MCID: RTN019
MIFTS: 25

Retinal Telangiectasia malady

Category: Eye diseases

Aliases & Classifications for Retinal Telangiectasia

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Aliases & Descriptions for Retinal Telangiectasia:

Name: Retinal Telangiectasia 10 12 65

Classifications:



External Ids:

Disease Ontology10 DOID:7736
SNOMED-CT59 84884003
ICD9CM29 362.15
UMLS65 C0154835

Summaries for Retinal Telangiectasia

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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 (CTS Telomere Maintenance Complex Component 1), and among its related pathways is Non-Canonical Wnt Pathway. Affiliated tissues include eye, brain and bone, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Related Diseases for Retinal Telangiectasia

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic juxtafoveal retinal telangiectasia12.5
2retinal telangiectasia hypogammaglobulinemia12.3
3coats disease11.7
4frenkel russe syndrome11.4
5cerebroretinal microangiopathy with calcifications and cysts10.5
6hyperostosis, endosteal10.0FZD4, NDP
7peeling skin syndrome9.9FZD4, NDP
8myocardial infarction9.9
9asthma9.9
10multiple myeloma9.9
11pancreatic cancer9.9
12focal dermal hypoplasia9.9
13cerebral palsy9.9
14myeloma9.9
15dental caries9.9
16ovarian cancer9.9
17endometriosis9.9
18oligodendroglioma9.9
19cerebritis9.9
20pancreatitis9.9
21leiomyomatosis9.9
22intravenous leiomyomatosis9.9
23cerebrovascular disease9.9
24anaplastic oligodendroglioma9.9
25growth hormone deficiency9.9
26oligoastrocytoma9.9
27spasticity9.9
28endotheliitis9.9
29rheumatic congestive heart failure9.9NDP, RS1
30spondyloepiphyseal dysplasia tarda9.8NDP, RS1
31neuroaspergillosis9.8CRB1, RS1
32exudative vitreoretinopathy 2, x-linked9.8FZD4, NDP
33achondrogenesis, type ii or hypochondrogenesis9.8NDP, RS1
34deficiency anemia9.7CRB1, RS1
35albinism, oculocutaneous, type ia9.7FZD4, NDP, TSPAN12
36psychotic disorder9.7FZD4, NDP, TSPAN12
37embryonal testis carcinoma9.6CRB1, NDP, RS1
38bullous skin disease9.6CRB1, RS1
39blind hypertensive eye9.5FZD4, NDP, RS1
40posterior polar cataract9.5CTC1, FZD4, NDP, TSPAN12
41delusional disorder9.3CTC1, FZD4, NDP, RS1
42thymus gland disease9.2FZD4, NDP, RS1, TSPAN12
43retina lymphoma8.4AGGF1, CRB1, CTC1, FZD4, NDP, RS1

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



Diseases related to retinal telangiectasia

Symptoms for Retinal Telangiectasia

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Drugs & Therapeutics for Retinal Telangiectasia

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 31875216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2Angiogenesis Modulating AgentsPhase 3, Phase 1, Phase 23611
3Angiogenesis InhibitorsPhase 3, Phase 1, Phase 23688
4
RanibizumabapprovedPhase 1, Phase 2460347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
5Immunologic FactorsPhase 1, Phase 218483
6AnecortavePhase 231
7MitogensPhase 11386
8Endothelial Growth FactorsPhase 1328
9VaccinesPhase 16085
10Carotenoids119

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

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Anatomical Context for Retinal Telangiectasia

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MalaCards organs/tissues related to Retinal Telangiectasia:

33
Eye, Brain, Bone, Placenta, Breast, Monocytes, Neutrophil

Animal Models for Retinal Telangiectasia or affiliated genes

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MGI Mouse Phenotypes related to Retinal Telangiectasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9FZD4, NDP, TSPAN12
2MP:00011868.2CRB1, FZD4, NDP, RS1
3MP:00053917.6CRB1, FZD4, NDP, RS1, TSPAN12

Publications for Retinal Telangiectasia

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Articles related to Retinal Telangiectasia:

(show all 27)
idTitleAuthorsYear
1
Association between serum tissue inhibitor of matrix metalloproteinase-1 levels and mortality in patients with severe brain trauma injury. (24728097)
2014
2
DYRK2 controls the epithelial-mesenchymal transition in breast cancer by degrading Snail. (23791882)
2013
3
Two is better than one: a case of homozygous myotonic dystrophy type 1. (23704040)
2013
4
Transduction of mechanical and cytoskeletal cues by YAP and TAZ. (22895435)
2012
5
Single photon emission computed tomography/computed tomography of the skull in malignant otitis externa. (21764178)
2012
6
Reduction of retinopathy of prematurity in extremely low gestational age newborns treated with recombinant human Cu/Zn superoxide dismutase. (22710821)
2012
7
Controlled spatial and conformational display of immobilised bone morphogenetic protein-2 and osteopontin signalling motifs regulates osteoblast adhesion and differentiation in vitro. (20459712)
2010
8
sHLA-I Contamination, a novel mechanism to explain ex vivo/in vitro modulation of IL-10 synthesis and release in CD8(+) T lymphocytes and in neutrophils following intravenous immunoglobulin infusion. (20127276)
2010
9
Direct analysis of clinical relevant single bacterial cells from cerebrospinal fluid during bacterial meningitis by means of micro-Raman spectroscopy. (19343686)
2009
10
Symptoms of postpartum depression associated with elevated levels of interleukin-1 beta during the first month postpartum. (18829596)
2008
11
Tumor-derived fibronectin is involved in melanoma cell invasion and regulated by V600E B-Raf signaling pathway. (16960555)
2007
12
Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening. (17705236)
2007
13
Induction of heme oxygenase-1 inhibits monocyte chemoattractant protein-1 mRNA expression in U937 cells. (16474202)
2006
14
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. (16489001)
2006
15
Age- and stage-dependent accumulation of advanced glycation end products in intracellular deposits in normal and Alzheimer's disease brains. (15238435)
2005
16
Effectiveness and tolerability of a standardized phytodrug derived from Solanum chrysotrichum on Tinea pedis: a controlled and randomized clinical trial. (12802717)
2003
17
Study of MICA alleles in 201 African Americans by multiplexed single nucleotide extension (MSNE) typing. (12507824)
2003
18
Recombinant truncated flagellin of Burkholderia pseudomallei as a molecular probe for diagnosis of melioidosis. (12738642)
2003
19
Effects of acute hyperglycemia on endothelium-dependent vasodilation in patients with diabetes mellitus or impaired glucose metabolism. (12791513)
2003
20
Molecular defects of the CYP21 gene in Spanish girls with isolated precocious pubarche. (12370110)
2002
21
Randomized comparison of coronary thrombolysis achieved with double-bolus reteplase (recombinant plasminogen activator) and front-loaded, accelerated alteplase (recombinant tissue plasminogen activator) in patients with acute myocardial infarction. The RAPID II Investigators. (8790022)
1996
22
Nuclear foci of mammalian Rad51 recombination protein in somatic cells after DNA damage and its localization in synaptonemal complexes. (7892263)
1995
23
Pyloric stenosis is a pediatrician's diagnosis. (8008463)
1994
24
Acoustic-phonetic contrasts and intelligibility in the dysarthria associated with mixed cerebral palsy. (1573870)
1992
25
Microtubular aggregates in the rough endoplasmic reticulum of a myxoid chondrosarcoma. (6927668)
1980
26
Central giant-cell reparative granuloma of mandible. Report of a case. (5260647)
1969
27
The incidence of placenta praevia and antepartum haemorrhage according to maternal age and parity. (20249871)
1947

Variations for Retinal Telangiectasia

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Expression for genes affiliated with Retinal Telangiectasia

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Search GEO for disease gene expression data for Retinal Telangiectasia.

Pathways for genes affiliated with Retinal Telangiectasia

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4FZD4, NDP

GO Terms for genes affiliated with Retinal Telangiectasia

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

idNameGO IDScoreTop Affiliating Genes
1canonical Wnt signaling pathwayGO:00600709.6FZD4, NDP
2sensory perception of soundGO:00076059.4FZD4, NDP
3Wnt signaling pathwayGO:00160559.4FZD4, NDP
4angiogenesisGO:00015259.1AGGF1, TSPAN12

Sources for Retinal Telangiectasia

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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