MCID: RTN019
MIFTS: 27

Retinal Telangiectasia malady

Categories: Cardiovascular diseases, Eye diseases

Aliases & Classifications for Retinal Telangiectasia

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Aliases & Descriptions for Retinal Telangiectasia:

Name: Retinal Telangiectasia 11 13 68

Classifications:



External Ids:

Disease Ontology11 DOID:7736
SNOMED-CT62 84884003
ICD9CM32 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 (CST Telomere Replication 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 & Phenotypes for Retinal Telangiectasia

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MGI Mouse Phenotypes related to Retinal Telangiectasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2CRB1, FZD4, NDP, RS1
2MP:00053917.9CRB1, FZD4, NDP, RS1, TSPAN12

Drugs & Therapeutics for Retinal Telangiectasia

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 32020216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2Angiogenesis InhibitorsPhase 3, Phase 1, Phase 24257
3Angiogenesis Modulating AgentsPhase 3, Phase 1, Phase 24185
4
RanibizumabapprovedPhase 1, Phase 2486347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
5AnecortavePhase 231
6VaccinesPhase 16611
7Endothelial Growth FactorsPhase 1382
8MitogensPhase 11617
9Protective Agents7443
10Antioxidants3050
11Carotenoids155

Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1Effect of Avastin in Juxtafoveal TelangiectasiasUnknown statusNCT00406380Phase 3
2Intravitreal Bevacizumab for Idiopathic Macular TelangiectasiaCompletedNCT00451763Phase 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
6Treatment of Idiopathic Perifoveal Telangiectasia (IPT) With Open-Label Anecortave Acetate (15mg.).CompletedNCT00211328Phase 2
7Ranibizumab to Treat Type 2 Idiopathic Macular Telangiectasia (RAMA-Trial)CompletedNCT00504400Phase 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
10Extension Study of NT-501 Ciliary Neurotrophic Factor (CNTF) Implant for Macular Telangiectasia (MacTel)Enrolling by invitationNCT03071965Phase 2
11Ranibizumab Injections to Treat Macular Telangiectasia Without New Blood Vessel GrowthCompletedNCT00685854Phase 1
12Ranibizumab in Idiopathic Parafoveal Telangiectasia (RIPT) TrialCompletedNCT00378196Phase 1
13Injected Ranibizumab to Treat Macular Telangiectasia With New Blood Vessel FormationCompletedNCT00457067Phase 1
14Injected Ranibizumab to Treat Macular Telangiectasia Without New Blood Vessel FormationCompletedNCT00457145Phase 1
15Ranibizumab Injections to Treat Macular Telangiectasia With New Blood Vessel GrowthCompletedNCT00685503Phase 1
16Ciliary Neurotrophic Factor (CNTF) Safety Trial in Patients With Macular Telangiectasia (Mactel)CompletedNCT01327911Phase 1
17Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT02208713Phase 1
18Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
19The 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:

36
Eye

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
Ultra wide field angiography in the diagnosis of aneurysmal retinal telangiectasia: a case report. (19241286)
2009
9
Intravitreal ranibizumab as primary treatment for neovascular membrane associated with idiopathic juxtafoveal retinal telangiectasia. (19727795)
2009
10
Idiopathic juxtafoveal retinal telangiectasia. (19811762)
2008
11
Correlation of functional impairment and morphological alterations in patients with group 2A idiopathic juxtafoveal retinal telangiectasia. (18332311)
2008
12
Long-term juxtafoveal retinal telangiectasia. (16141860)
2005
13
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome). (16352479)
2005
14
Group 2A idiopathic juxtafoveolar retinal telangiectasia in monozygotic twins. (15767084)
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, retinoschisis and retinal detachment. (6508099)
1984
22
Retinal telangiectasia. (6493711)
1984
23
Retinal telangiectasia secondary to bilateral carotid artery occlusion. (6349594)
1983
24
Metamorphosis of retinal exudation following argon laser photocoagulation of retinal telangiectasia. (6687093)
1983
25
Alport's syndrome and retinal telangiectasia. (6571430)
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
1canonical Wnt signaling pathwayGO:006007010.1FZD4, NDP
2extracellular matrix-cell signalingGO:003542610.1FZD4, NDP
3positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.0FZD4, NDP
4retina vasculature morphogenesis in camera-type eyeGO:006129910.0FZD4, NDP
5retina layer formationGO:001084210.0RS1, TSPAN12
6sensory perception of soundGO:00076059.4FZD4, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet