MCID: RTN019
MIFTS: 23

Retinal Telangiectasia malady

Category: Eye diseases

Aliases & Classifications for Retinal Telangiectasia

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Aliases & Descriptions for Retinal Telangiectasia:

Name: Retinal Telangiectasia 11 13 66

Classifications:



External Ids:

Disease Ontology11 DOID:7736
SNOMED-CT60 84884003
ICD9CM30 362.15

Summaries for Retinal Telangiectasia

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MalaCards based summary: Retinal Telangiectasia is related to idiopathic juxtafoveal retinal telangiectasia and retinal telangiectasia hypogammaglobulinemia. An important gene associated with Retinal Telangiectasia is CTC1 (CTS Telomere Maintenance Complex Component 1). Affiliated tissues include eye, and related mouse phenotypes are pigmentation and vision/eye.

Related Diseases for Retinal Telangiectasia

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



Diseases related to retinal telangiectasia

Symptoms for Retinal Telangiectasia

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Drugs & Therapeutics for Retinal Telangiectasia

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Drugs for Retinal Telangiectasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BevacizumabPhase 31938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
RanibizumabPhase 1, Phase 2469347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1Intravitreal Bevacizumab for Idiopathic Macular TelangiectasiaCompletedNCT00451763Phase 3
2Effect of Avastin in Juxtafoveal TelangiectasiasRecruitingNCT00406380Phase 3
3Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related MaculopathyCompletedNCT00470977Phase 1, Phase 2
4High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal TelangiectasiaCompletedNCT01205035Phase 2
5Treatment of Congenital Telangiectasia (Coat's Disease) With Open-label Anecortave Acetate (15mg.)CompletedNCT00211315Phase 2
6Ranibizumab to Treat Type 2 Idiopathic Macular Telangiectasia (RAMA-Trial)CompletedNCT00504400Phase 2
7Treatment of Idiopathic Perifoveal Telangiectasia (IPT) With Open-Label Anecortave Acetate (15mg.).CompletedNCT00211328Phase 2
8Endpoint Management Software for Photothermal Stimulation of Macular DiseasesRecruitingNCT01975103Phase 2
9A Phase 2 Multicenter Randomized Clinical Trial of CNTF for MacTelActive, not recruitingNCT01949324Phase 2
10Injected Ranibizumab to Treat Macular Telangiectasia With New Blood Vessel FormationCompletedNCT00457067Phase 1
11Injected Ranibizumab to Treat Macular Telangiectasia Without New Blood Vessel FormationCompletedNCT00457145Phase 1
12Ranibizumab in Idiopathic Parafoveal Telangiectasia (RIPT) TrialCompletedNCT00378196Phase 1
13Ranibizumab Injections to Treat Macular Telangiectasia Without New Blood Vessel GrowthCompletedNCT00685854Phase 1
14Ranibizumab Injections to Treat Macular Telangiectasia With New Blood Vessel GrowthCompletedNCT00685503Phase 1
15Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT02208713Phase 1
16Ciliary Neurotrophic Factor (CNTF) Safety Trial in Patients With Macular Telangiectasia (Mactel)Active, not recruitingNCT01327911Phase 1
17Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
18The Role of Macular Pigment Carotenoids in the Pathogenesis and Treatment of Macular Telangiectasia Type 2 (MacTel)Active, not recruitingNCT01354093

Search NIH Clinical Center for Retinal Telangiectasia

Genetic Tests for Retinal Telangiectasia

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Anatomical Context for Retinal Telangiectasia

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MalaCards organs/tissues related to Retinal Telangiectasia:

34
Eye

Animal Models for Retinal Telangiectasia or affiliated genes

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MGI Mouse Phenotypes related to Retinal Telangiectasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5CRB1, FZD4, NDP, RS1
2MP:00053917.9CRB1, FZD4, NDP, RS1, TSPAN12

Publications for Retinal Telangiectasia

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Articles related to Retinal Telangiectasia:

(show all 28)
idTitleAuthorsYear
1
Peripheral retinal telangiectasia and ischemia in Takayasu's arteritis. (27110659)
2016
2
A New CRB1 Rat Mutation Links MA1ller Glial Cells to Retinal Telangiectasia. (25878282)
2015
3
Fluorescein angiography versus spectral domain optical coherence tomography in idiopathic juxtafoveal retinal telangiectasia. (25196460)
2014
4
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography - can we choose? (25308781)
2014
5
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography. (24150706)
2013
6
Intravitreal ranibizumab and laser photocoagulation in the management of idiopathic juxtafoveolar retinal telangiectasia type 1: a case report. (23275792)
2012
7
The continuum of primary retinal telangiectasia. (21146470)
2011
8
Intravitreal ranibizumab as primary treatment for neovascular membrane associated with idiopathic juxtafoveal retinal telangiectasia. (19727795)
2009
9
Ultra wide field angiography in the diagnosis of aneurysmal retinal telangiectasia: a case report. (19241286)
2009
10
Correlation of functional impairment and morphological alterations in patients with group 2A idiopathic juxtafoveal retinal telangiectasia. (18332311)
2008
11
Idiopathic juxtafoveal retinal telangiectasia. (19811762)
2008
12
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome). (16352479)
2005
13
Group 2A idiopathic juxtafoveolar retinal telangiectasia in monozygotic twins. (15767084)
2005
14
Long-term juxtafoveal retinal telangiectasia. (16141860)
2005
15
Retinal telangiectasia in association with macular hole formation. (14716321)
2004
16
Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia. (12972772)
2003
17
Idiopathic juxtafoveolar retinal telangiectasia: a review and case report. (10874206)
2000
18
Inherited retinal telangiectasia with glial proliferation. (9713794)
1998
19
Acquired peripheral retinal telangiectasia after retinal surgery. (8016454)
1994
20
Picture of the month. Retinal telangiectasia (Coats' disease). (1543186)
1992
21
Retinal telangiectasia. (6493711)
1984
22
Retinal telangiectasia, retinoschisis and retinal detachment. (6508099)
1984
23
Alport's syndrome and retinal telangiectasia. (6571430)
1983
24
Metamorphosis of retinal exudation following argon laser photocoagulation of retinal telangiectasia. (6687093)
1983
25
Retinal telangiectasia secondary to bilateral carotid artery occlusion. (6349594)
1983
26
The spectrum of retinal telangiectasia. (6623580)
1983
27
Rhegmatogenous retinal detachment with retinal telangiectasia. (572641)
1979
28
Retinal telangiectasia associated with hypogammaglobulinemia. (6018656)
1967

Variations for Retinal Telangiectasia

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Expression for genes affiliated with Retinal Telangiectasia

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Search GEO for disease gene expression data for Retinal Telangiectasia.

Pathways for genes affiliated with Retinal Telangiectasia

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GO Terms for genes affiliated with Retinal Telangiectasia

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Biological processes related to Retinal Telangiectasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:003542610.0FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:00612999.8FZD4, NDP
3positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.5FZD4, NDP
4retina layer formationGO:00108429.4RS1, TSPAN12
5canonical Wnt signaling pathwayGO:00600709.3FZD4, NDP
6sensory perception of soundGO:00076059.1FZD4, NDP

Molecular functions related to Retinal Telangiectasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Wnt-activated receptor activityGO:00428139.3FZD4, TSPAN12

Sources for Retinal Telangiectasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet