MCID: HRD008
MIFTS: 79

Hereditary Hemorrhagic Telangiectasia malady

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

Summaries for Hereditary Hemorrhagic Telangiectasia

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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 based summary: Hereditary Hemorrhagic Telangiectasia, also known as hht, is related to arteriovenous malformation and cerebral arteriovenous malformation, and has symptoms including epistaxis, teleangiectasia of the skin and cavernous hemangioma. 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 p005 and agar have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and brain, and related mouse phenotypes are craniofacial and integument.

Disease Ontology:10 An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.

Genetics Home Reference:23 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...

GeneReviews summary for hht

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 65Wikipedia, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 29ICD9CM, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hereditary Hemorrhagic Telangiectasia, Aliases & Descriptions:

Name: Hereditary Hemorrhagic Telangiectasia 32 10 65 21 43 22 23 12 49 62
Hht 21 43 23 49
Osler Hemorrhagic Telangiectasia Syndrome 10 23 24
Osler-Weber-Rendu Disease 10 65 21
Telangiectasia Hereditary Hemorrhagic Type 1 43 24
Osler-Rendu-Weber Disease 43 23
Rendu-Osler-Weber Disease 10 49
Weber-Osler 23 62
Hereditary Hemorrhagic Telangiectasia Type 1 43
Osler Haemorrhagic Telangiectasia Syndrome 62
Telangiectasia Hereditary Hemorrhagic 45
 
Osler Weber Rendu Syndrome Type 1 43
Osler-Weber-Rendu Syndrome 62
Osler Weber Rendu Syndrome 43
Osler-Rendu Disease 23
Rendu-Osler Disease 49
Rendu-Osler-Weber 23
Osler's Disease 23
Orw Disease 43
Hht1 43
Orw1 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
hereditary hemorrhagic telangiectasia:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:1270
NCIt40 C35064
ICD9CM29 448.0
Orphanet49 774
ICD10 via Orphanet28 I78.0
UMLS via Orphanet63 C0039445

Related Diseases for Hereditary Hemorrhagic Telangiectasia

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Diseases in the Hereditary Hemorrhagic Telangiectasia family:

Telangiectasia, Hereditary Hemorrhagic, Type 3 Telangiectasia, Hereditary Hemorrhagic, Type 4
Telangiectasia, Hereditary Hemorrhagic, Type 5 Telangiectasia, Hereditary Hemorrhagic, Type 2
Telangiectasia, Hereditary Hemorrhagic, Type 1 Smad4-Related Hereditary Hemorrhagic Telangiectasia
Acvrl1-Related Hereditary Hemorrhagic Telangiectasia Eng-Related Hereditary Hemorrhagic Telangiectasia

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

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation31.8ACVRL1
2cerebral arteriovenous malformation30.9ENG, ACVRL1
3pulmonary hypertension30.8BMPR2, ACVRL1
4angiodysplasia30.8ENG, ACVRL1
5leiomyosarcoma30.6PDGFRA, ACVRL1
6colorectal cancer30.5ENG, TGFB2, SMAD4
7melanoma30.5TFAP2A, TGFB2, ANGPT2, PDGFRA, ENG
8leukemia30.4ANGPT2, BMPR2, PDGFRA, ENG
9telangiectasis30.3ENG, ACVRL1
10ischemia30.2TGFB2, ANGPT2, ENG
11hepatitis11.0
12pulmonary arteriovenous malformation11.0
13cerebritis10.7
14aneurysm10.7
15juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.7
16endotheliitis10.7
17pancreatitis10.6
18arteriovenous fistula10.6
19weber syndrome10.5
20keratitis10.4
21epithelioid leiomyosarcoma10.4
22filamentary keratitis10.4
23disseminated intravascular coagulation10.4
24osteomyelitis10.4
25coronary artery aneurysm10.4
26splenomegaly10.4
27telangiectasia, hereditary hemorrhagic, type 110.4
28liver disease10.4
29portal hypertension10.4
30gingival overgrowth10.4
31gingivitis10.4
32telangiectasia, hereditary hemorrhagic, type 410.3
33telangiectasia, hereditary hemorrhagic, type 510.3
34myocardial infarction10.3
35migraine10.3
36deficiency anemia10.3
37iron deficiency anemia10.3
38atrial fibrillation10.3
39calcinosis10.3
40conjunctivitis10.3
41smad4-related hereditary hemorrhagic telangiectasia10.3
42acvrl1-related hereditary hemorrhagic telangiectasia10.3
43eng-related hereditary hemorrhagic telangiectasia10.3
44blindness10.3
45pseudoxanthoma elasticum10.3
46artery disease10.3
47telangiectasia, hereditary hemorrhagic, type 310.2
48nail-patella syndrome10.2
49ehlers-danlos syndrome, type ii10.2
50telangiectasia, hereditary hemorrhagic, type 210.2

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:

 49 (show all 34)
  • telangiectasiae of the skin
  • telangiectasiae of mucosae
  • epistaxis/nose bleeding
  • autosomal dominant inheritance
  • cavernous/tuberous hemangioma
  • functional anomalies of the liver and the biliary tract
  • portal hypertension
  • visceral angiomatosis (excluding skin)
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • functional anomalies of the cardio-circulatory system
  • facial pain/cephalalgia/migraine
  • microcytic anemia
  • hematomas
  • conjunctival telangiectasia
  • retinal vascular anomalies/retinal telangiectasia
  • visual loss/blindness/amblyopia
  • polyposis of the bowel/colon/intestine
  • esophageal varices
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • cirrhosis
  • hepatocellular liver disease/hepatic failure
  • hemoptysis
  • pulmonary hypertension
  • peripheral arteriovenous fistula
  • 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

HPO human phenotypes related to Hereditary Hemorrhagic Telangiectasia:

(show all 28)
id Description Frequency HPO Source Accession
1 epistaxis hallmark (90%) HP:0000421
2 teleangiectasia of the skin hallmark (90%) HP:0100585
3 cavernous hemangioma typical (50%) HP:0001048
4 portal hypertension typical (50%) HP:0001409
5 microcytic anemia typical (50%) HP:0001935
6 migraine typical (50%) HP:0002076
7 spontaneous hematomas typical (50%) HP:0007420
8 visceral angiomatosis typical (50%) HP:0100761
9 visual impairment occasional (7.5%) HP:0000505
10 conjunctival telangiectasia occasional (7.5%) HP:0000524
11 nephrolithiasis occasional (7.5%) HP:0000787
12 hematuria occasional (7.5%) HP:0000790
13 biliary tract abnormality occasional (7.5%) HP:0001080
14 seizures occasional (7.5%) HP:0001250
15 cirrhosis occasional (7.5%) HP:0001394
16 hepatic failure occasional (7.5%) HP:0001399
17 congestive heart failure occasional (7.5%) HP:0001635
18 abnormality of coagulation occasional (7.5%) HP:0001928
19 esophageal varix occasional (7.5%) HP:0002040
20 pulmonary hypertension occasional (7.5%) HP:0002092
21 hemoptysis occasional (7.5%) HP:0002105
22 pulmonary embolism occasional (7.5%) HP:0002204
23 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
24 cerebral ischemia occasional (7.5%) HP:0002637
25 thrombophlebitis occasional (7.5%) HP:0004418
26 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
27 peripheral arteriovenous fistula occasional (7.5%) HP:0100784
28 intestinal polyposis occasional (7.5%) HP:0200008

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 Telangiectasia22 SMAD4
2 Hereditary Hemorrhagic Telangiectasia Type 124
3 Osler Hemorrhagic Telangiectasia Syndrome24

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

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MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

33
Liver, Skin, Brain, Lung, Heart, Endothelial, Testes, Colon, Eye, Bone, Kidney, 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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Publications for Hereditary Hemorrhagic Telangiectasia

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Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50)    (show all 548)
idTitleAuthorsYear
1
Massive biliary necrosis as a complication of a hereditary hemorrhagic telangiectasia. (25874524)
2015
2
Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia. (25858236)
2015
3
Anti-angiogenic therapeutic strategies in hereditary hemorrhagic telangiectasia. (25717337)
2015
4
Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. (25892364)
2015
5
High prevalence of arterial aneurysms in hereditary hemorrhagic telangiectasia. (25150474)
2014
6
Treatment of epistaxis in hereditary hemorrhagic telangiectasia with tranexamic acid - a double-blind placebo-controlled cross-over phase IIIB study. (25005464)
2014
7
Treatment of the skin manifestations of hereditary hemorrhagic telangiectasia with pulsed dye laser. (23681198)
2014
8
A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome. (25432397)
2014
9
A giant pulmonary arteriovenous malformation without hereditary hemorrhagic telangiectasia: successful interventional embolization using a PDA occluder. (24627323)
2014
10
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
11
Liver Resection in Patients with Hepatic Hereditary Hemorrhagic Telangiectasia. (24217369)
2013
12
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. (24080277)
2013
13
Successful treatment of thalidomide for recurrent bleeding due to gastric angiodysplasia in hereditary hemorrhagic telangiectasia. (23661527)
2013
14
Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation. (23794345)
2013
15
High prevalence of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. (23246127)
2013
16
The intersection of genes and environment: development of pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and stimulant exposure. (22670022)
2012
17
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. (22810475)
2012
18
Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. (22656258)
2012
19
Long-term therapy with thalidomide in hereditary hemorrhagic telangiectasia: case report and literature review. (22031620)
2012
20
Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia. (22281938)
2012
21
Symptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasia. (21536610)
2011
22
Low dose of bevacizumab is safe and effective in preventing bleeding episodes in hereditary hemorrhagic telangiectasia. (22138950)
2011
23
Unsuspected polymicrobial brain abscess arising from an intra-abdominal source in a patient with hereditary hemorrhagic telangiectasia. (20622729)
2010
24
Hereditary hemorrhagic telangiectasia in a patient with microscopic polyangiitis. (19640374)
2009
25
Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia. (19330398)
2009
26
Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia. (18855162)
2009
27
More on bevacizumab in hereditary hemorrhagic telangiectasia. (19714790)
2009
28
Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. (19364795)
2009
29
Anesthetic management of a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Case report. (19374218)
2009
30
Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia. (19805914)
2009
31
Antiestrogen therapy for hereditary hemorrhagic telangiectasia: a double-blind placebo-controlled clinical trial. (19160429)
2009
32
Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: in search of predictors of significant disease. (18972437)
2008
33
Hereditary hemorrhagic telangiectasia: from epistaxis to life-threatening GI bleeding. (17724405)
2007
34
Septectomy and septal dermoplasty for the treatment of severe transfusion-dependent epistaxis in patients with hereditary hemorrhagic telangiectasia and septal perforation. (17621815)
2007
35
Hereditary hemorrhagic telangiectasia: a new surgical approach. (17505615)
2007
36
Hereditary hemorrhagic telangiectasia and psychopathology. (17431074)
2007
37
Analysis of angiogenesis related proteins and its implication in type-2 hereditary hemorrhagic telangiectasia]. (17278429)
2006
38
Liver involvement in hereditary hemorrhagic telangiectasia: CT and clinical findings do not correlate in symptomatic patients. (16985112)
2006
39
Acute visual loss as the presenting complaint of hereditary hemorrhagic telangiectasia. (17090798)
2006
40
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
41
Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry. (17122610)
2006
42
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
43
The effect of treatment for epistaxis secondary to hereditary hemorrhagic telangiectasia. (15794079)
2005
44
Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations: results in 31 patients. (16163493)
2005
45
Hereditary hemorrhagic telangiectasia. (16403391)
2005
46
Embolization of a duodenal arteriovenous malformation in hereditary hemorrhagic telangiectasia: case report and review of the literature. (14631462)
2003
47
Liver disease in hereditary hemorrhagic telangiectasia. (12544200)
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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Clinvar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

7 (show all 12)
id Gene Variation 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
5ACVRL1NM_000020.2(ACVRL1): c.1127T> G (p.Met376Arg)single nucleotide variantPathogenicrs28936399GRCh37Chr 12, 52309898: 52309898
6ACVRL1NM_000020.2(ACVRL1): c.695_697delCCT (p.Ser233del)deletionPathogenicrs387906391GRCh37Chr 12, 52308292: 52308294
7ACVRL1NM_000020.2(ACVRL1): c.150G> T (p.Trp50Cys)single nucleotide variantPathogenicrs121909285GRCh37Chr 12, 52306971: 52306971
8ACVRL1NM_000020.2(ACVRL1): c.143_147delGGGCCinsAGCCT (p.GlyAla48_49GluPro)indelPathogenicrs387906392GRCh37Chr 12, 52306964: 52306968
9ACVRL1NM_000020.2(ACVRL1): c.1193T> A (p.Ile398Asn)single nucleotide variantPathogenicrs121909286GRCh37Chr 12, 52309964: 52309964
10GDF2NM_016204.2(GDF2): c.254C> T (p.Pro85Leu)single nucleotide variantPathogenicGRCh37Chr 10, 48416440: 48416440
11GDF2NM_016204.2(GDF2): c.203G> T (p.Arg68Leu)single nucleotide variantPathogenicGRCh37Chr 10, 48416491: 48416491
12GDF2NM_016204.2(GDF2): c.997C> T (p.Arg333Trp)single nucleotide variantPathogenicGRCh37Chr 10, 48413871: 48413871

Expression for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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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 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ENG, SMAD4
29.8SMAD4, ENG
3
Show member pathways
9.6TGFB2, SMAD4
4
Show member pathways
9.5TGFB2, BMP10
5
Show member pathways
BMP receptor signaling38
BMP signalling and regulation38
BMP Signalling Pathway38
9.5BMPR2, SMAD4
69.5BMPR2, SMAD4
79.4BMPR2, BMP10
89.3PDGFRA, SMAD4
9
Show member pathways
9.2GDF2, TGFB2, BMP10
109.1SMAD4, ACVRL1, BMPR2
119.1TGFB2, PDGFRA
129.1BMPR2, BMP10, SMAD4
13
Show member pathways
9.0BMPR2, TGFB2, SMAD4
149.0BMPR2, TGFB2, SMAD4
158.9ENG, ACVRL1, TGFB2, SMAD4
168.9SMAD4, TGFB2, ACVRL1, ENG
17
Show member pathways
ALK1 pathway38
8.8GDF2, SMAD4, ACVRL1, BMPR2
188.8PDGFRA, TGFB2, SMAD4
198.8PDGFRA, TGFB2, SMAD4
208.7ENG, BMPR2, TGFB2, SMAD4
218.5PDGFRA, BMPR2, TGFB2
22
Show member pathways
8.4GDF2, TGFB2, BMP10, PDGFRA
23
Show member pathways
8.4PDGFRA, BMP10, TGFB2, GDF2
24
Show member pathways
8.4GDF2, TGFB2, BMP10, PDGFRA
25
Show member pathways
8.4GDF2, TGFB2, BMP10, PDGFRA
26
Show member pathways
8.4GDF2, TGFB2, BMP10, PDGFRA
27
Show member pathways
8.4GDF2, TGFB2, BMP10, PDGFRA
28
Show member pathways
8.4GDF2, TGFB2, BMP10, PDGFRA
298.4TGFB2, ANGPT2, PDGFRA, ENG
30
Show member pathways
8.1PDGFRA, BMPR2, BMP10, TGFB2
31
Show member pathways
7.9GDF2, TGFB2, ANGPT2, BMP10, PDGFRA
327.9ENG, BMPR2, BMP10, ACVRL1, TGFB2, SMAD4
33
Show member pathways
7.3TGFB2, ANGPT2, ACVRL1, BMP10, BMPR2, PDGFRA
34
Show member pathways
7.0BMPR2, BMP10, ACVRL1, ANGPT2, TGFB2, GDF2
35
Show member pathways
7.0GDF2, TGFB2, ANGPT2, ACVRL1, BMP10, BMPR2
36
Show member pathways
7.0GDF2, TGFB2, ANGPT2, ACVRL1, BMP10, BMPR2

Compounds for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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

(show all 26)
idCompoundScoreTop Affiliating Genes
1p005459.6TGFB2, ENG
2agar459.5ENG, TGFB2, SMAD4
3tcdd459.5TFAP2A, TGFB2
4matrigel459.4ENG, ANGPT2, TGFB2
5dihydrotestosterone45 30 26 1312.1TFAP2A, SMAD4, TGFB2, ENG
6pge2459.0ANGPT2, TGFB2, TFAP2A
7dexamethasone45 51 30 1311.9TFAP2A, TGFB2, ANGPT2, ENG
8steroid458.9ANGPT2, TGFB2, SMAD4, TFAP2A
9progesterone45 30 61 26 1312.8TFAP2A, TGFB2, BMPR2, ENG
10oxygen45 269.7ENG, BMPR2, ANGPT2, TFAP2A
11cyclosporin a45 30 6110.7ANGPT2, TGFB2, TFAP2A
12threonine458.6TFAP2A, SMAD4, ACVRL1, BMPR2, ENG
13glucose458.6GDF2, TFAP2A, SMAD4, TGFB2, ANGPT2
14tgf beta1458.5SMAD4, TGFB2, ACVRL1, PDGFRA, ENG
15paraffin458.4SMAD4, TGFB2, ANGPT2, PDGFRA, ENG
16phosphatidylinositol458.4TFAP2A, TGFB2, ANGPT2, PDGFRA
17cysteine458.3ENG, BMPR2, ANGPT2, TGFB2, TFAP2A
18adp45 30 2610.3TFAP2A, ACVRL1, BMPR2, PDGFRA
19nitric oxide45 26 1310.3TFAP2A, SMAD4, TGFB2, ANGPT2, BMPR2
20retinoic acid45 269.2PDGFRA, ANGPT2, TGFB2, TFAP2A
21thymidine45 269.0PDGFRA, BMPR2, ANGPT2, TGFB2, SMAD4
22oligonucleotide458.0TFAP2A, SMAD4, TGFB2, ACVRL1, PDGFRA, ENG
23estrogen457.8TFAP2A, SMAD4, TGFB2, ANGPT2, PDGFRA, ENG
24serine457.7TFAP2A, SMAD4, TGFB2, ANGPT2, ACVRL1, BMPR2
25vegf457.5ENG, PDGFRA, ACVRL1, ANGPT2, TGFB2, SMAD4
26tyrosine457.2TFAP2A, SMAD4, TGFB2, ANGPT2, BMPR2, PDGFRA

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
1neuronal cell bodyGO:00430259.0BMPR2, ACVRL1, TGFB2
2cell surfaceGO:00099868.5ACVRL1, BMP10, BMPR2, ENG
3extracellular spaceGO:00056157.7ENG, BMPR2, BMP10, ANGPT2, TGFB2, GDF2

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

(show all 47)
idNameGO IDScoreTop Affiliating Genes
1response to transforming growth factor betaGO:007155910.2SMAD4, ENG
2positive regulation of endothelial cell differentiationGO:004560310.1ACVRL1, GDF2
3regulation of transforming growth factor beta receptor signaling pathwayGO:001701510.1ENG, SMAD4
4patterning of blood vesselsGO:000156910.0ENG, GDF2
5regulation of transforming growth factor beta2 productionGO:003290910.0SMAD4, TGFB2
6negative regulation of endothelial cell proliferationGO:00019379.9ENG, ACVRL1, GDF2
7venous blood vessel developmentGO:00608419.9ACVRL1, BMPR2
8lymphatic endothelial cell differentiationGO:00608369.9BMPR2, ACVRL1
9neuron fate commitmentGO:00486639.9TGFB2, SMAD4
10vasculogenesisGO:00015709.9ENG, GDF2
11cardiac muscle cell proliferationGO:00600389.8BMP10, TGFB2
12artery developmentGO:00608409.8BMPR2, ACVRL1
13lymphangiogenesisGO:00019469.8BMPR2, ACVRL1
14negative regulation of endothelial cell migrationGO:00105969.8BMP10, ACVRL1, GDF2
15positive regulation of epithelial to mesenchymal transitionGO:00107189.8TGFB2, SMAD4
16negative regulation of blood vessel endothelial cell migrationGO:00435379.8GDF2, ANGPT2, ACVRL1
17negative regulation of cell migrationGO:00303369.8ENG, BMP10, ACVRL1
18pathway-restricted SMAD protein phosphorylationGO:00603899.6GDF2, TGFB2, BMP10
19negative regulation of DNA biosynthetic processGO:020002799.6GDF2, ACVRL1, BMPR2
20positive regulation of epithelial cell migrationGO:00106349.6TGFB2, BMPR2
21negative regulation of angiogenesisGO:00165259.6ANGPT2, GDF2
22positive regulation of endothelial cell proliferationGO:00019389.6BMPR2, ACVRL1, GDF2
23positive regulation of neuron apoptotic processGO:00435259.5TGFB2, TFAP2A
24positive regulation of bone mineralizationGO:00305019.5TFAP2A, BMPR2
25positive regulation of gene expressionGO:00106289.4TFAP2A, TGFB2, ENG
26cell chemotaxisGO:00603269.4PDGFRA, ENG
27blood vessel remodelingGO:00019749.4TGFB2, ACVRL1, BMPR2
28embryonic cranial skeleton morphogenesisGO:00487019.4PDGFRA, TFAP2A
29transforming growth factor beta receptor signaling pathwayGO:00071799.4SMAD4, TGFB2, ACVRL1, ENG
30positive regulation of osteoblast differentiationGO:00456699.2BMPR2, GDF2
31response to hypoxiaGO:00016669.2SMAD4, TGFB2, ANGPT2, ENG
32angiogenesisGO:00015259.2ACVRL1, ANGPT2, TGFB2, GDF2
33activin receptor signaling pathwayGO:00329249.2BMPR2, BMP10, ACVRL1, GDF2
34wound healingGO:00420609.2ENG, PDGFRA, TGFB2
35in utero embryonic developmentGO:00017019.2PDGFRA, ACVRL1, SMAD4
36positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.1PDGFRA, TGFB2
37palate developmentGO:00600219.1TFAP2A, SMAD4, PDGFRA
38retina vasculature development in camera-type eyeGO:00612989.1PDGFRA, BMPR2, ACVRL1
39negative regulation of cell proliferationGO:00082859.1TFAP2A, SMAD4, TGFB2, ACVRL1
40face morphogenesisGO:00603259.0TFAP2A, TGFB2, PDGFRA
41positive regulation of transcription from RNA polymerase II promoterGO:00459449.0GDF2, TFAP2A, SMAD4, ACVRL1, ENG
42positive regulation of BMP signaling pathwayGO:00305139.0GDF2, SMAD4, ACVRL1, BMPR2, ENG
43positive regulation of transcription, DNA-templatedGO:00458938.9BMP10, ACVRL1, SMAD4, TFAP2A, GDF2
44extracellular matrix organizationGO:00301988.9PDGFRA, BMP10, TGFB2
45positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108628.5ENG, BMPR2, BMP10, ACVRL1, SMAD4, GDF2
46BMP signaling pathwayGO:00305098.5GDF2, SMAD4, ACVRL1, BMP10, BMPR2, ENG
47negative regulation of cell growthGO:00303088.3GDF2, SMAD4, TGFB2, ACVRL1, BMP10, BMPR2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:00481859.9ENG, ACVRL1
2transforming growth factor beta bindingGO:00504319.8ACVRL1, ENG
3type II transforming growth factor beta receptor bindingGO:00051149.8ENG, TGFB2
4core promoter proximal region sequence-specific DNA bindingGO:00009879.6SMAD4, TFAP2A
5receptor signaling protein serine/threonine kinase activityGO:00047029.6ACVRL1, TGFB2
6transforming growth factor beta-activated receptor activityGO:00050249.4ENG, BMPR2, ACVRL1
7growth factor activityGO:00080839.1BMP10, TGFB2, GDF2
8cytokine activityGO:00051258.9BMP10, TGFB2, GDF2
9protein homodimerization activityGO:00428038.1TFAP2A, SMAD4, TGFB2, PDGFRA, ENG
10protein bindingGO:00055156.0ENG, GDF2, TFAP2A, SMAD4, TGFB2, ANGPT2

Products for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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