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 telangiectasiae of the skin, cerebral vascular anomalies and polyposis of the bowel/colon/intestine. 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, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 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)
  • telangiectasiae of the 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
  • visceral angiomatosis (excluding skin)
  • conjunctival telangiectasia
  • cirrhosis
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • telangiectasiae of mucosae
  • heart/cardiac failure
  • cavernous/tuberous hemangioma
  • hepatocellular liver disease/hepatic failure
  • portal hypertension
  • visual loss/blindness/amblyopia
  • autosomal dominant inheritance
  • pulmonary hypertension
  • hematuria/microhematuria
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • retinal vascular anomalies/retinal telangiectasia
  • hematomas
  • pulmonary thromboembolism
  • functional anomalies of the liver and the biliary tract
  • transient cerebral ischemia/stroke
  • facial pain/cephalalgia/migraine
  • venous thrombosis/phlebitis/thrombophlebitis
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • microcytic anemia
  • seizures/epilepsy/absences/spasms/status epilepticus

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, Bone, Eye, Kidney, 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
Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboli. (23707042)
2013
2
Hypogonadotropic hypogonadism associated with hereditary hemorrhagic telangiectasia [corrected]. (23710379)
2013
3
Antiplatelet and anticoagulant agents in hereditary hemorrhagic telangiectasia. (23445111)
2013
4
Lifestyle and dietary influences on nosebleed severity in hereditary hemorrhagic telangiectasia. (23404156)
2013
5
Bevacizumab as rescue treatment for severe recurrent gastrointestinal bleeding in hereditary hemorrhagic telangiectasia. (23164683)
2013
6
MiR-205 is downregulated in hereditary hemorrhagic telangiectasia and impairs TGF-beta signaling pathways in endothelial cells. (23800974)
2013
7
Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. (22656258)
2012
8
Liver involvement in hereditary hemorrhagic telangiectasia: can breath test unmask impaired hepatic first-pass effect? (21305365)
2012
9
Does hereditary hemorrhagic telangiectasia affect olfactory or gustatory function? (23232196)
2012
10
Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes. (22711524)
2012
11
Two cases of high output heart failure caused by hereditary hemorrhagic telangiectasia. (23323127)
2012
12
Oxidative stress contributes to endothelial dysfunction in mouse models of hereditary hemorrhagic telangiectasia. (23320130)
2012
13
Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment. (22034007)
2012
14
Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia. (21637104)
2011
15
Long-term therapy with bevacizumab in hereditary hemorrhagic telangiectasia. (21323562)
2011
16
Stroke in hereditary hemorrhagic telangiectasia patients. New evidence for repeated screening and early treatment of pulmonary vascular malformations: two case reports. (21740592)
2011
17
Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. (19364795)
2009
18
Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia. (19805914)
2009
19
Embolization for pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia: a decision analysis. (19376841)
2009
20
Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis. (19364794)
2009
21
Anti-estrogenic agents might be more favorable option for treatment of hereditary hemorrhagic telangiectasia. (19041190)
2009
22
Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia. (19020899)
2009
23
Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: in search of predictors of significant disease. (18972437)
2008
24
Treatment of high output cardiac failure by flow-adapted hepatic artery banding (FHAB) in patients with hereditary hemorrhagic telangiectasia. (18027057)
2008
25
Doppler ultrasonography for the diagnosis of liver vascular malformations in hereditary hemorrhagic telangiectasia. (18674842)
2008
26
ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2. (17911384)
2008
27
Hereditary-hemorrhagic telangiectasia: one-step magnetic resonance examination in evaluation of liver involvement. (18757148)
2008
28
Use of the microdebrider in selective excision of hereditary hemorrhagic telangiectasia: a new approach. (17599584)
2007
29
Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. (17220751)
2007
30
Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia. (17420163)
2007
31
Treatment of multiple arteriovenous malformations in pediatric patients with hereditary hemorrhagic telangiectasia and spontaneous hemorrhage. Report of two cases. (18154019)
2007
32
The role of liver transplantation in the treatment of hereditary hemorrhagic telangiectasia: a short literature review. (17692689)
2007
33
Images in cardiovascular medicine. Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous fistulas. (16847157)
2006
34
Dramatic improvement in hereditary hemorrhagic telangiectasia after treatment with the vascular endothelial growth factor (VEGF) antagonist bevacizumab. (16807748)
2006
35
Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures. (16703249)
2006
36
Nasal dermoplasty for Japanese hereditary hemorrhagic telangiectasia. (16707240)
2006
37
Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents. (15976991)
2006
38
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. (16969873)
2006
39
Angiogenesis in hereditary hemorrhagic telangiectasia: VEGF165 plasma concentration in correlation to the VEGF expression and microvessel density. (15583822)
2005
40
Hormonal and antihormonal therapy for epistaxis in hereditary hemorrhagic telangiectasia. (15064628)
2004
41
Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: a capsule-endoscopic study. (15578297)
2004
42
Orthotopic liver transplantation and hereditary hemorrhagic telangiectasia: do hepatic vascular malformations relapse? A long term follow up study on two patients. (15464255)
2004
43
SIR 2004 Film Panel Case: hereditary hemorrhagic telangiectasia of the liver with mesenteric steal. (15590791)
2004
44
Pulmonary capillary hemangiomatosis arising in hereditary hemorrhagic telangiectasia. (14991548)
2004
45
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. (12673790)
2003
46
Hereditary hemorrhagic telangiectasia with juvenile polyposis--coincidence or linked autosomal dominant inheritance? (10413846)
1999
47
Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: treatment with embolization. (10580978)
1999
48
A treatment algorithm for the management of epistaxis in hereditary hemorrhagic telangiectasia. (10485021)
1999
49
A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. (8717052)
1995
50
Transcranial Doppler ultrasonography and transesophageal echocardiography in the investigation of pulmonary arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia presenting with stroke. (7570752)
1995

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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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
Hide members
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
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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
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40NDF-RT
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51QIAGEN
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