MCID: HRD008
MIFTS: 75

Hereditary Hemorrhagic Telangiectasia malady

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

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 64Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 33MeSH, 39NCIt, 27ICD9CM, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Hereditary Hemorrhagic Telangiectasia:

Name: Hereditary Hemorrhagic Telangiectasia 30 8 64 19 42 20 21 10 48 61
Hht 19 42 21 48
Osler Hemorrhagic Telangiectasia Syndrome 8 21 22
Osler-Weber-Rendu Disease 8 64 19
Telangiectasia Hereditary Hemorrhagic Type 1 42 22
Rendu-Osler-Weber Disease 8 48
Osler-Rendu-Weber Disease 42 21
Hereditary Hemorrhagic Telangiectasia Type 1 42
Telangiectasia Hereditary Hemorrhagic 44
Osler Weber Rendu Syndrome Type 1 42
 
Osler Weber Rendu Syndrome 42
Osler-Rendu Disease 21
Rendu-Osler Disease 48
Rendu-Osler-Weber 21
Polycythemia Vera 61
Osler's Disease 21
Weber-Osler 21
Orw Disease 42
Hht1 42
Orw1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary hemorrhagic telangiectasia:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology8 DOID:1270
NCIt39 C35064
ICD9CM27 448.0
Orphanet48 774
ICD10 via Orphanet26 I78.0
UMLS via Orphanet62 C0039445
ICD1025 I78.0

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 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 TGF Beta Signaling Pathway and HIF-1-alpha transcription factor network. The drugs interferon alfa-2b and busulfan and 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:8 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:21 Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

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

GeneReviews summary for hht

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 Suite gene sharing:

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation32.4ACVRL1
2cerebral arteriovenous malformation31.3ENG, ACVRL1
3angiodysplasia31.2ACVRL1, ENG
4pulmonary hypertension30.9BMPR2, ACVRL1
5telangiectasis30.8ENG, ACVRL1
6leiomyosarcoma30.7PDGFRA, ACVRL1
7colorectal cancer30.5TGFB2, ENG, SMAD4
8ischemia30.1TGFB2, ANGPT2, ENG
9leukemia29.8ANGPT2, ENG, PDGFRA, BMPR2
10melanoma29.8ENG, PDGFRA, ANGPT2, TGFB2, TFAP2A
11hepatitis11.0
12pulmonary arteriovenous malformation11.0
13cerebritis10.7
14juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.7
15aneurysm10.7
16endotheliitis10.7
17pancreatitis10.6
18arteriovenous fistula10.6
19weber syndrome10.5
20polyposis, juvenile intestinal10.5SMAD4
21keratitis10.4
22epithelioid leiomyosarcoma10.4
23filamentary keratitis10.4
24disseminated intravascular coagulation10.4
25osteomyelitis10.4
26coronary artery aneurysm10.4
27splenomegaly10.4
28telangiectasia, hereditary hemorrhagic, type 410.4
29telangiectasia, hereditary hemorrhagic, type 110.4
30liver disease10.4
31portal hypertension10.4
32smad4-related hereditary hemorrhagic telangiectasia10.4
33acvrl1-related hereditary hemorrhagic telangiectasia10.4
34eng-related hereditary hemorrhagic telangiectasia10.4
35gingival overgrowth10.4
36gingivitis10.4
37myocardial infarction10.3
38migraine10.3
39deficiency anemia10.3
40iron deficiency anemia10.3
41atrial fibrillation10.3
42calcinosis10.3
43conjunctivitis10.3
44blindness10.3
45embryonal rhabdomyosarcoma10.3ACVRL1, SMAD4
46pseudoxanthoma elasticum10.3
47artery disease10.3
48renal fibrosis10.2TGFB2, ENG
49macular holes10.2TGFB2, ANGPT2
50mixed connective tissue disease10.2BMPR2, ACVRL1

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:

 48 (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

Inferred drug relations via UMLS61/NDF-RT40:

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:

31
Liver, Skin, Brain, Lung, Heart, Endothelial, Testes, Colon, Eye, Bone, Kidney, Monocytes, Appendix

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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:

5 (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 Suite gene sharing:

(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
9.5BMP10, TGFB2
59.5BMPR2, SMAD4
6
Show member pathways
BMP receptor signaling36
BMP signalling and regulation36
BMP Signalling Pathway36
9.5SMAD4, BMPR2
79.4BMP10, BMPR2
8
Show member pathways
9.2TGFB2, BMP10, GDF2
99.1ACVRL1, BMPR2, SMAD4
109.1TGFB2, PDGFRA
119.1SMAD4, BMP10, BMPR2
12
Show member pathways
9.0BMPR2, TGFB2, SMAD4
139.0SMAD4, BMPR2, TGFB2
148.9TGFB2, SMAD4, ACVRL1, ENG
158.9SMAD4, TGFB2, ACVRL1, ENG
16
Show member pathways
ALK1 pathway36
8.8SMAD4, ACVRL1, GDF2, BMPR2
178.8SMAD4, TGFB2, PDGFRA
188.8PDGFRA, TGFB2, SMAD4
198.7TGFB2, SMAD4, BMPR2, ENG
208.5BMPR2, PDGFRA, TGFB2
21
Show member pathways
8.4PDGFRA, BMP10, GDF2, TGFB2
22
Show member pathways
8.4TGFB2, PDGFRA, GDF2, BMP10
23
Show member pathways
8.4PDGFRA, BMP10, GDF2, TGFB2
24
Show member pathways
8.4PDGFRA, TGFB2, BMP10, GDF2
25
Show member pathways
8.4GDF2, TGFB2, BMP10, PDGFRA
26
Show member pathways
8.4GDF2, PDGFRA, BMP10, TGFB2
27
Show member pathways
8.4GDF2, PDGFRA, BMP10, TGFB2
288.4TGFB2, PDGFRA, ENG, ANGPT2
29
Show member pathways
8.1TGFB2, BMP10, BMPR2, PDGFRA
30
Show member pathways
7.9PDGFRA, ANGPT2, GDF2, TGFB2, BMP10
317.9TGFB2, ENG, SMAD4, BMP10, ACVRL1, BMPR2
32
Show member pathways
7.3BMP10, BMPR2, PDGFRA, ANGPT2, TGFB2, ACVRL1
33
Show member pathways
7.0BMP10, BMPR2, TGFB2, GDF2, PDGFRA, ANGPT2
34
Show member pathways
7.0ANGPT2, ACVRL1, GDF2, PDGFRA, TGFB2, BMPR2
35
Show member pathways
7.0ANGPT2, GDF2, PDGFRA, BMPR2, TGFB2, BMP10

Compounds for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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Compounds related to Hereditary Hemorrhagic Telangiectasia according to GeneCards Suite gene sharing:

(show all 26)
idCompoundScoreTop Affiliating Genes
1p005449.6TGFB2, ENG
2agar449.5SMAD4, TGFB2, ENG
3tcdd449.5TFAP2A, TGFB2
4matrigel449.4ENG, ANGPT2, TGFB2
5dihydrotestosterone44 28 24 1112.1TGFB2, ENG, SMAD4, TFAP2A
6pge2449.0ANGPT2, TGFB2, TFAP2A
7dexamethasone44 50 28 1111.9TGFB2, ANGPT2, TFAP2A, ENG
8steroid448.9TFAP2A, SMAD4, TGFB2, ANGPT2
9progesterone44 28 60 24 1112.8ENG, BMPR2, TGFB2, TFAP2A
10oxygen44 249.7TFAP2A, ENG, BMPR2, ANGPT2
11cyclosporin a44 28 6010.7TGFB2, ANGPT2, TFAP2A
12threonine448.6TFAP2A, SMAD4, ACVRL1, BMPR2, ENG
13glucose448.6GDF2, TFAP2A, SMAD4, TGFB2, ANGPT2
14tgf beta1448.5ACVRL1, SMAD4, TGFB2, PDGFRA, ENG
15paraffin448.4ENG, PDGFRA, ANGPT2, TGFB2, SMAD4
16phosphatidylinositol448.4TFAP2A, TGFB2, PDGFRA, ANGPT2
17cysteine448.3TGFB2, TFAP2A, ANGPT2, ENG, BMPR2
18adp44 28 2410.3PDGFRA, BMPR2, ACVRL1, TFAP2A
19nitric oxide44 24 1110.3ANGPT2, BMPR2, TGFB2, TFAP2A, SMAD4
20retinoic acid44 249.2ANGPT2, PDGFRA, TFAP2A, TGFB2
21thymidine44 249.0SMAD4, TGFB2, ANGPT2, BMPR2, PDGFRA
22oligonucleotide448.0ENG, PDGFRA, ACVRL1, SMAD4, TGFB2, TFAP2A
23estrogen447.8TGFB2, ENG, ANGPT2, SMAD4, TFAP2A, PDGFRA
24serine447.7TFAP2A, SMAD4, TGFB2, ANGPT2, ENG, ACVRL1
25vegf447.5TGFB2, TFAP2A, SMAD4, ANGPT2, ACVRL1, PDGFRA
26tyrosine447.2ANGPT2, SMAD4, TFAP2A, TGFB2, 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 Suite gene sharing:

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 Suite gene sharing:

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

Molecular functions related to Hereditary Hemorrhagic Telangiectasia according to GeneCards Suite gene sharing:

(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

Sources for Hereditary Hemorrhagic Telangiectasia

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2CDC
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