HHT
MCID: HRD008
MIFTS: 65

Hereditary Hemorrhagic Telangiectasia (HHT)

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

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

MalaCards integrated aliases for Hereditary Hemorrhagic Telangiectasia:

Name: Hereditary Hemorrhagic Telangiectasia 12 74 25 20 43 58 36 29 6 15 71
Hht 25 20 43 58
Rendu-Osler-Weber Disease 12 20 58
Telangiectasia, Hereditary Hemorrhagic 74 44
Osler-Weber-Rendu Disease 12 25
Osler Hemorrhagic Telangiectasia Syndrome 12
Telangiectasia Hemorrhagic, Hereditary 39
Telangiectasia Hereditary Hemorrhagic 54
Osler Weber Rendu Syndrome 20
Osler-Weber-Rendu Syndrome 43
Osler-Rendu-Weber Disease 20
Rendu-Osler Disease 58
Orw Disease 20

Characteristics:

Orphanet epidemiological data:

58
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:

25
Penetrance Hht displays age-related penetrance with increased manifestations developing over a lifetime....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare hepatic diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Hereditary Hemorrhagic Telangiectasia

MedlinePlus Genetics : 43 Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through the arteries to the smaller vessels (arterioles and capillaries) that supply oxygen to the body's tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillaries into veins, through which it eventually returns to the heart.In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly into veins rather than into the capillaries. These abnormalities are called arteriovenous malformations. When they occur in vessels near the surface of the skin, where they are visible as red markings, they are known as telangiectases (the singular is telangiectasia).Without the normal buffer of the capillaries, the blood moves from the arteries at high pressure into the thinner walled, less elastic veins. The extra pressure tends to strain and enlarge these blood vessels, and may result in compression or irritation of adjacent tissues and frequent episodes of severe bleeding (hemorrhage). Nosebleeds are very common in people with hereditary hemorrhagic telangiectasia, and more serious problems may arise from hemorrhages in the brain, liver, lungs, or other organs.There are several forms of hereditary hemorrhagic telangiectasia, distinguished mainly by their genetic cause but with some differences in patterns of signs and symptoms. People with type 1 tend to develop symptoms earlier than those with type 2, and are more likely to have blood vessel malformations in the lungs and brain. Type 2 and type 3 may be associated with a higher risk of liver involvement. Women are more likely than men to develop blood vessel malformations in the lungs with type 1, and are also at higher risk of liver involvement with both type 1 and type 2. Individuals with any form of hereditary hemorrhagic telangiectasia, however, can have any of these problems.Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. Hereditary hemorrhagic telangiectasia types 1, 2 and 3 do not appear to increase the likelihood of such polyps.

MalaCards based summary : Hereditary Hemorrhagic Telangiectasia, also known as hht, is related to juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 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 endothelial, and related phenotypes are telangiectasia of the skin and epistaxis

Disease Ontology : 12 A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.

GARD : 20 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.

KEGG : 36 Hereditary hemorrhagic telangiectasia (HHT), also known as Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal telangiectases. HHT is often associated with arteriovenous malformations in the pulmonary, hepatic, cerebral, and spinal circulations. The disease arises from defects in TGF-beta signaling. It has been reported that mutations in SMAD4 cause the combined juvenile polyposis and HHT (JPHT) syndrome.

Wikipedia : 74 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 293)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 33.5 SMAD4 GDF2 ENG ACVRL1
2 telangiectasis 32.9 SMAD4 GDF2 ENG ACVRL1
3 telangiectasia, hereditary hemorrhagic, type 2 32.8 ENG ACVRL1
4 pulmonary arteriovenous malformation 32.7 LOC102723566 ENG ACVRL1
5 arteriovenous malformation 32.6 SMAD4 ENG ACVRL1
6 pulmonary hypertension, primary, 1 32.2 ENG ACVRL1
7 weber syndrome 31.5 ENG ACVRL1
8 angiodysplasia 31.3 ENG ACVRL1
9 heritable pulmonary arterial hypertension 30.9 GDF2 ENG ACVRL1
10 hepatopulmonary syndrome 30.9 GDF2 ENG ACVRL1
11 telangiectasia, hereditary hemorrhagic, type 1 11.8
12 telangiectasia, hereditary hemorrhagic, type 4 11.6
13 telangiectasia, hereditary hemorrhagic, type 3 11.6
14 pulmonary arteriovenous fistulas 11.5
15 telangiectasia, hereditary hemorrhagic, type 5 11.2
16 deficiency anemia 10.7
17 iron metabolism disease 10.7
18 pulmonary hypertension 10.7
19 portal hypertension 10.7
20 vascular disease 10.7
21 iron deficiency anemia 10.6
22 aneurysm 10.6
23 active peptic ulcer disease 10.6
24 arteriovenous malformations of the brain 10.5
25 cyanosis, transient neonatal 10.5
26 encephalopathy 10.5
27 transient cerebral ischemia 10.5
28 liver disease 10.5
29 cholangitis 10.5
30 juvenile polyposis syndrome 10.5
31 hepatic encephalopathy 10.5
32 liver cirrhosis 10.5
33 migraine with or without aura 1 10.4
34 hemangioma 10.4
35 congestive heart failure 10.4
36 pulmonary embolism 10.4
37 pulmonary venoocclusive disease 10.4 GDF2 ENG ACVRL1
38 hepatic coma 10.4
39 generalized juvenile polyposis/juvenile polyposis coli 10.4 SMAD4 ENG
40 cardiovascular organ benign neoplasm 10.4 SMAD4 GDF2 ENG ACVRL1
41 polycythemia 10.4
42 aortic valve disease 2 10.4
43 carbonic anhydrase va deficiency, hyperammonemia due to 10.4
44 microcytic anemia 10.4
45 constrictive pericarditis 10.4
46 pericarditis 10.4
47 specific language disorder 10.4
48 pulmonary arterial hypertension associated with congenital heart disease 10.3 LOC102723566 ENG
49 thrombophilia due to thrombin defect 10.3
50 varicose veins 10.3

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:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
2 epistaxis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000421
3 portal hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0001409
4 microcytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001935
5 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
6 spontaneous hematomas 58 31 frequent (33%) Frequent (79-30%) HP:0007420
7 visceral angiomatosis 58 31 frequent (33%) Frequent (79-30%) HP:0100761
8 cavernous hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0001048
9 cholecystitis 58 31 frequent (33%) Frequent (79-30%) HP:0001082
10 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
11 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
12 cholelithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001081
13 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
14 conjunctival telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000524
15 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
16 transient ischemic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0002326
17 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002105
18 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
19 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
20 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
21 hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001399
22 esophageal varix 58 31 occasional (7.5%) Occasional (29-5%) HP:0002040
23 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
24 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
25 subarachnoid hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002138
26 intestinal polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0200008
27 cerebral hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0001342
28 retinal telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007763
29 peripheral arteriovenous fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0100784
30 seizure 31 occasional (7.5%) HP:0001250
31 seizures 58 Occasional (29-5%)
32 arteriovenous malformation 58 Frequent (79-30%)
33 mucosal telangiectasiae 58 Very frequent (99-80%)
34 abnormality of the cerebral vasculature 58 Occasional (29-5%)
35 abnormality of cardiovascular system physiology 58 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 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3
2 Angiogenesis Inhibitors Phase 4
3 Antineoplastic Agents, Immunological Phase 4
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 1197-18-8 5526
7
Propranolol Approved, Investigational Phase 3 525-66-6 4946
8 Soy Bean Phase 3
9 Hemostatics Phase 3
10 Coagulants Phase 3
11 Antifibrinolytic Agents Phase 3
12 Adrenergic Antagonists Phase 3
13 Adrenergic beta-Antagonists Phase 3
14 Antihypertensive Agents Phase 3
15 Neurotransmitter Agents Phase 3
16 Adrenergic Agents Phase 3
17 Anti-Arrhythmia Agents Phase 3
18 Vasodilator Agents Phase 3
19
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
20
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
21
Tamoxifen Approved Phase 2 10540-29-1 2733526
22
Sodium Tetradecyl Sulfate Approved, Investigational Phase 1, Phase 2 139-88-8, 1191-50-0 14492 5248
23
Pomalidomide Approved Phase 2 19171-19-8
24
Timolol Approved Phase 2 26839-75-8 33624 5478
25
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
26
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
27
tannic acid Approved Phase 2 1401-55-4
28
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
29
Iron Approved Phase 2 7439-89-6 23925 29936
30
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
31
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
32 Hormones Phase 2
33 Antineoplastic Agents, Hormonal Phase 2
34 Gastrointestinal Agents Phase 2
35 Pharmaceutical Solutions Phase 2
36 Estrogen Antagonists Phase 2
37 Estrogens Phase 2
38 Hormone Antagonists Phase 2
39 Estrogen Receptor Antagonists Phase 2
40 Estrogen Receptor Modulators Phase 2
41 Anti-Bacterial Agents Phase 2
42 Anesthetics Phase 1, Phase 2
43 Sclerosing Solutions Phase 1, Phase 2
44 Ophthalmic Solutions Phase 2
45 TEMPO Phase 2
46 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
47 Mitogens Phase 2
48 Endothelial Growth Factors Phase 2
49 Immunosuppressive Agents Phase 2
50 Calcineurin Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 68)
# Name Status NCT ID Phase Drugs
1 Intranasal Bevacizumab for HHT-Related Epistaxis Completed NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
2 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
3 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
4 Efficacy of Tranexamic Acid Taken Orally in Patients With Hereditary Hemorrhagic Telangiectasia Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
5 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome. Beneficial or Iatrogenic Effects. Completed NCT00355108 Phase 3 tranexamic acid
6 Study of the Efficacy of Propranolol for the Management of Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients Recruiting NCT04113187 Phase 3 Propranolol treatment;Placebo
7 Randomized Double Blind Study to Evaluate the Effect of Low Dose Pazopanib on Bleeding Due to Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT03850964 Phase 2, Phase 3 Pazopanib;Placebo oral capsule
8 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
9 An Uncontrolled, Pilot-study Assessing the Efficacy of Octreotide Long-acting Release to Decrease Transfusion Requirements and Endoscopy Frequency in Patients With Rendu-Osler-Weber and Gastrointestinal Bleeding Unknown status NCT02874326 Phase 2 Octreotide LAR
10 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
11 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01402531 Phase 2 Submucosal Bevacizumab
12 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01397695 Phase 2 Bevacizumab
13 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
14 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
15 A Randomized Double Blind Placebo Controlled Trial of Intranasal Submucosal Bevacizumab in Hereditary Hemorrhagic Telangiectasia Completed NCT01314274 Phase 2 Bevacizumab;NaCl
16 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
17 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - Randomized Trial Versus Placebo Completed NCT02484716 Phase 2 Timolol nasal spray;Placebo nasal spray
18 North American Study of Epistaxis in HHT (NOSE) Completed NCT01408030 Phase 2 Sterile saline;Bevacizumab;Estriol;Tranexamic Acid
19 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
20 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Recruiting NCT02157987 Phase 1, Phase 2 bevacuzimab spray
21 Pomalidomide for the Treatment of Bleeding in Hereditary Hemorrhagic Telangiectasia Recruiting NCT03910244 Phase 2 Pomalidomide Oral Product;Placebo oral capsule
22 Tacrolimus Crossover Trial for Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT04646356 Phase 2 Tacrolimus capsule (low-dose);Placebo
23 Efficacy of a Timolol Gel in the Care for Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia: A Double-Blinded, Randomized Controlled Trial Recruiting NCT04139018 Phase 2 Timolol Gel;Placebo Gel
24 Doxycycline Crossover Trial for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
25 Vitamin D Supplementation and Reduction of Severity and Frequency of Epistaxis in Hereditary Haemorrhagic Telangiectasia Recruiting NCT03981562 Phase 2 Vit D;Placebo Oral Tablet
26 An Open-label, Non-randomized Study of the Efficacy of Pazopanib for the Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Not yet recruiting NCT03850730 Phase 1, Phase 2 Pazopanib
27 A Phase 2 Study of Bevacizumab for Chronic Bleeding and Iron Deficiency Anemia in Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT04404881 Phase 2 Bevacizumab
28 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
29 A Phase II Study to Evaluate the Effects of up to 12 Weeks of Pazopanib Dosing on Bleeding in Subjects With Hereditary Haemorrhagic Telangiectasia Terminated NCT02204371 Phase 2 Pazopanib;Placebo
30 A Phase I Single Arm Study to Assess the Safety and Efficacy of Pomalidomide in Patients With Bleeding Due to Hereditary Hemorrhagic Telangiectasia and Refractory Angiodysplasia Completed NCT02287558 Phase 1 Pomalidomide
31 The Use of Ferumoxytol (Feraheme) for Whole Body Magnetic Resonance Angiography in Hereditary Hemorrhagic Telangiectasia Completed NCT02977637 Phase 1
32 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
33 Ranibizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
34 A Questionnaire Based Study on Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT02690246
35 Hammersmith Hospital Patients With Pulmonary Arteriovenous Malformations (PAVMs) and Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
36 Studies of Plasma Proteins Derived From Pulmonary Arteriovenous Malformation Patients Unknown status NCT00230672
37 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations Unknown status NCT00230620
38 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
39 A Questionnaire Study on Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015
40 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
41 Studies of Hereditary Hemorrhagic Telangiectasia: Screening Methods for Pulmonary Arteriovenous Malformations; Prevalence of Pulmonary and Cerebral Arteriovenous Malformations; Prevalence of Cardiac Valve Abnormalities; and Identification of Modifier Genes Completed NCT00004648
42 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
43 Illness Perceptions and the Health Belief Model: Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
44 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT03572556
45 Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept Completed NCT01752049 Topical timolol maleate;placebo saline drops
46 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT02638012 Floseal
47 A Questionnaire Study on Hereditary Hemorrhagic Telangiectasia (HHT) and Other Medical Conditions, Compared to the General Population Completed NCT02464644
48 Correlation of Graded Transthoracic Contrast Echocardiography With Chest CT Findings After Pulmonary Arteriovenous Malformation Embolization in Patients With Hereditary Hemorrhagic Telangiectasia, 2016 Completed NCT02936349
49 Development of a Quality of Life Measurement Scale in Hereditary Haemorrhagic Telangiectasia (HHT) Disease. Completed NCT03695874
50 Recurrence of Hereditary Hemorrhagic Telangiectasia (HHT) After Liver Transplantation: Clinical Implications and Physiopathological Insights. Completed NCT03942315

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 Hereditary Hemorrhagic Telangiectasia 29

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

40
Liver, Endothelial, Eye, Brain, Heart, Skin, Spinal Cord
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 2225)
# Title Authors PMID Year
1
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. 54 61 25 6
9366572 1997
2
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 25 54 6 61
9245985 1997
3
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. 25 6 61
23972370 2013
4
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. 61 25 6
9554745 1998
5
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. 6 54 61
18285823 2008
6
Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. 6 25
15521985 2004
7
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 61 54 6
15024723 2004
8
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. 6 54 61
11484689 2001
9
Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. 61 54 6
11170071 2001
10
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. 6 54 61
10982033 2000
11
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. 6 54 61
10767348 2000
12
Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. 61 54 6
9245986 1997
13
Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. 54 25 61
20056902 2010
14
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 61 54 25
20101697 2010
15
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. 25 54 61
18792970 2008
16
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. 25 54 61
16752392 2006
17
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. 61 54 25
16705692 2006
18
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 54 61 25
16470787 2006
19
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 61 54 25
15517393 2005
20
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia. 6
30244195 2018
21
Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. 61 25
27599329 2016
22
Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia: A Randomized Clinical Trial. 25 61
27599328 2016
23
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. 25 61
25674101 2015
24
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. 25 61
24525918 2014
25
Very low dose bevacizumab for the treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia. 61 25
25199101 2014
26
Genetics and genomics of pulmonary arterial hypertension. 61 25
24355637 2013
27
Efficacy of a topical sesame/rose geranium oil compound in patients with hereditary hemorrhagic telangiectasia associated epistaxis. 25 61
23401038 2013
28
Systemic therapy with bevacizumab in patients with hereditary hemorrhagic telangiectasia (HHT). 61 25
23485837 2013
29
Antiplatelet and anticoagulant agents in hereditary hemorrhagic telangiectasia. 25 61
23445111 2013
30
The Young's procedure for severe epistaxis from hereditary hemorrhagic telangiectasia. 61 25
23168156 2012
31
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 61 25
22810475 2012
32
Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia. 25 61
22281938 2012
33
Topical timolol for the treatment of epistaxis in hereditary hemorrhagic telangiectasia. 25 61
22079094 2012
34
Local sclerotherapy with polydocanol (Aethoxysklerol®) for the treatment of Epistaxis in Rendu-Osler-Weber or Hereditary Hemorrhagic Telangiectasia (HHT): 15 years of experience. 61 25
22469609 2012
35
Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. 61 25
22396517 2012
36
Intranasal tranexamic acid for the treatment of hereditary hemorrhagic telangiectasia: a case report and review of treatment options. 61 25
22474728 2012
37
Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment. 61 25
22034007 2012
38
Office-based sclerotherapy for recurrent epistaxis due to hereditary hemorrhagic telangiectasia: a pilot study. 61 25
22287439 2011
39
Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. 25 61
21290179 2011
40
Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. 25 61
21546842 2011
41
Anti-VEGF with 3-week intervals is effective on anemia in a patient with severe hereditary hemorrhagic telangiectasia. 61 25
20824275 2011
42
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 61 25
21158752 2011
43
Long-term therapy with bevacizumab in hereditary hemorrhagic telangiectasia. 61 25
21323562 2011
44
Hepatic arteriovenous malformations from hereditary hemorrhagic telangiectasia: treatment with liver transplantation. 25 61
20844961 2010
45
PAVM embolization: an update. 25 61
20858807 2010
46
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 61 25
20414677 2010
47
High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia. 25 61
20170910 2010
48
Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. 61 25
20364125 2010
49
Long-term outcome of patients with hereditary hemorrhagic telangiectasia and severe hepatic involvement after orthotopic liver transplantation: a single-center study. 61 25
20209594 2010
50
Hereditary hemorrhagic telangiectasia/avastin. 25 61
19998344 2010

Variations for Hereditary Hemorrhagic Telangiectasia

ClinVar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

6 (show top 50) (show all 1126)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ENG NM_000118.3(ENG):c.831C>G (p.Tyr277Ter) SNV Pathogenic 16668 rs121918400 9:130587239-130587239 9:127824960-127824960
2 ENG ENG, 39-BP DEL, NT882 Deletion Pathogenic 16669
3 ENG ENG, 2-BP DEL, NT1153 Deletion Pathogenic 16670
4 ENG NM_000118.3(ENG):c.2T>C (p.Met1Thr) SNV Pathogenic 16673 rs267606783 9:130616633-130616633 9:127854354-127854354
5 ENG NM_000118.3(ENG):c.1238G>T (p.Gly413Val) SNV Pathogenic 16674 rs121918401 9:130582213-130582213 9:127819934-127819934
6 ENG NM_000118.3(ENG):c.67+1G>A SNV Pathogenic 449321 rs1554813783 9:130616567-130616567 9:127854288-127854288
7 ENG NM_000118.3(ENG):c.67del (p.Ser23fs) Deletion Pathogenic 237029 rs878853658 9:130616568-130616568 9:127854289-127854289
8 ENG NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) Deletion Pathogenic 213214 rs863223540 9:130586634-130586637 9:127824355-127824358
9 ENG NC_000009.12:g.(?_127843094)_(127843245_?)del Deletion Pathogenic 417396 9:130605373-130605524 9:127843094-127843245
10 ENG NM_000118.3(ENG):c.1199del (p.Gly400fs) Deletion Pathogenic 407136 rs1060501422 9:130582252-130582252 9:127819973-127819973
11 ENG NM_000118.3(ENG):c.1415_1424del (p.Gln472fs) Deletion Pathogenic 407117 rs1060501412 9:130580999-130581008 9:127818720-127818729
12 ENG NM_001114753.2(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) Indel Pathogenic 407120 rs1064792934 9:130586657-130586688 9:127824378-127824409
13 LOC102723566 NC_000009.12:g.(?_127815012)_(127854773_?)del Deletion Pathogenic 417397 9:130577291-130617052 9:127815012-127854773
14 ENG NM_000118.3(ENG):c.904G>T (p.Glu302Ter) SNV Pathogenic 407132 rs1060501419 9:130587166-130587166 9:127824887-127824887
15 LOC102723566 Deletion Pathogenic 437433 9:130577648-130605372 9:127815369-127843093
16 ENG NM_000118.3(ENG):c.1428+2T>A SNV Pathogenic 458337 rs863223543 9:130580993-130580993 9:127818714-127818714
17 ENG NM_000118.3(ENG):c.808C>T (p.Gln270Ter) SNV Pathogenic 458355 rs1554810215 9:130587518-130587518 9:127825239-127825239
18 ENG NM_000118.3(ENG):c.1311G>C (p.Arg437=) SNV Pathogenic 458335 rs1554809448 9:130581901-130581901 9:127819622-127819622
19 ENG NM_000118.3(ENG):c.1672_1684del (p.Gly558fs) Deletion Pathogenic 458340 rs1554809229 9:130580401-130580413 9:127818122-127818134
20 ENG NM_000118.3(ENG):c.244del (p.Leu82fs) Deletion Pathogenic 458345 rs1554810921 9:130592082-130592082 9:127829803-127829803
21 ENG NC_000009.12:g.(?_127843088)_(127843251_?)del Deletion Pathogenic 458322 9:130605367-130605530 9:127843088-127843251
22 ENG NM_000118.3(ENG):c.1015_1024del (p.Ala339fs) Deletion Pathogenic 478821 rs1554810066 9:130586693-130586702 9:127824414-127824423
23 ENG NM_000118.3(ENG):c.1286dup (p.Leu430fs) Duplication Pathogenic 458333 rs1554809455 9:130581925-130581926 9:127819646-127819647
24 ENG NM_000118.3(ENG):c.816+6T>C SNV Pathogenic 453308 rs759191907 9:130587504-130587504 9:127825225-127825225
25 ENG NM_000118.3(ENG):c.904dup (p.Glu302fs) Duplication Pathogenic 458356 rs1554810177 9:130587165-130587166 9:127824886-127824887
26 ENG NM_000118.3(ENG):c.782G>A (p.Trp261Ter) SNV Pathogenic 458353 rs1060501420 9:130587544-130587544 9:127825265-127825265
27 ENG NM_000118.3(ENG):c.1311dupG Duplication Pathogenic 458334 rs1554809446 9:130581899-130581900 9:127819620-127819621
28 ENG NM_000118.3(ENG):c.1111dup (p.Val371fs) Duplication Pathogenic 458325 rs1554810041 9:130586605-130586606 9:127824326-127824327
29 ENG NM_000118.3(ENG):c.229del (p.Gln77fs) Deletion Pathogenic 458344 rs1554810928 9:130592097-130592097 9:127829818-127829818
30 ENG NC_000009.12:g.(?_127829681)_(127829833_?)del Deletion Pathogenic 458321 9:130591960-130592112 9:127829681-127829833
31 ENG NM_000118.3(ENG):c.2T>G (p.Met1Arg) SNV Pathogenic 458346 rs267606783 9:130616633-130616633 9:127854354-127854354
32 ENG NM_000118.3(ENG):c.224del (p.Pro75fs) Deletion Pathogenic 528051 rs1554810932 9:130592102-130592102 9:127829823-127829823
33 ENG NM_000118.3(ENG):c.1541del (p.Gly514fs) Deletion Pathogenic 439657 rs1554809268 9:130580544-130580544 9:127818265-127818265
34 ENG NM_000118.3(ENG):c.1024C>T (p.Gln342Ter) SNV Pathogenic 528057 rs774429348 9:130586693-130586693 9:127824414-127824414
35 ENG NM_001114753.2(ENG):c.1415_1417delinsGT (p.Gln472fs) Indel Pathogenic 528066 rs1554809331 9:130581006-130581008 9:127818727-127818729
36 ENG NM_000118.3(ENG):c.1351C>T (p.Gln451Ter) SNV Pathogenic 528067 rs1554809355 9:130581072-130581072 9:127818793-127818793
37 ENG NM_000118.3(ENG):c.1394dup (p.Asn465fs) Duplication Pathogenic 528070 rs1554809348 9:130581028-130581029 9:127818749-127818750
38 ENG NM_000118.3(ENG):c.683C>A (p.Ser228Ter) SNV Pathogenic 528071 rs1452543778 9:130587980-130587980 9:127825701-127825701
39 LOC102723566 NC_000009.12:g.(?_127815662)_(127820057_?)del Deletion Pathogenic 528087 9:130577941-130582336 9:127815662-127820057
40 ENG NM_001114753.2(ENG):c.1122_1123AG[1] (p.Glu375fs) Microsatellite Pathogenic 458326 rs1554810037 9:130586592-130586593 9:127824313-127824314
41 ENG NM_000118.3(ENG):c.392del (p.Pro131fs) Deletion Pathogenic 458347 rs1554810510 9:130588920-130588920 9:127826641-127826641
42 ENG NM_000118.3(ENG):c.1169G>A (p.Trp390Ter) SNV Pathogenic 567802 rs1564453619 9:130582282-130582282 9:127820003-127820003
43 ENG NM_000118.3(ENG):c.1235_1687-78del Deletion Pathogenic 571701 9:130579559-130582215 9:127817280-127819936
44 ENG NM_001114753.2(ENG):c.1342_1343CT[2] (p.Ser449fs) Microsatellite Pathogenic 572526 rs1564453019 9:130581076-130581077 9:127818797-127818798
45 ENG NM_000118.3(ENG):c.621C>A (p.Cys207Ter) SNV Pathogenic 570772 rs1440769928 9:130588042-130588042 9:127825763-127825763
46 ENG NM_000118.3(ENG):c.991+2T>C SNV Pathogenic 575140 rs1564455554 9:130587077-130587077 9:127824798-127824798
47 ENG NM_000118.3(ENG):c.593_594CG[3] (p.Thr200fs) Microsatellite Pathogenic 503943 rs1554810405 9:130588066-130588067 9:127825787-127825788
48 ENG NM_000118.3(ENG):c.119del (p.Gly40fs) Deletion Pathogenic 578632 rs369596004 9:130605473-130605473 9:127843194-127843194
49 ENG NM_000118.3(ENG):c.1A>C (p.Met1Leu) SNV Pathogenic 578951 rs1060501418 9:130616634-130616634 9:127854355-127854355
50 ENG NM_000118.3(ENG):c.831C>A (p.Tyr277Ter) SNV Pathogenic 579302 rs121918400 9:130587239-130587239 9:127824960-127824960

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:

36
# 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 SMAD4 ENG ACVRL1
2 10.55 SMAD4 ENG
3
Show member pathways
10.23 SMAD4 GDF2 ACVRL1

GO Terms for Hereditary Hemorrhagic Telangiectasia

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.78 SMAD4 ENG ACVRL1
2 positive regulation of angiogenesis GO:0045766 9.77 GDF2 ENG ACVRL1
3 negative regulation of cell growth GO:0030308 9.72 SMAD4 GDF2 ACVRL1
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.67 SMAD4 ENG ACVRL1
5 branching involved in blood vessel morphogenesis GO:0001569 9.6 GDF2 ENG
6 blood vessel morphogenesis GO:0048514 9.58 GDF2 ACVRL1
7 outflow tract septum morphogenesis GO:0003148 9.58 SMAD4 ENG
8 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.57 SMAD4 ENG
9 negative regulation of endothelial cell migration GO:0010596 9.56 GDF2 ACVRL1
10 positive regulation of endothelial cell differentiation GO:0045603 9.54 GDF2 ACVRL1
11 negative regulation of endothelial cell proliferation GO:0001937 9.54 GDF2 ENG ACVRL1
12 activin receptor signaling pathway GO:0032924 9.52 GDF2 ACVRL1
13 endocardial cushion morphogenesis GO:0003203 9.51 ENG ACVRL1
14 cellular response to BMP stimulus GO:0071773 9.5 SMAD4 GDF2 ACVRL1
15 negative regulation of DNA biosynthetic process GO:2000279 9.48 GDF2 ACVRL1
16 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.46 SMAD4 ENG
17 BMP signaling pathway GO:0030509 9.46 SMAD4 GDF2 ENG ACVRL1
18 response to transforming growth factor beta GO:0071559 9.43 SMAD4 ENG
19 dorsal aorta morphogenesis GO:0035912 9.4 ENG ACVRL1
20 endocardial cushion to mesenchymal transition GO:0090500 9.26 ENG ACVRL1
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.26 SMAD4 GDF2 ENG ACVRL1
22 positive regulation of BMP signaling pathway GO:0030513 9.02 SMAD4 KCP GDF2 ENG ACVRL1

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 9.16 ENG ACVRL1
2 activin binding GO:0048185 8.96 ENG ACVRL1
3 transforming growth factor beta-activated receptor activity GO:0005024 8.62 ENG ACVRL1

Sources for Hereditary Hemorrhagic Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....