MCID: RTN019
MIFTS: 21

Retinal Telangiectasia malady

Summaries for Retinal Telangiectasia

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32MalaCards
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MalaCards: 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). Related mouse phenotype immune system.

Aliases & Classifications for Retinal Telangiectasia

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8Disease Ontology, 10DISEASES, 60UMLS, 56SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

retinal telangiectasia 8 10 60


External Ids:

Disease Ontology8 DOID:7736
SNOMED-CT56 84884003
ICD9CM27 362.15

Related Diseases for Retinal Telangiectasia

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17GeneCards, 18GeneDecks
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Diseases related to Retinal Telangiectasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.7
2idiopathic juxtafoveal retinal telangiectasia10.4
3coats disease10.3
4retinal detachment10.1
5retinal vasculopathy with cerebral leukodystrophy10.1
6retinal telangiectasia hypogammaglobulinemia10.1
7neurofibromatosis10.0
8rift valley fever10.0
9hereditary hemorrhagic telangiectasia10.0
10dyskeratosis congenita10.0
11williams-beuren syndrome10.0
12leber congenital amaurosis10.0
13cadasil10.0
14polyarteritis nodosa10.0
15patau syndrome10.0
16angioma serpiginosum10.0
17macular holes10.0
18carotid artery occlusion10.0
19von hippel-lindau disease10.0
20bloch-sulzberger syndrome10.0
21neuronal ceroid lipofuscinosis10.0
22retinal artery occlusion10.0
23retinal disease10.0
24retinoschisis10.0
25kabuki syndrome10.0
26oculorenocerebellar syndrome10.0
27gm1 gangliosidosis type 310.0
28norrie disease10.0
29wyburn mason's syndrome10.0
30cerebelloparenchymal disorder 310.0
31progressive bifocal chorioretinal atrophy10.0
32hec syndrome10.0
33frenkel russe syndrome10.0
34glutaric acidemia type i10.0
35microscopic polyangiitis10.0
36phace syndrome10.0
37retinal dysplasia x-linked10.0
38macroglobulinemia, waldenstrom, somatic10.0
39sturge-weber syndrome, somatic, mosaic10.0
40cowden syndrome 110.0
41woolly hair, autosomal dominant10.0
42fascioscapulohumeral muscular dystrophy 2, digenic10.0
43night blindness - skeletal anomalies - dysmorphism10.0
44short stature - craniofacial anomalies - genital hypoplasia10.0
45retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications10.0
46von hippel anomaly10.0

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



Diseases related to retinal telangiectasia

Clinical Features for Retinal Telangiectasia

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Drugs & Therapeutics for Retinal Telangiectasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Retinal Telangiectasia

Drug clinical trials:

Search ClinicalTrials for Retinal Telangiectasia

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Genetic Tests for Retinal Telangiectasia

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Anatomical Context for Retinal Telangiectasia

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Animal Models for Retinal Telangiectasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Retinal Telangiectasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.6POLK, GRAP2, CTC1

Publications for Retinal Telangiectasia

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50PubMed
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Articles related to Retinal Telangiectasia:

(show all 31)
idTitleAuthorsYear
1
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography. (24150706)
2013
2
Idiopathic macular telangiectasia type 2 (idiopathic juxtafoveolar retinal telangiectasis type 2A, Mac Tel 2). (24160729)
2013
3
Pilot application of iTRAQ to the retinal disease Macular Telangiectasia. (22098468)
2012
4
Intravitreal ranibizumab and laser photocoagulation in the management of idiopathic juxtafoveolar retinal telangiectasia type 1: a case report. (23275792)
2012
5
Pediatric retinal detachment in cutis aplasia and cutis marmorata telangiectasia. (22427150)
2012
6
A role for vascular deficiency in retinal pathology in a mouse model of ataxia-telangiectasia. (21763675)
2011
7
The continuum of primary retinal telangiectasia. (21146470)
2011
8
Peripapillary nerve fiber layer thickening, telangiectasia, and retinal hemorrhages in wernicke encephalopathy. (20182209)
2010
9
Intravitreal ranibizumab as primary treatment for neovascular membrane associated with idiopathic juxtafoveal retinal telangiectasia. (19727795)
2009
10
Ultra wide field angiography in the diagnosis of aneurysmal retinal telangiectasia: a case report. (19241286)
2009
11
Correlation of functional impairment and morphological alterations in patients with group 2A idiopathic juxtafoveal retinal telangiectasia. (18332311)
2008
12
Idiopathic juxtafoveal retinal telangiectasia. (19811762)
2008
13
Group 2A idiopathic juxtafoveolar retinal telangiectasia in monozygotic twins. (15767084)
2005
14
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome). (16352479)
2005
15
Long-term juxtafoveal retinal telangiectasia. (16141860)
2005
16
Retinal telangiectasia in association with macular hole formation. (14716321)
2004
17
Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia. (12972772)
2003
18
A case of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber's disease) with dystrophic calcinosis cutis and retinal lesions. (12227486)
2002
19
Retinal venous telangiectasia and anastomoses with cerebellar venous and cavernous malformation. (11421019)
2001
20
Idiopathic juxtafoveolar retinal telangiectasia: a review and case report. (10874206)
2000
21
Inherited retinal telangiectasia with glial proliferation. (9713794)
1998
22
Acquired peripheral retinal telangiectasia after retinal surgery. (8016454)
1994
23
Picture of the month. Retinal telangiectasia (Coats' disease). (1543186)
1992
24
Retinal telangiectasia. (6493711)
1984
25
Retinal telangiectasia, retinoschisis and retinal detachment. (6508099)
1984
26
Alport's syndrome and retinal telangiectasia. (6571430)
1983
27
Retinal telangiectasia secondary to bilateral carotid artery occlusion. (6349594)
1983
28
The spectrum of retinal telangiectasia. (6623580)
1983
29
Metamorphosis of retinal exudation following argon laser photocoagulation of retinal telangiectasia. (6687093)
1983
30
Rhegmatogenous retinal detachment with retinal telangiectasia. (572641)
1979
31
Retinal telangiectasia associated with hypogammaglobulinemia. (6018656)
1967

Genetic Variations for Retinal Telangiectasia

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Expression for genes affiliated with Retinal Telangiectasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinal Telangiectasia

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Pathways for genes affiliated with Retinal Telangiectasia

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Compounds for genes affiliated with Retinal Telangiectasia

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GO Terms for genes affiliated with Retinal Telangiectasia

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16Gene Ontology
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Biological processes related to Retinal Telangiectasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell signalingGO:0072679.0GRAP2, CRB1

Products for genes affiliated with Retinal Telangiectasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Telangiectasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet