HHT
MCID: HRD008
MIFTS: 86

Hereditary Hemorrhagic Telangiectasia (HHT) malady

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

Summaries for Hereditary Hemorrhagic Telangiectasia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 functional anomalies of the liver and the biliary tract, heart/cardiac failure and pulmonary thromboembolism. 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 liver, skin 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:63 Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and... more...

Description from OMIM:46 187300,600376,601101,610655,615506

GeneReviews summary for hht

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 60UMLS, 22GTR, 46OMIM, 44Novoseek, 56SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary hemorrhagic telangiectasia:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

hereditary hemorrhagic telangiectasia 8 63 19 42 20 21 10 48 60
hht 19 42 21 48
osler hemorrhagic telangiectasia syndrome 8 22 21
osler-weber-rendu disease 8 63 19
hereditary hemorrhagic telangiectasia type 1 42 22
rendu-osler-weber disease 8 48
telangiectasia, hereditary hemorrhagic, type 1 46
telangiectasia hereditary hemorrhagic 44
osler-rendu-weber disease 21
osler-rendu disease 21
rendu-osler disease 48
rendu-osler-weber 21
osler's disease 21
weber-osler 21
orw disease 42
hht1 42
orw1 42


External Ids:

Disease Ontology8 DOID:1270
ICD9CM27 448.0
NCIt39 C35064
ICD10 via Orphanet26 I78.0
SNOMED-CT via Orphanet57 21877004
ICD1025 I78.0

Related Diseases for Hereditary Hemorrhagic Telangiectasia

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17GeneCards, 18GeneDecks
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Diseases in the Hereditary Hemorrhagic Telangiectasia family:

Hereditary Hemorrhagic Telangiectasia Type 2 Hereditary Hemorrhagic Telangiectasia Type 3
Hereditary Hemorrhagic Telangiectasia Type 4 Smad4-Related Hereditary Hemorrhagic Telangiectasia
Acvrl1-Related Hereditary Hemorrhagic Telangiectasia Eng-Related Hereditary Hemorrhagic Telangiectasia
Telangiectasia, Hereditary Hemorrhagic, Type 5

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

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation31.5ACVRL1
2telangiectasis31.1ACVRL1, ENG
3hypertension31.0BMPR2
4pancreatitis30.8SMAD4
5angiodysplasia30.6VWF, ACVRL1, ENG
6leiomyosarcoma30.5PDGFRA, ACVRL1
7melanoma30.5PDGFRA, BMP6, TFAP2A, ANGPT2, ENG, SP1
8vascular disease30.4VWF, ANGPT2
9myocardial infarction30.4VWF, ENG, SP1
10colorectal cancer30.4TFAP2A, ANGPT2, ENG, SP1, SMAD4, TGFB2
11leukemia30.4PDGFRA, BMPR2, BMP6, ANGPT2, ENG, SP1
12ischemia30.2TGFB2, TGFBR1, ENG, ANGPT2
13hepatitis10.9
14hemorrhagic disease10.9
15cerebritis10.6
16pulmonary embolism10.6
17arteriovenous fistula10.5
18hepatitis a10.5
19liver disease10.5
20juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.5
21juvenile polyposis syndrome10.4
22coronary artery disease10.4
23filamentary keratitis10.4
24epithelioid leiomyosarcoma10.4
25coronary stenosis10.4
26disseminated intravascular coagulation10.4
27keratitis10.4
28orbital disease10.4
29osteomyelitis10.4
30portal hypertension10.4
31hereditary hemorrhagic telangiectasia type 210.4
32hereditary hemorrhagic telangiectasia type 310.4
33eng-related hereditary hemorrhagic telangiectasia10.4
34gingival overgrowth10.3
35gingivitis10.3
36deficiency anemia10.3
37iron deficiency anemia10.3
38calcinosis10.3
39conjunctivitis10.3
40hereditary hemorrhagic telangiectasia type 410.3
41smad4-related hereditary hemorrhagic telangiectasia10.3
42acvrl1-related hereditary hemorrhagic telangiectasia10.3
43pseudoxanthoma elasticum10.2
44angina pectoris10.1
45crohn's disease10.1
46root resorption10.1
47antiphospholipid syndrome10.1
48hepatitis c10.1
49choroiditis10.1
50von willebrand's disease10.1

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



Diseases related to hereditary hemorrhagic telangiectasia

Clinical Features for Hereditary Hemorrhagic Telangiectasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

187300,600376,601101,610655,615506

Clinical synopsis from OMIM:

187300

Symptoms:

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

Drugs & Therapeutics for Hereditary Hemorrhagic Telangiectasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

32
Liver, Skin, Brain, Lung, Heart, Endothelial, Testes, Colon, Kidney, Bone, Eye, Appendix, Monocytes

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

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36MGI
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Publications for Hereditary Hemorrhagic Telangiectasia

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50PubMed
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Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Improved survival outcomes in cancer patients with hereditary hemorrhagic telangiectasia. (24192008)
2014
2
Successful treatment of thalidomide for recurrent bleeding due to gastric angiodysplasia in hereditary hemorrhagic telangiectasia. (23661527)
2013
3
Hereditary hemorrhagic telangiectasia in Japanese patients. (24196379)
2013
4
Actinomycotic brain abscess as the first clinical manifestation of hereditary hemorrhagic telangiectasia--case report and review of the literature. (23274357)
2013
5
Systemic therapy with bevacizumab in patients with hereditary hemorrhagic telangiectasia (HHT). (23485837)
2013
6
Management of patients with hereditary hemorrhagic telangiectasia undergoing general anesthesia: a cohort from a single academic center's experience. (23558470)
2013
7
Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia. (22727716)
2013
8
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. (22810475)
2012
9
Hepatic and pancreatic involvement in hereditary hemorrhagic telangiectasia: quantitative and qualitative evaluation with 64-section CT in asymptomatic adult patients. (21861188)
2012
10
Hereditary hemorrhagic telangiectasia patients can tolerate anticoagulation. (23053175)
2012
11
Ruptured large basilar artery aneurysm associated with an arteriovenous malformation in hereditary hemorrhagic telangiectasia. (22850500)
2012
12
Bilateral lung transplant for hereditary hemorrhagic telangiectasia in a pediatric patient. (22616824)
2012
13
Topical timolol for the treatment of epistaxis in hereditary hemorrhagic telangiectasia. (22079094)
2012
14
Efficacy of intranasal Bevacizumab (Avastin) treatment in patients with hereditary hemorrhagic telangiectasia-associated epistaxis. (21344445)
2011
15
Efficiency of laser treatment in patients with hereditary hemorrhagic telangiectasia. (21706320)
2011
16
Occlusion of pulmonary arteriovenous malformations using the Amplatzer vascular plug/duct occluder for a family with hereditary hemorrhagic telangiectasia. (21822707)
2011
17
Hereditary hemorrhagic telangiectasia/avastin. (19998344)
2010
18
Lobar embolization for treatment of diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a case report. (20537912)
2010
19
Fatal hypoxic hepatitis in a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber's disease). (20458853)
2010
20
Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations - embolization with Amplatzer vascular plug. (19280079)
2009
21
Percutaneous embolization on hereditary hemorrhagic telangiectasia patients with severe epistaxis. (19593974)
2009
22
Hepatic vascular malformations in hereditary hemorrhagic telangiectasia. (18814078)
2008
23
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. (18285823)
2008
24
MR angiography for detection of pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. (18356434)
2008
25
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. (18792970)
2008
26
Septectomy and septal dermoplasty for the treatment of severe transfusion-dependent epistaxis in patients with hereditary hemorrhagic telangiectasia and septal perforation. (17621815)
2007
27
Spectrum of biliary abnormalities in hepatic hereditary hemorrhagic telangiectasia: demonstration by multidetector computed tomography. (17453259)
2007
28
Hereditary hemorrhagic telangiectasia. (17976356)
2007
29
What is your diagnosis? Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (17944166)
2007
30
Acute visual loss as the presenting complaint of hereditary hemorrhagic telangiectasia. (17090798)
2006
31
Magnetic resonance (MR) imaging and MR angiography for evaluation and follow-up of hepatic artery banding in patients with hepatic involvement of hereditary hemorrhagic telangiectasia. (16465571)
2006
32
Interventional embolization of a giant pulmonary arteriovenous malformation with right-left-shunt associated with hereditary hemorrhagic telangiectasia. (16598531)
2006
33
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. (16752392)
2006
34
A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2. (16861286)
2006
35
SIR 2006 film panel case: "Caroli's variant" hereditary hemorrhagic telangiectasia of the liver. (16868159)
2006
36
Hepatic hereditary hemorrhagic telangiectasia. (16730239)
2006
37
Liver transplantation for cardiac failure in patients with hereditary hemorrhagic telangiectasia. (15973723)
2005
38
Hereditary hemorrhagic telangiectasia]. (15860174)
2005
39
Brain abscess as the first clinical manifestation of multiple pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). (15827889)
2005
40
Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic telangiectasia (HHT) as assessed by color doppler sonography. (15779017)
2005
41
Outcome of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia. (15689755)
2005
42
The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: a diagnostic study. (14685882)
2004
43
Mutation 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)
2004
44
Gastrointestinal: hereditary hemorrhagic telangiectasia. (12702055)
2003
45
Hereditary hemorrhagic telangiectasia, factor V Leiden and antiphospholipid syndrome: a case report. (11994568)
2002
46
Radiological case of the month. Cerebral air embolism in hereditary hemorrhagic telangiectasia. (Osler-Weber-Rendu disease). (11434856)
2001
47
Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. (10871005)
2000
48
Dental precautions for families with HHT. Hereditary Hemorrhagic Telangiectasia. (10803138)
1999
49
Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. (10694922)
1998
50
Endoscopic appearance of gastric angiodysplasia in hereditary hemorrhagic telangiectasia. (6967258)
1980

Genetic Variations for Hereditary Hemorrhagic Telangiectasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

62 (show all 33)
id Symbol AA change Variation ID 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
15ENGp.Ala11AspVAR_070279
16ENGp.Val105AspVAR_070280
17ENGp.Ala175GluVAR_070282
18ENGp.Ile220ThrVAR_070285
19ENGp.Leu221GlnVAR_070286
20ENGp.Val238GluVAR_070288
21ENGp.Ile263SerVAR_070289
22ENGp.Met269ArgVAR_070290
23ENGp.Ala308AspVAR_070291
24ENGp.Cys363SerVAR_070293
25ENGp.Cys394TyrVAR_070295
26ENGp.Arg437TrpVAR_070297
27ENGp.Leu490SerVAR_070298
28ENGp.Arg529HisVAR_070299
29ENGp.Arg529ProVAR_070300
30ENGp.Gly545AspVAR_070301
31ENGp.Leu547ProVAR_070303
32ENGp.Gly603ArgVAR_070306
33ENGp.Ala604AspVAR_070307

Expression for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
37NCBI BioSystems Database, 29KEGG, 51QIAGEN, 52R&D Systems, 12EMD Millipore, 53Reactome, 4Cell Signaling Technology, 55SinoBiological
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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
Hide members
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
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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
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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

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Hereditary Hemorrhagic Telangiectasia according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1monocrotaline4410.5BMPR2, SMAD1
2ryudocan4410.4TFAP2A, SP1
3epinephrine44 11 2412.4VWF, TFAP2A
4mannose 6-phosphate44 2411.2TGFB2, TFAP2A
5losartan44 49 28 1113.1SMAD4, VWF, BMP6
6hyaluronic acid44 2411.1BMP6, VWF, ENG, TGFB2
7agar4410.1TGFB2, SMAD4, ENG, BMP6
84-hydroxytamoxifen4410.1BMP6, SP1, TGFB2
9folate4410.1PDGFRA, TFAP2A, VWF, SP1
10calcitriol44 59 11 2413.0PDGFRA, BMP6, SP1, TGFB2
11ribonucleic acid4410.0BMP6, ANGPT2, TGFBR1, TGFB2
12cyclosporin a44 28 5911.9TGFB2, VWF, ANGPT2, TFAP2A, BMP6
13biotin44 11 2411.9SP1, VWF, TFAP2A
141,25 dihydroxy vitamin d3449.9BMP6, SP1, TGFB2
15nitric oxide44 11 2411.9BMPR2, BMP6, TFAP2A, ANGPT2, VWF, SMAD4
16rapamycin449.8PDGFRA, BMP6, TFAP2A, SP1, TGFBR1
17progesterone44 59 28 11 2413.8TGFB2, TGFBR1, ENG, TFAP2A, BMP6, BMPR2
18matrigel449.8BMP6, ANGPT2, VWF, ENG, TGFBR1, TGFB2
19vitamin d449.8BMP6, TFAP2A, SP1, TGFB2
20adp44 28 2411.8PDGFRA, BMPR2, TFAP2A, VWF, ACVRL1, TGFBR1
21steroid449.8TFAP2A, ANGPT2, SP1, SMAD4, TGFBR1, TGFB2
22paraffin449.8PDGFRA, ANGPT2, VWF, ENG, SMAD4, TGFBR1
23glucose449.7TFAP2A, ANGPT2, GDF2, SMAD4, TGFBR1, TGFB2
24testosterone44 59 11 2412.7TGFB2, SMAD4, SP1, VWF, TFAP2A
25phosphatidylinositol449.7TGFB2, SP1, ANGPT2, TFAP2A, BMP6, PDGFRA
26cysteine449.7BMPR2, TFAP2A, ANGPT2, VWF, ENG, SP1
27dihydrotestosterone44 28 11 2412.6BMP6, TFAP2A, ENG, SP1, SMAD4, TGFBR1
28thymidine44 2410.6PDGFRA, BMPR2, BMP6, ANGPT2, SP1, SMAD4
29alanine449.6BMP6, TFAP2A, VWF, SP1, SMAD4, TGFBR1
30dexamethasone44 49 28 1112.6BMP6, TFAP2A, ANGPT2, ENG, SP1, TGFBR1
31pd 98,059449.6BMP6, SP1, SMAD1, SMAD4
32tgf beta1449.5TGFB2, PDGFRA, BMP6, ACVRL1, ENG, SP1
33retinoic acid44 2410.3PDGFRA, BMP6, TFAP2A, ANGPT2, VWF, SP1
34ly294002449.3TGFBR1, SP1, ANGPT2, BMP6
35threonine449.3BMPR2, BMP6, TFAP2A, ACVRL1, ENG, SP1
36oligonucleotide449.1PDGFRA, BMP6, TFAP2A, VWF, ACVRL1, ENG
37vegf449.0PDGFRA, BMP6, TFAP2A, ANGPT2, VWF, ACVRL1
38serine448.8VWF, ANGPT2, TFAP2A, BMP6, BMPR2, ACVRL1
39tyrosine448.8ANGPT2, TFAP2A, BMP6, BMPR2, PDGFRA, VWF

GO Terms for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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16Gene Ontology
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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet