MCID: TLN003
MIFTS: 49

Telangiectasis malady

Cardiovascular diseases category
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Summaries for Telangiectasis

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Wikipedia:65 Telangiectasias /t?l? more...

MalaCards based summary: Telangiectasis, also known as telangiectasia, is related to coats disease and telangiectasia, hereditary hemorrhagic, type 5. 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:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt
See all sources

Telangiectasis, Aliases & Descriptions:

Name: Telangiectasis 8 10 62
 
Telangiectasia 8 44


Classifications:

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


External Ids:

Disease Ontology8 DOID:1272
MeSH34 D013684
NCIt39 C28194

Related Diseases for Telangiectasis

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

(show top 50)    (show all 398)
idRelated DiseaseScoreTop Affiliating Genes
1coats disease31.3NDP
2telangiectasia, hereditary hemorrhagic, type 530.9ACVRL1, ENG
3arteriovenous malformation30.6ACVRL1
4angiodysplasia30.6ENG, ACVRL1
5klippel-trenaunay syndrome30.4SOX18
6primary pulmonary hypertension30.0BMP6, ACVRL1
7breast cancer29.9ATM, SOX18, BMP6, BAK1, ENG
8leukemia29.8ENG, BAK1, BMP6, ATM
9colorectal cancer29.8ATM, BAK1, ENG
10systemic scleroderma29.7ENG, BMP6, CENPB
11vascular disease29.7ACVRL1, BMP6, ENG
12melanoma29.2ENG, BAK1, BMP6, ATM
13glioblastoma29.1ATM, BMP6, BAK1, ENG
14hereditary hemorrhagic telangiectasia11.2
15retinitis10.8
16retinal telangiectasia10.5
17nijmegen breakage syndrome10.5
18hypertension10.5
19generalized essential telangiectasia10.5
20ataxia10.4
21hereditary hemorrhagic telangiectasia type 210.4
22endotheliitis10.4
23epilepsy telangiectasia10.3
24hereditary hemorrhagic telangiectasia type 310.3
25hypotrichosis-lymphedema-telangiectasia syndrome10.3
26pulmonary hypertension10.3
27ataxia-telangiectasia variant10.3
28pancreatitis10.2
29juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.2
30intracranial hemorrhage in brain cerebrovascular malformations10.2ACVRL1, ENG
31crest syndrome10.2
32muscular dystrophy10.2
33acute lymphoblastic leukemia10.2
34lymphoblastic leukemia10.2
35early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.2
36b-cell lymphomas10.2
37bloom syndrome10.2
38limited scleroderma10.2
39neuronitis10.2
40lung cancer10.2
41hereditary hemorrhagic telangiectasia type 410.2
42weber syndrome10.2
43arteriovenous fistula10.2
44facioscapulohumeral muscular dystrophy10.2
45cerebritis10.2
46idiopathic juxtafoveal retinal telangiectasia10.2
47glomerulonephritis - sparse hair - telangiectasis10.2
48gastric cancer10.1
49lymphedema10.1
50cutaneous mastocytosis10.1

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:

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Genetic Tests for Telangiectasis

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Anatomical Context for Telangiectasis

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MalaCards organs/tissues related to Telangiectasis:

32
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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4ENG, BAK1, ACVRL1, CENPB, SOX18
2MP:00053858.4PINX1, NDP, ENG, SOX18, ACVRL1
3MP:00053898.0ATM, BAK1, NDP, BMP6, CENPB
4MP:00053787.4BMP6, ENG, ACVRL1, CENPB, SOX18, ATM
5MP:00107687.3PINX1, ATM, SOX18, CENPB, ACVRL1, BAK1

Publications for Telangiectasis

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Articles related to Telangiectasis:

(show top 50)    (show all 190)
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
Obliterative idiopathic juxtafoveolar telangiectasis: a 25-year follow-up. (25390131)
2010
7
Early morphological changes and functional abnormalities in group 2A idiopathic juxtafoveolar retinal telangiectasis using spectral domain optical coherence tomography and microperimetry. (18703550)
2008
8
Macular edema associated with latanoprost use in a patient with idiopathic juxtafoveal retinal telangiectasis. (18369705)
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
A clue for telangiectasis in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. (16902284)
2006
15
RPE atrophy following photodynamic therapy in type 2A idiopathic parafoveal telangiectasis. (15829751)
2005
16
Optical coherence tomography in group 2A idiopathic juxtafoveolar telangiectasis. (16355952)
2005
17
Transpupillary thermotherapy for subfoveal neovascularization secondary to group 2A idiopathic juxtafoveolar telangiectasis. (15234300)
2004
18
Photodynamic therapy of subfoveal neovascular membrane in type 2A idiopathic juxtafoveolar retinal telangiectasis. (15126144)
2004
19
Hereditary hemorrhagic telangiectasis treated by the harmonic scalpel. (12658738)
2003
20
Bilateral idiopathic retinal telangiectasis, progressive neuroradiological abnormalities and ectodermal dysplasia. (11040916)
2000
21
Retinal telangiectasis and angioid streaks. (11203177)
2000
22
Idiopathic juxtafoveolar retinal telangiectasis and pigment epithelial hyperplasia: an optical coherence tomographic study. (10088825)
1999
23
Laser photocoagulation and glucose metabolism in idiopathic juxtafoveolar retinal telangiectasis. (9507256)
1998
24
Image of the month. CREST syndrome: calcinosis cutis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis. (9178667)
1997
25
Retinal telangiectasis and proliferation of the retinal vessels in a family. (8272343)
1993
26
Idiopathic juxtafoveolar retinal telangiectasis. Update of classification and follow-up study. (8414413)
1993
27
Hereditary hemorrhagic telangiectasis involving the ampulla of Vater presented with recurrent gastrointestinal bleeding. (8317416)
1993
28
Severe visual loss associated with retinal telangiectasis and facioscapulohumeral muscular dystrophy. (1505769)
1992
29
Atypical parafoveal telangiectasis with subsequent anterior and posterior segment neovascularization. (1283022)
1992
30
Hybrid T cell receptor genes formed by interlocus recombination in normal and ataxia-telangiectasis lymphocytes. (1695665)
1990
31
Telangiectasia versus telangiectasis. (3372768)
1988
32
Familial occurrence of congenital pulmonary arteriovenous fistulas in octogenarian siblings without telangiectasis. (3189185)
1988
33
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
34
Paramacular telangiectasis. (3477896)
1986
35
Pulmonary arteriovenous fistula with hereditary hemorrhagic telangiectasis. (7169478)
1982
36
In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. (7104995)
1982
37
Retinal telangiectasis: delayed response to photocoagulation. (1111411)
1975
38
Duodenal telangiectasis in an occult gastrointestinal bleeder. (4648836)
1972
39
NEUROLOGICAL IMPLICATIONS OF HEREDITARY HEMORRHAGIC TELANGIECTASIS. (14243196)
1964
40
Ataxia-telangiectasis: report of a case. (13889748)
1962
41
Treatment of thrombosis occurring in individuals with hereditary hemorrhagic telangiectasis; report of three cases including two members of one family. (13292786)
1956
42
The pathogenesis of telangiectasis in the bovine liver. I. The incidence of Telangiectasis. (13228863)
1955
43
The pathogenesis of telangiectasis in the bovine liver. III. Experimental telangiectasis. (14361921)
1955
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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Expression patterns in normal tissues for genes affiliated with Telangiectasis

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Pathways for genes affiliated with Telangiectasis

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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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Compounds related to Telangiectasis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1perillyl alcohol44 2410.6BAK1, BMP6
2losartan44 50 28 1112.6BMP6, ATM
3tgf beta1449.4ENG, BMP6, ACVRL1
4paraffin449.1ATM, BAK1, ENG
5threonine449.0ATM, ACVRL1, BMP6, ENG
6oligonucleotide448.9ENG, BMP6, CENPB, ACVRL1
7doxorubicin44 50 1110.9BMP6, ATM, BAK1, ENG
8cisplatin44 50 61 1111.8BAK1, ATM, BMP6
9estrogen448.7BAK1, ENG, ATM, BMP6

GO Terms for genes affiliated with Telangiectasis

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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:06083610.1SOX18, ACVRL1
2lymphangiogenesisGO:00194610.1ACVRL1, SOX18
3positive regulation of BMP signaling pathwayGO:03051310.0ENG, ACVRL1
4negative regulation of endothelial cell proliferationGO:00193710.0ACVRL1, ENG
5heart loopingGO:0019479.9ENG, SOX18
6positive regulation of endothelial cell differentiationGO:0456039.9BMP6, ACVRL1
7positive regulation of chondrocyte differentiationGO:0323329.9ACVRL1, BMP6
8negative regulation of cell migrationGO:0303369.8ENG, ACVRL1
9blood vessel remodelingGO:0019749.8ACVRL1, BAK1
10vasculogenesisGO:0015709.7SOX18, ENG
11intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.6ATM, BAK1
12positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.6ENG, BMP6, ACVRL1
13BMP signaling pathwayGO:0305099.6ACVRL1, BMP6, ENG
14cellular response to mechanical stimulusGO:0712609.4ENG, BAK1, BMP6
15positive regulation of endothelial cell proliferationGO:0019389.3BMP6, ACVRL1
16positive regulation of transcription from RNA polymerase II promoterGO:0459449.2ENG, BMP6, ACVRL1, SOX18
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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet