MCID: TLN003
MIFTS: 46

Telangiectasis malady

Summaries for Telangiectasis

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63Wikipedia, 32MalaCards
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Wikipedia:63 Telangiectasias /tɛlˌæn.dʒiː.ɛkˈteɪ.zi.ə/ or angioectasias (also known as spider veins) are... more...

MalaCards: Telangiectasis, also known as telangiectasia, is related to hereditary hemorrhagic telangiectasia and hypertension. An important gene associated with Telangiectasis is NDP (Norrie disease (pseudoglioma)), and among its related pathways are ALK1 signaling events and TGF-beta Signaling Pathway. The compounds tgf beta1 and perillyl alcohol have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and retina, and related mouse phenotypes are normal and cardiovascular system.

Aliases & Classifications for Telangiectasis

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8Disease Ontology, 10DISEASES, 60UMLS, 44Novoseek, 56SNOMED-CT, 39NCIt, 34MeSH
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Aliases & Descriptions:

telangiectasis 8 10 60
telangiectasia 8 44


External Ids:

Disease Ontology8 DOID:1272
NCIt39 C28194
MeSH34 D013684

Related Diseases for Telangiectasis

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

(show top 50)    (show all 368)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary hemorrhagic telangiectasia31.6BMPR2, ACVRL1, ENG
2hypertension30.6BMPR2
3leukemia30.5BMPR2, BMP6, BAK1, ATM, ENG
4coats disease30.4NDP
5angiodysplasia30.1ACVRL1, ENG
6systemic scleroderma30.0CENPB, BMP6, ENG
7primary pulmonary hypertension29.8ACVRL1, BMP6, BMPR2
8vascular disease29.8ACVRL1, SOX18
9arteriovenous malformation29.8ACVRL1, ENG
10klippel-trenaunay syndrome29.6SOX18
11cervical cancer29.6BAK1, OR2AG1
12atherosclerosis29.6ACVRL1, APLN, SOX18, BMP6
13retinitis10.8
14breast cancer10.5
15nijmegen breakage syndrome10.4
16hemorrhagic disease10.3
17pulmonary embolism10.3
18hereditary hemorrhagic telangiectasia type 210.3
19epilepsy telangiectasia10.2
20hereditary hemorrhagic telangiectasia type 310.2
21limited scleroderma10.2
22hypotrichosis-lymphedema-telangiectasia syndrome10.2
23acute leukemia10.2
24pancreatitis10.2
25arteriovenous fistula10.2
26liver disease10.2
27bloom syndrome10.1
28neuronitis10.1
29juvenile polyposis syndrome10.1
30cerebellar ataxia10.1
31cutaneous mastocytosis10.1
32lung cancer10.1
33lymphoblastic leukemia10.1
34early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.1
35hereditary hemorrhagic telangiectasia type 410.1
36juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.1
37cerebritis10.1
38macular retinal edema10.1
39muscular dystrophy10.1
40retinal disease10.1
41glomerulonephritis - sparse hair - telangiectasis10.1
42scleroderma10.1
43squamous cell carcinoma10.1
44tempi syndrome10.1
45generalized essential telangiectasia10.1
46deficiency anemia10.0
47rosacea10.0
48xeroderma pigmentosum10.0
49werner syndrome10.0
50chronic lymphocytic leukemia10.0

Graphical network of the top 20 diseases related to Telangiectasis:



Diseases related to telangiectasis

Clinical Features for Telangiectasis

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Drugs & Therapeutics for Telangiectasis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Telangiectasis

Drug clinical trials:

Search ClinicalTrials for Telangiectasis

Search NIH Clinical Center for Telangiectasis

Search CenterWatch for Telangiectasis

Genetic Tests for Telangiectasis

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Anatomical Context for Telangiectasis

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32MalaCards
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MalaCards organs/tissues related to Telangiectasis:

32
Skin, Liver, Retina, Colon, Lung, Eye, Spinal cord, Brain, Bone, T cells

Animal Models for Telangiectasis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Telangiectasis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4CENPB, ENG, ACVRL1, BAK1, BMPR2, SOX18
2MP:00053857.8NDP, SOX18, APLN, BMPR2, PINX1, ACVRL1
3MP:00053807.8APLN, BMPR2, PINX1, ATM, ACVRL1, ENG
4MP:00053786.9CENPB, SOX18, APLN, BMPR2, BMP6, PINX1

Publications for Telangiectasis

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50PubMed
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Articles related to Telangiectasis:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
Intravitreal bevacizumab in the treatment of idiopathic juxtafoveal telangiectasis type i. (24269459)
2013
2
Fundus autofluorescence patterns in type 2A idiopathic juxtafoveolar retinal telangiectasis. (21786266)
2012
3
MRI findings in giant pontine capillary telangiectasis associated with a developmental venous anomaly. (22191296)
2011
4
Clinical features of idiopathic juxtafoveal telangiectasis in Koreans. (21860567)
2011
5
Novel mutation in PANK2 associated with retinal telangiectasis. (20974629)
2011
6
Integrated clinical evaluation of Type 2A idiopathic juxtafoveolar retinal telangiectasis. (19881399)
2010
7
Idiopathic juxtafoveolar retinal telangiectasis: a current review. (20844678)
2010
8
A case of subretinal neovascularization treated with intravitreal ranibizumab in a patient with idiopathic juxtafoveal retinal telangiectasis. (19503767)
2009
9
Early morphological changes and functional abnormalities in group 2A idiopathic juxtafoveolar retinal telangiectasis using spectral domain optical coherence tomography and microperimetry. (18703550)
2008
10
Macular edema associated with latanoprost use in a patient with idiopathic juxtafoveal retinal telangiectasis. (18369705)
2008
11
Intravitreal pegaptanib reduces fluorescein leakage in idiopathic parafoveal telangiectasis. (18711476)
2008
12
Intravitreal bevacizumab (Avastin) for the treatment of bilateral acquired juxtafoveal retinal telangiectasis associated with choroidal neovascular membrane. (17693997)
2007
13
Iris microhaemangiomas and idiopathic juxtafoveolar retinal telangiectasis. (17083546)
2006
14
Photodynamic therapy of subfoveal neovascular membrane in type 2A idiopathic juxtafoveolar retinal telangiectasis. (15126144)
2004
15
Idiopathic juxtafoveal telangiectasis in association with celiac sprue. (15006867)
2004
16
Lack of apparent short-term benefit of photodynamic therapy in bilateral, acquired, parafoveal telangiectasis without subretinal neovascularization. (15531343)
2004
17
Idiopathic juxtafoveolar retinal telangiectasis: case report and literature review. (12365707)
2002
18
Neovascular membranes associated with idiopathic juxtafoveolar telangiectasis. (11879135)
2002
19
Classification of the spectrum of Coats' disease as subtypes of idiopathic retinal telangiectasis with exudation. (11782226)
2001
20
Retinal telangiectasis and angioid streaks. (11203177)
2000
21
Histopathologic study of presumed parafoveal telangiectasis. (10783967)
2000
22
Idiopathic juxtafoveolar retinal telangiectasis and pigment epithelial hyperplasia: an optical coherence tomographic study. (10088825)
1999
23
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. (10484772)
1999
24
Radiation exposure: a new risk factor for idiopathic perifoveal telangiectasis. (10599653)
1999
25
Histopathologic study of presumed parafoveal telangiectasis. (10458300)
1999
26
Laser photocoagulation and glucose metabolism in idiopathic juxtafoveolar retinal telangiectasis. (9507256)
1998
27
Grid laser photocoagulation for macular edema in bilateral juxtafoveal telangiectasis. (9373114)
1997
28
Hereditary hemorrhagic telangiectasis involving the ampulla of Vater presented with recurrent gastrointestinal bleeding. (8317416)
1993
29
Iodine-123 IMP SPECT before and after bypass surgery in a patient with occlusion of left anterior and middle cerebral arteries with basal abnormal telangiectasis (unilateral Moyamoya disease). (3275095)
1987
30
Parafoveal telangiectasis and diabetic retinopathy. (3942547)
1986
31
Cavernous hemangioma of the retina and retinal telangiectasis. Distinct or related vascular malformations? (3835616)
1985
32
Idiopathic uniocular juxtafoveolar retinal telangiectasis in a female patient. (3002105)
1985
33
Pulmonary arteriovenous fistula with hereditary hemorrhagic telangiectasis. (7169478)
1982
34
Cerebral capillary telangiectasis in an infant. Coincidental Association with hypsarrhythmia. (6895831)
1982
35
Neurological manifestations of hereditary haemorrhagic telangiectasis. (5470119)
1970
36
Symptomatic capillary telangiectasis of the brainstem without hemorrhage. Report of an unusual case. (5534967)
1970
37
Hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber disease) with filamentary keratitis. (5764691)
1969
38
Pulmonary telangiectasis. (13625232)
1958
39
Telangiectasis of skin and spinal cord. (13573017)
1958
40
Encephalic lesions in hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber disease); report of case with the disclosure of microscopic telangiectasis in the leptomeninges. (13413418)
1957
41
Treatment of thrombosis occurring in individuals with hereditary hemorrhagic telangiectasis; report of three cases including two members of one family. (13292786)
1956
42
Submucous telangiectasis of the colon. (13377677)
1956
43
A case of balanitis xerotica obliterans with telangiectasis responding to intravenous procaine. (14382189)
1955
44
Hemorrhagic telangiectasis of the gastrointestinal tract; an obscure source of gastrointestinal bleeding. (13207689)
1954
45
Pulmonary arteriovenous fistula associated with hereditary hemorrhagic telangiectasis; a report of their occurrence in a father and son. (13031424)
1953
46
Histochemical methods in the study of telangiectasis. (12976634)
1952
47
Rutin used in the oral surgery of a patient with hereditary hemorrhagic telangiectasis. (15397357)
1950
48
A case of hereditary haemorrhagic telangiectasis. (20248242)
1947
49
Urticaria Pigmentosa with Telangiectasis occurring in an Elderly Adult. (19989723)
1934
50
Case of Large Lymphangioma or Telangiectasis occupying the Lower Half of Left Abdomen and Left Leg. (19984860)
1926

Genetic Variations for Telangiectasis

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Expression for genes affiliated with Telangiectasis

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

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Pathways for genes affiliated with Telangiectasis

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37NCBI BioSystems Database, 55SinoBiological, 51QIAGEN
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Pathways related to Telangiectasis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9ACVRL1, BMPR2
29.7BMPR2, ACVRL1, ENG
39.4ACVRL1, BMP6, BMPR2
49.3BAK1, ATM, BMPR2
5
Hide members
8.3SOX18, BMPR2, BMP6, ATM, BAK1, ACVRL1

Compounds for genes affiliated with Telangiectasis

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank
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Compounds related to Telangiectasis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tgf beta1449.4ENG, ACVRL1, BMP6
2perillyl alcohol44 2410.3BAK1, BMP6
3doxorubicin44 49 1110.8ENG, BAK1, ATM, BMP6
4threonine448.5BMPR2, BMP6, ATM, ACVRL1, ENG
5nitric oxide44 11 2410.2APLN, BMPR2, BMP6, ATM, BAK1

GO Terms for genes affiliated with Telangiectasis

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16Gene Ontology
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Cellular components related to Telangiectasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.4ENG, ACVRL1, BMPR2, NDP

Biological processes related to Telangiectasis according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1venous blood vessel developmentGO:06084110.1ACVRL1, BMPR2
2negative regulation of DNA biosynthetic processGO:200027910.1ACVRL1, BMPR2
3retina vasculature development in camera-type eyeGO:06129810.0BMPR2, ACVRL1
4lymphatic endothelial cell differentiationGO:06083610.0ACVRL1, BMPR2, SOX18
5lymphangiogenesisGO:00194610.0ACVRL1, BMPR2, SOX18
6artery developmentGO:0608409.9BMPR2, ACVRL1
7negative regulation of vasoconstrictionGO:0459069.9BMPR2, APLN
8positive regulation of BMP signaling pathwayGO:0305139.9ENG, ACVRL1, BMPR2
9positive regulation of bone mineralizationGO:0305019.7BMP6, BMPR2
10negative regulation of endothelial cell proliferationGO:0019379.7ENG, ACVRL1
11positive regulation of endothelial cell differentiationGO:0456039.6ACVRL1, BMP6
12positive regulation of endothelial cell proliferationGO:0019389.6BMPR2, BMP6, ACVRL1
13blood vessel remodelingGO:0019749.5BMPR2, BAK1, ACVRL1
14positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.4ENG, ACVRL1, BMP6, BMPR2
15BMP signaling pathwayGO:0305099.4BMPR2, BMP6, ACVRL1, ENG

Molecular functions related to Telangiectasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta bindingGO:05043110.0ENG, ACVRL1
2activin bindingGO:0481859.7ENG, ACVRL1
3transforming growth factor beta-activated receptor activityGO:0050249.6ENG, ACVRL1, BMPR2

Products for genes affiliated with Telangiectasis

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  • Antibodies
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Sources for Telangiectasis

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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