MCID: TLN003
MIFTS: 41

Telangiectasis malady

Summaries for Telangiectasis

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Wikipedia:63 Telangiectasias /t?l? more...

MalaCards based summary: Telangiectasis, also known as telangiectasia, is related to coats disease and arteriovenous malformation. 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, retina and skin, and related mouse phenotypes are normal and cardiovascular system.

Aliases & Classifications for Telangiectasis

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH
See all sources

Telangiectasis, Aliases & Descriptions:

Name: Telangiectasis 9 11 60
 
Telangiectasia 9 43


External Ids:

Disease Ontology9 DOID:1272
NCIt38 C28194
MeSH33 D013684

Related Diseases for Telangiectasis

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Diseases related to Telangiectasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 391)
idRelated DiseaseScoreTop Affiliating Genes
1coats disease31.2NDP
2arteriovenous malformation30.6ACVRL1
3cerebral arteriovenous malformation30.6ENG, ACVRL1
4angiodysplasia30.6ENG, ACVRL1
5pulmonary hypertension30.5BMP6, ACVRL1
6hereditary hemorrhagic telangiectasia30.2ENG, ACVRL1
7breast cancer29.9ENG, ATM, SOX18, BAK1, BMP6
8systemic scleroderma29.9BMP6, CENPB, ENG
9leukemia29.8BMP6, ATM, BAK1, ENG
10colorectal cancer29.8BAK1, ATM, ENG
11vascular disease29.7ACVRL1, ENG, BMP6
12pancreatic cancer29.7ATM, ENG, ACVRL1
13osteoarthritis29.3ENG, BMP6, CMC1
14melanoma29.2BAK1, ENG, ATM, BMP6
15glioblastoma29.1BMP6, ENG, ATM, BAK1
16hepatocellular carcinoma29.0BAK1, BMP6, ENG, PINX1
17retinitis10.8
18retinal telangiectasia10.5
19klippel-trenaunay-weber syndrome10.5SOX18
20nijmegen breakage syndrome10.5
21ataxia-telangiectasia-like disorder10.5
22telangiectasia, hereditary hemorrhagic, type 410.4
23telangiectasia, hereditary hemorrhagic, type 210.4
24endotheliitis10.4
25ataxia10.4
26telangiectasia, hereditary hemorrhagic, type 110.4
27hypotrichosis-lymphedema-telangiectasia syndrome10.4
28epilepsy telangiectasia10.3
29telangiectasia, hereditary hemorrhagic, type 310.3
30juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.3
31pancreatitis10.2
32arteriovenous fistula10.2
33crest syndrome10.2
34muscular dystrophy10.2
35bloom syndrome10.2
36limited scleroderma10.2
37lymphoblastic leukemia10.2
38cutaneous telangiectasia and cancer syndrome, familial10.2
39telangiectasia, hereditary benign10.2
40lung cancer10.2
41b-cell lymphomas10.2
42neuronitis10.2
43cutaneous mastocytosis10.2
44dystonia10.2
45scleroderma10.2
46weber syndrome10.2
47cerebritis10.2
48idiopathic juxtafoveal retinal telangiectasia10.2
49telangiectasia, hereditary hemorrhagic, type 510.1
50chronic lymphocytic leukemia10.1

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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Drug clinical trials:

Search ClinicalTrials for Telangiectasis

Search NIH Clinical Center for Telangiectasis

Genetic Tests for Telangiectasis

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Anatomical Context for Telangiectasis

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MalaCards organs/tissues related to Telangiectasis:

31
Liver, Retina, Skin, Colon, Eye, Bone, Brain, Spinal cord, Lung, T cells

Animal Models for Telangiectasis or affiliated genes

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MGI Mouse Phenotypes related to Telangiectasis:

35
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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Articles related to Telangiectasis:

(show top 50)    (show all 188)
idTitleAuthorsYear
1
Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. (25892364)
2015
2
Fundus autofluorescence patterns in type 2A idiopathic juxtafoveolar retinal telangiectasis. (21786266)
2012
3
Idiopathic juxtafoveal retinal telangiectasis and retinal macroaneurysm treated with indocyanine green dye-enhanced photocoagulation. (23241941)
2012
4
MRI findings in giant pontine capillary telangiectasis associated with a developmental venous anomaly. (22191296)
2011
5
Clinical features of idiopathic juxtafoveal telangiectasis in Koreans. (21860567)
2011
6
Integrated clinical evaluation of Type 2A idiopathic juxtafoveolar retinal telangiectasis. (19881399)
2010
7
Obliterative idiopathic juxtafoveolar telangiectasis: a 25-year follow-up. (25390131)
2010
8
Early morphological changes and functional abnormalities in group 2A idiopathic juxtafoveolar retinal telangiectasis using spectral domain optical coherence tomography and microperimetry. (18703550)
2008
9
Centripetal retinal capillary proliferation in idiopathic parafoveolar telangiectasis. (18024824)
2007
10
Optical coherence tomography characteristics of group 2A idiopathic parafoveal telangiectasis. (18046227)
2007
11
Optical coherence tomography findings in idiopathic juxtafoveal retinal telangiectasis. (17120013)
2007
12
Optical coherence tomography in group 2A idiopathic juxtafoveolar retinal telangiectasis. (17030708)
2006
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
Parafoveal retinal telangiectasis: light and electron microscopy studies. 1977. (16049361)
2005
16
Optical coherence tomography in group 2A idiopathic juxtafoveolar telangiectasis. (16355952)
2005
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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Search GEO for disease gene expression data for Telangiectasis.

Pathways for genes affiliated with Telangiectasis

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Pathways related to Telangiectasis according to GeneCards Suite gene sharing:

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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Compounds related to Telangiectasis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1perillyl alcohol43 2410.6BAK1, BMP6
2losartan43 49 28 1212.6BMP6, ATM
3tgf beta1439.4ACVRL1, BMP6, ENG
4paraffin439.1ATM, BAK1, ENG
5threonine439.0ATM, ACVRL1, BMP6, ENG
6oligonucleotide438.9ENG, BMP6, ACVRL1, CENPB
7doxorubicin43 49 1210.9ENG, BAK1, BMP6, ATM
8cisplatin43 49 59 1211.8BAK1, BMP6, ATM
9estrogen438.7ENG, BAK1, BMP6, ATM

GO Terms for genes affiliated with Telangiectasis

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Cellular components related to Telangiectasis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.5NDP, ENG, ACVRL1
2chromosome, telomeric regionGO:00007819.0ATM, PINX1

Biological processes related to Telangiectasis according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1lymphatic endothelial cell differentiationGO:006083610.1SOX18, ACVRL1
2lymphangiogenesisGO:000194610.1ACVRL1, SOX18
3positive regulation of BMP signaling pathwayGO:003051310.0ENG, ACVRL1
4negative regulation of endothelial cell proliferationGO:000193710.0ACVRL1, ENG
5heart loopingGO:00019479.9ENG, SOX18
6positive regulation of endothelial cell differentiationGO:00456039.9BMP6, ACVRL1
7positive regulation of chondrocyte differentiationGO:00323329.9ACVRL1, BMP6
8negative regulation of cell migrationGO:00303369.8ENG, ACVRL1
9blood vessel remodelingGO:00019749.8ACVRL1, BAK1
10vasculogenesisGO:00015709.7SOX18, ENG
11intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.6ATM, BAK1
12positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6ENG, BMP6, ACVRL1
13BMP signaling pathwayGO:00305099.6ACVRL1, BMP6, ENG
14cellular response to mechanical stimulusGO:00712609.4ENG, BAK1, BMP6
15positive regulation of endothelial cell proliferationGO:00019389.3BMP6, ACVRL1
16positive regulation of transcription from RNA polymerase II promoterGO:00459449.2ENG, BMP6, ACVRL1, SOX18
17negative regulation of cell proliferationGO:00082858.8BAK1, ACVRL1, PINX1

Molecular functions related to Telangiectasis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta bindingGO:00504319.8ENG, ACVRL1
2activin bindingGO:00481859.7ENG, ACVRL1
3transforming growth factor beta-activated receptor activityGO:00050249.5ENG, ACVRL1

Products for genes affiliated with Telangiectasis

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Telangiectasis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet