MCID: TLN003
MIFTS: 46

Telangiectasis malady

Summaries for Telangiectasis

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 angiodysplasia. 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 brain, retina and spinal cord, and related mouse phenotypes are normal and cardiovascular system.

Aliases & Classifications for Telangiectasis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH
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Aliases & Descriptions:

telangiectasis 8 10 61
telangiectasia 8 45


External Ids:

Disease Ontology8 DOID:1272
NCIt40 C28194
MeSH35 D013684

Related Diseases for Telangiectasis

Sources:
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 329)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary hemorrhagic telangiectasia31.7BMPR2, ACVRL1, ENG
2angiodysplasia30.1ACVRL1, ENG
3systemic scleroderma30.0CENPB, BMP6, ENG
4vascular disease29.8ACVRL1, SOX18
5arteriovenous malformation29.8ACVRL1, ENG
6primary pulmonary hypertension29.8ACVRL1, BMP6, BMPR2
7klippel-trenaunay syndrome29.6SOX18
8cerebroretinal microangiopathy with calcifications and cysts29.6NDP
9atherosclerosis29.6ACVRL1, APLN, SOX18, BMP6
10nijmegen breakage syndrome10.5
11n syndrome10.5
12generalized essential telangiectasia10.4
13ataxia-telangiectasia variant10.4
14ataxia10.4
15epilepsy telangiectasia10.3
16hereditary hemorrhagic telangiectasia type 210.3
17hypotrichosis-lymphedema-telangiectasia syndrome10.3
18t-cell leukemia10.3
19hereditary hemorrhagic telangiectasia type 310.3
20juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.3
21coats disease10.3
22limited scleroderma10.2
23acute leukemia10.2
24weber syndrome10.2
25idiopathic edema10.2
26juvenile polyposis syndrome10.2
27early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.2
28hereditary hemorrhagic telangiectasia type 410.2
29glomerulonephritis - sparse hair - telangiectasis10.2
30fanconi's anemia10.1
31squamous cell carcinoma10.1
32mastocytosis10.1
33tempi syndrome10.1
34stroke, hemorrhagic10.1
35dysgerminoma10.1
36hepatitis c10.1
37rosacea10.1
38xeroderma pigmentosum10.1
39werner syndrome10.1
40fanconi syndrome10.1
41hepatitis a10.1
42ataxia telangiectasia variant v110.1
43protein r deficiency10.1
44retinal telangiectasia hypogammaglobulinemia10.1
45telangiectasia, hereditary benign10.1
46pulmonary function10.1
47facioscapulohumeral muscular dystrophy10.1
48idiopathic juxtafoveal retinal telangiectasia10.1
49deficiency anemia10.0
50portal hypertension10.0

Graphical network of the top 20 diseases related to Telangiectasis:



Diseases related to telangiectasis

Clinical Features for Telangiectasis

Drugs & Therapeutics for Telangiectasis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Telangiectasis

Sources:
33MalaCards
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MalaCards organs/tissues related to Telangiectasis:

33
Brain, Retina, Spinal cord, Colon, Liver, Lung, Skin, T cells

Animal Models for Telangiectasis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Telangiectasis:

37
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

Sources:
51PubMed
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Articles related to Telangiectasis:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
Occlusive idiopathic juxtafoveolar retinal telangiectasis type 4. (23769792)
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
Integrated clinical evaluation of Type 2A idiopathic juxtafoveolar retinal telangiectasis. (19881399)
2010
5
Intravitreal triamcinolone for management of idiopathic juxtafoveolar telangiectasis. (20606875)
2010
6
Resolution of macular edema in idiopathic juxtafoveal telangiectasis using PDT. (19205501)
2009
7
Fatal rupture of pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasis and severe PAH. (20956122)
2009
8
Macular edema associated with latanoprost use in a patient with idiopathic juxtafoveal retinal telangiectasis. (18369705)
2008
9
Intravitreal pegaptanib reduces fluorescein leakage in idiopathic parafoveal telangiectasis. (18711476)
2008
10
Intravitreal bevacizumab compared with photodynamic therapy with verteporfin for group 2a parafoveal retinal telangiectasis. (18711474)
2008
11
Re: Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis. (18301049)
2008
12
Centripetal retinal capillary proliferation in idiopathic parafoveolar telangiectasis. (18024824)
2007
13
Idiopathic juxtafoveal retinal telangiectasis: new findings by ultrahigh-resolution optical coherence tomography. (16343625)
2006
14
RPE atrophy following photodynamic therapy in type 2A idiopathic parafoveal telangiectasis. (15829751)
2005
15
Treatment of CNVM secondary to idiopathic juxtafoveal retinal telangiectasis by transpupillary thermotherapy. (15767092)
2005
16
Photodynamic therapy of subfoveal neovascular membrane in type 2A idiopathic juxtafoveolar retinal telangiectasis. (15126144)
2004
17
Hereditary hemorrhagic telangiectasis treated by the harmonic scalpel. (12658738)
2003
18
Photodynamic therapy of a subretinal neovascular membrane in type 2A idiopathic juxtafoveolar retinal telangiectasis. (11755857)
2002
19
Idiopathic parafoveal telangiectasis associated with a foveal pseudovitelliform lesion. (12446400)
2002
20
Familial spastic paraplegia and maculopathy with juxtafoveolar retinal telangiectasis and subretinal neovascularization. (10783952)
2000
21
Histopathologic study of presumed parafoveal telangiectasis. (10458300)
1999
22
Image of the month. CREST syndrome: calcinosis cutis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis. (9178667)
1997
23
Surgical removal of subfoveal neovascularization in idiopathic juxtafoveolar retinal telangiectasis. (9143035)
1997
24
Bilateral subretinal neovascular membrane in idiopathic juxtafoveolar telangiectasis. (8865399)
1996
25
Cystoid macular edema secondary to juxtafoveolar telangiectasis in Coats' disease. (2057186)
1991
26
Superficial retinal refractile deposits in juxtafoveal telangiectasis. (2333929)
1990
27
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
28
Parafoveal telangiectasis and diabetic retinopathy. (3729786)
1986
29
Cavernous hemangioma of the retina and retinal telangiectasis. Distinct or related vascular malformations? (3835616)
1985
30
An unusual brainstem capillary telangiectasis in a child. (6627776)
1983
31
In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. (7104995)
1982
32
Effect of the flavonoid (+)cyanidanol-3 on procollagen biosynthesis and transport in normal and ataxia telangiectasis cultured skin fibroblasts. (6263546)
1981
33
Parafoveal retinal telangiectasis. Light and electron microscopy studies. (6943823)
1980
34
Focal parafoveal retinal telangiectasis. (678172)
1978
35
Capillary telangiectasis of the brain in chimpanzee. (592017)
1977
36
Duodenal telangiectasis in an occult gastrointestinal bleeder. (4648836)
1972
37
Neurological manifestations of hereditary haemorrhagic telangiectasis. (5470119)
1970
38
A fluorescein angiographic study of macular dysfunction secondary to retinal vascular disease. V. Retinal telangiectasis. (5684308)
1968
39
NEUROLOGICAL IMPLICATIONS OF HEREDITARY HEMORRHAGIC TELANGIECTASIS. (14243196)
1964
40
I. CRYOPROTEINEMIAS. 2. PRIMARY CRYOFIBRINOGENEMIA--ITS ASSOCIATION WITH CRYOPATHY AND TELANGIECTASIS. (14087158)
1963
41
Pulmonary telangiectasis. (13625232)
1958
42
A case of balanitis xerotica obliterans with telangiectasis responding to intravenous procaine. (14382189)
1955
43
Hereditary hemorrhagic telangiectasis with involvement of bone. (13238665)
1955
44
The pathogenesis of telangiectasis in the bovine liver. II. Histopathological and microbiological studies. (14361920)
1955
45
Hemorrhagic telangiectasis of the gastrointestinal tract; an obscure source of gastrointestinal bleeding. (13207689)
1954
46
Hereditary hemorrhagic telangiectasis. (13098189)
1953
47
Histochemical methods in the study of telangiectasis. (12976634)
1952
48
CLINICAL conference: massive hematemesis; possible telangiectasis. (14881031)
1951
49
Multiple hemorrhagic telangiectasis (Rendu-Osler-Weber disease); report of 4 cases. (21019389)
1946
50
Case of Large Lymphangioma or Telangiectasis occupying the Lower Half of Left Abdomen and Left Leg. (19984860)
1926

Genetic Variations for Telangiectasis

Expression for genes affiliated with Telangiectasis

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

Search GEO for disease gene expression data for Telangiectasis.

Pathways for genes affiliated with Telangiectasis

Sources:
38NCBI BioSystems Database, 56SinoBiological, 52QIAGEN
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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

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
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Compounds related to Telangiectasis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tgf beta1459.4BMP6, ACVRL1, ENG
2perillyl alcohol45 2410.3BMP6, BAK1
3doxorubicin45 50 1110.8BMP6, ENG, BAK1, ATM
4threonine458.5BMPR2, BMP6, ATM, ACVRL1, ENG
5nitric oxide45 11 2410.2APLN, BMPR2, BMP6, ATM, BAK1

GO Terms for genes affiliated with Telangiectasis

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Telangiectasis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet