CRMCC
MCID: CTS003
MIFTS: 50

Coats Disease (CRMCC) malady

Neuronal diseases, Eye diseases, Fetal diseases categories

Summaries for Coats Disease

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 disease and leukoencephalopathy, cerebral calcifications, and cysts, and has symptoms including visual loss/blindness/amblyopia, cataract/lens opacification and aniridia/iris hypoplasia. An important gene associated with Coats Disease is CTC1 (CTS telomere maintenance complex component 1). Affiliated tissues include eye, retina and brain.

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... more...

Description from OMIM:46 300216,612199

Aliases & Classifications for Coats Disease

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 20GeneTests, 21Genetics Home Reference, 56SNOMED-CT, 34MeSH, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 10 44 48 46
cerebroretinal microangiopathy with calcifications and cysts 21 46 48
exudative retinopathy 8 60
coats plus syndrome 21 48
coats' disease 8 20
crmcc 21 48
congenital retinal telangiectasia 48
leber miliary aneurysm 48
retinal telangiectasis 42
coats' syndrome 8


External Ids:

Disease Ontology8 DOID:7765
MeSH34 D058456
ICD9CM27 362.12
MESH via Orphanet35 D058456
ICD10 via Orphanet26 H35.0
SNOMED-CT via Orphanet57 25506007, 360455002
UMLS via Orphanet61 C0154832

Related Diseases for Coats Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Coats Disease:



Diseases related to coats disease

Clinical Features for Coats Disease

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300216,612199

Clinical synopsis from OMIM:

612199

Symptoms:

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

Drugs & Therapeutics for Coats Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Coats Disease:

32
Eye, Retina, Brain, Bone, Liver, Skin, Small intestine, Endothelial, Heart, Thyroid, Tongue

Animal Models for Coats Disease or affiliated genes

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Publications for Coats Disease

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50PubMed
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Articles related to Coats Disease:

(show top 50)    (show all 236)
idTitleAuthorsYear
1
The effect of intravitreal bevacizumab injection as the initial treatment for Coats' disease. (23873253)
2014
2
Peripheral retinal nonperfusion in fellow eyes in coats disease. (23974953)
2013
3
Treatment of Coats' disease with intravitreal bevacizumab. (23269680)
2013
4
August 2012 cover photo is not coats' disease. (23823530)
2013
5
Successful use of intravitreal bevacizumab and pascal laser photocoagulation in the management of adult Coats' disease. (24014992)
2013
6
Intravitreal dexamethasone implant (ozurdex) in coats' disease. (24163679)
2013
7
Bevacizumab for Coats' disease with exudative retinal detachment and risk of vitreoretinal traction. (21653215)
2012
8
Coats disease in a 14-year-old boy treated with intravitreal ranibizumab and retinal laser photocoagulation. (22496029)
2012
9
Intravitreal triamcinolone in Coats' disease. (22385486)
2012
10
Over 10 years follow-up of Coats' disease in adulthood. (22205832)
2011
11
Picture of the month: anterior chamber cholesterolosis in Coats disease. (22147780)
2011
12
Resolution of total retinal detachment in Coats' disease with intravitreal injection of bevacizumab. (21080196)
2011
13
Bilateral fluorescein angiographic findings in unilateral Coats' disease. (21323189)
2011
14
Role of intravitreal bevacizumab in adult onset Coats' disease. (21437759)
2011
15
A case of Coats' disease with visual recovery from no light perception vision after vitrectomy. (21331702)
2011
16
RetCam II Fluorescein Angiography to Guide Treatment and Diagnosis of Coats Disease. (20337287)
2010
17
Prophylactic use of the silver-acetate-coated graft in arterial occlusive disease: a retrospective, comparative study. (19660894)
2009
18
Vaccination of chickens using raw rice coated with novel trehalose nano-organogels containing Newcastle disease (strain I-2) vaccine. (19015948)
2009
19
Retinoblastoma presenting as Coats' disease. (18049483)
2008
20
Coats' disease. (18427267)
2008
21
Combined intravitreal bevacizumab and triamcinolone injection in a child with Coats disease. (18589387)
2008
22
Plasma polymer coated surfaces for serum-free culture of limbal epithelium for ocular surface disease. (17323166)
2007
23
Clinical-histopathological correlation in a case of Coats' disease. (16942617)
2006
24
Removal of submacular exudates in a patient with coats disease: a case report. (16963865)
2006
25
Retinoblastoma in an eye with features of Coats' disease. (17022167)
2006
26
Treatment and outcome of exudative retinal detachment in Coats disease: a case report. (15590551)
2004
27
The coat protein of Rabbit hemorrhagic disease virus contains a molecular switch at the N-terminal region facing the inner surface of the capsid. (15063122)
2004
28
Coats disease and VATER association in a 5-year-old boy. (15302670)
2004
29
High-density vitreous substitute in the management of advanced Coats' disease. (11952273)
2002
30
Prosthetic valve endocarditis occurring on a silzone coated heart valve used as treatment for rheumatic mitral valve disease. (11788296)
2002
31
Classification and management of Coats disease: the 2000 Proctor Lecture. (11336931)
2001
32
Classification of the spectrum of Coats' disease as subtypes of idiopathic retinal telangiectasis with exudation. (11782226)
2001
33
Coats' disease. (11698747)
2001
34
Coats' disease and Duchenne muscular dystrophy. (11767047)
2001
35
Difficulties in excluding the diagnosis of retinoblastoma in cases of advanced Coats' disease: a clinicopathologic report. (8887390)
1996
36
Coats' disease and central nervous system venous malformation. (9010873)
1996
37
Coats' disease as a cause of anterior chamber cholesterolosis. (7639669)
1995
38
Proliferative vitreoretinopathy in Coats' disease. Clinicohistopathological case report. (7715928)
1995
39
Unusual presentation of advanced Coats' disease. (7629667)
1995
40
Adult Coats' disease in branch retinal vein occlusion. (7818879)
1994
41
Coats' disease. (2723326)
1989
42
Cytologic and biochemical examination of the subretinal fluid in diagnosis of Coats' disease. (2763826)
1989
43
Apparent Coats' disease and pericentric inversion of chromosome 3. (3605285)
1987
44
Coats' disease in a renal transplant recipient. (3039415)
1987
45
Spontaneous regression of retinal lesions in Coats' disease. (7127201)
1982
46
Coats' disease. (7453275)
1980
47
Ichthyosis hystrix (epidermal nevus syndrome) and Coats' disease. (7356784)
1980
48
Coats' disease and turner's syndrome. (4424105)
1974
49
Coats' disease and muscular dystrophy. (5659903)
1968
50
Coats' Disease of the Retina: Report of Two Cases. (16692560)
1921

Genetic Variations for Coats Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Coats Disease:

62
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

Expression for genes affiliated with Coats Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Coats Disease

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Pathways for genes affiliated with Coats Disease

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Compounds for genes affiliated with Coats Disease

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GO Terms for genes affiliated with Coats Disease

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Products for genes affiliated with Coats Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Coats Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet