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:

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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, Brain, Spinal cord, Lung, T cells, Bone, Eye

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:00053857.8ENG, NDP, SOX18, APLN, BMPR2, PINX1
3MP:00053807.8APLN, BMPR2, PINX1, ATM, ACVRL1, ENG
4MP:00053786.9APLN, ENG, CENPB, ATM, PINX1, BMP6

Publications for Telangiectasis

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50PubMed
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Articles related to Telangiectasis:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
Telangiectasis in CREST syndrome and systemic sclerosis: correlation of clinical and pathological features with response to pulsed dye laser treatment. (23494102)
2014
2
Occlusive idiopathic juxtafoveolar retinal telangiectasis type 4. (23769792)
2013
3
Re: Retinal pigment epitheliopathy, macular telangiectasis, and intraretinal crystal deposits in HIV-positive patients receiving ritonavir. (22277908)
2012
4
Intravitreal triamcinolone for management of idiopathic juxtafoveolar telangiectasis. (20606875)
2010
5
Resolution of macular edema in idiopathic juxtafoveal telangiectasis using PDT. (19205501)
2009
6
Bladder wall telangiectasis causing life-threatening haematuria in ataxia-telangiectasia: a new observation. (18394116)
2008
7
Re: Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis. (18301049)
2008
8
Centripetal retinal capillary proliferation in idiopathic parafoveolar telangiectasis. (18024824)
2007
9
Optical coherence tomography findings in idiopathic juxtafoveal retinal telangiectasis. (17120013)
2007
10
Idiopathic juxtafoveolar retinal telangiectasis in monozygotic twins. (18024833)
2007
11
Intravitreal bevacizumab for macular edema from idiopathic juxtafoveal retinal telangiectasis. (17396701)
2007
12
Intravitreal bevacizumab (Avastin) associated with the regression of subretinal neovascularization in idiopathic juxtafoveolar retinal telangiectasis. (17136357)
2007
13
Subretinal neovascular membrane associated with type 2a idiopathic juxtafoveolar telangiectasis in pseudoxanthoma elasticum. (16988836)
2007
14
Optical coherence tomography in group 2A idiopathic juxtafoveolar retinal telangiectasis. (17030708)
2006
15
Parafoveal retinal telangiectasis: light and electron microscopy studies. 1977. (16049361)
2005
16
Bilateral sequential photodynamic therapy for sub-retinal neovascularization with type 2A parafoveal telangiectasis. (16086966)
2005
17
Photodynamic therapy and intravitreal triamcinolone for a subretinal neovascularization in bilateral idiopathic juxtafoveal telangiectasis. (15531339)
2004
18
Hereditary hemorrhagic telangiectasis treated by the harmonic scalpel. (12658738)
2003
19
Intravitreal triamcinolone for the treatment of idiopathic juxtafoveal telangiectasis. (12652245)
2003
20
Photodynamic therapy of a subretinal neovascular membrane in type 2A idiopathic juxtafoveolar retinal telangiectasis. (11755857)
2002
21
Bilateral idiopathic retinal telangiectasis, progressive neuroradiological abnormalities and ectodermal dysplasia. (11040916)
2000
22
Image of the month. CREST syndrome: calcinosis cutis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis. (9178667)
1997
23
Familial idiopathic juxtafoveolar retinal telangiectasis. (8977798)
1996
24
Gastric telangiectasis: a rare cause of severe blood loss in CREST syndrome. (8183780)
1994
25
Atypical parafoveal telangiectasis with subsequent anterior and posterior segment neovascularization. (1283022)
1992
26
Retinal telangiectasis in scapuloperoneal muscular dystrophy. (1882951)
1991
27
Superficial retinal refractile deposits in juxtafoveal telangiectasis. (2333929)
1990
28
Telangiectasia versus telangiectasis. (3372768)
1988
29
Familial occurrence of congenital pulmonary arteriovenous fistulas in octogenarian siblings without telangiectasis. (3189185)
1988
30
Atypical retinitis proliferans, retinal telangiectasis, and vitreous hemorrhage in a patient with tuberous sclerosis. (3704352)
1986
31
Surgical evacuation of a pontine hematoma due to rupture of a capillary telangiectasis in a young patient--case report. (2430219)
1986
32
DNA-repair synthesis in ataxia telangiectasis lymphoblastoid cells. (6278301)
1981
33
Hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber disease). (7325202)
1981
34
Intestinal telangiectasis in Turner's syndrome. (6971752)
1981
35
Effect of the flavonoid (+)cyanidanol-3 on procollagen biosynthesis and transport in normal and ataxia telangiectasis cultured skin fibroblasts. (6263546)
1981
36
Macular retinal capillary telangiectasis with noncystoid retinal edema. (7328261)
1981
37
Retinal telangiectasis of the macula: a review and differential diagnosis. (7026482)
1981
38
Capillary telangiectasis of the brain in chimpanzee. (592017)
1977
39
Retinal telangiectasis: delayed response to photocoagulation. (1111411)
1975
40
Duodenal telangiectasis in an occult gastrointestinal bleeder. (4648836)
1972
41
Clinicopathologic conference. Multiple telangiectasis. (4675175)
1972
42
NEUROLOGICAL IMPLICATIONS OF HEREDITARY HEMORRHAGIC TELANGIECTASIS. (14243196)
1964
43
ATAXIA TELANGIECTASIS. A DYSGAMMAGLOBULINAEMIA WITH DEFICIENT GAMMA-1-A (BETA-2-A)-GLOBULIN. (14132658)
1964
44
Management of epistaxis in familial haemorrhagic telangiectasis. (13952978)
1963
45
A case of hemorrhagic telangiectasis with hepato-splenomegaly & hereditary thrombopenia (Rendu-Osler disease)]. (13543088)
1958
46
Telangiectasis of the retina and Coats' disease. (13339898)
1956
47
The pathogenesis of telangiectasis in the bovine liver. II. Histopathological and microbiological studies. (14361920)
1955
48
The pathogenesis of telangiectasis in the bovine liver. IV. Discussion and summary. (14361922)
1955
49
Arteriovenous aneurysm of the lung and Osler's hereditary hemorrhagic telangiectasis]. (13060864)
1953
50
Congenital telangiectasis. (21006330)
1945

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
19.9BMPR2, ACVRL1
29.7BMPR2, ACVRL1, ENG
39.4BMPR2, BMP6, ACVRL1
49.3ATM, BMPR2, BAK1
5
Hide members
8.3ACVRL1, SOX18, BMPR2, BAK1, ATM, BMP6

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 beta1449.4BMP6, ACVRL1, ENG
2perillyl alcohol44 2410.3BMP6, BAK1
3doxorubicin44 49 1110.8BMP6, ENG, BAK1, ATM
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
3artery developmentGO:06084010.0ACVRL1, BMPR2
4lymphatic endothelial cell differentiationGO:06083610.0SOX18, BMPR2, ACVRL1
5lymphangiogenesisGO:00194610.0ACVRL1, SOX18, BMPR2
6retina vasculature development in camera-type eyeGO:0612989.9BMPR2, 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:0019379.7ACVRL1, ENG
11positive regulation of endothelial cell differentiationGO:0456039.6BMP6, ACVRL1
12positive regulation of endothelial cell proliferationGO:0019389.6BMP6, ACVRL1, BMPR2
13blood vessel remodelingGO:0019749.5ACVRL1, BAK1, BMPR2
14positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.4BMPR2, ACVRL1, BMP6, ENG
15BMP signaling pathwayGO:0305099.4BMPR2, ENG, BMP6, ACVRL1

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