MCID: RTN019
MIFTS: 25

Retinal Telangiectasia malady

Eye diseases category

Aliases & Classifications for Retinal Telangiectasia

About this section

Aliases & Descriptions for Retinal Telangiectasia:

Name: Retinal Telangiectasia 10 12 65


Classifications:



External Ids:

Disease Ontology10 DOID:7736
SNOMED-CT59 84884003
ICD9CM29 362.15

Summaries for Retinal Telangiectasia

About this section
MalaCards based summary: Retinal Telangiectasia is related to retinitis and idiopathic juxtafoveal retinal telangiectasia. 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 hearing/vestibular/ear.

Related Diseases for Retinal Telangiectasia

About this section

Diseases related to Retinal Telangiectasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.7
2idiopathic juxtafoveal retinal telangiectasia10.6
3coats disease10.3
4retinal telangiectasia hypogammaglobulinemia10.3
5cerebroretinal microangiopathy with calcifications and cysts10.3
6facioscapulohumeral muscular dystrophy 110.2
7retinal detachment10.2
8von hippel-lindau syndrome10.0
9chorioretinal atrophy, progressive bifocal10.0
10williams-beuren syndrome10.0
11sturge-weber syndrome, somatic, mosaic10.0
12spinocerebellar ataxia, autosomal recessive 210.0
13revesz syndrome10.0
14glutaricaciduria, type i10.0
15retinoschisis10.0
16norrie disease10.0
17incontinentia pigmenti10.0
18hereditary hemorrhagic telangiectasia10.0
19retinitis pigmentosa10.0
20waldenstrom macroglobulinemia10.0
21rift valley fever10.0
22cadasil10.0
23patau syndrome10.0
24polyarteritis nodosa10.0
25gangliosidosis gm110.0
26neurofibromatosis10.0
27macular holes10.0
28cowden disease10.0
29angioma serpiginosum10.0
30carotid artery occlusion10.0
31frenkel russe syndrome10.0
32hec syndrome10.0
33hereditary endotheliopathy, retinopathy, nephropathy, and stroke10.0
34microscopic polyangiitis10.0
35oculorenocerebellar syndrome10.0
36phace syndrome10.0
37retinal dysplasia x-linked10.0
38woolly hair syndrome10.0
39wyburn mason's syndrome10.0
40aneurysm10.0
41night blindness - skeletal anomalies - dysmorphism10.0
42short stature - craniofacial anomalies - genital hypoplasia10.0
43retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications10.0
44cerebroretinal vasculopathy10.0
45von hippel anomaly10.0
46bronchiectasis10.0CTC1, HES7
47osteoporosis-pseudoglioma syndrome9.9FZD4, NDP
48exudative vitreoretinopathy 2, x-linked9.9FZD4, NDP
49hypopyon ulcer9.9FZD4, NDP
50villous adenoma9.9CTC1, FZD4, NDP

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



Diseases related to retinal telangiectasia

Symptoms for Retinal Telangiectasia

About this section

Drugs & Therapeutics for Retinal Telangiectasia

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 31820216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2AnecortavePhase 231
3
FluoresceinapprovedPhase 11042321-07-516850
Synonyms:
2-(6-Hydroxy-3-oxo-3H-xanthen-9-yl)-benzoic acid
3',6'-dihydroxyfluoran
3,6-fluorandiol
9-(o-carboxyphenyl)-6-hydroxy-3-isoxanthenone
9-(o-carboxyphenyl)-6-hydroxy-3H-xanthen-3-one
Ak-fluor
C.I. Solvent Yellow 94
D and C Yellow No. 7
 
D&C Yellow No. 7
Fluorescein disodium
Fluoresceine
Fluorescite
Fluoreszein
Japan Yellow 201
Resorcinolphthalein
Solvent Yellow 94
Yellow fluorescein
4Carotenoids111

Interventional clinical trials:

(show all 17)
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
17The 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

About this section

Anatomical Context for Retinal Telangiectasia

About this section

MalaCards organs/tissues related to Retinal Telangiectasia:

33
Eye

Animal Models for Retinal Telangiectasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Retinal Telangiectasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2CRB1, FZD4, NDP
2MP:00053778.8FZD4, NDP, TSPAN12
3MP:00053918.5CRB1, FZD4, NDP, TSPAN12

Publications for Retinal Telangiectasia

About this section

Articles related to Retinal Telangiectasia:

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

Variations for Retinal Telangiectasia

About this section

Expression for genes affiliated with Retinal Telangiectasia

About this section
Search GEO for disease gene expression data for Retinal Telangiectasia.

Pathways for genes affiliated with Retinal Telangiectasia

About this section

GO Terms for genes affiliated with Retinal Telangiectasia

About this section

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:006129910.0FZD4, NDP
3positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.7FZD4, NDP
4canonical Wnt signaling pathwayGO:00600709.7FZD4, NDP
5sensory perception of soundGO:00076059.4FZD4, NDP
6vasculogenesisGO:00015709.2AGGF1, FZD4

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

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet