MCID: RTN019
MIFTS: 21

Retinal Telangiectasia malady

Summaries for Retinal Telangiectasia

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33MalaCards
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MalaCards: Retinal Telangiectasia is related to idiopathic juxtafoveal retinal telangiectasia and coats disease. An important gene associated with Retinal Telangiectasia is CTC1 (CTS telomere maintenance complex component 1). Related mouse phenotype immune system.

Aliases & Classifications for Retinal Telangiectasia

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 57SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

retinal telangiectasia 8 10 61


External Ids:

Disease Ontology8 DOID:7736
SNOMED-CT57 84884003
ICD9CM27 362.15

Related Diseases for Retinal Telangiectasia

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic juxtafoveal retinal telangiectasia10.5
2coats disease10.3
3retinal telangiectasia hypogammaglobulinemia10.2
4retinal vasculopathy with cerebral leukodystrophy10.2
5neurofibromatosis10.0
6alport syndrome10.0
7rift valley fever10.0
8hereditary hemorrhagic telangiectasia10.0
9dyskeratosis congenita10.0
10williams-beuren syndrome10.0
11leber congenital amaurosis10.0
12cadasil10.0
13polyarteritis nodosa10.0
14patau syndrome10.0
15angioma serpiginosum10.0
16carotid artery occlusion10.0
17von hippel-lindau disease10.0
18n syndrome10.0
19bloch-sulzberger syndrome10.0
20kabuki syndrome10.0
21oculorenocerebellar syndrome10.0
22gm1 gangliosidosis type 310.0
23norrie disease10.0
24wyburn mason's syndrome10.0
25cerebelloparenchymal disorder 310.0
26progressive bifocal chorioretinal atrophy10.0
27hec syndrome10.0
28frenkel russe syndrome10.0
29glutaric acidemia type i10.0
30microscopic polyangiitis10.0
31phace syndrome10.0
32retinal dysplasia x-linked10.0
33macroglobulinemia, waldenstrom, somatic10.0
34sturge-weber syndrome, somatic, mosaic10.0
35cowden syndrome 110.0
36woolly hair, autosomal dominant10.0
37cerebroretinal microangiopathy with calcifications and cysts10.0
38fascioscapulohumeral muscular dystrophy 2, digenic10.0
39night blindness - skeletal anomalies - dysmorphism10.0
40short stature - craniofacial anomalies - genital hypoplasia10.0
41retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications10.0
42von hippel anomaly10.0

Graphical network of the top 20 diseases related to Retinal Telangiectasia:



Diseases related to retinal telangiectasia

Clinical Features for Retinal Telangiectasia

Drugs & Therapeutics for Retinal Telangiectasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Retinal Telangiectasia

Drug clinical trials:

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Search NIH Clinical Center for Retinal Telangiectasia

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Genetic Tests for Retinal Telangiectasia

Anatomical Context for Retinal Telangiectasia

Animal Models for Retinal Telangiectasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Retinal Telangiectasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.6POLK, GRAP2, CTC1

Publications for Retinal Telangiectasia

Sources:
51PubMed
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Articles related to Retinal Telangiectasia:

(show all 31)
idTitleAuthorsYear
1
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography. (24150706)
2013
2
Idiopathic macular telangiectasia type 2 (idiopathic juxtafoveolar retinal telangiectasis type 2A, Mac Tel 2). (24160729)
2013
3
Pilot application of iTRAQ to the retinal disease Macular Telangiectasia. (22098468)
2012
4
Intravitreal ranibizumab and laser photocoagulation in the management of idiopathic juxtafoveolar retinal telangiectasia type 1: a case report. (23275792)
2012
5
Pediatric retinal detachment in cutis aplasia and cutis marmorata telangiectasia. (22427150)
2012
6
A role for vascular deficiency in retinal pathology in a mouse model of ataxia-telangiectasia. (21763675)
2011
7
The continuum of primary retinal telangiectasia. (21146470)
2011
8
Peripapillary nerve fiber layer thickening, telangiectasia, and retinal hemorrhages in wernicke encephalopathy. (20182209)
2010
9
Intravitreal ranibizumab as primary treatment for neovascular membrane associated with idiopathic juxtafoveal retinal telangiectasia. (19727795)
2009
10
Ultra wide field angiography in the diagnosis of aneurysmal retinal telangiectasia: a case report. (19241286)
2009
11
Correlation of functional impairment and morphological alterations in patients with group 2A idiopathic juxtafoveal retinal telangiectasia. (18332311)
2008
12
Idiopathic juxtafoveal retinal telangiectasia. (19811762)
2008
13
Group 2A idiopathic juxtafoveolar retinal telangiectasia in monozygotic twins. (15767084)
2005
14
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome). (16352479)
2005
15
Long-term juxtafoveal retinal telangiectasia. (16141860)
2005
16
Retinal telangiectasia in association with macular hole formation. (14716321)
2004
17
Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia. (12972772)
2003
18
A case of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber's disease) with dystrophic calcinosis cutis and retinal lesions. (12227486)
2002
19
Retinal venous telangiectasia and anastomoses with cerebellar venous and cavernous malformation. (11421019)
2001
20
Idiopathic juxtafoveolar retinal telangiectasia: a review and case report. (10874206)
2000
21
Inherited retinal telangiectasia with glial proliferation. (9713794)
1998
22
Acquired peripheral retinal telangiectasia after retinal surgery. (8016454)
1994
23
Picture of the month. Retinal telangiectasia (Coats' disease). (1543186)
1992
24
Retinal telangiectasia. (6493711)
1984
25
Retinal telangiectasia, retinoschisis and retinal detachment. (6508099)
1984
26
Alport's syndrome and retinal telangiectasia. (6571430)
1983
27
Retinal telangiectasia secondary to bilateral carotid artery occlusion. (6349594)
1983
28
The spectrum of retinal telangiectasia. (6623580)
1983
29
Metamorphosis of retinal exudation following argon laser photocoagulation of retinal telangiectasia. (6687093)
1983
30
Rhegmatogenous retinal detachment with retinal telangiectasia. (572641)
1979
31
Retinal telangiectasia associated with hypogammaglobulinemia. (6018656)
1967

Genetic Variations for Retinal Telangiectasia

Expression for genes affiliated with Retinal Telangiectasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinal Telangiectasia

Search GEO for disease gene expression data for Retinal Telangiectasia.

Pathways for genes affiliated with Retinal Telangiectasia

Compounds for genes affiliated with Retinal Telangiectasia

GO Terms for genes affiliated with Retinal Telangiectasia

Sources:
16Gene Ontology
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Biological processes related to Retinal Telangiectasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell signalingGO:0072679.0GRAP2, CRB1

Products for genes affiliated with Retinal Telangiectasia

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Sources for Retinal Telangiectasia

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