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MCID: HRD008

Hereditary Hemorrhagic Telangiectasia malady
31 genes, 7 tissues, 401 related diseases, 22 phenotypes, 78 articles, clinical trials, genetic tests.

Summaries for Hereditary Hemorrhagic Telangiectasia

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17Genetics Home Reference, 30NIH Rare Diseases, 44Wikipedia, 33OMIM, 15GeneReviews, 22MalaCards
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NIH Rare Diseases: Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with this condition can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. If they are on the skin, they are called telangiectasias. The AVMs can also develop in other parts of the body, such as the brain, lungs, liver, or intestines. HHT is caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There is no cure for HHT. Treatment is symptomatic and supportive, with a focus on controlling bleeding, either through surgery or medication.30

MalaCards: Hereditary Hemorrhagic Telangiectasia, also known as HHT, is related to hereditary hemorrhagic telangiectasia type 2 and arteriovenous malformation. An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (endoglin), and among its related pathways are Actin-Based Motility by Rho Family GTPases and Telomerase Components in Cell Signaling. The compounds citrate and hirudin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and lung, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Genetics Home Reference: Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.17

Wikipedia: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and...44 more...

OMIM: 187300

GeneReviews summary for hht

Aliases & Descriptions for Hereditary Hemorrhagic Telangiectasia

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6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 43UMLS, 33OMIM, 32Novoseek , 19ICD9CM, 40SNOMED-CT, 24MeSH, 27NCIt
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Aliases & Descriptions:

hereditary hemorrhagic telangiectasia 6 7 44 15 30 16 17 8 43
hht 15 30 16 17
osler-weber-rendu disease 6 44 15
osler-rendu-weber disease 30 16 17
osler hemorrhagic telangiectasia syndrome (disorder) 6 16
telangiectasia, hereditary hemorrhagic, type 1 33
telangiectasia hereditary hemorrhagic type 1 30
hereditary hemorrhagic telangiectasia type 1 30
telangiectasia hereditary hemorrhagic 32
osler weber rendu syndrome type 1 30
osler weber rendu syndrome 30
rendu-osler-weber disease 6
osler-rendu disease 17
rendu-osler-weber 17
osler's disease 17
telangiectasis 43
weber-osler 17
orw disease 30
hht1 30
orw1 30

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ICD9CM19 448.0

Related Diseases for Hereditary Hemorrhagic Telangiectasia

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13GeneCards, 14GeneDecks
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Diseases related to hereditary hemorrhagic telangiectasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 398)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary hemorrhagic telangiectasia type 235.0ENG, ACVRL1
2arteriovenous malformation32.3ENG, ACVRL1
3telangiectasis32.2BMP6, BMPR2, ENG, ACVRL1, OR2AG1
4von willebrand's disease30.9VWF, F5, F3
5weber syndrome30.7VEGFA, ENG, ACVRL1
6pulmonary hypertension29.7BMPR1A, BMPR2, NOS3, ACVRL1, TGFBR2
7antiphospholipid syndrome29.0VWF, VEGFA, F5, F3
8thromboembolism27.1VWF, F5, F3, NOS3
9hypertension23.4VWF, VEGFA, BMP10, BMP6, BMPR1A, BMPR2
10hepatitis23.1VWF, VEGFA, BMP10, BMP6, IL8, ENG
11colorectal cancer21.7VWF, VEGFA, BMP6, BMPR1A, BMPR2, INHBE
12retinitis19.9VWF, VEGFA, BMP6, BMPR2, IL8, ANGPT2
13leukemia19.2VWF, VEGFA, BMP6, BMPR2, IL8, ENG
14juvenile polyposis syndrome13.6BMPR1A, SMAD4
15fibrodysplasia ossificans progressiva13.4BMPR1A, INHBE, SMAD1
16sagittal sinus thrombosis13.3F5, F3
17marfan-like connective tissue disorder13.3TGFBR1, TGFBR2
18cecum cancer13.2BMP6, TGFBR2
19factor xii deficiency13.2F5, F3
20neovascular glaucoma13.2VEGFA, TGFB2
21corneal disease13.2SP1, TGFB2, TGFBI
22intraocular melanoma13.1ENG, SMAD4, TGFB2
23thoracic aortic aneurysms and aortic dissections13.1TGFBR1, TGFBR2
24gastroschisis13.1BMP6, F5, NOS3
25macular holes13.1VEGFA, ANGPT2, TGFB2
26loeys-dietz syndrome13.1TGFBI, TGFBR1, TGFBR2
27thoracic aortic aneurysm13.0BMP6, TGFBR1, TGFBR2
28priapism13.0F5, NOS3, TGFBR3
29venous insufficiency13.0F5, F3, PDGFRA
30ocular melanoma12.9VEGFA, BMP6, PDGFRA
31hemifacial spasm12.9VEGFA, NOS3
32intracranial thrombosis12.9VWF, F5, F3
33factor xi deficiency12.9VWF, F5, F3
34placental abruption12.9ENG, F5, NOS3
35coronary thrombosis12.9VWF, F5, F3
36factor viii deficiency12.9VWF, F5, F3
37afibrinogenemia12.9VWF, F5, F3
38connective tissue disease12.9BMP6, BMPR2, COL5A1, ACVRL1, TGFBR2
39bleeding diathesis due to gnaq deficiency12.9VWF, F5, F3
40diabetic polyneuropathy12.9VEGFA, BMP6, NOS3
41chronic myeloproliferative disease12.9VEGFA, F5, PDGFRA
42dermatofibrosarcoma protuberans12.9HTT, PDGFRA, TGFBR2
43chronic venous leg ulcers12.8F5, PDGFRA, TGFBR2
44craniosynostosis12.8BMP6, PDGFRA, TGFBR1, TGFBR2
45diffuse scleroderma12.8BMP6, TGFB1
46hemorrhagic disease12.8VWF, F5, F3
47venous tributary occlusion of retina12.8VWF, F5, NOS3
48thrombasthenia12.8VWF, F5, F3
49peripheral arterial occlusive disease12.8VWF, F5, F3
50ischemic optic neuropathy12.8VEGFA, F5, NOS3

Graphical network of the top 20 diseases related to hereditary hemorrhagic telangiectasia:



Graphical network of diseases related to hereditary hemorrhagic telangiectasia

Clinical Features for Hereditary Hemorrhagic Telangiectasia

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33OMIM
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Clinical features from OMIM: 187300

Drugs & Therapeutics for Hereditary Hemorrhagic Telangiectasia

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hereditary Hemorrhagic Telangiectasia

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Anatomical Context for Hereditary Hemorrhagic Telangiectasia

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21LifeMap Discovery™, 22MalaCards
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MalaCards organs/tissues related to hereditary hemorrhagic telangiectasia:

22
Brain, Liver, Lung, Skin, Monocytes, Endothelial

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Embryonic and adult cells/anatomical compartments related to hereditary hemorrhagic telangiectasia:
id Organ / Tissue -> Anatomical Compartment -> Cell Relevance
1 Lateral Plate Mesoderm -> Splanchnic Mesoderm -> Mural Cells Potential therapeutic candidate

Phenotypes for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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25MGI
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MGI Mouse Phenotypes related to hereditary hemorrhagic telangiectasia:

25 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1respiratory system phenotypeMP:000538810.2ACVRL1, BMPR2, BMPR1A
2endocrine/exocrine gland phenotypeMP:00053799.5SMAD1, HTT, BMPR1A
3hematopoietic system phenotypeMP:00053979.4TGFBR3, TGFBI, ACVRL1, PDGFRA, SMAD4, ENG
4immune system phenotypeMP:00053879.3TFAP2A, TGFBI, PDGFRA, SMAD4, BMPR1A, VWF
5craniofacial phenotypeMP:00053829.0ACVRL1, PDGFRA, SMAD1, SP1, HTT, BMPR1A
6liver/biliary system phenotypeMP:00053709.0VEGFA, NOS3, ACVRL1
7embryogenesis phenotypeMP:00053808.6TFAP2A, BMPR2, HTT, TMEM100, SP1, COL5A1
8integument phenotypeMP:00107718.2TFAP2A, PDGFRA, COL5A1, SP1, HTT, F3
9limbs/digits/tail phenotypeMP:00053718.2TFAP2A, TGFBR3, TGFB2, PDGFRA, SP1, BMPR1A
10tumorigenesisMP:00020068.1TGFBR2, TGFBR1, TGFBI, TGFB1, PDGFRA, SMAD4
11reproductive system phenotypeMP:00053897.7TGFB1, PDGFRA, SMAD4, SMAD1, HTT, BMPR1A
12skeleton phenotypeMP:00053907.1TFAP2A, TGFBR3, TGFBR2, TGFBR1, TGFB2, SMAD1
13digestive/alimentary phenotypeMP:00053817.1ACVRL1, TGFB1, TGFB2, TGFBR2, TFAP2A, PDGFRA
14vision/eye phenotypeMP:00053917.1NOS3, TGFB1, TGFB2, TGFBR2, TFAP2A, SP1
15normal phenotypeMP:00028736.9SMAD4, PDGFRA, ACVRL1, TGFBR1, TGFBR2, TFAP2A
16growth/size phenotypeMP:00053786.2NOS3, PDGFRA, ACVRL1, TGFB2, TGFBI, TGFBR1
17muscle phenotypeMP:00053696.2PDGFRA, ACVRL1, TGFB1, TGFB2, TGFBR1, TGFBR2
18nervous system phenotypeMP:00036315.4PDGFRA, ACVRL1, TGFB1, TGFB2, TGFBR1, TGFBR2
19cellular phenotypeMP:00053845.3PDGFRA, TGFB1, TGFB2, TGFBI, TGFBR1, TGFBR2
20homeostasis/metabolism phenotypeMP:00053764.6SMAD4, NOS3, PDGFRA, ACVRL1, TGFB1, TGFB2
21cardiovascular system phenotypeMP:00053854.0TGFB1, TGFB2, TGFBR1, TGFBR2, TGFBR3, TFAP2A
22mortality/agingMP:00107683.8NOS3, COL5A1, PDGFRA, ACVRL1, TGFB1, TGFB2

Publications for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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35PubMed
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Articles related to hereditary hemorrhagic telangiectasia:

(show top 50)    (show all 78)
idTitleAuthorsYearAffiliating Genes
1Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. (21546842)McDonald J.... Pyeritz R.E.2011ACVRL1, ENG
2Clinical and genetic analyses of three Korean familie s with hereditary hemorrhagic telangiectasia. (21967607)Kim M.J.... Oh S.P.2011ACVRL1, ENG
3Reduced plasma levels of Ang-2 and sEng as novel biom arkers in hereditary hemorrhagic telangiectasia (HHT). (20067780)Ojeda-Fernandez L.... Botella L.M.2010ANGPT2, ENG
4Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interp retation. (19767588)McDonald J.... Bayrak-Toydemir P.2009ACVRL1, ENG
5Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. (19270816)Lee S.T.... Ki C.S.2009SMAD4, ACVRL1, ENG
6Effects of VEGF on phenotypic severity in children wi th hereditary hemorrhagic telangiectasia. (19636272)Giordano P.... SabbA C.2009TGFB1, VEGFA
7Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. (18285823)Lesca G.... Plauchu H.2008ACVRL1, ENG
8Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland. (18607909)Sankelo M.... Mattila P.S.2008ACVRL1, ENG
9Endoglin-mediated vascular remodeling: mechanisms underlying hereditary hemorrhagic telangiectasia. (18206806)Lebrin F.... Mummery C.L.2008ENG
10Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia. (18543223)Luo J.... Li J.2008ACVRL1
11Gross hematuria due to acquired haemophilia in hereditary hemorrhagic telangiectasia. (18832920)De Pascalis A.... Buongiorno E.2008F3
12Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. (17388964)SabbA C.... Guant G.2007ACVRL1, ENG
13Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). (17641482)Cottin V.... Cordier J.F.2007ACVRL1
14Hereditary hemorrhagic telangiectasia caused by mutation in intron 4 of ALK1 gene: analysis of a HTT family (17425869)Xie G.L.... Li Z.X.2007ACVRL1
15Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia. (17081563)Llorca O.... Bernabeu C.2007ENG
16Hereditary hemorrhagic telangiectasia. Genetics, pathogenesis, clinical manifestation and management. (17206283)Stuhrmann M.... El-Harith e.l.-.H.A.2007ACVRL1
17Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia. (16540754)Olivieri C.... Danesino C.2006ACVRL1
18Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia. (16282348)Gu Y.... Chen Y.G.2006ACVRL1
19Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. (16470589)Fernandez-L A.... Botella L.M.2006ACVRL1, ENG
20Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway. (16595794)Fernandez-L A.... Botella L.M.2006ACVRL1, ENG
21Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. (15712270)Kuehl H.K.A.... Stuhrmann M.2005ACVRL1, ENG
22Angiogenesis in hereditary hemorrhagic telangiectasia: VEGF165 plasma concentration in correlation to the VEGF expression and microvessel density. (15583822)Sadick H.... Riedel F.2005VEGFA
23Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. (15517393)Letteboer T.G.... Ploos van Amstel J.K.2005ACVRL1, ENG
24A role for endoglin in coupling eNOS activity and regulating vascular tone revealed in hereditary hemorrhagic telangiectasia. (15718503)Toporsian M.... Letarte M.2005ENG
25Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred. (15849752)Goldschmidt N.... Chajek-Shaul T.2005ENG
26Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. (15375013)Sanz-Rodriguez F.... Botella L.M.2004ACVRL1, ENG
27Clinical phenotypes, ALK1 gene mutation and level of related plasma proteins in Chinese hereditary hemorrhagic telangiectasia. (15198877)Zhang G.S.... He X.B.2004ACVRL1
28Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene. (15569532)Xie B.S.... Hu L.M.2004ACVRL1
29Mutation of the activin receptor-like kinase 1(ALK1) gene and the expression of plasma thrombomodulin in type-2 hereditary hemorrhagic telangiectasia: a study of a Chinese family (15059530)Zhang G.S.... He X.B.2004ACVRL1
30Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. (12673790)Cymerman U.... Letarte M.2003ENG
31Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). (11773580)Morgan T.... Manning M.2002ACVRL1
32Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. (11793473)Dakeishi M.... Koizumi A.2002ENG
33Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. (11170071)Kjeldsen A.D.... Vase P.2001ACVRL1, ENG
34Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation. (11802521)Lin W.D.... Tsai C.H.2001ACVRL1
35Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. (11484689)Trembath R.C.... Morrell N.W.2001BMPR2, ACVRL1, BMP6
36Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. (10982033)Gallione C.J.... Marchuk D.A.2000ENG
37Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. (10946360)McDonald J.E.... Ward K.J.2000ACVRL1
38Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. (10702408)Bourdeau A.... Letarte M.2000ENG
39Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. (10625079)Cymerman U.... Letarte M.2000ACVRL1, ENG
40Endoglin-deficient mice, a unique model to study hereditary hemorrhagic telangiectasia. (11343967)Bourdeau A.... Letarte M.2000ENG
41Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. (11019486)Azuma H.2000ACVRL1
42Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. (10767348)Abdalla S.A.... Letarte M.2000ACVRL1, ENG
43Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. (9554745)Gallione C.J.... Marchuk D.A.1998ENG
44The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. (9245985)Berg J.N.... Marchuk D.A.1997ACVRL1
45Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. (9366572)Pece N.... Letarte M.1997ENG
46A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia. (9157574)Yamaguchi H.... Saito S.1997ENG
47COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. (7759113)Greenspan D.S.... Kwiatkowski D.J.1995COL5A1
48A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. (8717052)Johnson D.W.... Marchuk D.A.1995ACVRL1
49Hereditary hemorrhagic telangiectasia associated wit h von Willebrand's disease; literature review (1942541)Sugiura Y.... Watanabe K.1991VWF
50Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). (1673047)Iannuzzi M.C.... Ginsburg D.1991VWF

Expression for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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Expression patterns in normal tissues for genes affiliated with Hereditary Hemorrhagic Telangiectasia

Pathways for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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36QIAGEN, 38Reactome, 37R&D Systems, 10EMD Millipore, 41Thomson Reuters, 3Cell Signaling Technology, 20KEGG
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Pathways related to hereditary hemorrhagic telangiectasia according to GeneDecks:

(show top 50)    (show all 98)
idPathwayScoreTop Affiliating Genes
1Actin-Based Motility by Rho Family GTPases3610.2TGFBR1, GDF2, BMP10
2Telomerase Components in Cell Signaling369.9BMP10, BMP6, TGFBR3, GDF2, PDGFRA
3Signaling by BMP389.6BMPR1A, SMAD4, SMAD1, BMPR2
4eIF2 Pathway369.6TGFB2, PDGFRA, BMP6, GDF2, TGFBR3, BMP10
5PTEN Pathway369.5COL5A1, BMP10, PDGFRA, GDF2, TGFBR3, TGFBR1
6Akt Signaling369.5BMP10, BMPR2, GDF2, TGFB2, ACVRL1, PDGFRA
7PPAR Pathway369.5TGFBR3, TGFBR1, TGFB2, PDGFRA, BMP10, GDF2
8Inhibition of Angiogenesis by TSP1369.4COL5A1, TGFBR3, TGFBR2, TGFBR1, TGFB2
9IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types379.3TGFBR3, TGFBR1, TGFBR2, TGFB2, TGFB1
10Cell adhesion Plasmin signaling109.2TGFB2, TGFBR1, VEGFA, TGFBR2, TGFBR3
11Th17 Differentiation379.2TGFBR2, TGFBR1, TGFB2, TGFB1, SMAD1, SMAD4
12IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types379.2TGFB1, TGFB2, TGFBR1, TGFBR2, TGFBR3
13CREB Pathway369.1GDF2, TGFB2, TGFBR1, TGFBR3, PDGFRA, BMP6
14Factors Promoting Cardiogenesis in Vertebrates369.1TGFB1, BMPR1A, BMP10, TGFB2, TGFBR1, TGFBR2
15Cell cycle Regulation of G1/S transition (part 1)109.0SP1, SMAD4, TGFB2, TGFBR2, TGFBR1, TGFB1
16Cell cycle_Regulation of G1/S transition (part 1)419.0TGFB2, TGFBR2, TGFBR1, TGFB1, SMAD4, SP1
17TGF-beta Signaling Pathways378.9ENG, SMAD1, TGFB1, TGFB2, TGFBR1, TGFBR2
18Apoptotic Pathways in Synovial Fibroblasts368.8GDF2, TGFBR3, TGFBR1, TGFB2, TGFB1, BMP10
19SMAD Signaling Network368.8BMP10, TGFB1, TGFB2, BMP6, TGFBR2, TGFBR1
20p53 Mediated Apoptosis368.8TGFB2, GDF2, TGFBR3, TGFB1, PDGFRA, BMP6
21Mitochondrial Apoptosis368.8TGFBR1, TGFB2, TGFB1, PDGFRA, BMP6, TGFBR3
22DHA Signaling368.8TGFBR3, TGFB2, TGFB1, PDGFRA, BMP6, TGFBR1
23ERK5 Signaling368.8TGFB2, GDF2, BMP10, BMP6, PDGFRA, TGFBR3
24Cellular Apoptosis Pathway368.8GDF2, TGFBR3, TGFBR1, BMP10, TGFB2, BMP6
25Nuclear Receptor Activation by Vitamin-A368.7GDF2, TGFBR1, TGFBR3, BMP6, BMP10, PDGFRA
26Rac1 Pathway368.7TGFBR3, BMP6, PDGFRA, TGFB1, TGFBR1, GDF2
27p70S6K Signaling368.7TGFBR1, BMP6, TGFB2, PDGFRA, TGFB1, TGFBR3
28Activation of PKC through GPCR368.7TGFB2, BMP10, TGFBR3, PDGFRA, TGFB1, BMP6
29Cell adhesion_Plasmin signaling418.7TGFB2, TGFBR1, TGFBR2, VEGFA, TGFB1, TGFBR3
30Renin-Angiotensin Pathway368.7TGFBR3, TGFBR1, GDF2, BMP10, BMP6, PDGFRA
31Angiogenesis38.6TGFBR1, TGFBR3, TGFB1, TGFB2, PDGFRA, NOS3
32Pancreatic Adenocarcinoma368.6BMP10, BMP6, GDF2, TGFBR2, TGFBR1, TGFB2
33Epithelial Adherens Junctions368.5TGFB2, GDF2, TGFBR3, TGFBR2, TGFBR1, TGFB1
34TGF-beta/Smad Signaling38.5BMPR2, TGFBR2, TGFBR1, TGFBI, TGFB2, TGFB1
35Phospholipase-C Pathway368.4GDF2, TGFBR1, TGFB2, TGFB1, PDGFRA, COL5A1
36Pathways in cancer208.3VEGFA, PDGFRA, TGFB1, TGFBR1, TGFBR2, SMAD4
37MAPK Signaling368.3TGFBR1, COL5A1, GDF2, BMP6, PDGFRA, TGFB1
38Estrogen Pathway368.2TGFB2, BMP10, BMP6, SP1, NOS3, PDGFRA
39Cytokine production by Th17 cells in CF (Mouse model)418.1TGFBR2, TGFBR1, SMAD4, IL8, TGFB1
40TGF-beta signaling pathway208.1TGFB2, TGFBR1, TGFB1, SMAD4, SMAD1, SP1
41TGF-Beta Pathway368.0IL8, GDF2, BMP6, BMP10, ANGPT2, TGFBR2
42JAK-STAT Pathway367.8GDF2, BMP10, IL8, ANGPT2, TGFB2, SP1
43PAK Pathway367.8IL8, TGFBR1, TGFB2, GDF2, PDGFRA, ANGPT2
44Molecular Mechanisms of Cancer367.8BMP6, ANGPT2, TGFBR1, BMPR1A, GDF2, TGFBR2
45MAPK Family Pathway367.8BMP10, BMP6, IL8, ANGPT2, TGFB1, TGFBR2
46Tec Kinases Signaling367.8BMPR2, BMPR1A, GDF2, IL8, ANGPT2, PDGFRA
47Rho Family GTPases367.7TGFB2, IL8, ANGPT2, COL5A1, PDGFRA, BMP6
48Antioxidant Action of Vitamin-C367.3ANGPT2, BMP10, BMPR1A, BMPR2, IL8, BMP6
49Cytokine-cytokine receptor interaction207.3TGFBR2, VEGFA, BMPR1A, BMPR2, INHBE, IL8
50p38 Signaling367.1TGFB2, BMP10, BMP6, BMPR1A, IL8, TGFBR1

Compounds for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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32Novoseek , 18HMDB, 9DrugBank, 34PharmGKB, 42Tocris Bioscience
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Compounds related to hereditary hemorrhagic telangiectasia according to GeneDecks:

(show top 50)    (show all 103)
idCompoundScoreTop Affiliating Genes
1citrate32 10.4NOS3
2hirudin32 10.3F5
3threonine32 10.3BMPR1A, BMPR2, SMAD1
4pge232 10.3TGFB2, TFAP2A, ANGPT2
5hyaluronic acid32 18 11.0BMP6, HTT, ENG
6heparin32 9 18 9 12.8TGFBR1, F3, VWF
7mannose 6-phosphate32 18 10.2TGFB2, BMP6, TGFBR2, TFAP2A, TGFB1
8tgf beta132 9.1SP1, ACVRL1, TGFBR2, PDGFRA, SMAD4, ENG
9dermatan sulfate32 9.1VWF, BMP6, F5, F3
10epinephrine32 9 18 9 12.1TFAP2A, SP1, F3, BMP6, F5
11perindopril32 34 9 9 11.9NOS3, TGFB1, VEGFA, VWF
12ciglitazone32 8.9IL8, SP1, TFAP2A, NOS3
13folate32 8.8PDGFRA, NOS3, TFAP2A, VWF, F5, SP1
14glutamate32 8.8TGFB2, HTT, BMP6, SP1, TFAP2A, TGFBR2
15cysteine32 8.8ENG, ANGPT2, TGFB2, TGFBI, HTT, TGFBR2
16estrogen32 8.7VWF, ENG, ANGPT2, NOS3, PDGFRA, TGFB2
17ribonucleic acid32 8.7TGFB2, TGFB1, BMP6, TGFBR1, TGFBR2, ANGPT2
18rapamycin32 42 9.7HTT, VEGFA, TGFBR1, PDGFRA, SP1
19progesterone32 42 9 18 9 12.7F5, BMP6, TFAP2A, BMPR2, ENG, TGFBR2
20atorvastatin32 34 9 18 9 12.7BMP6, NOS3, F5, VEGFA, VWF
21thymidine32 18 9.7TGFB1, TGFB2, BMP6, BMPR2, SP1, SMAD4
22gm-csf32 8.6TGFB1, IL8, VEGFA, BMP6
23dihydrotestosterone32 9 18 9 11.5SP1, SMAD4, ENG, BMP6, TGFB1, TFAP2A
2415-deoxy-delta-12,14-prostaglandin j232 8.5BMP6, IL8, NOS3, TFAP2A, VEGFA
25vitamin d32 8.5TFAP2A, NOS3, SP1, BMP6, TGFB1, TGFB2
26troglitazone32 42 9 9 11.4TFAP2A, BMP6, IL8, SP1, TGFB1
27ly29400232 8.3SP1, TGFB1, TGFBR1, IL8, VEGFA
28paraffin32 8.2TGFB1, PDGFRA, SMAD4, ANGPT2, ENG, VEGFA
29prostacyclin32 8.1VWF, F5, BMP6, NOS3, VEGFA, F3
30cyclosporin a32 42 9.1BMP6, TGFB2, TGFBR2, ANGPT2, TGFB1, TFAP2A
31creatinine32 8.0VWF, TGFB2, BMP6, HTT, F3, F5
32pd 98,05932 8.0IL8, SP1, TGFB1, BMP6, SMAD4, SMAD1
33adp32 18 9.0F3, HTT, BMPR2, BMPR1A, VWF, ACVRL1
34glutamine32 7.8HTT, F5, SP1, TGFB1, BMP6, TGFBI
35diphenyleneiodonium32 7.8TGFB1, VEGFA, IL8, NOS3
36tamoxifen32 34 9 9 10.7TGFB1, BMP6, F5, VEGFA, TGFB2, SP1
37matrigel32 7.6ANGPT2, BMP6, TGFBR1, NOS3, VWF, VEGFA
38lactate32 7.5F5, VWF, BMP6, IL8, HTT, TGFB1
39sb 20358032 42 8.5BMP6, F3, SP1, VEGFA, IL8, TGFB1
40simvastatin32 34 42 9 18 9 12.3SP1, F5, VEGFA, VWF, BMP6, NOS3
41oligonucleotide32 7.3TGFB2, TGFBR2, TFAP2A, TGFBR1, TGFB1, BMP6
42alanine32 7.2TGFBR2, TFAP2A, F3, TGFBR1, TGFB1, SMAD4
43actinomycin d32 7.2VEGFA, IL8, F3, SP1, NOS3, TGFB1
44cycloheximide32 7.0VEGFA, TFAP2A, TGFBR1, TGFBR2, TGFB2, TGFB1
45dexamethasone32 42 34 9 9 10.7SP1, BMP6, IL8, VEGFA, ENG, ANGPT2
46nitric oxide32 9 18 9 9.7SMAD4, BMP6, BMPR2, IL8, ANGPT2, NOS3
47tyrosine32 6.5TGFB2, TGFBR1, SMAD4, TGFBR2, TGFBR3, VEGFA
48retinoic acid32 42 18 8.3TGFBR1, BMP6, ANGPT2, F5, F3, SP1
49vegf32 5.0VWF, VEGFA, BMP6, IL8, ENG, ANGPT2
50serine32 4.5TGFBR1, TGFB1, TGFBR2, VWF, TGFBI, TGFB2

GO Terms for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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12Gene Ontology
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Cellular components related to hereditary hemorrhagic telangiectasia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:0700229.9ENG, TGFBR1, TGFBR2
2caveolaGO:0059019.3TGFBR2, NOS3, BMPR2, BMPR1A
3extracellular matrixGO:0310129.2VWF, F3, COL5A1, TGFB2, TGFBI
4neuronal cell bodyGO:0430258.8TGFB2, TGFB1, ACVRL1, BMPR2, BMPR1A
5platelet alpha granule lumenGO:0310938.5TGFB2, TGFB1, F5, VEGFA, VWF
6proteinaceous extracellular matrixGO:0055788.5TGFBR3, TGFBI, TGFB1, VEGFA, VWF
7cell surfaceGO:0099868.4TGFBR3, TGFB2, TGFB1, ACVRL1, ENG, BMPR2
8extracellular regionGO:0055766.8TGFB2, TGFB1, COL5A1, F5, ANGPT2, IL8
9extracellular spaceGO:0056156.4VEGFA, GDF2, TGFBR3, TGFBI, TGFB2, TGFB1

Biological processes related to hereditary hemorrhagic telangiectasia according to GeneDecks:

(show top 50)    (show all 72)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of DNA biosynthetic processGO:200027910.4GDF2, ACVRL1, BMPR2
2negative regulation of endothelial cell migrationGO:01059610.3BMP10, ACVRL1, GDF2
3positive regulation of endothelial cell differentiationGO:04560310.3GDF2, ACVRL1, BMP6
4retina vasculature development in camera-type eyeGO:06129810.2BMPR2, PDGFRA, ACVRL1
5cardiac muscle cell proliferationGO:06003810.2TGFBR3, TGFB2, BMP10
6positive regulation of BMP signaling pathwayGO:03051310.2GDF2, ACVRL1, SMAD4, ENG, BMPR2
7neuron fate commitmentGO:04866310.0TGFBR1, TGFB2, SMAD4
8positive regulation of epithelial cell migrationGO:01063410.0TGFBR2, TGFB2, BMPR2
9SMAD protein complex assemblyGO:00718310.0TGFB1, SMAD4, SMAD1
10regulation of transforming growth factor beta receptor signaling pathwayGO:01701510.0TGFB1, SMAD4, ENG
11negative regulation of blood vessel endothelial cell migrationGO:0435379.9GDF2, TGFB1, ACVRL1, ANGPT2
12patterning of blood vesselsGO:0015699.9ENG, TGFBR2, GDF2
13positive regulation of osteoblast differentiationGO:0456699.9GDF2, SMAD1, BMPR2, BMPR1A, BMP6
14embryonic cranial skeleton morphogenesisGO:0487019.8TFAP2A, TGFBR2, TGFBR1, PDGFRA
15cartilage developmentGO:0512169.8BMP6, BMPR1A, TGFBR2, GDF2
16blood vessel remodelingGO:0019749.8TGFB2, ACVRL1, NOS3, BMPR2
17positive regulation of epithelial to mesenchymal transitionGO:0107189.8SMAD4, TGFB1, TGFB2
18wound healingGO:0420609.8TGFBR1, TGFB2, PDGFRA, SMAD1, ENG
19negative regulation of endothelial cell proliferationGO:0019379.8ENG, ACVRL1, GDF2
20kidney developmentGO:0018229.7TFAP2A, TGFBR1, TGFB2, SMAD1, BMP6
21negative regulation of release of sequestered calcium ion into cytosolGO:0512809.7TGFB1, TGFB2
22positive regulation of SMAD protein import into nucleusGO:0603919.7TGFBR1, TGFB1, SMAD4, BMPR1A
23response to cholesterolGO:0707239.7TGFBR2, TGFBR1, TGFB1
24positive regulation of protein secretionGO:0507149.6TGFB2, TGFB1, BMP6
25epithelial to mesenchymal transitionGO:0018379.6TGFBR3, TGFBR1, TGFB2, TGFB1
26vasculogenesisGO:0015709.6GDF2, TGFBR2, ENG, VEGFA
27positive regulation of bone mineralizationGO:0305019.5TFAP2A, TGFB1, BMPR2, BMPR1A, BMP6
28palate developmentGO:0600219.5TFAP2A, TGFBR3, TGFBR2, TGFBR1, SMAD4, BMPR1A
29vascular endothelial growth factor receptor signaling pathwayGO:0480109.5PDGFRA, BMPR2, VEGFA
30negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.4ENG, TGFB1, TGFBR1, TGFBR2, TGFBR3
31negative regulation of cell growthGO:0303089.4GDF2, TGFB2, TGFB1, ACVRL1, SMAD4, BMPR2
32activation of protein kinase activityGO:0321479.4TGFBR2, TGFB2, VEGFA
33in utero embryonic developmentGO:0017019.3TGFBR2, TGFBR1, ACVRL1, NOS3, SMAD4, BMPR1A
34positive regulation of endothelial cell proliferationGO:0019389.3GDF2, ACVRL1, F3, BMPR2, BMP6, VEGFA
35BMP signaling pathwayGO:0305099.1BMP10, BMP6, BMPR1A, BMPR2, ENG, SMAD1
36positive regulation of angiogenesisGO:0457669.1GDF2, NOS3, F3, ANGPT2, VEGFA
37response to estradiol stimulusGO:0323559.1TGFB2, TGFB1, NOS3, F3
38pathway-restricted SMAD protein phosphorylationGO:0603899.0GDF2, BMP10, TGFB1, TGFB2, TGFBR1, TGFBR2
39positive regulation of gene expressionGO:0106289.0VEGFA, SMAD1, TGFB1, TGFB2, TFAP2A
40protein phosphorylationGO:0064688.9TGFBR2, TGFBR1, TGFB2, TGFB1, ACVRL1, SMAD1
41positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108628.7GDF2, TGFBR1, TGFB1, ACVRL1, SMAD4, ENG
42platelet degranulationGO:0025768.7TGFB2, TGFB1, F5, VEGFA, VWF
43positive regulation of transcription, DNA-dependentGO:0458938.7GDF2, TFAP2A, TGFBR1, TGFB1, ACVRL1, SMAD4
44response to hypoxiaGO:0016668.4TGFBR3, TGFB2, TGFB1, NOS3, SMAD4, ANGPT2
45angiogenesisGO:0015258.2TGFBI, TGFB2, ACVRL1, NOS3, ANGPT2, IL8
46positive regulation of transcription from RNA polymerase II promoterGO:0459448.2GDF2, TFAP2A, TGFB1, ACVRL1, SMAD4, SMAD1
47negative regulation of cell proliferationGO:0082858.2TFAP2A, TGFB2, TGFB1, ACVRL1, NOS3, SMAD4
48positive regulation of cell proliferationGO:0082848.1TGFBR2, TGFBR1, TGFB2, TGFB1, PDGFRA, VEGFA
49transforming growth factor beta receptor signaling pathwayGO:0071798.1TGFB2, TGFB1, ACVRL1, SMAD4, SMAD1, SP1
50blood coagulationGO:0075967.7TGFB2, TGFB1, NOS3, F3, F5, ANGPT2

Molecular functions related to hereditary hemorrhagic telangiectasia according to GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor activity, type IGO:00502510.1ACVRL1, TGFBR1
2activin bindingGO:04818510.0ENG, ACVRL1, TGFBR3
3I-SMAD bindingGO:07041110.0TGFBR1, SMAD4, SMAD1
4receptor signaling protein serine/threonine kinase activityGO:0047029.9ACVRL1, TGFB2, TGFBR2
5transmembrane receptor protein serine/threonine kinase activityGO:0046759.7TGFBR2, TGFBR1, ACVRL1, BMPR1A
6glycosaminoglycan bindingGO:0055399.7ENG, TGFBR2, TGFBR3
7transforming growth factor beta bindingGO:0504319.7TGFBR3, TGFBR2, TGFBR1, ACVRL1, ENG
8SMAD bindingGO:0463329.5TGFBR3, TGFBR2, TGFBR1, ACVRL1, BMPR1A
9RNA polymerase II core promoter sequence-specific DNA bindingGO:0009799.4TFAP2A, SMAD1, SP1
10type II transforming growth factor beta receptor bindingGO:0051149.4TGFBR3, TGFBR1, TGFB2, TGFB1, ENG
11transforming growth factor beta-activated receptor activityGO:0050249.3BMPR1A, BMPR2, ENG, ACVRL1, TGFBR1, TGFBR2
12cytokine activityGO:0051259.1GDF2, TGFB2, BMP6, BMP10, VEGFA
13growth factor activityGO:0080838.6GDF2, TGFB2, TGFB1, INHBE, BMP6, BMP10
14protein homodimerization activityGO:0428037.7TFAP2A, TGFB2, TGFB1, PDGFRA, SMAD4, SP1
15protein bindingGO:0055153.2NOS3, PDGFRA, ACVRL1, TGFB1, TGFB2, TGFBR1

Sources for Hereditary Hemorrhagic Telangiectasia

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2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS
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