HHT
MCID: HRD008
MIFTS: 74

Hereditary Hemorrhagic Telangiectasia (HHT) malady

Cardiovascular, Neuronal, Eye, Bone, Skin, Fetal categories

Summaries for Hereditary Hemorrhagic Telangiectasia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NIH Rare Diseases:43 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. last updated: 11/7/2011

MalaCards: Hereditary Hemorrhagic Telangiectasia, also known as HHT, is related to arteriovenous malformation and telangiectasis, and has symptoms including seizures/epilepsy/absences/spasms/status epilepticus, autosomal dominant inheritance and visual loss/blindness/amblyopia. An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (endoglin), and among its related pathways are Toll-like receptor signaling pathway and PEDF Induced Signaling. The compounds monocrotaline and ryudocan have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are nervous system and muscle.

Genetics Home Reference:21 Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

Wikipedia:64 Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and... more...

Description from OMIM:47 187300,600376,601101,610655,615506

GeneReviews summary for hht

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM, 40NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular, Neuronal, Eye, Bone, Skin


Characteristics (Orphanet epidemiological data):

49
hereditary hemorrhagic telangiectasia:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

hereditary hemorrhagic telangiectasia 8 64 19 43 20 21 10 49 61
hht 19 43 21 49
osler hemorrhagic telangiectasia syndrome 8 22 21
osler-weber-rendu disease 8 64 19
hereditary hemorrhagic telangiectasia type 1 43 22
rendu-osler-weber disease 8 49
telangiectasia, hereditary hemorrhagic, type 1 47
telangiectasia hereditary hemorrhagic 45
osler-rendu-weber disease 21
osler-rendu disease 21
rendu-osler disease 49
rendu-osler-weber 21
osler's disease 21
weber-osler 21
orw disease 43
hht1 43
orw1 43


External Ids:

Disease Ontology8 DOID:1270
ICD9CM27 448.0
NCIt40 C35064
ICD10 via Orphanet26 I78.0
ICD1025 I78.0

Related Diseases for Hereditary Hemorrhagic Telangiectasia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Hereditary Hemorrhagic Telangiectasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation31.6ACVRL1
2telangiectasis31.1ACVRL1, ENG
3angiodysplasia30.6VWF, ACVRL1, ENG
4vascular disease30.4VWF, ANGPT2
5colorectal cancer30.4TFAP2A, ANGPT2, ENG, SP1, SMAD4, TGFB2
6pulmonary arteriovenous malformation10.9
7juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.7
8weber syndrome10.6
9stroke, hemorrhagic10.5
10juvenile polyposis syndrome10.5
11coronary artery disease,10.4
12filamentary keratitis10.4
13epithelioid leiomyosarcoma10.4
14coronary artery aneurysm10.4
15keratitis, hereditary10.4
16splenomegaly10.4
17portal hypertension10.4
18hereditary hemorrhagic telangiectasia type 210.4
19hereditary hemorrhagic telangiectasia type 310.4
20eng-related hereditary hemorrhagic telangiectasia10.4
21mass syndrome10.4
22scalp syndrome10.4
23deficiency anemia10.3
24iron deficiency anemia10.3
25hereditary hemorrhagic telangiectasia type 410.3
26smad4-related hereditary hemorrhagic telangiectasia10.3
27acvrl1-related hereditary hemorrhagic telangiectasia10.3
28pseudoxanthoma elasticum10.3
29angina pectoris10.2
30crohn's disease10.2
31root resorption10.2
32antiphospholipid syndrome10.2
33hepatitis c10.2
34tuberous sclerosis10.2
35coronary aneurysm10.2
36primary biliary cirrhosis10.2
37nail-patella syndrome10.2
38raynaud disease10.2
39hepatitis d10.2
40n syndrome10.2
41arc syndrome10.2
42acute leukemia10.2
43hepatitis a10.2
44aneurysm disease10.2
45brain disease10.2
46thrombophilia10.2
47ehlers–danlos syndrome10.2
48faces syndrome10.2
49hereditary pancreatitis10.2
50microscopic polyangiitis10.2

Graphical network of the top 20 diseases related to Hereditary Hemorrhagic Telangiectasia:



Diseases related to hereditary hemorrhagic telangiectasia

Clinical Features for Hereditary Hemorrhagic Telangiectasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

187300,600376,601101,610655,615506

Clinical synopsis from OMIM:

187300

Symptoms:

49 (show all 34)
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal dominant inheritance
  • visual loss/blindness/amblyopia
  • portal hypertension
  • hepatocellular liver disease/hepatic failure
  • telangiectasiae of the skin
  • cavernous/tuberous hemangioma
  • heart/cardiac failure
  • telangiectasiae of mucosae
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • cirrhosis
  • pulmonary hypertension
  • hematuria/microhematuria
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • microcytic anemia
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • venous thrombosis/phlebitis/thrombophlebitis
  • facial pain/cephalalgia/migraine
  • transient cerebral ischemia/stroke
  • functional anomalies of the liver and the biliary tract
  • pulmonary thromboembolism
  • hematomas
  • retinal vascular anomalies/retinal telangiectasia
  • conjunctival telangiectasia
  • visceral angiomatosis (excluding skin)
  • cerebral vascular anomalies
  • polyposis of the bowel/colon/intestine
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • epistaxis/nose bleeding
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • esophageal varices
  • functional anomalies of the cardio-circulatory system
  • hemoptysis
  • peripheral arteriovenous fistula

Drugs & Therapeutics for Hereditary Hemorrhagic Telangiectasia

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

Approved drugs:

Search CenterWatch for Hereditary Hemorrhagic Telangiectasia

Drug clinical trials:

Search ClinicalTrials for Hereditary Hemorrhagic Telangiectasia

Search NIH Clinical Center for Hereditary Hemorrhagic Telangiectasia

Search CenterWatch for Hereditary Hemorrhagic Telangiectasia

Genetic Tests for Hereditary Hemorrhagic Telangiectasia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hereditary Hemorrhagic Telangiectasia:

id Genetic test Affiliating Genes
1 Hereditary Hemorrhagic Telangiectasia20 SMAD4
2 Hereditary Hemorrhagic Telangiectasia Type 122
3 Osler Hemorrhagic Telangiectasia Syndrome22

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

33
Skin, Liver, Brain, Lung, Heart, Colon, Monocytes, T cells, Endothelial, Appendix

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

Cells/anatomical compartments in embryo or adult related to Hereditary Hemorrhagic Telangiectasia:
id TissueAnatomical CompartmentCell Relevance
1 Lateral Plate MesodermSplanchnic MesodermMural Cells Potential therapeutic candidate

Animal Models for Hereditary Hemorrhagic Telangiectasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hereditary Hemorrhagic Telangiectasia

Sources:
51PubMed
See all sources

Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50)    (show all 516)
idTitleAuthorsYear
1
Cerebral vascular malformations in hereditary hemorrhagic telangiectasia. (24236651)
2014
2
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
3
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. (23972370)
2013
4
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. (23653583)
2013
5
Paradoxical Coronary Embolisms as a Presentation of hereditary hemorrhagic telangiectasia. (24239663)
2013
6
Prevalence of pulmonary arteriovenous malformations in children versus adults with hereditary hemorrhagic telangiectasia. (23522378)
2013
7
Portal shunt scintigraphy (PSS) in the evaluation of patients suspected of hereditary hemorrhagic telangiectasia. (23797221)
2013
8
The effect of anterior palatine blocks on bleeding in hereditary hemorrhagic telangiectasia nasal surgery. (23670536)
2013
9
Long-term therapy with thalidomide in hereditary hemorrhagic telangiectasia: case report and literature review. (22031620)
2012
10
Brain abscess caused by Enterococcus faecalis following a dental procedure in a patient with hereditary hemorrhagic telangiectasia. (22337991)
2012
11
A brain abscess following dental extractions in a patient with hereditary hemorrhagic telangiectasia. (20719417)
2011
12
The use of narrow band imaging in patients with benign disease: hereditary hemorrhagic telangiectasia. (23208632)
2011
13
Rupture of the main pulmonary trunk in a woman with severe pulmonary artery hypertension and hereditary hemorrhagic telangiectasia. (22737832)
2011
14
The natural history of epistaxis in patients with hereditary hemorrhagic telangiectasia in the Norwegian population: a cross-sectional study. (21819756)
2011
15
Anti-VEGF with 3-week intervals is effective on anemia in a patient with severe hereditary hemorrhagic telangiectasia. (20824275)
2011
16
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. (22192717)
2011
17
Myocardial infarction in a low risk patient with hereditary hemorrhagic telangiectasia. (20544620)
2010
18
An epistaxis severity score for hereditary hemorrhagic telangiectasia. (20087969)
2010
19
A case of hereditary hemorrhagic telangiectasia. (20523789)
2009
20
Hereditary hemorrhagic telangiectasia: transient ischemic attacks. (19364793)
2009
21
Hypermanganesemia, hereditary hemorrhagic telangiectasia, brain abscess: the hepatic connection. (19652148)
2009
22
Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. (18972447)
2008
23
TIPS in hereditary hemorrhagic telangiectasia: never say never. (18093683)
2008
24
Prevalence of ocular manifestations in hereditary hemorrhagic telangiectasia. (17226024)
2007
25
Education and imaging. Hepatobiliary and pancreatic: hepatic arteriovenous malformations in hereditary hemorrhagic telangiectasia. (17716356)
2007
26
Rupture of hepatic aneurysm complicating hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) for which hepatic arterial coil embolization was effective. (18031399)
2007
27
Hereditary hemorrhagic telangiectasia. Below the surface, health dangers threaten. (19998958)
2007
28
Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients. (17219009)
2007
29
Analysis of angiogenesis related proteins and its implication in type-2 hereditary hemorrhagic telangiectasia]. (17278429)
2006
30
Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: an echocardiographic perspective. (16455431)
2006
31
Spontaneous regression of a cerebral arteriovenous malformation in a child with hereditary hemorrhagic telangiectasia. Case report. (17328270)
2006
32
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. (15517393)
2005
33
High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. (15550313)
2004
34
Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. (15266205)
2004
35
Embolization of a duodenal arteriovenous malformation in hereditary hemorrhagic telangiectasia: case report and review of the literature. (14631462)
2003
36
Images in cardiovascular medicine. Pulmonary venous aneurysms in hereditary hemorrhagic telangiectasia detected by 3-dimensional magnetic resonance angiography. (14581389)
2003
37
Clinical diagnosis: Intrahepatic arteriovenous fistula associated with hereditary hemorrhagic telangiectasia. (12508841)
2002
38
Hereditary hemorrhagic telangiectasia mimicking metastases in a patient with gastric carcinoma. (12517049)
2002
39
Choroidal telangiectasia in a patient with hereditary hemorrhagic telangiectasia. (11913900)
2002
40
Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. (11793473)
2002
41
Hemostatic effects of tamoxifen in hereditary hemorrhagic telangiectasia. (11246565)
2001
42
Multiple coronary artery-left ventricular fistulas associated with hereditary hemorrhagic telangiectasia. (11591593)
2001
43
Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) and its manifestation in the liver]. (11505335)
2001
44
Efficacy of unusually high doses of tranexamic acid for the treatment of epistaxis in hereditary hemorrhagic telangiectasia. (11565536)
2001
45
Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). (10992384)
2000
46
Liver transplantation for hepatic arteriovenous malformation with high-output cardiac failure in hereditary hemorrhagic telangiectasia: hemodynamic study. (10960210)
2000
47
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. (10982033)
2000
48
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. (10545596)
1999
49
Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1. (9845534)
1998
50
Hereditary hemorrhagic telangiectasia associated with von Willebrand's disease; literature review]. (1942541)
1991

Genetic Variations for Hereditary Hemorrhagic Telangiectasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

63 (show all 14)
id Symbol AA change Variation SNP ID
1ENGp.Gly52ValVAR_005193
2ENGp.Cys53ArgVAR_005194
3ENGp.Trp149CysVAR_005195
4ENGp.Leu306ProVAR_005197
5ENGp.Ala160AspVAR_009120
6ENGp.Leu221ProVAR_009121
7ENGp.Leu8ProVAR_026774
8ENGp.Val49PheVAR_026775
9ENGp.Leu107ArgVAR_026776
10ENGp.Ile263ThrVAR_026780
11ENGp.Cys412SerVAR_026781
12ENGp.Val504MetVAR_026782rs116330805
13ENGp.Ser615LeuVAR_026783
14ENGp.Gly413ValVAR_037140

Expression for genes affiliated with Hereditary Hemorrhagic Telangiectasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hereditary Hemorrhagic Telangiectasia

Search GEO for disease gene expression data for Hereditary Hemorrhagic Telangiectasia.

Pathways for genes affiliated with Hereditary Hemorrhagic Telangiectasia

Sources:
38NCBI BioSystems Database, 30KEGG, 52QIAGEN, 53R&D Systems, 12EMD Millipore, 54Reactome, 4Cell Signaling Technology, 56SinoBiological
See all sources

Pathways related to Hereditary Hemorrhagic Telangiectasia according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.3TGFBR1
2
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10.3TGFBR1
3
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10.1TGFBR1, TGFB2
4
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10.1TGFB2, TGFBR1
5
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10.1TGFB2, TGFBR1
6
Hide members
10.1TGFB2, TGFBR1
710.1TGFB2, TGFBR1
8
Hide members
10.0GDF2, BMP10, PDGFRA
910.0SMAD4, SMAD1, BMPR2
1010.0TGFBR1, SMAD4, BMPR2
11
Hide members
10.0SMAD4, TGFBR1, TGFB2
1210.0SMAD4, SP1, ENG
13
Development TGF-beta receptor signaling
Hide members
9.9TGFBR1, SMAD4, SP1
149.9SMAD4, SMAD1, BMPR2, BMP10
159.9ENG, SMAD1, SMAD4, TGFBR1
16
Hide members
9.8TGFBR1, GDF2, BMP10, PDGFRA
17
Hide members
9.8PDGFRA, BMP10, GDF2, TGFBR1
189.8PDGFRA, SMAD4, TGFBR1, TGFB2
199.8TGFB2, TGFBR1, SMAD4, PDGFRA
20
Hide members
9.8SMAD1, SMAD4, TGFBR1, TGFB2
21
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9.8BMP10, ANGPT2, GDF2, SP1
22
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9.8BMP10, BMP6, GDF2, TGFB2
23
Hide members
9.8BMPR2, BMP6, SMAD1, SMAD4
249.7PDGFRA, SP1, SMAD4, TGFBR1
25
Cell cycle Cell cycle (generic schema)
Hide members
9.7SP1, SMAD4, TGFBR1, TGFB2
269.7BMP10, BMP6, TGFBR1, TGFB2
279.7PDGFRA, ANGPT2, ENG, TGFBR1, TGFB2
28
Hide members
9.7PDGFRA, BMP10, BMPR2, TGFBR1, TGFB2
299.7BMP10, BMPR2, INHBE, ACVRL1, TGFBR1
309.6BMPR2, BMP6, ACVRL1, SMAD1, SMAD4
31
Hide members
9.6PDGFRA, BMP10, BMP6, GDF2, TGFB2
329.6BMPR2, SP1, SMAD1, SMAD4, TGFBR1
339.6BMPR2, GDF2, ACVRL1, SMAD1, SMAD4, TGFBR1
349.6ACVRL1, ENG, SMAD1, SMAD4, TGFBR1, TGFB2
359.5BMPR2, ENG, SMAD1, SMAD4, TGFBR1, TGFB2
369.5ACVRL1, ENG, SP1, SMAD4, TGFBR1, TGFB2
37
Hide members
9.4PDGFRA, BMP10, BMP6, GDF2, TGFBR1, TGFB2
389.4TGFBR1, SMAD4, SMAD1, INHBE, BMP6, BMPR2
39
Hide members
9.3PDGFRA, BMP10, BMPR2, BMP6, ANGPT2, INHBE
40
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9.3COL5A1, PDGFRA, BMP10, BMP6, GDF2, TGFBR1
41
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9.2PDGFRA, BMP10, BMP6, GDF2, SP1, TGFBR1
42
Hide members
9.0COL5A1, PDGFRA, OR2AG1, BMPR2, VWF, SP1
43
Hide members
9.0PDGFRA, BMP10, BMPR2, BMP6, ANGPT2, GDF2
44
Hide members
8.8COL5A1, PDGFRA, BMP10, BMPR2, BMP6, ANGPT2
45
Hide members
8.8PDGFRA, BMP10, BMPR2, BMP6, ANGPT2, GDF2

Compounds for genes affiliated with Hereditary Hemorrhagic Telangiectasia

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Hereditary Hemorrhagic Telangiectasia according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1monocrotaline4510.5BMPR2, SMAD1
2ryudocan4510.4TFAP2A, SP1
3epinephrine45 11 2412.4VWF, TFAP2A
4mannose 6-phosphate45 2411.2TGFB2, TFAP2A
5losartan45 50 29 1113.1SMAD4, VWF, BMP6
6hyaluronic acid45 2411.1BMP6, VWF, ENG, TGFB2
7agar4510.1TGFB2, SMAD4, ENG, BMP6
84-hydroxytamoxifen4510.1BMP6, SP1, TGFB2
9folate4510.1PDGFRA, TFAP2A, VWF, SP1
10calcitriol45 60 11 2413.0PDGFRA, BMP6, SP1, TGFB2
11ribonucleic acid4510.0BMP6, ANGPT2, TGFBR1, TGFB2
12cyclosporin a45 29 6011.9TGFB2, VWF, ANGPT2, TFAP2A, BMP6
13biotin45 11 2411.9SP1, VWF, TFAP2A
141,25 dihydroxy vitamin d3459.9BMP6, SP1, TGFB2
15nitric oxide45 11 2411.9BMPR2, BMP6, TFAP2A, ANGPT2, VWF, SMAD4
16rapamycin459.8PDGFRA, BMP6, TFAP2A, SP1, TGFBR1
17progesterone45 60 29 11 2413.8TGFB2, TGFBR1, ENG, TFAP2A, BMP6, BMPR2
18matrigel459.8BMP6, ANGPT2, VWF, ENG, TGFBR1, TGFB2
19vitamin d459.8BMP6, TFAP2A, SP1, TGFB2
20adp45 29 2411.8PDGFRA, BMPR2, TFAP2A, VWF, ACVRL1, TGFBR1
21steroid459.8TFAP2A, ANGPT2, SP1, SMAD4, TGFBR1, TGFB2
22paraffin459.8PDGFRA, ANGPT2, VWF, ENG, SMAD4, TGFBR1
23glucose459.7TFAP2A, ANGPT2, GDF2, SMAD4, TGFBR1, TGFB2
24testosterone45 60 11 2412.7TGFB2, SMAD4, SP1, VWF, TFAP2A
25phosphatidylinositol459.7TGFB2, SP1, ANGPT2, TFAP2A, BMP6, PDGFRA
26cysteine459.7BMPR2, TFAP2A, ANGPT2, VWF, ENG, SP1
27dihydrotestosterone45 29 11 2412.6BMP6, TFAP2A, ENG, SP1, SMAD4, TGFBR1
28thymidine45 2410.6PDGFRA, BMPR2, BMP6, ANGPT2, SP1, SMAD4
29alanine459.6BMP6, TFAP2A, VWF, SP1, SMAD4, TGFBR1
30dexamethasone45 50 29 1112.6BMP6, TFAP2A, ANGPT2, ENG, SP1, TGFBR1
31pd 98,059459.6BMP6, SP1, SMAD1, SMAD4
32tgf beta1459.5TGFB2, PDGFRA, BMP6, ACVRL1, ENG, SP1
33retinoic acid45 2410.3PDGFRA, BMP6, TFAP2A, ANGPT2, VWF, SP1
34ly294002459.3TGFBR1, SP1, ANGPT2, BMP6
35threonine459.3BMPR2, BMP6, TFAP2A, ACVRL1, ENG, SP1
36oligonucleotide459.1PDGFRA, BMP6, TFAP2A, VWF, ACVRL1, ENG
37vegf459.0PDGFRA, BMP6, TFAP2A, ANGPT2, VWF, ACVRL1
38serine458.8VWF, ANGPT2, TFAP2A, BMP6, BMPR2, ACVRL1
39tyrosine458.8ANGPT2, TFAP2A, BMP6, BMPR2, PDGFRA, VWF

GO Terms for genes affiliated with Hereditary Hemorrhagic Telangiectasia

Sources:
16Gene Ontology
See all sources

Cellular components related to Hereditary Hemorrhagic Telangiectasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:0700229.9TGFBR1, ENG
2extracellular spaceGO:0056159.5TGFB2, ENG, GDF2, ANGPT2, BMP6, BMP10

Biological processes related to Hereditary Hemorrhagic Telangiectasia according to GeneCards/GeneDecks:

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1venous blood vessel developmentGO:06084110.5ACVRL1, BMPR2
2regulation of transforming growth factor beta2 productionGO:03290910.5TGFB2, SMAD4
3lymphatic endothelial cell differentiationGO:06083610.5BMPR2, ACVRL1
4negative regulation of DNA biosynthetic processGO:200027910.5BMPR2, GDF2, ACVRL1
5artery developmentGO:06084010.5BMPR2, ACVRL1
6negative regulation of blood vessel endothelial cell migrationGO:04353710.5ANGPT2, GDF2, ACVRL1
7negative regulation of endothelial cell migrationGO:01059610.5BMP10, GDF2, ACVRL1
8retina vasculature development in camera-type eyeGO:06129810.5ACVRL1, BMPR2, PDGFRA
9SMAD protein complex assemblyGO:00718310.4SMAD1, SMAD4
10activin receptor signaling pathwayGO:03292410.4GDF2, BMP10
11wound healing, spreading of epidermal cellsGO:03531310.4COL5A1, ACVRL1
12cardiac muscle cell proliferationGO:06003810.4BMP10, SMAD1, TGFB2
13positive regulation of endothelial cell differentiationGO:04560310.4ACVRL1, GDF2, BMP6
14blood vessel remodelingGO:00197410.4BMPR2, ACVRL1, TGFB2
15neuron fate commitmentGO:04866310.4TGFB2, TGFBR1, SMAD4
16face morphogenesisGO:06032510.4PDGFRA, TFAP2A, TGFB2
17lymphangiogenesisGO:00194610.3ACVRL1, BMPR2
18embryonic cranial skeleton morphogenesisGO:04870110.3PDGFRA, TFAP2A, TGFBR1
19positive regulation of SMAD protein import into nucleusGO:06039110.3TGFBR1, SMAD4
20negative regulation of endothelial cell proliferationGO:00193710.3GDF2, ACVRL1, ENG, TGFBR1
21negative regulation of cell migrationGO:03033610.3ENG, ACVRL1, BMP10
22positive regulation of bone mineralizationGO:03050110.3TFAP2A, BMP6, BMPR2
23collagen fibril organizationGO:03019910.3TGFB2, TGFBR1, COL5A1
24vasculogenesisGO:00157010.3TMEM100, ENG, GDF2
25pathway-restricted SMAD protein phosphorylationGO:06038910.3TGFB2, TGFBR1, GDF2, BMP10
26growthGO:04000710.3BMP6, GDF2, INHBE
27positive regulation of BMP signaling pathwayGO:03051310.3BMPR2, GDF2, ACVRL1, ENG, SMAD4
28response to hypoxiaGO:00166610.3ANGPT2, ENG, SMAD4, TGFB2
29palate developmentGO:06002110.2TGFBR1, SMAD4, TFAP2A, PDGFRA
30cellular response to BMP stimulusGO:07177310.2ACVRL1, SMAD1
31positive regulation of endothelial cell proliferationGO:00193810.2BMPR2, BMP6, GDF2, ACVRL1
32cartilage developmentGO:05121610.2SMAD1, GDF2, BMP6
33positive regulation of osteoblast differentiationGO:04566910.2BMPR2, BMP6, GDF2, SMAD1
34cell motilityGO:04887010.2ENG, TGFBR1
35SMAD protein signal transductionGO:06039510.1SMAD4, BMP6
36kidney developmentGO:00182210.1BMP6, TFAP2A, SMAD1, TGFBR1
37wound healingGO:04206010.1PDGFRA, ENG, SMAD1, TGFBR1, TGFB2
38negative regulation of cell growthGO:03030810.1BMP10, BMPR2, GDF2, ACVRL1, SMAD4, TGFB2
39positive regulation of epithelial cell migrationGO:01063410.1BMPR2, TGFB2
40negative regulation of cell proliferationGO:00828510.0TFAP2A, ACVRL1, SMAD1, SMAD4, TGFB2
41in utero embryonic developmentGO:00170110.0PDGFRA, ACVRL1, TMEM100, SMAD4, TGFBR1
42angiogenesisGO:00152510.0ANGPT2, ACVRL1, TMEM100, TGFBR1, TGFB2
43extracellular matrix organizationGO:0301989.9COL5A1, PDGFRA, BMP10, TGFB2
44regulation of transforming growth factor beta receptor signaling pathwayGO:0170159.9SMAD4, ENG
45positive regulation of transcription, DNA-dependentGO:0458939.8BMP10, TFAP2A, GDF2, ACVRL1, SP1, SMAD4
46transforming growth factor beta receptor signaling pathwayGO:0071799.7ACVRL1, ENG, SP1, SMAD1, SMAD4, TGFBR1
47BMP signaling pathwayGO:0305099.7BMP10, BMPR2, BMP6, GDF2, ACVRL1, ENG
48positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.7TGFBR1, BMP10, SMAD4, ENG, ACVRL1, GDF2
49positive regulation of transcription from RNA polymerase II promoterGO:0459449.6BMP6, TFAP2A, GDF2, ACVRL1, ENG, SP1

Molecular functions related to Hereditary Hemorrhagic Telangiectasia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor activity, type IGO:00502510.3ACVRL1, TGFBR1
2type II transforming growth factor beta receptor bindingGO:00511410.3TGFB2, TGFBR1, ENG
3transforming growth factor beta bindingGO:05043110.2TGFBR1, ENG, ACVRL1
4I-SMAD bindingGO:07041110.2SMAD1, SMAD4, TGFBR1
5transmembrane receptor protein serine/threonine kinase activityGO:00467510.2TGFBR1, ACVRL1
6core promoter proximal region sequence-specific DNA bindingGO:00098710.2SMAD4, TFAP2A
7receptor signaling protein serine/threonine kinase activityGO:00470210.2ACVRL1, TGFB2
8transforming growth factor beta-activated receptor activityGO:00502410.2TGFBR1, ENG, ACVRL1, BMPR2
9RNA polymerase II core promoter sequence-specific DNA bindingGO:00097910.1SMAD1, SP1, TFAP2A
10platelet-derived growth factor bindingGO:04840710.0PDGFRA, COL5A1
11cytokine activityGO:0051259.9TGFB2, GDF2, BMP6, BMP10
12activin bindingGO:0481859.9ENG, ACVRL1
13growth factor activityGO:0080839.8BMP10, BMP6, GDF2, INHBE, TGFB2
14protein homodimerization activityGO:0428039.6PDGFRA, TFAP2A, VWF, ENG, SP1, SMAD4
15metal ion bindingGO:0468729.2COL5A1, BMPR2, ANGPT2, ACVRL1, SP1, SMAD1
16protein bindingGO:0055158.1GDF2, ANGPT2, TFAP2A, BMPR2, BMP10, OR2AG1

Products for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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Sources for Hereditary Hemorrhagic Telangiectasia

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