MCID: RTN019
MIFTS: 28

Retinal Telangiectasia

Categories: Cardiovascular diseases, Neuronal diseases

Aliases & Classifications for Retinal Telangiectasia

MalaCards integrated aliases for Retinal Telangiectasia:

Name: Retinal Telangiectasia 12 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:7736
ICD9CM 34 362.15
SNOMED-CT 67 84884003
UMLS 70 C0154835

Summaries for Retinal Telangiectasia

MalaCards based summary : Retinal Telangiectasia is related to retinal detachment and retinal vascular disease. An important gene associated with Retinal Telangiectasia is CTC1 (CST Telomere Replication Complex Component 1), and among its related pathways/superpathways are Chromosome Maintenance and Ribosome biogenesis in eukaryotes. Affiliated tissues include retina and myeloid, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Retinal Telangiectasia

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 retinal detachment 30.0 VEGFA TSPAN12 NDP FZD4
2 retinal vascular disease 29.9 VEGFA TSPAN12 NDP FZD4
3 macular retinal edema 29.8 VEGFA CRB1
4 coats disease 27.8 WRAP53 VEGFA TSPAN12 TINF2 TEN1 SMCHD1
5 macular telangiectasia type 2 11.4
6 cerebroretinal microangiopathy with calcifications and cysts 1 11.3
7 retinal telangiectasia and hypogammaglobulinemia 11.1
8 frenkel russe syndrome 11.1
9 cerebroretinal microangiopathy with calcifications and cysts 2 11.0
10 telangiectasis 10.6
11 persistent hyperplastic primary vitreous, autosomal recessive 10.3 TSPAN12 NDP
12 peripheral retinal degeneration 10.2 TSPAN12 CRB1
13 vitreoretinopathy 10.2 TSPAN12 NDP FZD4
14 dyskeratosis congenita, autosomal recessive 1 10.2 NOP10 NHP2
15 exudative vitreoretinopathy 3 10.2 TSPAN12 NDP FZD4
16 exudative vitreoretinopathy 4 10.2 TSPAN12 NDP FZD4
17 leukocoria 10.2 TSPAN12 NDP FZD4
18 exudative vitreoretinopathy 2, x-linked 10.2 NDP FZD4
19 norrie disease 10.2 TSPAN12 NDP FZD4
20 ischemic neuropathy 10.1 VEGFA NDP
21 chorioretinal scar 10.1 VEGFA CRB1
22 conventional central osteosarcoma 10.1 DUX4L8 DUX4L7
23 hoyeraal hreidarsson syndrome 10.1 TINF2 DKC1
24 macular dystrophy, dominant cystoid 10.1 VEGFA CRB1
25 chorioretinitis 10.0 VEGFA CRB1
26 dyskeratosis congenita autosomal dominant 10.0 TINF2 DKC1
27 vitreous disease 10.0 VEGFA NDP FZD4
28 melanoma, cutaneous malignant 1 10.0 TINF2 TEN1 CTC1
29 retinoschisis 1, x-linked, juvenile 10.0
30 vascular disease 10.0
31 desmoplastic small round cell tumor 10.0 DUX4L8 DUX4L7 DUX4
32 dyskeratosis congenita, x-linked 9.9 TINF2 NOP10 NHP2 DKC1
33 persistent hyperplastic primary vitreous 9.9 VEGFA TSPAN12 NDP FZD4
34 shwachman-diamond syndrome 1 9.9 TINF2 NOP10 NHP2 DKC1
35 dyskeratosis congenita autosomal recessive 9.9 WRAP53 NOP10 NHP2
36 scotoma 9.9 VEGFA CRB1
37 exudative vitreoretinopathy 1 9.9 VEGFA TSPAN12 NDP FZD4
38 diamond-blackfan anemia 9.8 TINF2 NOP10 NHP2 DKC1
39 von hippel-lindau syndrome 9.8
40 takayasu arteritis 9.8
41 myopia 9.8
42 retinal ischemia 9.8
43 uveitis 9.8
44 agammaglobulinemia 9.8
45 ischemia 9.8
46 carotid artery disease 9.8
47 systemic scleroderma 9.8
48 retinal disease 9.8
49 macular holes 9.8
50 carotid artery occlusion 9.8

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



Diseases related to Retinal Telangiectasia

Symptoms & Phenotypes for Retinal Telangiectasia

GenomeRNAi Phenotypes related to Retinal Telangiectasia according to GeneCards Suite gene sharing:

26 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10 DKC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10 DUX4L7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10 DKC1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10 FZD4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10 DKC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10 FZD4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10 DUX4 DUX4L8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10 DKC1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-144 10 DUX4L7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10 DKC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10 DKC1 DUX4 DUX4L8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-175 10 FZD4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10 FZD4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10 DKC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10 DUX4L7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10 DUX4 DUX4L7 DUX4L8 FZD4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10 FZD4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10 DUX4 DUX4L7 DUX4L8
19 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10 DKC1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10 DKC1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10 DUX4 DUX4L8
22 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10 DKC1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10 DKC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10 DKC1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10 DUX4 DUX4L7 DUX4L8
26 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10 DKC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-38 10 FZD4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10 FZD4
29 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10 FZD4
30 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10 DKC1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10 DUX4 DUX4L7 DUX4L8
32 Increased shRNA abundance (Z-score > 2) GR00366-A-86 10 DKC1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10 DKC1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10 DKC1 DUX4L7
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.65 DUX4L7
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 9.65 FZD4
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.65 FZD4
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.65 DUX4 DUX4L7 DUX4L8
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-185 9.65 FZD4
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.65 FZD4
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.65 FZD4
42 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.65 DUX4L7

MGI Mouse Phenotypes related to Retinal Telangiectasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.1 CTC1 DKC1 FZD4 NDP TINF2 VEGFA

Drugs & Therapeutics for Retinal Telangiectasia

Search Clinical Trials , NIH Clinical Center for Retinal Telangiectasia

Genetic Tests for Retinal Telangiectasia

Anatomical Context for Retinal Telangiectasia

MalaCards organs/tissues related to Retinal Telangiectasia:

40
Retina, Myeloid

Publications for Retinal Telangiectasia

Articles related to Retinal Telangiectasia:

(show top 50) (show all 90)
# Title Authors PMID Year
1
Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb1. 61
33808129 2021
2
Clinical features and prognostic factors in 71 eyes over 20 years from patients with Coats' disease in Korea. 61
33731773 2021
3
Neglected Coats Disease. 61
33090232 2020
4
Three-Year Results of Management of Adult-Onset Coats' Disease by Possibly Targeting Placental Growth Factor. 61
33133822 2020
5
Unilateral Macular Choroidal Neovascularization; a Rare Manifestation in Chronic Myelogenous Leukemia. 61
32510022 2020
6
Coats disease: An overview of classification, management and outcomes. 61
31124484 2019
7
RETINAL TELANGIECTASIA IN PATIENTS WITH PATHOLOGIC MYOPIA: A CASE SERIES. 61
29232337 2019
8
RETINAL TELANGIECTASIA ASSOCIATED WITH OPTIC DISK PIT MACULOPATHY. 61
30913123 2019
9
A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti. 61
30036148 2018
10
Atypical presentation of Coats' Syndrome in facioscapulohumeral dystrophy - Reflecting the variation in phenotypic manifestations. 61
30057966 2018
11
Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment. 61
28528991 2017
12
Coats' disease with retinochoroidal anastomosis. 61
28757699 2017
13
Widening use of dexamethasone implant for the treatment of macular edema. 61
28860707 2017
14
Peripheral Retinal Telangiectasia and Ischemia in Takayasu Arteritis. 61
27110659 2016
15
Coats' Disease: Very Long-Term Outcome After Early Stage Conventional Treatment. 61
27014383 2016
16
Infrared autofluorescence, short-wave autofluorescence and spectral-domain optical coherence tomography of optic disk melanocytomas. 61
27275427 2016
17
Intraoperative fluorescein angiography-guided treatment in children with early Coats' disease. 61
25824326 2015
18
A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia. 61
25878282 2015
19
Coats-like retinopathy in a Young Indian Rhesus Macaque (Macaca mulatta). 61
25656754 2015
20
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation. 61
25928698 2015
21
The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors. 61
25147295 2015
22
Fluorescein angiography versus spectral domain optical coherence tomography in idiopathic juxtafoveal retinal telangiectasia. 61
25196460 2014
23
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography - can we choose? 61
25308781 2014
24
Management of idiopathic retinal vasoproliferative tumors by slit-lamp laser or endolaser photocoagulation. 61
24631475 2014
25
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography. 61
24150706 2014
26
Leber's miliary aneurysms. 61
24082673 2013
27
Intravitreal ranibizumab and laser photocoagulation in the management of idiopathic juxtafoveolar retinal telangiectasia type 1: a case report. 61
23275792 2012
28
Fundus autofluorescence patterns in type 2A idiopathic juxtafoveolar retinal telangiectasis. 61
21786266 2012
29
Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy. 61
22525183 2012
30
Bevacizumab for Coats' disease with exudative retinal detachment and risk of vitreoretinal traction. 61
21653215 2012
31
CRB1 mutations in inherited retinal dystrophies. 61
22065545 2012
32
Differential modulation of retinal degeneration by Ccl2 and Cx3cr1 chemokine signalling. 61
22545116 2012
33
[Idiopathic juxtafoveolar teleangiectasia 2a in spectral domain optical coherence tomography (SdOCT)]. 61
22783737 2012
34
Role of intravitreal bevacizumab in adult onset Coats' disease. 61
21437759 2011
35
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. 61
20956273 2011
36
The continuum of primary retinal telangiectasia. 61
21146470 2011
37
A population-based study of Coats disease in the United Kingdom II: investigation, treatment, and outcomes. 61
20865028 2010
38
Coats' disease: an Indian perspective. 61
20195034 2010
39
Intravitreal ranibizumab as primary treatment for neovascular membrane associated with idiopathic juxtafoveal retinal telangiectasia. 61
19727795 2009
40
Structural and functional changes over time in MacTel patients. 61
19491718 2009
41
Macular ischemia associated with imatinib mesylate therapy for chronic myeloid leukemia. 61
25391063 2009
42
Ultra wide field angiography in the diagnosis of aneurysmal retinal telangiectasia: a case report. 61
19241286 2009
43
[Leber miliary aneurysms--a case report]. 61
19673442 2009
44
Idiopathic juxtafoveal retinal telangiectasia. 61
19811762 2008
45
Characterization of idiopathic macular telangiectasia type 2 by fundus fluorescein angiography in Indian population. 61
18609479 2008
46
Correlation of functional impairment and morphological alterations in patients with group 2A idiopathic juxtafoveal retinal telangiectasia. 61
18332311 2008
47
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). 61
18076099 2008
48
Manifestation of Coats' disease by age in Taiwan. 61
17539789 2007
49
Observations on the management of Coats' disease: less is more. 61
17020897 2007
50
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome). 61
16352479 2005

Variations for Retinal Telangiectasia

Expression for Retinal Telangiectasia

Search GEO for disease gene expression data for Retinal Telangiectasia.

Pathways for Retinal Telangiectasia

Pathways related to Retinal Telangiectasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 WRAP53 TINF2 NHP2 DKC1
2 10.84 NOP10 NHP2 DKC1

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 chromosome GO:0005694 9.85 WRAP53 TINF2 TEN1 SMCHD1 CTC1
2 Cajal body GO:0015030 9.67 WRAP53 NOP10 NHP2 DKC1
3 box H/ACA telomerase RNP complex GO:0090661 9.5 NOP10 NHP2 DKC1
4 small nucleolar ribonucleoprotein complex GO:0005732 9.43 NOP10 NHP2
5 box H/ACA snoRNP complex GO:0031429 9.43 NOP10 NHP2 DKC1
6 CST complex GO:1990879 9.4 TEN1 CTC1
7 box H/ACA scaRNP complex GO:0072589 9.33 NOP10 NHP2 DKC1
8 telomerase holoenzyme complex GO:0005697 9.26 WRAP53 NOP10 NHP2 DKC1
9 chromosome, telomeric region GO:0000781 9.1 WRAP53 TINF2 TEN1 SMCHD1 NHP2 CTC1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.74 NOP10 NHP2 DKC1
2 ribosome biogenesis GO:0042254 9.67 NOP10 NHP2 DKC1
3 positive regulation of telomerase activity GO:0051973 9.58 WRAP53 DKC1
4 positive regulation of DNA repair GO:0045739 9.58 WRAP53 SMCHD1
5 chromosome organization GO:0051276 9.56 SMCHD1 CTC1
6 retina layer formation GO:0010842 9.55 TSPAN12 CRB1
7 eye photoreceptor cell development GO:0042462 9.54 VEGFA CRB1
8 telomere capping GO:0016233 9.54 TINF2 TEN1 CTC1
9 positive regulation of double-strand break repair via nonhomologous end joining GO:2001034 9.52 WRAP53 SMCHD1
10 pseudouridine synthesis GO:0001522 9.51 NOP10 DKC1
11 negative regulation of telomere maintenance via telomerase GO:0032211 9.5 TINF2 TEN1 CTC1
12 positive regulation of establishment of protein localization to telomere GO:1904851 9.48 WRAP53 DKC1
13 retina vasculature morphogenesis in camera-type eye GO:0061299 9.46 NDP FZD4
14 scaRNA localization to Cajal body GO:0090666 9.43 WRAP53 DKC1
15 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.43 NOP10 NHP2 DKC1
16 extracellular matrix-cell signaling GO:0035426 9.4 NDP FZD4
17 rRNA pseudouridine synthesis GO:0031118 9.33 NOP10 NHP2 DKC1
18 snRNA pseudouridine synthesis GO:0031120 9.13 NOP10 NHP2 DKC1
19 telomere maintenance via telomerase GO:0007004 8.92 WRAP53 NOP10 NHP2 DKC1

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 9.33 TINF2 TEN1 CTC1
2 Wnt-activated receptor activity GO:0042813 9.26 TSPAN12 FZD4
3 box H/ACA snoRNA binding GO:0034513 9.13 NOP10 NHP2 DKC1
4 telomerase RNA binding GO:0070034 8.92 WRAP53 NOP10 NHP2 DKC1

Sources for Retinal Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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