MCID: RTN019
MIFTS: 27

Retinal Telangiectasia malady

Categories: Cardiovascular diseases, Eye diseases

Aliases & Classifications for Retinal Telangiectasia

Aliases & Descriptions for Retinal Telangiectasia:

Name: Retinal Telangiectasia 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:7736
ICD9CM 35 362.15
SNOMED-CT 64 84884003
UMLS 69 C0154835

Summaries for Retinal Telangiectasia

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). The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are pigmentation and vision/eye

Related Diseases for Retinal Telangiectasia

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



Diseases related to Retinal Telangiectasia

Symptoms & Phenotypes for Retinal Telangiectasia

MGI Mouse Phenotypes related to Retinal Telangiectasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 CRB1 FZD4 NDP RS1
2 vision/eye MP:0005391 9.02 FZD4 NDP RS1 TSPAN12 CRB1

Drugs & Therapeutics for Retinal Telangiectasia

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

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 3 216974-75-3
2 Angiogenesis Inhibitors Phase 3,Phase 1,Phase 2
3 Angiogenesis Modulating Agents Phase 3,Phase 1,Phase 2
4
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
5 Anecortave Phase 2
6 Mitogens Phase 1
7 Vaccines Phase 1
8 Endothelial Growth Factors Phase 1
9 Protective Agents
10 Antioxidants
11 Carotenoids

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 Effect of Avastin in Juxtafoveal Telangiectasias Unknown status NCT00406380 Phase 3
2 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3
3 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2
4 High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal Telangiectasia Completed NCT01205035 Phase 2
5 Treatment of Congenital Telangiectasia (Coat's Disease) With Open-label Anecortave Acetate (15mg.) Completed NCT00211315 Phase 2
6 Treatment of Idiopathic Perifoveal Telangiectasia (IPT) With Open-Label Anecortave Acetate (15mg.). Completed NCT00211328 Phase 2
7 Ranibizumab to Treat Type 2 Idiopathic Macular Telangiectasia (RAMA-Trial) Completed NCT00504400 Phase 2
8 Endpoint Management Software for Photothermal Stimulation of Macular Diseases Recruiting NCT01975103 Phase 2
9 A Phase 2 Multicenter Randomized Clinical Trial of CNTF for MacTel Active, not recruiting NCT01949324 Phase 2
10 Extension Study of NT-501 Ciliary Neurotrophic Factor (CNTF) Implant for Macular Telangiectasia (MacTel) Enrolling by invitation NCT03071965 Phase 2
11 Ranibizumab Injections to Treat Macular Telangiectasia Without New Blood Vessel Growth Completed NCT00685854 Phase 1
12 Ranibizumab in Idiopathic Parafoveal Telangiectasia (RIPT) Trial Completed NCT00378196 Phase 1
13 Injected Ranibizumab to Treat Macular Telangiectasia With New Blood Vessel Formation Completed NCT00457067 Phase 1
14 Injected Ranibizumab to Treat Macular Telangiectasia Without New Blood Vessel Formation Completed NCT00457145 Phase 1
15 Ranibizumab Injections to Treat Macular Telangiectasia With New Blood Vessel Growth Completed NCT00685503 Phase 1
16 Ciliary Neurotrophic Factor (CNTF) Safety Trial in Patients With Macular Telangiectasia (Mactel) Completed NCT01327911 Phase 1
17 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
18 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
19 The Role of Macular Pigment Carotenoids in the Pathogenesis and Treatment of Macular Telangiectasia Type 2 (MacTel) Active, not recruiting NCT01354093

Search NIH Clinical Center for Retinal Telangiectasia

Genetic Tests for Retinal Telangiectasia

Anatomical Context for Retinal Telangiectasia

MalaCards organs/tissues related to Retinal Telangiectasia:

39
Eye

Publications for Retinal Telangiectasia

Articles related to Retinal Telangiectasia:

(show all 28)
id Title Authors Year
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

Expression for Retinal Telangiectasia

Search GEO for disease gene expression data for Retinal Telangiectasia.

Pathways for Retinal Telangiectasia

GO Terms for Retinal Telangiectasia

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

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.37 FZD4 NDP
2 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.32 FZD4 NDP
3 canonical Wnt signaling pathway GO:0060070 9.26 FZD4 NDP
4 retina layer formation GO:0010842 9.16 RS1 TSPAN12
5 retina vasculature morphogenesis in camera-type eye GO:0061299 8.96 FZD4 NDP
6 extracellular matrix-cell signaling GO:0035426 8.62 FZD4 NDP

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

id Name GO ID Score Top Affiliating Genes
1 Wnt-activated receptor activity GO:0042813 8.62 FZD4 TSPAN12

Sources for Retinal Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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