CRMCC
MCID: CTS003
MIFTS: 62

Coats Disease (CRMCC) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories
Download this MalaCard

Summaries for Coats Disease

About this section


Fully expand this MalaCard
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 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 retinal vascular anomalies/retinal telangiectasia, strabismus/squint 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:65 Coats? disease, (also known as exudative retinitis or retinal telangiectasis, sometimes spelled Coates\'... more...

Descriptions from OMIM:46 300216,612199

Aliases & Classifications for Coats Disease

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 20GeneTests, 21Genetics Home Reference, 34MeSH, 27ICD9CM, 57SNOMED-CT, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Coats Disease, Aliases & Descriptions:

Name: Coats Disease 8 42 10 44 48 46
Cerebroretinal Microangiopathy with Calcifications and Cysts 21 46 48 62
Coats Plus Syndrome 21 48 62
Retinal Telangiectasis 42 62
Exudative Retinopathy 8 62
 
Coats' Disease 8 20
Crmcc 21 48
Congenital Retinal Telangiectasia 48
Leber Miliary Aneurysm 48
Coats' Syndrome 8


Classifications:



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


External Ids:

Disease Ontology8 DOID:7765
MeSH34 D058456
ICD9CM27 362.12
UMLS via Orphanet63 C0154832
MESH via Orphanet35 D058456
ICD10 via Orphanet26 H35.0

Related Diseases for Coats Disease

About this section

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
1vascular disease30.5GLMN, PDCD10
2retinal vascular disease30.4NDP, VEGFA
3norrie disease30.4NDP
4retinal detachment30.2NDP, IKBKG, FZD4, VEGFA
5exudative vitreoretinopathy29.6TSPAN12, FZD4, IKBKG, NDP
6retinitis10.7
7leukoencephalopathy, cerebral calcifications, and cysts10.5
8leber miliary aneurysm10.5
9dyskeratosis congenita10.4
10retinoblastoma10.3
11endotheliitis10.3
12gollop coates syndrome10.3
13muscular dystrophy10.3
14macular holes10.2
15human venous malformation10.2PDCD10, GLMN
16telangiectasis10.2
17retinitis pigmentosa10.1
18neovascular glaucoma10.1
19uveitis10.1
20klippel-trenaunay syndrome10.1PDCD10, GLMN, AGGF1
21ectodermal dysplasia10.1
22hemangioma10.1
23tuberous sclerosis10.1
24angioid streaks10.1
25choroiditis10.1
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
34polydactyly10.1
35pancytopenia10.1
36microcephaly10.1
37duodenitis10.1
38cerebritis10.1
39duodenal atresia10.1
40short stature10.1
41aplastic anemia10.1
42dyskeratosis congenita, autosomal dominant 110.1
43cataract10.0
44facioscapulohumeral muscular dystrophy10.0
45cornelia de lange syndrome10.0
46senior-loken syndrome10.0
47retinoschisis10.0
48turner syndrome10.0
49hemangioblastoma10.0ENO2, VEGFA
50progressive hemifacial atrophy10.0

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



Diseases related to coats disease

Symptoms for Coats Disease

About this section

Symptoms by clinical synopsis from OMIM:

612199

Clinical features from OMIM:

300216,612199

Symptoms:

48 (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 48)
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
10 thrombocytopenia rare (5%) HP:0001873
11 oral leukoplakia rare (5%) HP:0002745
12 bone marrow hypocellularity rare (5%) HP:0005528
13 autosomal recessive inheritance HP:0000007
14 blindness HP:0000618
15 optic atrophy HP:0000648
16 osteopenia HP:0000938
17 osteoporosis HP:0000939
18 thin skin HP:0000963
19 seizures HP:0001250
20 ataxia HP:0001251
21 spasticity HP:0001257
22 dysarthria HP:0001260
23 mental deterioration HP:0001268
24 dystonia HP:0001332
25 tremor HP:0001337
26 intrauterine growth retardation HP:0001511
27 anemia HP:0001903
28 morphological abnormality of the pyramidal tract HP:0002062
29 abnormality of extrapyramidal motor function HP:0002071
30 nail dysplasia HP:0002164
31 hemiplegia HP:0002301
32 leukoencephalopathy HP:0002352
33 leukodystrophy HP:0002415
34 cerebral calcification HP:0002514
35 intestinal bleeding HP:0002584
36 scoliosis HP:0002650
37 pathologic fracture HP:0002756
38 genu valgum HP:0002857
39 infantile onset HP:0003593
40 progressive disorder HP:0003676
41 phenotypic variability HP:0003812
42 short stature HP:0004322
43 metaphyseal sclerosis HP:0004979
44 retinal telangiectasia HP:0007763
45 exudative retinopathy HP:0007898
46 sparse hair HP:0008070
47 postnatal growth retardation HP:0008897
48 short femoral neck HP:0100864

Drugs & Therapeutics for Coats Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Coats Disease

Search NIH Clinical Center for Coats Disease

Genetic Tests for Coats Disease

About this section

Genetic tests related to Coats Disease:

id Genetic test Affiliating Genes
1 Coats Disease20

Anatomical Context for Coats Disease

About this section

MalaCards organs/tissues related to Coats Disease:

32
Eye, Retina, Brain, Bone, Small intestine, Liver, Skin, Endothelial

Animal Models for Coats Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Coats Disease:

36
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

About this section

Articles related to Coats Disease:

(show top 50)    (show all 224)
idTitleAuthorsYear
1
RANIBIZUMAB IN THE MANAGEMENT OF ADVANCED COATS DISEASE STAGES 3B AND 4: Long-term Outcomes. (25075562)
2014
2
Coats' disease in Tanzania: first case report and literature review. (25352900)
2014
3
Combined treatment for Coats' disease: retinal laser photocoagulation combined with intravitreal bevacizumab injection was effective in two cases. (24666524)
2014
4
Vascular endothelial growth factor in Coats' disease. (23764089)
2013
5
Peripheral retinal nonperfusion in fellow eyes in coats disease. (23974953)
2013
6
Intravitreal ranibizumab in the management of stage 2B Coats disease in a young adult Malay man. (23774706)
2013
7
Treatment of Coats' disease with intravitreal bevacizumab. (23269680)
2013
8
Successful outcome of adult-onset Coats' disease following retinal laser photocoagulation. (24379559)
2013
9
Bevacizumab for Coats' disease with exudative retinal detachment and risk of vitreoretinal traction. (21653215)
2012
10
Adult coats' disease successfully managed with the dexamethasone intravitreal implant (ozurdexAr) combined with retinal photocoagulation. (22548046)
2012
11
Refractory coats' disease of adult onset. (22548045)
2012
12
Over 10 years follow-up of Coats' disease in adulthood. (22205832)
2011
13
Coats' Disease, Turner Syndrome, and von Willebrand Disease in a Patient with Wildtype Norrie Disease Pseudoglioma. (20411871)
2010
14
A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis. (20865031)
2010
15
Combined intravitreal bevacizumab and argon laser treatment for Coats' disease. (19500078)
2010
16
Pediatric retinal detachment due to Coats' disease diagnosed with bedside emergency department ultrasound. (18226872)
2009
17
Coats' disease, megalopapilla and Cornelia de Lange syndrome. (19373684)
2009
18
Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease. (19645389)
2009
19
Resolution of severe macular edema in adult coats' disease with intravitreal triamcinolone and bevacizumab injection. (18784449)
2008
20
Retinoblastoma presenting as Coats' disease. (18049483)
2008
21
Vitrectomy for epimacular membrane secondary to adult-onset Coats' disease. (18556951)
2008
22
Cyclodiode treatment of neovascular glaucoma secondary to Coats' disease. (17446508)
2007
23
Lamellar macular hole as the presenting feature in a child with Coats' disease. (16382565)
2005
24
Selective photocoagulation in Coats' disease: ten-year follow-up. (12510719)
2002
25
Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. (11336930)
2001
26
Extensive brain calcification in two children with bilateral Coats' disease. (10222456)
1999
27
Retinitis pigmentosa, Coats disease and uveitis. (10544975)
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

About this section

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:

6 (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

About this section
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

About this section

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

About this section

Compounds related to Coats Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1octreotide44 61 28 1112.3ENO2, VEGFA
2leucine448.4NDP, ENO2, RBP3, IKBKG

GO Terms for genes affiliated with Coats Disease

About this section

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, VEGFA, TSPAN12, PDCD10
7vasculogenesisGO:0015708.9GLMN, VEGFA, FZD4, AGGF1

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Coats Disease

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet