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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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 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
retinal telangiectasis 42
leber miliary aneurysm 48
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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Sources:
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:

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Drug clinical trials:

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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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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
Preparation of enteric-coated capsules of beclomethasone dipropionate for patients with intestinal graft-versus-host disease and a case study. (24145732)
2013
2
Adult coats' disease successfully managed with the dexamethasone intravitreal implant (ozurdexAr) combined with retinal photocoagulation. (22548046)
2012
3
Retinoblastoma in a young adult mimicking Coats' disease. (23166876)
2012
4
Diagnosis and treatment of coats' disease: a review of the literature. (22440929)
2012
5
MoxyAr drug-coated balloon: a novel device for the treatment of coronary and peripheral vascular disease. (21646072)
2011
6
Macular fibrosis in Coats disease. (22027803)
2011
7
Use of intravitreal triamcinolone and bevacizumab in Coats' disease with central macular edema. (21318335)
2011
8
Pars plana vitrectomy in advanced coats' disease. (21532996)
2011
9
Effects of green diode laser in the treatment of pediatric Coats disease. (21257148)
2011
10
Macular fibrosis in Coats disease. (20419849)
2010
11
Coats' disease associated with muscular dystrophy treated with ranibizumab. (20075964)
2010
12
Elevated vascular endothelial growth factor level in Coats' disease and possible therapeutic role of bevacizumab. (20379736)
2010
13
Combined photodynamic therapy and intravitreal bevacizumab injection for the treatment of adult Coats' disease: a case report. (21165239)
2010
14
A magnetic resonance imaging diagnostic dilemma: diffuse infiltrating retinoblastoma versus Coats' disease. (21158370)
2010
15
Management of lipid exudates in Coats disease by adjuvant intravitreal triamcinolone: effects and complications. (19955197)
2010
16
A population-based study of Coats disease in the United Kingdom II: investigation, treatment, and outcomes. (20865028)
2010
17
Coats' disease, megalopapilla and Cornelia de Lange syndrome. (19373684)
2009
18
Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease. (19645389)
2009
19
Protective antibody response following oral vaccination of feral pigeons (Columba livia) with Newcastle disease vaccine (strain I-2) coated on oiled rice. (19626453)
2009
20
Vitrectomy for epimacular membrane secondary to adult-onset Coats' disease. (18556951)
2008
21
Management of Coats disease with bevacizumab in 2 patients. (18347637)
2008
22
Management of retinal detachment in Coats disease. Study of 15 cases. (18317340)
2008
23
Observations on the management of Coats' disease: less is more. (17020897)
2007
24
The effects of external subretinal fluid drainage on secondary glaucoma in Coats' disease. (16678751)
2006
25
A case of Coats' disease in a low-birth-weight infant. (16286803)
2005
26
Intraretinal calcification and osseous metaplasia in coats disease. (15534136)
2004
27
Experimental investigations onto the biocompatibility of coated vascular grafts as a function of the primary disease in various patients groups]. (12632286)
2003
28
Selective photocoagulation in Coats' disease: ten-year follow-up. (12510719)
2002
29
A case of Coats' disease with a peeling of premacular fibrosis after photocoagulation. (11906313)
2002
30
Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. (11336930)
2001
31
Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis. (11244345)
2001
32
Clinical-pathologic correlation in Coats' disease. (11521700)
2001
33
Differentiation of coats' disease and retinoblastoma. (11587173)
2001
34
In response to: In vivo efficacy of silver-coated (Sil-zone) infection-resistant polyester fabric against a biofilm-producing bacteria, Staphylococcus epidermidis. J Heart Valve Disease; 1998;7:524-530. (10399673)
1999
35
Visual prognosis of Coats' disease. (10532724)
1998
36
Management of moderate to advanced Coats' disease. (9438579)
1998
37
Proton MR spectroscopy in Coats disease. (9127038)
1997
38
A 5-month-old black boy presented with leukocoria and a &quot;glassy look&quot; in his right eye: Coats' disease. (8487315)
1993
39
Unusual thrombotic-like retinopathy (Coats' disease) associated with congenital plasminogen deficiency type I. (8258756)
1993
40
Long-term follow-up of facioscapulohumeral muscular dystrophy and Coats' disease. (2240145)
1990
41
Bilateral Coats' disease in an infant (a clinical, angiographic, light and electron microscopic study). (3556653)
1987
42
Deletion of 13q12.1 in a child with Coats disease. (3756013)
1986
43
Coats' disease: CT-pathologic correlation in two cases. (6849070)
1983
44
Detection of maple syrup urine disease on resin coated chromatosheets. (547666)
1979
45
Retinoblastoma simulating Coats' disease: a clinicopathologic report. (900721)
1977
46
Coats' disease, diagnosis and treatment. (5056337)
1972
47
Bilateral Coats' disease. Massive gliosis of the retina. (6019559)
1967
48
Coats' disease. Natural history and results of treatment. (5891754)
1965
49
The echogram in exudative retinitis, Coats' disease. (13730626)
1960
50
Coats' Disease. (19988399)
1931

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