect of intravitreal bevacizumab in the treatment of Coats disease in children. (19996822)
2010
9
Retinoblastoma presenting as Coats' disease. (18049483)
2008
10
Coats' disease. (18427267)
2008
11
Management of Coats disease with bevacizumab in 2 patients. (18347637)
2008
12
Combined intravitreal bevacizumab and triamcinolone injection in a child with Coats disease. (18589387)
2008
13
Cyclodiode treatment of neovascular glaucoma secondary to Coats' disease. (17446508)
2007
14
Retinoblastoma in an eye with features of Coats' disease. (17022167)
2006
15
Coats' disease and bilateral cataract in a child with Turner syndrome: a case report. (15959738)
2005
16
Laser treatment of Coats' disease. (16382562)
2005
17
Intraretinal calcification and osseous metaplasia in coats disease. (15534136)
2004
18
A case of Coats' disease with a peeling of premacular fibrosis after photocoagulation. (11906313)
2002
19
Bilateral Coats' disease: long-term follow up. (11906314)
2002
20
Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis. (11244345)
2001
21
Clinical-pathologic correlation in Coats' disease. (11521700)
2001
22
Differentiation of coats' disease and retinoblastoma. (11587173)
2001
23
Pars plana vitrectomy and endocryocoagulation for paracentral Coats' disease. (11421022)
2001
24
Proton MR spectroscopy in Coats disease. (9127038)
1997
25
Premacular fibrosis in juvenile Coats' disease with spontaneous peeling after photocoagulation of the congenital vascular anomalies. (9009366)
1996
26
Difficulties in excluding the diagnosis of retinoblastoma in cases of advanced Coats' disease: a clinicopathologic report. (8887390)
1996
27
Coats' disease and central nervous system venous malformation. (9010873)
1996
28
Proliferative vitreoretinopathy in Coats' disease. Clinicohistopathological case report. (7715928)
1995
29
Long-term follow-up of facioscapulohumeral muscular dystrophy and Coats' disease. (2240145)
1990
30
Cytologic and biochemical examination of the subretinal fluid in diagnosis of Coats' disease. (2763826)
1989
31
Treatment of Coats' disease with the binocular indirect argon laser photocoagulator. (2730387)
1989
32
Coats' disease in a renal transplant recipient. (3039415)
1987
33
Spontaneous regression of retinal lesions in Coats' disease. (7127201)
1982
34
Retinitis pigmentosa, unilateral Coats's disease, and thalassemia minor--a case report. (7289686)
1981
35
Orbital cellulitis in an infant secondary to Coats' disease. (7436836)
1980
36
Ichthyosis hystrix (epidermal nevus syndrome) and Coats' disease. (7356784)
1980
37
Increased aqueous lactate dehydrogenase in Coats' disease. (655249)
1978
38
Origin of ghost cell in Coats' disease. (955836)
1976
39
Coats' disease and congenital vascular retinopathy. (325857)
1976
40
Coats disease. (4847500)
1974
41
Coats' disease and turner's syndrome. (4424105)
1974
42
Some pathologic and biochemical aspects of Coats' disease. (4348894)
1973
43
Coats' disease, diagnosis and treatment. (5481542)
1970
44
Coats' disease and hyperlipemic retinitis. (6061527)
1967
45
Observations on Coats' disease. (14001800)
1962
46
The echogram in exudative retinitis, Coats' disease. (13730626)
1960
47
Telangiectasis of the retina and Coats' disease. (13339898)
1956
48
Coats' disease; a clinical and pathologic study. (14397910)
1955
49
A Case of (?) Coats' Disease. (19985980)
1927
50
Coats' Disease of the Retina: Report of Two Cases. (16692560)
1921

Genetic Variations for Coats Disease

Expression for genes affiliated with Coats Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore
See all sources

Pathways related to Coats Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4KDR, VEGFA
29.4KDR, VEGFA
3
Hide members
9.0KDR, IKBKG, VEGFA

Compounds for genes affiliated with Coats Disease

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Coats Disease according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1azd 2171459.7KDR, VEGFA
2ptk787459.7KDR, VEGFA
3su6668459.6KDR, VEGFA
4zd6474459.6KDR, VEGFA
5axitinib45 60 1111.6KDR, VEGFA
6su5416459.5KDR, VEGFA
7marimastat45 60 1111.4KDR, VEGFA
8sunitinib45 50 1111.3KDR, VEGFA
9geldanamycin45 50 60 1112.1VEGFA, IKBKG, KDR
10taxane459.1KDR, VEGFA
11carboplatin45 50 1111.1VEGFA, KDR, ENO2
12leucine459.0NDP, RBP3, IKBKG, ENO2
13docetaxel45 50 60 1111.9ENO2, KDR, VEGFA

GO Terms for genes affiliated with Coats Disease

Sources:
16Gene Ontology
See all sources

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:03542610.2FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:06129910.2FZD4, NDP
3retina layer formationGO:01084210.0RS1, TSPAN12
4visual perceptionGO:0076019.7RS1, RBP3, NDP
5positive regulation of positive chemotaxisGO:0509279.6VEGFA, KDR
6surfactant homeostasisGO:0431299.6VEGFA, KDR
7positive regulation of focal adhesion assemblyGO:0518949.5VEGFA, KDR
8cell migration involved in sprouting angiogenesisGO:0020429.5VEGFA, KDR
9cellular response to vascular endothelial growth factor stimulusGO:0359249.4KDR, VEGFA
10positive regulation of endothelial cell proliferationGO:0019389.3AGGF1, VEGFA, KDR
11vascular endothelial growth factor receptor signaling pathwayGO:0480109.3KDR, VEGFA
12positive regulation of angiogenesisGO:0457669.3KDR, VEGFA, AGGF1
13branching morphogenesis of an epithelial tubeGO:0487549.1VEGFA, KDR
14vasculogenesisGO:0015708.7KDR, GLMN, VEGFA, AGGF1, FZD4
15angiogenesisGO:0015258.7PDCD10, AGGF1, VEGFA, KDR, TSPAN12

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

idNameGO IDScoreTop Affiliating Genes
1Wnt-activated receptor activityGO:0428139.9TSPAN12, FZD4
2protein homodimerization activityGO:0428038.5IKBKG, VEGFA, FZD4, PDCD10, NDP

Products for genes affiliated with Coats Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Coats Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet