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
Clinical features of idiopathic juxtafoveal telangiectasis in Koreans. (21860567)
2011
2
Pulmonary arteriovenous fistula in hereditary hemorrhagic telangiectasis. (19763660)
2009
3
Optical coherence tomography characteristics of group 2A idiopathic parafoveal telangiectasis. (18046227)
2007
4
Indocyanine-green-mediated photothrombosis (IMP) with intravitreal triamcinolone acetonide for macular edema secondary to group 2A idiopathic parafoveal telangiectasis without choroidal neovascularization: a pilot study. (17619895)
2007
5
Full-thickness macular hole formation in idiopathic parafoveal telangiectasis. (17420701)
2007
6
Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis. (17218917)
2007
7
A clue for telangiectasis in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. (16902284)
2006
8
Morphologic features of group 2A idiopathic juxtafoveolar retinal telangiectasis in three-dimensional optical coherence tomography. (16876527)
2006
9
Optical coherence tomography in group 2A idiopathic juxtafoveolar telangiectasis. (16355952)
2005
10
Use of intravitreal triamcinolone acetonide injection in unilateral idiopathic juxtafoveal telangiectasis. (16181291)
2005
11
Juxtafoveal telangiectasis-a name change? (15689826)
2005
12
Transpupillary thermotherapy for subfoveal neovascularization secondary to group 2A idiopathic juxtafoveolar telangiectasis. (15234300)
2004
13
Juxtafoveal telangiectasis-a name change? (15187680)
2004
14
Intravitreal triamcinolone acetonide for bilateral acquired parafoveal telangiectasis. (14609935)
2003
15
Chorioretinal anastomosis probably occurs infrequently in type 2A idiopathic juxtafoveolar retinal telangiectasis. (12963631)
2003
16
Retinal telangiectasis and angioid streaks. (11203177)
2000
17
Idiopathic juxtafoveolar retinal telangiectasis: clinical pattern in 19 cases. (11054001)
2000
18
Idiopathic juxtafoveolar retinal telangiectasis and pigment epithelial hyperplasia: an optical coherence tomographic study. (10088825)
1999
19
Bilateral juxtafoveal telangiectasis in a family. (10380032)
1999
20
Dermatography for the treatment of telangiectasis after radiation therapy in the head and neck: report of cases. (8994471)
1997
21
Retinal telangiectasis and proliferation of the retinal vessels in a family. (8272343)
1993
22
Idiopathic juxtafoveolar retinal telangiectasis. Update of classification and follow-up study. (8414413)
1993
23
Familial parafoveal telangiectasis. (8508342)
1993
24
Subretinal hemorrhage after grid laser photocoagulation for idiopathic juxtafoveolar retinal telangiectasis. (8233321)
1993
25
Hybrid T cell receptor genes formed by interlocus recombination in normal and ataxia-telangiectasis lymphocytes. (1695665)
1990
26
A case of adenocarcinoma of the colon in a patient with hereditary hemorrhagic telangiectasis. (2731443)
1989
27
Bloody tears associated with familial telangiectasis. Case report. (3675278)
1987
28
Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness. (4062636)
1985
29
Ataxia-telangiectasis: a multisystem hereditary disease with immunodeficiency, impaired organ maturation, x-ray hypersensitivity, and a high incidence of neoplasia. (6193747)
1983
30
Idiopathic juxtafoveolar retinal telangiectasis. (7082207)
1982
31
Posterior non-vascularized proliferative extraretinopathy and peripheral nodular retinal telangiectasis. (6964653)
1982
32
Giant cerebral capillary telangiectasis in an infant. (7094672)
1982
33
Ischemia: a cause of hepatic telangiectasis in cattle. (7103227)
1982
34
Recurrent epistaxis secondary to hereditary haemorrhagic telangiectasis. (6818386)
1982
35
Denouement and discussion. Bloom's syndrome. (Congenital telangiectasis erythema and stunted growth). (5928823)
1966
36
Impaired in vitro lymphocyte transformation in patients with ataxia-telangiectasis. (5920654)
1966
37
Ataxia-telangiectasis: report of a case. (13889748)
1962
38
The pathogenesis of telangiectasis in the bovine liver. I. The incidence of Telangiectasis. (13228863)
1955
39
Hemorrhagic telangiectasis: case report. (13053631)
1953
40
Hereditary hemorrhagic telangiectasis. (13111030)
1953
41
Hereditary hemorrhagic telangiectasis. (13029920)
1953
42
Hereditary hemorrhagic telangiectasis as an eye disease. (13030171)
1952
43
Multiple hemorrhagic telangiectasis (Rendu, Osler, Weber disease) a case report with visceral involvement. (18135374)
1949
44
Hereditary hemorrhagic telangiectasis. (18116024)
1949
45
Cavernous pulmonary telangiectasis. (18148825)
1949
46
Hereditary hemorrhagic telangiectasis treated with rutin. (18098632)
1948
47
Experimentally developed telangiectasis and sawdust liver lesions in rats. (18863408)
1948
48
Telangiectasis, sawdust, and abscesses in the livers of beef cattle. (20289323)
1947
49
Hereditary Haemorrhagic Telangiectasis. (20785985)
1945
50
Telangiectasis of the Cheek. (19972850)
1908

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