HHT
MCID: HRD008
MIFTS: 81

Hereditary Hemorrhagic Telangiectasia (HHT) malady

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

Summaries for Hereditary Hemorrhagic Telangiectasia

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 HIF-1-alpha transcription factor network and TGF Beta Signaling Pathway. The compounds agar and p005 have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and brain, and related mouse phenotypes are craniofacial and integument.

Genetics Home Reference:22 Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

Wikipedia:66 Hereditary hemorrhagic telangiectasia (HHT), also known as Osler?Weber?Rendu disease and... more...

Description from OMIM:48 600376,187300,601101,610655,615506

GeneReviews summary for hht

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

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9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 11DISEASES, 50Orphanet, 63UMLS, 23GTR, 48OMIM, 46Novoseek, 36MeSH, 41NCIt, 59SNOMED-CT, 28ICD9CM, 27ICD10 via Orphanet, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hereditary hemorrhagic telangiectasia:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

hereditary hemorrhagic telangiectasia 9 66 20 44 21 22 11 50 63
hht 20 44 22 50
osler hemorrhagic telangiectasia syndrome 9 23 22
osler-weber-rendu disease 9 66 20
telangiectasia hereditary hemorrhagic type 1 44 23
osler-rendu-weber disease 44 22
rendu-osler-weber disease 9 50
telangiectasia, hereditary hemorrhagic, type 1 48
hereditary hemorrhagic telangiectasia type 1 44
telangiectasia hereditary hemorrhagic 46
osler weber rendu syndrome type 1 44
osler weber rendu syndrome 44
osler-rendu disease 22
rendu-osler disease 50
rendu-osler-weber 22
osler's disease 22
weber-osler 22
orw disease 44
hht1 44
orw1 44


External Ids:

Disease Ontology9 DOID:1270
NCIt41 C35064
ICD9CM28 448.0
ICD10 via Orphanet27 I78.0
UMLS via Orphanet64 C0039445
SNOMED-CT via Orphanet60 21877004
ICD1026 I78.0

Related Diseases for Hereditary Hemorrhagic Telangiectasia

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18GeneCards, 19GeneDecks
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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 122)
idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation31.8ACVRL1
2telangiectasis31.2ENG, ACVRL1
3angiodysplasia30.8ACVRL1, ENG
4juvenile polyposis syndrome30.6SMAD4
5leiomyosarcoma30.6PDGFRA, ACVRL1
6melanoma30.4ENG, PDGFRA, ANGPT2, TGFB2, TFAP2A
7colorectal cancer30.4TFAP2A, SMAD4, ANGPT2, TGFB2, ENG
8leukemia30.3ANGPT2, ENG, PDGFRA, BMPR2
9ischemia30.2TGFB2, ANGPT2, ENG
10hepatitis11.0
11pulmonary arteriovenous malformation11.0
12hypertension10.8
13cerebritis10.7
14hereditary hemorrhagic telangiectasia type 210.6
15aneurysm10.6
16pancreatitis10.6
17endotheliitis10.6
18juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.6
19arteriovenous fistula10.6
20weber syndrome10.5
21epithelioid leiomyosarcoma10.4
22filamentary keratitis10.4
23disseminated intravascular coagulation10.4
24keratitis10.4
25osteomyelitis10.4
26coronary artery aneurysm10.4
27splenomegaly10.4
28portal hypertension10.4
29liver disease10.4
30hereditary hemorrhagic telangiectasia type 310.4
31eng-related hereditary hemorrhagic telangiectasia10.4
32gingival overgrowth10.4
33gingivitis10.4
34deficiency anemia10.3
35iron deficiency anemia10.3
36calcinosis10.3
37conjunctivitis10.3
38myocardial infarction10.3
39hereditary hemorrhagic telangiectasia type 410.3
40smad4-related hereditary hemorrhagic telangiectasia10.3
41acvrl1-related hereditary hemorrhagic telangiectasia10.3
42pseudoxanthoma elasticum10.3
43artery disease10.3
44angina pectoris10.2
45crohn's disease10.2
46hepatitis c10.2
47antiphospholipid syndrome10.2
48nail-patella syndrome10.2
49median arcuate ligament syndrome10.2
50hypogonadotropism10.2

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

187300

Clinical features from OMIM:

600376,187300,601101,610655,615506

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Hereditary Hemorrhagic Telangiectasia:

id Genetic test Affiliating Genes
1 Hereditary Hemorrhagic Telangiectasia21 SMAD4
2 Hereditary Hemorrhagic Telangiectasia Type 123
3 Osler Hemorrhagic Telangiectasia Syndrome23

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

34
Liver, Skin, Brain, Lung, Heart, Endothelial, Testes, Colon, Eye, Kidney, Bone, 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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38MGI
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Publications for Hereditary Hemorrhagic Telangiectasia

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53PubMed
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Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50)    (show all 510)
idTitleAuthorsYear
1
Treatment of the skin manifestations of hereditary hemorrhagic telangiectasia with pulsed dye laser. (23681198)
2014
2
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
3
Liver Resection in Patients with Hepatic Hereditary Hemorrhagic Telangiectasia. (24217369)
2013
4
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. (24080277)
2013
5
Successful treatment of thalidomide for recurrent bleeding due to gastric angiodysplasia in hereditary hemorrhagic telangiectasia. (23661527)
2013
6
Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation. (23794345)
2013
7
High prevalence of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. (23246127)
2013
8
Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboli. (23707042)
2013
9
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. (23972370)
2013
10
The intersection of genes and environment: development of pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and stimulant exposure. (22670022)
2012
11
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. (22810475)
2012
12
Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. (22656258)
2012
13
Long-term therapy with thalidomide in hereditary hemorrhagic telangiectasia: case report and literature review. (22031620)
2012
14
Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia. (22281938)
2012
15
Liver involvement in hereditary hemorrhagic telangiectasia: can breath test unmask impaired hepatic first-pass effect? (21305365)
2012
16
Symptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasia. (21536610)
2011
17
Low dose of bevacizumab is safe and effective in preventing bleeding episodes in hereditary hemorrhagic telangiectasia. (22138950)
2011
18
Multiple pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia complicated by embolic strokes. (21555646)
2011
19
Unsuspected polymicrobial brain abscess arising from an intra-abdominal source in a patient with hereditary hemorrhagic telangiectasia. (20622729)
2010
20
Hereditary hemorrhagic telangiectasia in a patient with microscopic polyangiitis. (19640374)
2009
21
Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia. (19330398)
2009
22
Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia. (18855162)
2009
23
More on bevacizumab in hereditary hemorrhagic telangiectasia. (19714790)
2009
24
Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. (19364795)
2009
25
Anesthetic management of a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Case report. (19374218)
2009
26
Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia. (19805914)
2009
27
Antiestrogen therapy for hereditary hemorrhagic telangiectasia: a double-blind placebo-controlled clinical trial. (19160429)
2009
28
Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement. (19118276)
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
Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). (10992384)
2000
49
Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. (10794291)
2000
50
A murine model of hereditary hemorrhagic telangiectasia. (10562296)
1999

Variations for Hereditary Hemorrhagic Telangiectasia

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65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

65 (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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2BioGPS, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 55R&D Systems, 56Reactome, 54QIAGEN, 13EMD Millipore, 58SinoBiological, 31KEGG, 5Cell Signaling Technology
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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
19.9ENG, SMAD4
29.9SMAD4, ENG
3
Show member pathways
9.6TGFB2, SMAD4
4
Show member pathways
9.5TGFB2, BMP10
5
Show member pathways
BMP receptor signaling39
BMP signalling and regulation39
BMP Signalling Pathway39
9.5BMPR2, SMAD4
69.5BMPR2, SMAD4
79.4BMPR2, BMP10
89.3PDGFRA, SMAD4
9
Show member pathways
9.2GDF2, TGFB2, BMP10
109.2SMAD4, ACVRL1, BMPR2
119.1TGFB2, PDGFRA
129.1BMPR2, BMP10, SMAD4
13
Show member pathways
9.0BMPR2, TGFB2, SMAD4
149.0BMPR2, TGFB2, SMAD4
159.0SMAD4, TGFB2, ACVRL1, ENG
169.0ENG, ACVRL1, TGFB2, SMAD4
17
Show member pathways
ALK1 pathway39
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
317.9ENG, BMPR2, BMP10, ACVRL1, TGFB2, SMAD4
32
Show member pathways
7.9GDF2, TGFB2, ANGPT2, BMP10, PDGFRA
33
Show member pathways
7.3TGFB2, ANGPT2, ACVRL1, BMP10, BMPR2, PDGFRA
34
Show member pathways
6.9GDF2, TGFB2, ANGPT2, ACVRL1, BMP10, BMPR2
35
Show member pathways
6.9GDF2, TGFB2, ANGPT2, ACVRL1, BMP10, BMPR2
36
Show member pathways
6.9BMPR2, BMP10, ACVRL1, ANGPT2, TGFB2, GDF2

Compounds for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Hereditary Hemorrhagic Telangiectasia according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1agar469.6ENG, TGFB2, SMAD4
2p005469.6TGFB2, ENG
3tcdd469.5TFAP2A, TGFB2
4matrigel469.4ENG, ANGPT2, TGFB2
5dihydrotestosterone46 30 25 1212.1TFAP2A, SMAD4, TGFB2, ENG
6pge2469.0ANGPT2, TGFB2, TFAP2A
7dexamethasone46 52 30 1211.9TFAP2A, TGFB2, ANGPT2, ENG
8steroid468.9ANGPT2, TGFB2, SMAD4, TFAP2A
9progesterone46 30 62 25 1212.8TFAP2A, TGFB2, BMPR2, ENG
10oxygen46 259.7ENG, BMPR2, ANGPT2, TFAP2A
11cyclosporin a46 30 6210.7ANGPT2, TGFB2, TFAP2A
12threonine468.6TFAP2A, SMAD4, ACVRL1, BMPR2, ENG
13glucose468.6GDF2, TFAP2A, SMAD4, TGFB2, ANGPT2
14tgf beta1468.5SMAD4, TGFB2, ACVRL1, PDGFRA, ENG
15paraffin468.4SMAD4, TGFB2, ANGPT2, PDGFRA, ENG
16phosphatidylinositol468.4TFAP2A, TGFB2, ANGPT2, PDGFRA
17cysteine468.3ENG, BMPR2, ANGPT2, TGFB2, TFAP2A
18nitric oxide46 25 1210.3TFAP2A, SMAD4, TGFB2, ANGPT2, BMPR2
19adp46 30 2510.3TFAP2A, ACVRL1, BMPR2, PDGFRA
20retinoic acid46 259.2PDGFRA, ANGPT2, TGFB2, TFAP2A
21thymidine46 259.1PDGFRA, BMPR2, ANGPT2, TGFB2, SMAD4
22oligonucleotide468.0TFAP2A, SMAD4, TGFB2, ACVRL1, PDGFRA, ENG
23estrogen467.9TFAP2A, SMAD4, TGFB2, ANGPT2, PDGFRA, ENG
24serine467.7TFAP2A, SMAD4, TGFB2, ANGPT2, ACVRL1, BMPR2
25vegf467.5ENG, PDGFRA, ACVRL1, ANGPT2, TGFB2, SMAD4
26tyrosine467.3TFAP2A, SMAD4, TGFB2, ANGPT2, BMPR2, PDGFRA

GO Terms for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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17Gene Ontology
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Cellular components related to Hereditary Hemorrhagic Telangiectasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:0430259.0BMPR2, ACVRL1, TGFB2
2cell surfaceGO:0099868.5ACVRL1, BMP10, BMPR2, ENG
3extracellular spaceGO:0056157.7ENG, 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:07155910.2SMAD4, ENG
2regulation of transforming growth factor beta receptor signaling pathwayGO:01701510.1ENG, SMAD4
3positive regulation of endothelial cell differentiationGO:04560310.1ACVRL1, GDF2
4patterning of blood vesselsGO:00156910.0ENG, GDF2
5regulation of transforming growth factor beta2 productionGO:03290910.0SMAD4, TGFB2
6neuron fate commitmentGO:0486639.9TGFB2, SMAD4
7positive regulation of epithelial to mesenchymal transitionGO:0107189.9TGFB2, SMAD4
8negative regulation of endothelial cell proliferationGO:0019379.9ENG, ACVRL1, GDF2
9venous blood vessel developmentGO:0608419.9ACVRL1, BMPR2
10cardiac muscle cell proliferationGO:0600389.8BMP10, TGFB2
11lymphatic endothelial cell differentiationGO:0608369.8BMPR2, ACVRL1
12vasculogenesisGO:0015709.8ENG, GDF2
13artery developmentGO:0608409.8BMPR2, ACVRL1
14lymphangiogenesisGO:0019469.8BMPR2, ACVRL1
15negative regulation of endothelial cell migrationGO:0105969.8BMP10, ACVRL1, GDF2
16negative regulation of cell migrationGO:0303369.7ENG, BMP10, ACVRL1
17negative regulation of blood vessel endothelial cell migrationGO:0435379.7GDF2, ANGPT2, ACVRL1
18pathway-restricted SMAD protein phosphorylationGO:0603899.6GDF2, TGFB2, BMP10
19positive regulation of epithelial cell migrationGO:0106349.6TGFB2, BMPR2
20negative regulation of angiogenesisGO:0165259.6ANGPT2, GDF2
21negative regulation of DNA biosynthetic processGO:20002799.6GDF2, ACVRL1, BMPR2
22positive regulation of neuron apoptotic processGO:0435259.5TGFB2, TFAP2A
23positive regulation of bone mineralizationGO:0305019.5TFAP2A, BMPR2
24positive regulation of endothelial cell proliferationGO:0019389.5BMPR2, ACVRL1, GDF2
25positive regulation of gene expressionGO:0106289.4TFAP2A, TGFB2, ENG
26cell chemotaxisGO:0603269.4PDGFRA, ENG
27transforming growth factor beta receptor signaling pathwayGO:0071799.4SMAD4, TGFB2, ACVRL1, ENG
28blood vessel remodelingGO:0019749.4TGFB2, ACVRL1, BMPR2
29embryonic cranial skeleton morphogenesisGO:0487019.4PDGFRA, TFAP2A
30response to hypoxiaGO:0016669.3SMAD4, TGFB2, ANGPT2, ENG
31in utero embryonic developmentGO:0017019.2PDGFRA, ACVRL1, SMAD4
32positive regulation of osteoblast differentiationGO:0456699.2BMPR2, GDF2
33wound healingGO:0420609.2ENG, PDGFRA, TGFB2
34palate developmentGO:0600219.2TFAP2A, SMAD4, PDGFRA
35angiogenesisGO:0015259.2ACVRL1, ANGPT2, TGFB2, GDF2
36activin receptor signaling pathwayGO:0329249.2BMPR2, BMP10, ACVRL1, GDF2
37positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.1PDGFRA, TGFB2
38retina vasculature development in camera-type eyeGO:0612989.1PDGFRA, BMPR2, ACVRL1
39negative regulation of cell proliferationGO:0082859.1TFAP2A, SMAD4, TGFB2, ACVRL1
40face morphogenesisGO:0603259.0TFAP2A, TGFB2, PDGFRA
41positive regulation of transcription from RNA polymerase II promoterGO:0459449.0GDF2, TFAP2A, SMAD4, ACVRL1, ENG
42positive regulation of BMP signaling pathwayGO:0305139.0GDF2, SMAD4, ACVRL1, BMPR2, ENG
43positive regulation of transcription, DNA-templatedGO:0458938.9BMP10, ACVRL1, SMAD4, TFAP2A, GDF2
44extracellular matrix organizationGO:0301988.9PDGFRA, BMP10, TGFB2
45positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108628.5ENG, BMPR2, BMP10, ACVRL1, SMAD4, GDF2
46BMP signaling pathwayGO:0305098.5GDF2, SMAD4, ACVRL1, BMP10, BMPR2, ENG
47negative regulation of cell growthGO:0303088.3GDF2, 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:0481859.9ENG, ACVRL1
2transforming growth factor beta bindingGO:0504319.8ACVRL1, ENG
3type II transforming growth factor beta receptor bindingGO:0051149.8ENG, TGFB2
4core promoter proximal region sequence-specific DNA bindingGO:0009879.7SMAD4, TFAP2A
5receptor signaling protein serine/threonine kinase activityGO:0047029.6ACVRL1, TGFB2
6transforming growth factor beta-activated receptor activityGO:0050249.4ENG, BMPR2, ACVRL1
7growth factor activityGO:0080839.1BMP10, TGFB2, GDF2
8cytokine activityGO:0051258.9BMP10, TGFB2, GDF2
9protein homodimerization activityGO:0428038.2TFAP2A, SMAD4, TGFB2, PDGFRA, ENG
10protein bindingGO:0055156.0ENG, GDF2, TFAP2A, SMAD4, TGFB2, ANGPT2

Products for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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Sources for Hereditary Hemorrhagic Telangiectasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet