HHT
MCID: HRD008
MIFTS: 61

Hereditary Hemorrhagic Telangiectasia (HHT)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

MalaCards integrated aliases for Hereditary Hemorrhagic Telangiectasia:

Name: Hereditary Hemorrhagic Telangiectasia 38 12 76 24 53 25 59 37 15 73
Hht 24 53 25 59
Osler Hemorrhagic Telangiectasia Syndrome 12 29 6
Rendu-Osler-Weber Disease 12 53 59
Telangiectasia, Hereditary Hemorrhagic 76 44
Osler-Weber-Rendu Disease 12 24
Telangiectasia Hereditary Hemorrhagic 55
Osler Weber Rendu Syndrome 53
Osler-Weber-Rendu Syndrome 25
Osler-Rendu-Weber Disease 53
Rendu-Osler Disease 59
Orw Disease 53

Characteristics:

Orphanet epidemiological data:

59
hereditary hemorrhagic telangiectasia
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe),1-5/10000 (France),1-9/100000 (United Kingdom),1-5/10000 (Denmark),1-5/10000 (Japan),1-9/100000 (United States),1-5/10000; Age of onset: Childhood; Age of death: normal life expectancy;

GeneReviews:

24
Penetrance Hht displays age-related penetrance with increased manifestations developing over a lifetime...

Classifications:



Summaries for Hereditary Hemorrhagic Telangiectasia

NIH Rare Diseases : 53 Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with HHT can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. AVMs on the skin are called telangiectasias. AVMs can also develop in other parts of the body, including the brain, lungs, liver, or intestines. HHT is caused by a mutation in one of several genes, including ACVRL1, ENG, SMAD4, and GDF2. Changes in at least other two unknown genes are also suspected of causing HHT in some people. HHT is inherited in an autosomal dominant pattern, which means a person only needs to inherit one copy of the changed gene to have HHT. While there is no cure for HHT, treatment is symptomatic and supportive, with a focus on controlling bleeding and preventing medical complications, either through surgery or medication.

MalaCards based summary : Hereditary Hemorrhagic Telangiectasia, also known as hht, is related to pulmonary arteriovenous malformation and telangiectasis, and has symptoms including seizures, dyspnea and cyanosis. An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (Endoglin), and among its related pathways/superpathways are TGF-beta signaling pathway and TGF-beta Signaling Pathways. The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Lateral Plate Mesoderm, liver and brain, and related phenotypes are seizures and portal hypertension

Disease Ontology : 12 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 : 25 Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

Wikipedia : 76 Hereditary hemorrhagic telangiectasia (HHT), also known as Osler�??Weber�??Rendu disease and... more...

GeneReviews: NBK1351

Related Diseases for Hereditary Hemorrhagic Telangiectasia

Diseases in the Hereditary Hemorrhagic Telangiectasia family:

Telangiectasia, Hereditary Hemorrhagic, Type 1 Telangiectasia, Hereditary Hemorrhagic, Type 2
Telangiectasia, Hereditary Hemorrhagic, Type 3 Telangiectasia, Hereditary Hemorrhagic, Type 4
Telangiectasia, Hereditary Hemorrhagic, Type 5

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 32.7 ACVRL1 ENG
2 telangiectasis 31.6 ACVRL1 ENG GDF2 SMAD4
3 pulmonary hypertension, primary, 1 30.8 ACVRL1 ENG
4 weber syndrome 30.7 ACVRL1 ENG
5 angiodysplasia 30.6 ACVRL1 ENG
6 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.8
7 telangiectasia, hereditary hemorrhagic, type 1 12.3
8 telangiectasia, hereditary hemorrhagic, type 4 11.9
9 telangiectasia, hereditary hemorrhagic, type 2 11.8
10 pulmonary arterio-veinous fistula 11.7
11 telangiectasia, hereditary hemorrhagic, type 3 11.4
12 telangiectasia, hereditary hemorrhagic, type 5 11.2
13 arteriovenous malformation 10.8
14 pulmonary arteriovenous fistulas 10.6
15 arteriovenous fistula 10.4
16 pulmonary hypertension 10.4
17 esophageal varix 10.3
18 hepatic coma 10.3
19 hepatic encephalopathy 10.3
20 leiomyosarcoma 10.3
21 filamentary keratitis 10.3
22 epithelioid leiomyosarcoma 10.3
23 splenomegaly 10.3
24 liver disease 10.3
25 juvenile polyposis syndrome 10.2
26 atrial fibrillation 10.2
27 portal hypertension 10.2
28 renal cell carcinoma, nonpapillary 10.2
29 liver cirrhosis 10.2
30 rheumatic heart disease 10.2
31 heart disease 10.2
32 branch retinal artery occlusion 10.2
33 retinal artery occlusion 10.2
34 arteriovenous malformations of the brain 10.2
35 endocarditis 10.2
36 iron metabolism disease 10.2
37 heritable pulmonary arterial hypertension 10.2 ACVRL1 ENG GDF2
38 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.2 ACVRL1 ENG SMAD4
39 pseudoxanthoma elasticum 10.2
40 encephalitis 10.2
41 myocardial infarction 10.1
42 hepatitis 10.1
43 ehlers-danlos syndrome 10.1
44 encephalopathy 10.1
45 colorectal cancer 10.0
46 marfan syndrome 10.0
47 deficiency anemia 10.0
48 leukemia 10.0
49 hypogonadotropic hypogonadism 10.0
50 lymphocytic leukemia 10.0

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



Diseases related to Hereditary Hemorrhagic Telangiectasia

Symptoms & Phenotypes for Hereditary Hemorrhagic Telangiectasia

Human phenotypes related to Hereditary Hemorrhagic Telangiectasia:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 portal hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0001409
3 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
4 pulmonary embolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002204
5 transient ischemic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0002326
6 cavernous hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0001048
7 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
8 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
9 cholelithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001081
10 microcytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001935
11 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004936
12 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
13 spontaneous hematomas 59 32 frequent (33%) Frequent (79-30%) HP:0007420
14 conjunctival telangiectasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000524
15 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
16 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
17 visceral angiomatosis 59 32 frequent (33%) Frequent (79-30%) HP:0100761
18 hemoptysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002105
19 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
20 amblyopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000646
21 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000787
22 epistaxis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000421
23 hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001399
24 esophageal varix 59 32 occasional (7.5%) Occasional (29-5%) HP:0002040
25 retinal telangiectasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007763
26 subarachnoid hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002138
27 intestinal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0200008
28 cholecystitis 59 32 frequent (33%) Frequent (79-30%) HP:0001082
29 cerebral hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0001342
30 peripheral arteriovenous fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100784
31 arteriovenous malformation 59 Frequent (79-30%)
32 mucosal telangiectasiae 59 Very frequent (99-80%)
33 abnormality of the cerebral vasculature 59 Occasional (29-5%)
34 abnormality of cardiovascular system physiology 59 Frequent (79-30%)

UMLS symptoms related to Hereditary Hemorrhagic Telangiectasia:


seizures, dyspnea, cyanosis, clubbing

Drugs & Therapeutics for Hereditary Hemorrhagic Telangiectasia

Drugs for Hereditary Hemorrhagic Telangiectasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
2 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
3 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
4
Petrolatum Approved, Investigational Phase 3 8009-03-8
5
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
6
Tranexamic Acid Approved Phase 3,Phase 2 1197-18-8 5526
7 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
8 Anti-Infective Agents Phase 3,Phase 2,Phase 1
9 Antifibrinolytic Agents Phase 3,Phase 2
10 Coagulants Phase 3,Phase 2
11 Hemostatics Phase 3,Phase 2,Not Applicable
12 Soy Bean Phase 3
13
Iron Approved Phase 2,Not Applicable 7439-89-6 23925
14
Sodium Tetradecyl Sulfate Approved, Investigational Phase 1, Phase 2 1191-50-0, 139-88-8 5248 14492
15
Tamoxifen Approved Phase 2 10540-29-1 2733526
16
Timolol Approved Phase 2,Not Applicable 26839-75-8 33624 5478
17
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
18
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
19
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
20
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
21 Pharmaceutical Solutions Phase 2,Phase 1
22 Antihypertensive Agents Phase 2,Not Applicable
23 Immunosuppressive Agents Phase 2,Phase 1
24 Immunologic Factors Phase 2,Phase 1
25 Anesthetics Phase 1, Phase 2
26 Estrogen Antagonists Phase 2
27 Hormones Phase 2
28 Estrogen Receptor Antagonists Phase 2
29 Bone Density Conservation Agents Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
31 Estrogen Receptor Modulators Phase 2
32 Estrogens Phase 2
33 Selective Estrogen Receptor Modulators Phase 2
34 Hormone Antagonists Phase 2
35 Antineoplastic Agents, Hormonal Phase 2
36 Adrenergic Agents Phase 2,Not Applicable
37 Adrenergic Antagonists Phase 2,Not Applicable
38 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
39 Adrenergic beta-Antagonists Phase 2,Not Applicable
40 Anti-Arrhythmia Agents Phase 2,Not Applicable
41 Ophthalmic Solutions Phase 2
42 TEMPO Phase 2
43 Neurotransmitter Agents Phase 2,Not Applicable
44 Gastrointestinal Agents Phase 2
45 Endothelial Growth Factors Phase 2
46 Mitogens Phase 2
47 Antiparasitic Agents Phase 2
48 Antiprotozoal Agents Phase 2
49 Antimalarials Phase 2
50 Liver Extracts Phase 2

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
2 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT Unknown status NCT02963129 Phase 3 Mupirocin
3 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
4 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
5 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Completed NCT00355108 Phase 3 tranexamic acid
6 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
7 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2 Submucosal Bevacizumab
8 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2 Bevacizumab
9 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2 bevacuzimab spray
10 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
11 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
12 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
13 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO) Completed NCT02484716 Phase 2 Timolol nasal spray;Placebo nasal spray
14 Intranasal Submucosal Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01314274 Phase 2 Bevacizumab;NaCl
15 Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile Ectasia Completed NCT00004327 Phase 2 octreotide
16 North American Study of Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01408030 Phase 2 Sterile saline;Bevacizumab;Estriol;Tranexamic Acid
17 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
18 Doxycycline for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
19 Octreotide in Patients With GI Bleeding Due to Rendu-Osler-Weber Active, not recruiting NCT02874326 Phase 2 Octreotide LAR
20 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
21 Evaluation of Pazopanib on Bleeding in Subjects With Hereditary Haemorrhagic Telangiectasia Terminated NCT02204371 Phase 2 Pazopanib;Placebo
22 MRA With Feraheme in HHT Completed NCT02977637 Phase 1
23 The ELLIPSE Study: A Phase-1 Study Evaluating the Tolerance of Bevacizumab Nasal Spray to Treat Epistaxis in Hereditary Hemorrhagic Telangiectasia Completed NCT01507480 Phase 1 Bevacizumab
24 Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I Study Recruiting NCT02287558 Phase 1 Pomalidomide
25 Ranibizumab for the Management of Recurrent Nosebleeds in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
26 Iron Deficiency and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01908543 Not Applicable Ferrous sulphate 200mg oral tablet
27 Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015 Not Applicable
28 Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
29 Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00733629
30 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
31 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs Unknown status NCT02436213 Not Applicable
32 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs With and Without Airflow Obstruction Unknown status NCT02458703 Not Applicable
33 Studies of White Blood Cells Derived From HHT Patients Unknown status NCT00230633
34 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan
35 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
36 Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
37 Hereditary Haemorrhagic Telangiectasia Flight Safety Study Completed NCT01590121
38 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
39 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
40 Frequency of Common Medical Conditions in People With and Without HHT Completed NCT02464644 Not Applicable
41 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659
42 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT03572556
43 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia Recruiting NCT01158807
44 Graded TTCE for Post-Embolization PAVM Monitoring Recruiting NCT02936349
45 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With (HHT) Recruiting NCT02638012 Not Applicable Floseal
46 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
47 Minimal Hepatic Encephalopathy in Hereditary Hemorrhagic Telangiectasian Recruiting NCT03586115
48 Immunmodulation in Patients With HHT Recruiting NCT02983253
49 Registry for Vascular Anomalies Associated With Coagulopathy Recruiting NCT00576888
50 Reperfusion of Pulmonary Arteriovenous Malformations After Embolotherapy Recruiting NCT01856842 Not Applicable

Search NIH Clinical Center for Hereditary Hemorrhagic Telangiectasia

Cochrane evidence based reviews: telangiectasia, hereditary hemorrhagic

Genetic Tests for Hereditary Hemorrhagic Telangiectasia

Genetic tests related to Hereditary Hemorrhagic Telangiectasia:

# Genetic test Affiliating Genes
1 Osler Hemorrhagic Telangiectasia Syndrome 29 ENG

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

41
Liver, Brain, Skin, Lung, Heart, Testes, Endothelial
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hereditary Hemorrhagic Telangiectasia:
# Tissue Anatomical CompartmentCell Relevance
1 Lateral Plate Mesoderm Splanchnic Mesoderm Mural Cells Potential therapeutic candidate

Publications for Hereditary Hemorrhagic Telangiectasia

Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50) (show all 1077)
# Title Authors Year
1
Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. ( 30260738 )
2019
2
PTEN (Phosphatase and Tensin Homolog) Connection in Hereditary Hemorrhagic Telangiectasia 2. ( 29695532 )
2018
3
The Current Role of Bevacizumab in the TreatmentA of Hereditary Hemorrhagic Telangiectasia-RelatedA Bleeding. ( 29395348 )
2018
4
Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia: An Evidence-based Review. ( 29745243 )
2018
5
Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia, HHT) ( 29493983 )
2018
6
The clinical characteristics and long-term prognosis of pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia. ( 29480092 )
2018
7
Hereditary Hemorrhagic Telangiectasia: Cinematic Rendering of Hepatic Arteriovenous Malformations. ( 29916781 )
2018
8
Vitamin D levels are associated with epistaxis severity and bleeding duration in hereditary hemorrhagic telangiectasia. ( 29537299 )
2018
9
Radiofrequency for Treatment of Refractory Epistaxis in Hereditary Hemorrhagic Telangiectasia. ( 29573771 )
2018
10
Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia. ( 29932521 )
2018
11
Pazopanib effective for bevacizumab-unresponsive epistaxis in hereditary hemorrhagic telangiectasia. ( 29451965 )
2018
12
Prenatal care and labor in patients with MESENCHIMAL dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ( 29938556 )
2018
13
Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective. ( 29794143 )
2018
14
Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site. ( 29305977 )
2018
15
Probiotics and infective endocarditis in patients with hereditary hemorrhagic telangiectasia: a clinical case and a review of the literature. ( 29390976 )
2018
16
Evolution of Intrahepatic Shunts in a Patient With Hereditary Hemorrhagic Telangiectasia. ( 29868721 )
2018
17
Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia. ( 29339534 )
2018
18
Impact of Age on Outcomes in Hospitalized Patients with Hereditary Hemorrhagic Telangiectasia. ( 29610574 )
2018
19
Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study. ( 29281110 )
2018
20
Clinical presentation and treatment paradigms in patients with hereditary hemorrhagic telangiectasia and spinal vascular malformations. ( 29398197 )
2018
21
Applicability of the CuraAsao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population. ( 29655863 )
2018
22
Life expectancy and comorbidities in patients with hereditary hemorrhagic telangiectasia. ( 29781402 )
2018
23
Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. ( 29483005 )
2018
24
Endothelial cell biology of Endoglin in hereditary hemorrhagic telangiectasia. ( 29438260 )
2018
25
Re-treatment versus extended treatment strategy of systemic bevacizumab in hereditary hemorrhagic telangiectasia: which is better? ( 29656313 )
2018
26
Thalidomide for the Management of Bleeding Episodes in Patients with Hereditary Hemorrhagic Telangiectasia, Effects on Epistaxis Severity Score and Quality of Life. ( 29880465 )
2018
27
Hereditary Hemorrhagic Telangiectasia. ( 29217066 )
2018
28
Medical treatment of epistaxis in hereditary hemorrhagic telangiectasia: an evidence-based review. ( 29393992 )
2018
29
Pulmonary arteriovenous malformations in children with hereditary hemorrhagic telangiectasia: a longitudinal study. ( 29916764 )
2018
30
Novel mutation c.263A>G in the ACVRL1 gene in a Japanese patient with hereditary hemorrhagic telangiectasia 2. ( 29923633 )
2018
31
Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families. ( 29736967 )
2018
32
Intravenous Bevacizumab for Refractory Hereditary Hemorrhagic Telangiectasia-Related Epistaxis and Gastrointestinal Bleeding. ( 29395350 )
2018
33
Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm. ( 30210120 )
2018
34
A pial arteriovenous fistula in infancy as the presenting manifestation of hereditary hemorrhagic telangiectasia. ( 30391600 )
2018
35
Cutaneous collagenous vasculopathy: Differential diagnosis of primary telangiectasia as generalized essential telangiectasia, hereditary hemorrhagic telangiectasia, and hereditary benign telangiectasia. ( 30355073 )
2018
36
Hyperammonemic encephalopathy associated with hereditary hemorrhagic telangiectasia. ( 30447907 )
2018
37
A case report of hepatopulmonary syndrome in hereditary hemorrhagic telangiectasia (HHT): Not all right-to-left shunting in HHT is due to pulmonary arteriovenous malformations. ( 30095617 )
2018
38
Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study. ( 28973426 )
2018
39
Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia. ( 29048420 )
2018
40
Coronary Angiography and Interventions in Patients With Hereditary Hemorrhagic Telangiectasia. ( 29133188 )
2018
41
Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia. ( 29460088 )
2018
42
Systematic screening in hereditary hemorrhagic telangiectasia: a review. ( 29470256 )
2018
43
Liver involvement in hereditary hemorrhagic telangiectasia. ( 29987403 )
2018
44
Characteristics and outcomes of venous thromboembolism in patients with hereditary hemorrhagic telangiectasia. ( 30015226 )
2018
45
The Impact of Small Bowel Endoscopy in Patients with Hereditary Hemorrhagic Telangiectasia ( 30040069 )
2018
46
Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: clinical aspects. ( 30057878 )
2018
47
The effects of nasal closure on quality of life in patients with hereditary hemorrhagic telangiectasia. ( 30062132 )
2018
48
A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. ( 30073140 )
2018
49
Clinical features and treatment of hereditary hemorrhagic telangiectasia. ( 30075565 )
2018
50
Soluble endoglin regulates expression of angiogenesis-related proteins and induction of arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia. ( 30108051 )
2018

Variations for Hereditary Hemorrhagic Telangiectasia

ClinVar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

6 (show top 50) (show all 927)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENG NM_000118.3(ENG): c.831C> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121918400 GRCh37 Chromosome 9, 130587239: 130587239
2 ENG NM_000118.3(ENG): c.831C> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121918400 GRCh38 Chromosome 9, 127824960: 127824960
3 ENG ENG, 39-BP DEL, NT882 deletion Pathogenic
4 ENG ENG, 2-BP DEL, NT1153 deletion Pathogenic
5 ENG ENG, IVS3DS, A-G, +4 single nucleotide variant Pathogenic
6 ENG ENG, IVS3DS, G-A, +1 deletion Pathogenic
7 ENG NM_000118.3(ENG): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs267606783 GRCh37 Chromosome 9, 130616633: 130616633
8 ENG NM_000118.3(ENG): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs267606783 GRCh38 Chromosome 9, 127854354: 127854354
9 ENG NM_000118.3(ENG): c.1238G> T (p.Gly413Val) single nucleotide variant Pathogenic rs121918401 GRCh37 Chromosome 9, 130582213: 130582213
10 ENG NM_000118.3(ENG): c.1238G> T (p.Gly413Val) single nucleotide variant Pathogenic rs121918401 GRCh38 Chromosome 9, 127819934: 127819934
11 ENG ENG, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
12 ENG NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh37 Chromosome 9, 130591966: 130591966
13 ENG NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh38 Chromosome 9, 127829687: 127829687
14 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh37 Chromosome 18, 48575160: 48575160
15 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh38 Chromosome 18, 51048790: 51048790
16 SMAD4 NM_005359.5(SMAD4): c.1573A> G (p.Ile525Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149755320 GRCh37 Chromosome 18, 48604751: 48604751
17 SMAD4 NM_005359.5(SMAD4): c.1573A> G (p.Ile525Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149755320 GRCh38 Chromosome 18, 51078381: 51078381
18 SMAD4 NM_005359.5(SMAD4): c.424+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200772603 GRCh38 Chromosome 18, 51048865: 51048865
19 SMAD4 NM_005359.5(SMAD4): c.424+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200772603 GRCh37 Chromosome 18, 48575235: 48575235
20 SMAD4 NM_005359.5(SMAD4): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs1801250 GRCh37 Chromosome 18, 48591923: 48591923
21 SMAD4 NM_005359.5(SMAD4): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs1801250 GRCh38 Chromosome 18, 51065553: 51065553
22 ACVRL1 NM_000020.2(ACVRL1): c.313+11C> T single nucleotide variant Benign rs2071218 GRCh37 Chromosome 12, 52307145: 52307145
23 ACVRL1 NM_000020.2(ACVRL1): c.313+11C> T single nucleotide variant Benign rs2071218 GRCh38 Chromosome 12, 51913361: 51913361
24 ENG NM_000118.3(ENG): c.207G> A (p.Leu69=) single nucleotide variant Benign/Likely benign rs11545664 GRCh37 Chromosome 9, 130605385: 130605385
25 ENG NM_000118.3(ENG): c.207G> A (p.Leu69=) single nucleotide variant Benign/Likely benign rs11545664 GRCh38 Chromosome 9, 127843106: 127843106
26 ENG NM_000118.3(ENG): c.1029C> T (p.Thr343=) single nucleotide variant Benign/Likely benign rs3739817 GRCh37 Chromosome 9, 130586688: 130586688
27 ENG NM_000118.3(ENG): c.1029C> T (p.Thr343=) single nucleotide variant Benign/Likely benign rs3739817 GRCh38 Chromosome 9, 127824409: 127824409
28 ENG NM_000118.3(ENG): c.1060C> T (p.Leu354=) single nucleotide variant Benign/Likely benign rs36092484 GRCh37 Chromosome 9, 130586657: 130586657
29 ENG NM_000118.3(ENG): c.1060C> T (p.Leu354=) single nucleotide variant Benign/Likely benign rs36092484 GRCh38 Chromosome 9, 127824378: 127824378
30 SMAD4 NM_005359.5(SMAD4): c.455-6A> G single nucleotide variant Benign/Likely benign rs181178864 GRCh38 Chromosome 18, 51054775: 51054775
31 SMAD4 NM_005359.5(SMAD4): c.455-6A> G single nucleotide variant Benign/Likely benign rs181178864 GRCh37 Chromosome 18, 48581145: 48581145
32 SMAD4 NM_005359.5(SMAD4): c.*11C> T single nucleotide variant Benign/Likely benign rs11663402 GRCh38 Chromosome 18, 51078478: 51078478
33 SMAD4 NM_005359.5(SMAD4): c.*11C> T single nucleotide variant Benign/Likely benign rs11663402 GRCh37 Chromosome 18, 48604848: 48604848
34 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Likely benign rs148002300 GRCh37 Chromosome 9, 130578230: 130578230
35 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Likely benign rs148002300 GRCh38 Chromosome 9, 127815951: 127815951
36 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh37 Chromosome 9, 130580575: 130580575
37 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh38 Chromosome 9, 127818296: 127818296
38 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh37 Chromosome 9, 130588023: 130588023
39 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh38 Chromosome 9, 127825744: 127825744
40 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh37 Chromosome 9, 130588920: 130588920
41 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh38 Chromosome 9, 127826641: 127826641
42 ENG NM_000118.3(ENG): c.1273-2A> G single nucleotide variant Pathogenic rs373842615 GRCh37 Chromosome 9, 130581941: 130581941
43 ENG NM_000118.3(ENG): c.1273-2A> G single nucleotide variant Pathogenic rs373842615 GRCh38 Chromosome 9, 127819662: 127819662
44 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh37 Chromosome 9, 130586621: 130586621
45 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh38 Chromosome 9, 127824342: 127824342
46 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh38 Chromosome 9, 127854342: 127854342
47 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh37 Chromosome 9, 130616621: 130616621
48 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh37 Chromosome 9, 130592067: 130592067
49 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh38 Chromosome 9, 127829788: 127829788
50 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh38 Chromosome 18, 51058134: 51058134

Expression for Hereditary Hemorrhagic Telangiectasia

Search GEO for disease gene expression data for Hereditary Hemorrhagic Telangiectasia.

Pathways for Hereditary Hemorrhagic Telangiectasia

Pathways related to Hereditary Hemorrhagic Telangiectasia according to KEGG:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

# Super pathways Score Top Affiliating Genes
1 11.11 ACVRL1 ENG SMAD4
2 10.55 ENG SMAD4
3
Show member pathways
10.23 ACVRL1 GDF2 SMAD4

GO Terms for Hereditary Hemorrhagic Telangiectasia

Biological processes related to Hereditary Hemorrhagic Telangiectasia according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of angiogenesis GO:0045766 9.73 ACVRL1 ENG GDF2
2 negative regulation of cell growth GO:0030308 9.7 ACVRL1 GDF2 SMAD4
3 negative regulation of endothelial cell proliferation GO:0001937 9.59 ACVRL1 GDF2
4 blood vessel morphogenesis GO:0048514 9.58 ACVRL1 GDF2
5 branching involved in blood vessel morphogenesis GO:0001569 9.58 ENG GDF2
6 outflow tract septum morphogenesis GO:0003148 9.57 ENG SMAD4
7 negative regulation of endothelial cell migration GO:0010596 9.55 ACVRL1 GDF2
8 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.54 ENG SMAD4
9 positive regulation of endothelial cell differentiation GO:0045603 9.51 ACVRL1 GDF2
10 cellular response to BMP stimulus GO:0071773 9.5 ACVRL1 GDF2 SMAD4
11 activin receptor signaling pathway GO:0032924 9.49 ACVRL1 GDF2
12 endocardial cushion morphogenesis GO:0003203 9.48 ACVRL1 ENG
13 negative regulation of DNA biosynthetic process GO:2000279 9.46 ACVRL1 GDF2
14 BMP signaling pathway GO:0030509 9.46 ACVRL1 ENG GDF2 SMAD4
15 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.43 ENG SMAD4
16 response to transforming growth factor beta GO:0071559 9.4 ENG SMAD4
17 dorsal aorta morphogenesis GO:0035912 9.37 ACVRL1 ENG
18 endocardial cushion to mesenchymal transition GO:0090500 9.26 ACVRL1 ENG
19 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.26 ACVRL1 ENG GDF2 SMAD4
20 positive regulation of BMP signaling pathway GO:0030513 8.92 ACVRL1 ENG GDF2 SMAD4

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 8.96 ACVRL1 ENG
2 activin binding GO:0048185 8.62 ACVRL1 ENG

Sources for Hereditary Hemorrhagic Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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