HHT
MCID: HRD008
MIFTS: 73

Hereditary Hemorrhagic Telangiectasia (HHT) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Hereditary Hemorrhagic Telangiectasia

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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 based summary: Hereditary Hemorrhagic Telangiectasia, also known as osler hemorrhagic telangiectasia syndrome, is related to arteriovenous malformation and telangiectasis, and has symptoms including An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (endoglin), and among its related pathways are HIF-1-alpha transcription factor network and TGF Beta Signaling Pathway. The compounds dihydrotestosterone and tgf beta1 have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and lung, and related mouse phenotypes are normal 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:65 Hereditary hemorrhagic telangiectasia (HHT), also known as Osler?Weber?Rendu disease and... more...

Descriptions from OMIM:46 187300,600376

GeneReviews summary for hht

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

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Hereditary Hemorrhagic Telangiectasia, Aliases & Descriptions:

Name: Hereditary Hemorrhagic Telangiectasia 30 8 65 19 42 20 21 10 62
Osler Hemorrhagic Telangiectasia Syndrome 8 22 21
Osler-Weber-Rendu Disease 8 65 19
Hht 19 42 21
Telangiectasia Hereditary Hemorrhagic Type 1 42 22
Osler-Rendu-Weber Disease 42 21
Weber-Osler 21 62
Telangiectasia, Hereditary Hemorrhagic, Type 1 46
Hereditary Hemorrhagic Telangiectasia Type 1 42
Osler Haemorrhagic Telangiectasia Syndrome 62
Telangiectasia Hereditary Hemorrhagic 44
 
Osler Weber Rendu Syndrome Type 1 42
Osler-Weber-Rendu Syndrome 62
Osler Weber Rendu Syndrome 42
Rendu-Osler-Weber Disease 8
Osler-Rendu Disease 21
Rendu-Osler-Weber 21
Osler's Disease 21
Orw Disease 42
Hht1 42
Orw1 42


Classifications:



External Ids:

Disease Ontology8 DOID:1270
ICD9CM27 448.0
NCIt39 C35064

Related Diseases for Hereditary Hemorrhagic Telangiectasia

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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 108)
idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation32.3ACVRL1
2telangiectasis31.5ENG, ACVRL1
3juvenile polyposis syndrome31.2SMAD4
4telangiectasia, hereditary hemorrhagic, type 531.1ENG, ACVRL1
5angiodysplasia31.1ENG, ACVRL1
6colorectal cancer30.0TFAP2A, SMAD4, ANGPT2, ENG
7hepatitis11.0
8pulmonary arteriovenous malformation11.0
9hypertension10.8
10cerebritis10.7
11aneurysm10.7
12hereditary hemorrhagic telangiectasia type 210.7
13pancreatitis10.6
14juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.6
15endotheliitis10.6
16arteriovenous fistula10.6
17pulmonary hypertension10.5
18weber syndrome10.5
19epithelioid leiomyosarcoma10.4
20filamentary keratitis10.4
21disseminated intravascular coagulation10.4
22keratitis10.4
23leiomyosarcoma10.4
24osteomyelitis10.4
25coronary artery aneurysm10.4
26splenomegaly10.4
27liver disease10.4
28portal hypertension10.4
29hereditary hemorrhagic telangiectasia type 310.4
30gingival overgrowth10.4
31gingivitis10.4
32melanoma10.4
33deficiency anemia10.3
34leukemia10.3
35myocardial infarction10.3
36iron deficiency anemia10.3
37calcinosis10.3
38conjunctivitis10.3
39hereditary hemorrhagic telangiectasia type 410.3
40smad4-related hereditary hemorrhagic telangiectasia10.3
41acvrl1-related hereditary hemorrhagic telangiectasia10.3
42eng-related hereditary hemorrhagic telangiectasia10.3
43blindness10.3
44intracranial hemorrhage in brain cerebrovascular malformations10.2ACVRL1, ENG
45uveal melanoma10.2ENG, SMAD4
46embryonal rhabdomyosarcoma10.2ACVRL1, SMAD4
47seminoma10.2SMAD4, TFAP2A
48angina pectoris10.2
49acute lymphoblastic leukemia10.2
50chronic lymphocytic leukemia10.2

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



Diseases related to hereditary hemorrhagic telangiectasia

Symptoms for Hereditary Hemorrhagic Telangiectasia

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Symptoms by clinical synopsis from OMIM:

187300

Clinical features from OMIM:

187300,600376

HPO human phenotypes related to Hereditary Hemorrhagic Telangiectasia:

(show all 39)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 lip telangiectasia HP:0000214
3 tongue telangiectasia HP:0000227
4 nasal mucosa telangiectasia HP:0000434
5 gastrointestinal angiodysplasia HP:0000471
6 conjunctival telangiectasia HP:0000524
7 cyanosis HP:0000961
8 clubbing HP:0001217
9 nail bed telangiectasia HP:0001232
10 seizures HP:0001250
11 cerebral hemorrhage HP:0001342
12 cirrhosis HP:0001394
13 heterogeneous HP:0001425
14 right-to-left shunt HP:0001694
15 high-output congestive heart failure HP:0001722
16 polycythemia HP:0001901
17 anemia HP:0001903
18 migraine HP:0002076
19 dyspnea HP:0002094
20 subarachnoid hemorrhage HP:0002138
21 ischemic stroke HP:0002140
22 hematemesis HP:0002248
23 melena HP:0002249
24 transient ischemic attack HP:0002326
25 spinal arteriovenous malformation HP:0002390
26 cerebral arteriovenous malformation HP:0002408
27 hematochezia HP:0002573
28 gastrointestinal telangiectasia HP:0002604
29 venous varicosities of celiac and mesenteric vessels HP:0002626
30 gastrointestinal arteriovenous malformation HP:0002629
31 arteriovenous fistulas of celiac and mesenteric vessels HP:0002642
32 palate telangiectasia HP:0002707
33 spontaneous, recurrent epistaxis HP:0004406
34 fingerpad telangiectases HP:0006107
35 pulmonary arteriovenous malformation HP:0006548
36 hepatic arteriovenous malformation HP:0006574
37 mesenteric artery aneurysm HP:0011934
38 brain abscess HP:0030049
39 celiac artery aneurysm HP:0100858

Drugs & Therapeutics for Hereditary Hemorrhagic Telangiectasia

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Drug clinical trials:

Search ClinicalTrials for Hereditary Hemorrhagic Telangiectasia

Search NIH Clinical Center for Hereditary Hemorrhagic Telangiectasia

Genetic Tests for Hereditary Hemorrhagic Telangiectasia

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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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MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

32
Liver, Brain, Lung, Skin, Endothelial, Testes, Heart, Colon, Monocytes, 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

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MGI Mouse Phenotypes related to Hereditary Hemorrhagic Telangiectasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.6ENG, ACVRL1, SMAD4, TFAP2A
2MP:00053698.6ENG, BMP10, ACVRL1, SMAD4
3MP:00053808.3TFAP2A, SMAD4, ACVRL1, ENG
4MP:00053888.3ENG, ACVRL1, ANGPT2, TFAP2A
5MP:00053818.3TFAP2A, SMAD4, ANGPT2, ACVRL1
6MP:00107718.2TFAP2A, SMAD4, ANGPT2, ENG
7MP:00107687.4TFAP2A, SMAD4, ANGPT2, ACVRL1, BMP10, ENG
8MP:00053856.9ENG, GDF2, TFAP2A, SMAD4, ANGPT2, ACVRL1

Publications for Hereditary Hemorrhagic Telangiectasia

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Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50)    (show all 531)
idTitleAuthorsYear
1
High prevalence of arterial aneurysms in hereditary hemorrhagic telangiectasia. (25150474)
2014
2
Treatment of epistaxis in hereditary hemorrhagic telangiectasia with tranexamic acid - a double-blind placebo-controlled cross-over phase IIIB study. (25005464)
2014
3
Treatment of the skin manifestations of hereditary hemorrhagic telangiectasia with pulsed dye laser. (23681198)
2014
4
A giant pulmonary arteriovenous malformation without hereditary hemorrhagic telangiectasia: successful interventional embolization using a PDA occluder. (24627323)
2014
5
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability. (25081192)
2014
6
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
7
Liver Resection in Patients with Hepatic Hereditary Hemorrhagic Telangiectasia. (24217369)
2013
8
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. (24080277)
2013
9
Successful treatment of thalidomide for recurrent bleeding due to gastric angiodysplasia in hereditary hemorrhagic telangiectasia. (23661527)
2013
10
Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation. (23794345)
2013
11
High prevalence of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. (23246127)
2013
12
Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboli. (23707042)
2013
13
The intersection of genes and environment: development of pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and stimulant exposure. (22670022)
2012
14
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. (22810475)
2012
15
Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. (22656258)
2012
16
Long-term therapy with thalidomide in hereditary hemorrhagic telangiectasia: case report and literature review. (22031620)
2012
17
Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia. (22281938)
2012
18
Symptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasia. (21536610)
2011
19
Low dose of bevacizumab is safe and effective in preventing bleeding episodes in hereditary hemorrhagic telangiectasia. (22138950)
2011
20
Unsuspected polymicrobial brain abscess arising from an intra-abdominal source in a patient with hereditary hemorrhagic telangiectasia. (20622729)
2010
21
Hereditary hemorrhagic telangiectasia in a patient with microscopic polyangiitis. (19640374)
2009
22
Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia. (19330398)
2009
23
Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia. (18855162)
2009
24
More on bevacizumab in hereditary hemorrhagic telangiectasia. (19714790)
2009
25
Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. (19364795)
2009
26
Anesthetic management of a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Case report. (19374218)
2009
27
Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia. (19805914)
2009
28
Antiestrogen therapy for hereditary hemorrhagic telangiectasia: a double-blind placebo-controlled clinical trial. (19160429)
2009
29
Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: in search of predictors of significant disease. (18972437)
2008
30
Hereditary hemorrhagic telangiectasia: from epistaxis to life-threatening GI bleeding. (17724405)
2007
31
Septectomy and septal dermoplasty for the treatment of severe transfusion-dependent epistaxis in patients with hereditary hemorrhagic telangiectasia and septal perforation. (17621815)
2007
32
Hereditary hemorrhagic telangiectasia: a new surgical approach. (17505615)
2007
33
Hereditary hemorrhagic telangiectasia and psychopathology. (17431074)
2007
34
Analysis of angiogenesis related proteins and its implication in type-2 hereditary hemorrhagic telangiectasia]. (17278429)
2006
35
Liver involvement in hereditary hemorrhagic telangiectasia: CT and clinical findings do not correlate in symptomatic patients. (16985112)
2006
36
Acute visual loss as the presenting complaint of hereditary hemorrhagic telangiectasia. (17090798)
2006
37
Ablation of T-helper 1 cell derived cytokines and of monocyte-derived tumor necrosis factor-alpha in hereditary hemorrhagic telangiectasia: immunological consequences and clinical considerations. (16611101)
2006
38
Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry. (17122610)
2006
39
Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway. (16595794)
2006
40
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
41
Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression. (15951295)
2005
42
The effect of treatment for epistaxis secondary to hereditary hemorrhagic telangiectasia. (15794079)
2005
43
Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations: results in 31 patients. (16163493)
2005
44
Hereditary hemorrhagic telangiectasia. (16403391)
2005
45
Embolization of a duodenal arteriovenous malformation in hereditary hemorrhagic telangiectasia: case report and review of the literature. (14631462)
2003
46
Liver disease in hereditary hemorrhagic telangiectasia. (12544200)
2003
47
Gastrointestinal: hereditary hemorrhagic telangiectasia. (12702055)
2003
48
Clinical diagnosis: Intrahepatic arteriovenous fistula associated with hereditary hemorrhagic telangiectasia. (12508841)
2002
49
Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). (10992384)
2000
50
Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. (10794291)
2000

Variations for Hereditary Hemorrhagic Telangiectasia

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

64 (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

Clinvar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

6
id Gene Name Type Significance SNP ID Assembly Location
1ENGNM_000118.3(ENG): c.831C> G (p.Tyr277Ter)single nucleotide variantPathogenicrs121918400GRCh37Chr 9, 130587239: 130587239
2ENGNM_000118.3(ENG): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs267606783GRCh37Chr 9, 130616633: 130616633
3ENGNM_000118.3(ENG): c.1238G> T (p.Gly413Val)single nucleotide variantPathogenicrs121918401GRCh37Chr 9, 130582213: 130582213
4ENGNM_000118.3(ENG): c.360C> A (p.Tyr120Ter)single nucleotide variantPathogenicrs121918402GRCh37Chr 9, 130591966: 130591966

Expression for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SMAD4, ENG
29.7ENG, SMAD4
39.7ENG, SMAD4
49.5ACVRL1, SMAD4
59.4SMAD4, BMP10
69.3ENG, ANGPT2
79.2SMAD4, ACVRL1, ENG
89.2ENG, ACVRL1, SMAD4
9
Show member pathways
ALK1 pathway37
9.1ACVRL1, SMAD4, GDF2
10
Show member pathways
8.6BMP10, ANGPT2, GDF2
118.5ENG, BMP10, ACVRL1, SMAD4
12
Show member pathways
8.5BMP10, ACVRL1, ANGPT2
13
Show member pathways
8.1GDF2, ANGPT2, ACVRL1, BMP10
14
Show member pathways
8.1GDF2, ANGPT2, ACVRL1, BMP10
15
Show member pathways
8.1GDF2, ANGPT2, ACVRL1, BMP10

Compounds for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

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

(show all 13)
idCompoundScoreTop Affiliating Genes
1dihydrotestosterone44 28 24 1112.4TFAP2A, SMAD4, ENG
2tgf beta1449.4ENG, ACVRL1, SMAD4
3paraffin448.9ENG, ANGPT2, SMAD4
4oligonucleotide448.9ENG, ACVRL1, SMAD4, TFAP2A
5threonine448.8TFAP2A, SMAD4, ACVRL1, ENG
6nitric oxide44 24 1110.7ANGPT2, SMAD4, TFAP2A
7steroid448.6ANGPT2, SMAD4, TFAP2A
8estrogen448.5TFAP2A, SMAD4, ANGPT2, ENG
9dexamethasone44 50 28 1111.5TFAP2A, ANGPT2, ENG
10glucose448.4GDF2, TFAP2A, SMAD4, ANGPT2
11tyrosine448.3TFAP2A, SMAD4, ANGPT2, ENG
12vegf448.1ENG, ACVRL1, ANGPT2, SMAD4, TFAP2A
13serine448.0TFAP2A, SMAD4, ANGPT2, ACVRL1, ENG

GO Terms for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.0ENG, BMP10, ACVRL1
2extracellular spaceGO:0056157.9ENG, BMP10, ANGPT2, GDF2

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1response to transforming growth factor betaGO:07155910.0SMAD4, ENG
2regulation of transforming growth factor beta receptor signaling pathwayGO:0170159.9ENG, SMAD4
3patterning of blood vesselsGO:0015699.8ENG, GDF2
4negative regulation of DNA biosynthetic processGO:20002799.8GDF2, ACVRL1
5positive regulation of endothelial cell differentiationGO:0456039.8GDF2, ACVRL1
6vasculogenesisGO:0015709.8ENG, GDF2
7pathway-restricted SMAD protein phosphorylationGO:0603899.7BMP10, GDF2
8positive regulation of gene expressionGO:0106289.6ENG, TFAP2A
9positive regulation of endothelial cell proliferationGO:0019389.6GDF2, ACVRL1
10palate developmentGO:0600219.5SMAD4, TFAP2A
11transforming growth factor beta receptor signaling pathwayGO:0071799.5ENG, ACVRL1, SMAD4
12negative regulation of endothelial cell proliferationGO:0019379.5ENG, ACVRL1, GDF2
13negative regulation of angiogenesisGO:0165259.3ANGPT2, GDF2
14negative regulation of cell migrationGO:0303369.3ENG, BMP10, ACVRL1
15activin receptor signaling pathwayGO:0329249.2GDF2, ACVRL1, BMP10
16negative regulation of endothelial cell migrationGO:0105969.2GDF2, ACVRL1, BMP10
17negative regulation of cell proliferationGO:0082859.2TFAP2A, SMAD4, ACVRL1
18response to hypoxiaGO:0016669.1ENG, ANGPT2, SMAD4
19positive regulation of BMP signaling pathwayGO:0305139.1GDF2, SMAD4, ACVRL1, ENG
20negative regulation of transcription from RNA polymerase II promoterGO:0001229.1TFAP2A, SMAD4, ENG
21negative regulation of blood vessel endothelial cell migrationGO:0435379.0ACVRL1, ANGPT2, GDF2
22positive regulation of angiogenesisGO:0457668.9ANGPT2, GDF2
23angiogenesisGO:0015258.9GDF2, ANGPT2, ACVRL1
24negative regulation of cell growthGO:0303088.8BMP10, ACVRL1, SMAD4, GDF2
25positive regulation of transcription from RNA polymerase II promoterGO:0459448.5GDF2, TFAP2A, SMAD4, ACVRL1, ENG
26positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108628.5ENG, BMP10, ACVRL1, SMAD4, GDF2
27BMP signaling pathwayGO:0305098.5GDF2, SMAD4, ACVRL1, BMP10, ENG
28positive regulation of transcription, DNA-templatedGO:0458938.3GDF2, TFAP2A, SMAD4, ACVRL1, BMP10

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

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:0481859.6ENG, ACVRL1
2transforming growth factor beta-activated receptor activityGO:0050249.6ACVRL1, ENG
3core promoter proximal region sequence-specific DNA bindingGO:0009879.4TFAP2A, SMAD4
4transforming growth factor beta bindingGO:0504319.3ENG, ACVRL1
5protein homodimerization activityGO:0428039.2ENG, SMAD4, TFAP2A
6protein bindingGO:0055156.9ENG, GDF2, TFAP2A, SMAD4, ANGPT2, ACVRL1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet