MCID: TLN003
MIFTS: 49

Telangiectasis malady

Cardiovascular diseases category

Summaries for Telangiectasis

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66Wikipedia, 34MalaCards
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Wikipedia:66 Telangiectasias /t?l? more...

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

Aliases & Classifications for Telangiectasis

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9Disease Ontology, 11DISEASES, 63UMLS, 46Novoseek, 41NCIt, 59SNOMED-CT, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

telangiectasis 9 11 63
telangiectasia 9 46


External Ids:

Disease Ontology9 DOID:1272
NCIt41 C28194
MeSH36 D013684

Related Diseases for Telangiectasis

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18GeneCards, 19GeneDecks
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Diseases related to Telangiectasis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 388)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary hemorrhagic telangiectasia31.8ACVRL1, ENG
2coats disease30.6NDP
3breast cancer30.5ATM, SOX18, BMP6, BAK1, ENG
4leukemia30.4ENG, BAK1, BMP6, ATM
5angiodysplasia30.3ENG, ACVRL1
6systemic scleroderma30.1ENG, BMP6, CENPB
7arteriovenous malformation30.0ACVRL1
8colorectal cancer30.0ATM, BAK1, ENG
9colon cancer30.0ATM, BMP6, BAK1, ENG
10primary pulmonary hypertension29.9BMP6, ACVRL1
11klippel-trenaunay syndrome29.8SOX18
12vascular disease29.8ACVRL1, BMP6, ENG
13melanoma29.7ENG, BAK1, BMP6, ATM
14glioblastoma multiforme29.5ATM, BMP6, BAK1, ENG
15hepatocellular carcinoma29.5PINX1, BMP6, BAK1, ENG
16retinitis10.8
17retinal telangiectasia10.5
18nijmegen breakage syndrome10.5
19generalized essential telangiectasia10.5
20hypertension10.5
21ataxia10.4
22hereditary hemorrhagic telangiectasia type 210.4
23endotheliitis10.4
24epilepsy telangiectasia10.3
25hereditary hemorrhagic telangiectasia type 310.3
26hypotrichosis-lymphedema-telangiectasia syndrome10.3
27limited scleroderma10.2
28pancreatitis10.2
29arteriovenous fistula10.2
30juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.2
31bloom syndrome10.2
32neuronitis10.2
33cutaneous mastocytosis10.2
34lung cancer10.2
35lymphoblastic leukemia10.2
36b-cell lymphomas10.2
37early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.2
38hereditary hemorrhagic telangiectasia type 410.2
39weber syndrome10.2
40cerebritis10.2
41muscular dystrophy10.2
42idiopathic juxtafoveal retinal telangiectasia10.2
43glomerulonephritis - sparse hair - telangiectasis10.2
44dystonia10.1
45scleroderma10.1
46mastocytosis10.1
47tempi syndrome10.1
48dysgerminoma10.1
49rosacea10.1
50xeroderma pigmentosum10.1

Graphical network of the top 20 diseases related to Telangiectasis:



Diseases related to telangiectasis

Symptoms for Telangiectasis

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Drugs & Therapeutics for Telangiectasis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Telangiectasis

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Genetic Tests for Telangiectasis

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Anatomical Context for Telangiectasis

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34MalaCards
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MalaCards organs/tissues related to Telangiectasis:

34
Liver, Skin, Retina, Colon, Lung, Eye, Spinal cord, Brain, Bone, T cells

Animal Models for Telangiectasis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Telangiectasis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4SOX18, CENPB, ACVRL1, BAK1, ENG
2MP:00053858.4NDP, ENG, ACVRL1, SOX18, PINX1
3MP:00053898.0ATM, CENPB, BMP6, BAK1, NDP
4MP:00053787.4ENG, PINX1, ATM, SOX18, CENPB, ACVRL1
5MP:00107687.3PINX1, ATM, SOX18, CENPB, ACVRL1, BAK1

Publications for Telangiectasis

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53PubMed
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Articles related to Telangiectasis:

(show top 50)    (show all 188)
idTitleAuthorsYear
1
Fundus autofluorescence patterns in type 2A idiopathic juxtafoveolar retinal telangiectasis. (21786266)
2012
2
Idiopathic juxtafoveal retinal telangiectasis and retinal macroaneurysm treated with indocyanine green dye-enhanced photocoagulation. (23241941)
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
Integrated clinical evaluation of Type 2A idiopathic juxtafoveolar retinal telangiectasis. (19881399)
2010
6
Early morphological changes and functional abnormalities in group 2A idiopathic juxtafoveolar retinal telangiectasis using spectral domain optical coherence tomography and microperimetry. (18703550)
2008
7
Centripetal retinal capillary proliferation in idiopathic parafoveolar telangiectasis. (18024824)
2007
8
Optical coherence tomography characteristics of group 2A idiopathic parafoveal telangiectasis. (18046227)
2007
9
Optical coherence tomography findings in idiopathic juxtafoveal retinal telangiectasis. (17120013)
2007
10
Optical coherence tomography in group 2A idiopathic juxtafoveolar retinal telangiectasis. (17030708)
2006
11
Idiopathic juxtafoveal retinal telangiectasis: new findings by ultrahigh-resolution optical coherence tomography. (16343625)
2006
12
A clue for telangiectasis in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. (16902284)
2006
13
RPE atrophy following photodynamic therapy in type 2A idiopathic parafoveal telangiectasis. (15829751)
2005
14
Parafoveal retinal telangiectasis: light and electron microscopy studies. 1977. (16049361)
2005
15
Optical coherence tomography in group 2A idiopathic juxtafoveolar telangiectasis. (16355952)
2005
16
Transpupillary thermotherapy for subfoveal neovascularization secondary to group 2A idiopathic juxtafoveolar telangiectasis. (15234300)
2004
17
Photodynamic therapy of subfoveal neovascular membrane in type 2A idiopathic juxtafoveolar retinal telangiectasis. (15126144)
2004
18
Hereditary hemorrhagic telangiectasis treated by the harmonic scalpel. (12658738)
2003
19
Bilateral idiopathic retinal telangiectasis, progressive neuroradiological abnormalities and ectodermal dysplasia. (11040916)
2000
20
Retinal telangiectasis and angioid streaks. (11203177)
2000
21
Idiopathic juxtafoveolar retinal telangiectasis and pigment epithelial hyperplasia: an optical coherence tomographic study. (10088825)
1999
22
Laser photocoagulation and glucose metabolism in idiopathic juxtafoveolar retinal telangiectasis. (9507256)
1998
23
Image of the month. CREST syndrome: calcinosis cutis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis. (9178667)
1997
24
Retinal telangiectasis and proliferation of the retinal vessels in a family. (8272343)
1993
25
Idiopathic juxtafoveolar retinal telangiectasis. Update of classification and follow-up study. (8414413)
1993
26
Hereditary hemorrhagic telangiectasis involving the ampulla of Vater presented with recurrent gastrointestinal bleeding. (8317416)
1993
27
Severe visual loss associated with retinal telangiectasis and facioscapulohumeral muscular dystrophy. (1505769)
1992
28
Atypical parafoveal telangiectasis with subsequent anterior and posterior segment neovascularization. (1283022)
1992
29
Hybrid T cell receptor genes formed by interlocus recombination in normal and ataxia-telangiectasis lymphocytes. (1695665)
1990
30
Telangiectasia versus telangiectasis. (3372768)
1988
31
Familial occurrence of congenital pulmonary arteriovenous fistulas in octogenarian siblings without telangiectasis. (3189185)
1988
32
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
33
Paramacular telangiectasis. (3477896)
1986
34
Pulmonary arteriovenous fistula with hereditary hemorrhagic telangiectasis. (7169478)
1982
35
In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. (7104995)
1982
36
Retinal telangiectasis: delayed response to photocoagulation. (1111411)
1975
37
Duodenal telangiectasis in an occult gastrointestinal bleeder. (4648836)
1972
38
NEUROLOGICAL IMPLICATIONS OF HEREDITARY HEMORRHAGIC TELANGIECTASIS. (14243196)
1964
39
Ataxia-telangiectasis: report of a case. (13889748)
1962
40
Treatment of thrombosis occurring in individuals with hereditary hemorrhagic telangiectasis; report of three cases including two members of one family. (13292786)
1956
41
The pathogenesis of telangiectasis in the bovine liver. I. The incidence of Telangiectasis. (13228863)
1955
42
The pathogenesis of telangiectasis in the bovine liver. III. Experimental telangiectasis. (14361921)
1955
43
Pulmonary arteriovenous fistula associated with hereditary hemorrhagic telangiectasis; a report of their occurrence in a father and son. (13031424)
1953
44
Arteriovenous aneurysm of the lung and Osler's hereditary hemorrhagic telangiectasis]. (13060864)
1953
45
Hemorrhagic telangiectasis: case report. (13053631)
1953
46
Rutin used in the oral surgery of a patient with hereditary hemorrhagic telangiectasis. (15397357)
1950
47
Hereditary hemorrhagic telangiectasis treated with rutin. (18098632)
1948
48
Experimentally developed telangiectasis and sawdust liver lesions in rats. (18863408)
1948
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

Variations for Telangiectasis

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Expression for genes affiliated with Telangiectasis

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2BioGPS, 16Gene 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

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51PathCards, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Telangiectasis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6BMP6, ACVRL1
29.3ATM, PINX1
3
Show member pathways
8.4BAK1, BMP6, ACVRL1, SOX18, ATM

Compounds for genes affiliated with Telangiectasis

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46Novoseek, 25HMDB, 52PharmGKB, 30IUPHAR, 12DrugBank, 62Tocris Bioscience
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Compounds related to Telangiectasis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1perillyl alcohol46 2510.6BAK1, BMP6
2losartan46 52 30 1212.6BMP6, ATM
3tgf beta1469.4ACVRL1, BMP6, ENG
4paraffin469.1ATM, BAK1, ENG
5threonine469.0ATM, ACVRL1, BMP6, ENG
6oligonucleotide468.9ENG, BMP6, ACVRL1, CENPB
7doxorubicin46 52 1210.9ENG, BAK1, BMP6, ATM
8cisplatin46 52 62 1211.8BAK1, BMP6, ATM
9estrogen468.7ENG, BAK1, BMP6, ATM

GO Terms for genes affiliated with Telangiectasis

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17Gene Ontology
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Cellular components related to Telangiectasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.5NDP, ENG, ACVRL1
2chromosome, telomeric regionGO:0007819.0ATM, PINX1

Biological processes related to Telangiectasis according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1lymphatic endothelial cell differentiationGO:06083610.1ACVRL1, SOX18
2lymphangiogenesisGO:00194610.1SOX18, ACVRL1
3positive regulation of BMP signaling pathwayGO:03051310.0ENG, ACVRL1
4negative regulation of endothelial cell proliferationGO:00193710.0ACVRL1, ENG
5heart loopingGO:0019479.9SOX18, ENG
6positive regulation of endothelial cell differentiationGO:0456039.9ACVRL1, BMP6
7positive regulation of chondrocyte differentiationGO:0323329.9BMP6, ACVRL1
8negative regulation of cell migrationGO:0303369.8ACVRL1, ENG
9blood vessel remodelingGO:0019749.8BAK1, ACVRL1
10vasculogenesisGO:0015709.7ENG, SOX18
11intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.6ATM, BAK1
12positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.6ENG, ACVRL1, BMP6
13BMP signaling pathwayGO:0305099.6ACVRL1, BMP6, ENG
14cellular response to mechanical stimulusGO:0712609.4BMP6, BAK1, ENG
15positive regulation of endothelial cell proliferationGO:0019389.3ACVRL1, BMP6
16positive regulation of transcription from RNA polymerase II promoterGO:0459449.2ENG, BMP6, SOX18, ACVRL1
17negative regulation of cell proliferationGO:0082858.8BAK1, ACVRL1, PINX1

Molecular functions related to Telangiectasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta bindingGO:0504319.8ENG, ACVRL1
2activin bindingGO:0481859.7ENG, ACVRL1
3transforming growth factor beta-activated receptor activityGO:0050249.5ENG, ACVRL1

Products for genes affiliated with Telangiectasis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Telangiectasis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet