MCID: RTN019
MIFTS: 27

Retinal Telangiectasia

Categories: Eye diseases

Aliases & Classifications for Retinal Telangiectasia

MalaCards integrated aliases for Retinal Telangiectasia:

Name: Retinal Telangiectasia 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:7736
ICD9CM 34 362.15
SNOMED-CT 64 84884003
UMLS 69 C0154835

Summaries for Retinal Telangiectasia

MalaCards based summary : Retinal Telangiectasia is related to coats disease and retinal detachment. 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 no phenotypic analysis and pigmentation

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.46 CTC1 FZD4 NDP TINF2
2 pigmentation MP:0001186 9.13 CRB1 FZD4 NDP
3 vision/eye MP:0005391 8.92 CRB1 FZD4 NDP TSPAN12

Drugs & Therapeutics for Retinal Telangiectasia

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


# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Avastin in Juxtafoveal Telangiectasias Unknown status NCT00406380 Phase 3 Bevacizumab
2 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3 Intravitreal Injection of Bevacizumab (1.25 mg/0.05ml)
3 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
4 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1

Search NIH Clinical Center for Retinal Telangiectasia

Genetic Tests for Retinal Telangiectasia

Anatomical Context for Retinal Telangiectasia

MalaCards organs/tissues related to Retinal Telangiectasia:

38
Eye

Publications for Retinal Telangiectasia

Articles related to Retinal Telangiectasia:

(show all 30)
# Title Authors Year
1
Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment. ( 28528991 )
2017
2
RETINAL TELANGIECTASIA IN PATIENTS WITH PATHOLOGIC MYOPIA: A CASE SERIES. ( 29232337 )
2017
3
Peripheral retinal telangiectasia and ischemia in Takayasu's arteritis. ( 27110659 )
2016
4
A New CRB1 Rat Mutation Links MA1ller Glial Cells to Retinal Telangiectasia. ( 25878282 )
2015
5
Fluorescein angiography versus spectral domain optical coherence tomography in idiopathic juxtafoveal retinal telangiectasia. ( 25196460 )
2014
6
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography - can we choose? ( 25308781 )
2014
7
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography. ( 24150706 )
2013
8
Intravitreal ranibizumab and laser photocoagulation in the management of idiopathic juxtafoveolar retinal telangiectasia type 1: a case report. ( 23275792 )
2012
9
The continuum of primary retinal telangiectasia. ( 21146470 )
2011
10
Intravitreal ranibizumab as primary treatment for neovascular membrane associated with idiopathic juxtafoveal retinal telangiectasia. ( 19727795 )
2009
11
Ultra wide field angiography in the diagnosis of aneurysmal retinal telangiectasia: a case report. ( 19241286 )
2009
12
Correlation of functional impairment and morphological alterations in patients with group 2A idiopathic juxtafoveal retinal telangiectasia. ( 18332311 )
2008
13
Idiopathic juxtafoveal retinal telangiectasia. ( 19811762 )
2008
14
Group 2A idiopathic juxtafoveolar retinal telangiectasia in monozygotic twins. ( 15767084 )
2005
15
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome). ( 16352479 )
2005
16
Long-term juxtafoveal retinal telangiectasia. ( 16141860 )
2005
17
Retinal telangiectasia in association with macular hole formation. ( 14716321 )
2004
18
Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia. ( 12972772 )
2003
19
Idiopathic juxtafoveolar retinal telangiectasia: a review and case report. ( 10874206 )
2000
20
Inherited retinal telangiectasia with glial proliferation. ( 9713794 )
1998
21
Acquired peripheral retinal telangiectasia after retinal surgery. ( 8016454 )
1994
22
Picture of the month. Retinal telangiectasia (Coats' disease). ( 1543186 )
1992
23
Retinal telangiectasia, retinoschisis and retinal detachment. ( 6508099 )
1984
24
Retinal telangiectasia. ( 6493711 )
1984
25
Metamorphosis of retinal exudation following argon laser photocoagulation of retinal telangiectasia. ( 6687093 )
1983
26
Alport's syndrome and retinal telangiectasia. ( 6571430 )
1983
27
The spectrum of retinal telangiectasia. ( 6623580 )
1983
28
Retinal telangiectasia secondary to bilateral carotid artery occlusion. ( 6349594 )
1983
29
Rhegmatogenous retinal detachment with retinal telangiectasia. ( 572641 )
1979
30
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

Cellular components related to Retinal Telangiectasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.96 CTC1 TINF2
2 chromosome, telomeric region GO:0000781 8.62 CTC1 TINF2

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.43 FZD4 NDP
2 membrane organization GO:0061024 9.4 CRB1 FZD4
3 positive regulation of DNA binding transcription factor activity GO:0051091 9.37 FZD4 NDP
4 canonical Wnt signaling pathway GO:0060070 9.32 FZD4 NDP
5 telomere capping GO:0016233 9.26 CTC1 TINF2
6 negative regulation of telomere maintenance via telomerase GO:0032211 9.16 CTC1 TINF2
7 retina vasculature morphogenesis in camera-type eye GO:0061299 8.96 FZD4 NDP
8 extracellular matrix-cell signaling GO:0035426 8.62 FZD4 NDP

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

# Name GO ID Score Top Affiliating Genes
1 telomeric DNA binding GO:0042162 8.96 CTC1 TINF2
2 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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