HHT
MCID: HRD008
MIFTS: 63

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 12 74 24 52 25 58 36 29 6 15 71
Hht 24 52 25 58
Rendu-Osler-Weber Disease 12 52 58
Telangiectasia, Hereditary Hemorrhagic 74 43
Osler-Weber-Rendu Disease 12 24
Osler Hemorrhagic Telangiectasia Syndrome 12
Telangiectasia Hemorrhagic, Hereditary 39
Telangiectasia Hereditary Hemorrhagic 54
Osler Weber Rendu Syndrome 52
Osler-Weber-Rendu Syndrome 25
Osler-Rendu-Weber Disease 52
Rendu-Osler Disease 58
Orw Disease 52

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:

24
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 systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Hereditary Hemorrhagic Telangiectasia

Genetics Home Reference : 25 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 pulmonary arteriovenous malformation, 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 Doxycycline have been mentioned in the context of this disorder. Affiliated tissues include Lateral Plate Mesoderm, liver and brain, 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.

NIH Rare Diseases : 52 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 295)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 35.2 SMAD4 GDF2 ENG ACVRL1
2 pulmonary arteriovenous malformation 33.5 ENG ACVRL1
3 telangiectasis 32.9 SMAD4 GDF2 ENG ACVRL1
4 weber syndrome 31.7 ENG ACVRL1
5 pulmonary hypertension, primary, 1 31.6 ENG ACVRL1
6 arteriovenous malformations of the brain 31.4 GDF2 ENG ACVRL1
7 heritable pulmonary arterial hypertension 31.1 GDF2 ENG ACVRL1
8 angiodysplasia 31.1 ENG ACVRL1
9 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 31.1 ENG ACVRL1
10 hepatopulmonary syndrome 31.0 GDF2 ENG ACVRL1
11 telangiectasia, hereditary hemorrhagic, type 1 12.5
12 telangiectasia, hereditary hemorrhagic, type 4 12.2
13 telangiectasia, hereditary hemorrhagic, type 3 12.0
14 pulmonary arteriovenous fistulas 11.9
15 telangiectasia, hereditary hemorrhagic, type 2 11.8
16 telangiectasia, hereditary hemorrhagic, type 5 11.7
17 arteriovenous malformation 11.2
18 pulmonary hypertension 10.7
19 iron metabolism disease 10.7
20 deficiency anemia 10.6
21 portal hypertension 10.6
22 vascular disease 10.6
23 iron deficiency anemia 10.6
24 aneurysm 10.5
25 congestive heart failure 10.5
26 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.5
27 encephalopathy 10.5
28 active peptic ulcer disease 10.5
29 aortic valve disease 2 10.5
30 carbonic anhydrase va deficiency, hyperammonemia due to 10.5
31 microcytic anemia 10.5
32 constrictive pericarditis 10.5
33 pericarditis 10.5
34 specific language disorder 10.5
35 cardiovascular organ benign neoplasm 10.5 SMAD4 GDF2 ENG ACVRL1
36 cholangitis 10.4
37 juvenile polyposis syndrome 10.4
38 cyanosis, transient neonatal 10.4
39 liver disease 10.4
40 liver cirrhosis 10.4
41 hepatic encephalopathy 10.4
42 transient cerebral ischemia 10.4
43 pulmonary venoocclusive disease 10.4 GDF2 ACVRL1
44 migraine with or without aura 1 10.4
45 thrombophilia due to thrombin defect 10.4
46 pulmonary embolism 10.4
47 hemangioma 10.3
48 keratitis, hereditary 10.3
49 pneumothorax, primary spontaneous 10.3
50 sarcoidosis 1 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 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
12 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
13 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
14 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
15 cholelithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001081
16 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
17 conjunctival telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000524
18 transient ischemic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0002326
19 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002105
20 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
21 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
22 hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001399
23 esophageal varix 58 31 occasional (7.5%) Occasional (29-5%) HP:0002040
24 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
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 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3
2
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
3 Angiogenesis Inhibitors Phase 4
4 Antineoplastic Agents, Immunological Phase 4
5 Anti-Bacterial Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Antiparasitic Agents Phase 4
8 Antiprotozoal Agents Phase 4
9 Antimalarials Phase 4
10
Petrolatum Approved, Investigational Phase 3 8009-03-8
11
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
12
Tranexamic Acid Approved Phase 3 1197-18-8 5526
13
Propranolol Approved, Investigational Phase 3 525-66-6 4946
14 Hemostatics Phase 3
15 Coagulants Phase 3
16 Antifibrinolytic Agents Phase 3
17 Soy Bean Phase 3
18 Adrenergic beta-Antagonists Phase 3
19 Antihypertensive Agents Phase 3
20 Adrenergic Antagonists Phase 3
21 Adrenergic Agents Phase 3
22 Anti-Arrhythmia Agents Phase 3
23 Neurotransmitter Agents Phase 3
24 Vasodilator Agents Phase 3
25
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
26
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
27
Tamoxifen Approved Phase 2 10540-29-1 2733526
28
Sodium Tetradecyl Sulfate Approved, Investigational Phase 1, Phase 2 1191-50-0, 139-88-8 5248 14492
29
Timolol Approved Phase 2 26839-75-8 5478 33624
30
Pomalidomide Approved Phase 2 19171-19-8
31
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
32
Acetaminophen Approved Phase 2 103-90-2 1983
33
Ibuprofen Approved Phase 2 15687-27-1 3672
34
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
35
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
36
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
37 Antineoplastic Agents, Hormonal Phase 2
38 Gastrointestinal Agents Phase 2
39 Hormones Phase 2
40 Immunosuppressive Agents Phase 2
41 Hormone Antagonists Phase 2
42 Estrogen Antagonists Phase 2
43 Estrogen Receptor Antagonists Phase 2
44 Estrogen Receptor Modulators Phase 2
45 Estrogens Phase 2
46 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
47 Pharmaceutical Solutions Phase 2
48 TEMPO Phase 2
49 Ophthalmic Solutions Phase 2
50 Sclerosing Solutions Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
2 NOrth American Study for the Treatment of Recurrent epIstaxis With DoxycycLine: The NOSTRIL Trial Active, not recruiting NCT04167085 Phase 4 Doxycycline
3 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
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 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
6 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome. Beneficial or Iatrogenic Effects. Completed NCT00355108 Phase 3 tranexamic acid
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 Study of the Efficacy of Propranolol for the Management of Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients Not yet recruiting NCT04113187 Phase 3 Propranolol treatment;Placebo
9 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
10 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
11 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
12 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
13 A Randomized Double Blind Placebo Controlled Trial of Intranasal Submucosal Bevacizumab in Hereditary Hemorrhagic Telangiectasia Completed NCT01314274 Phase 2 Bevacizumab;NaCl
14 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
15 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
16 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
17 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
18 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01402531 Phase 2 Submucosal Bevacizumab
19 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
20 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01397695 Phase 2 Bevacizumab
21 North American Study of Epistaxis in HHT (NOSE) Completed NCT01408030 Phase 2 Sterile saline;Bevacizumab;Estriol;Tranexamic Acid
22 A Phase II Study of Subcutaneous Bevacizumab in Relapsed / Progressive Glioblastoma Completed NCT02157103 Phase 2 Bevacizumab 25 mg in 1 ml subcutaneously daily
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 Pomalidomide for the Treatment of Bleeding in Hereditary Hemorrhagic Telangiectasia Recruiting NCT03910244 Phase 2 Pomalidomide Oral Product;Placebo oral capsule
25 Doxycycline Crossover Trial for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
26 Vitamin D Supplementation and Reduction of Severity and Frequency of Epistaxis in Hereditary Haemorrhagic Telangiectasia Recruiting NCT03981562 Phase 2 Vit D;Placebo Oral Tablet
27 A Multicenter Double Blinded Randomized Controlled Trial of the Efficacy of the Sphenopalatine Ganglion Block for the Treatment of the Postdural Puncture Headache After Labor Epidural Enrolling by invitation NCT03560349 Phase 2 Lidocaine HCl Gel 2%;placebo gel
28 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
29 A Phase 2 Study of Bevacizumab for Chronic Bleeding and Iron Deficiency Anemia in Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT04404881 Phase 2 Bevacizumab
30 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
31 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
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 The Use of Ferumoxytol (Feraheme) for Whole Body Magnetic Resonance Angiography in Hereditary Hemorrhagic Telangiectasia Completed NCT02977637 Phase 1
34 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 Recruiting NCT02287558 Phase 1 Pomalidomide
35 Ranibizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
36 Studies of Plasma Proteins Derived From Pulmonary Arteriovenous Malformation Patients Unknown status NCT00230672
37 A Questionnaire Based Study on Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT02690246
38 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
39 Hammersmith Hospital Patients With Pulmonary Arteriovenous Malformations (PAVMs) and Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
40 A Questionnaire Study on Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015
41 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
42 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
43 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
44 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT02638012 Floseal
45 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
46 Illness Perceptions and the Health Belief Model: Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
47 Recurrence of Hereditary Hemorrhagic Telangiectasia (HHT) After Liver Transplantation: Clinical Implications and Physiopathological Insights. Completed NCT03942315
48 A Questionnaire Study on Hereditary Hemorrhagic Telangiectasia (HHT) and Other Medical Conditions, Compared to the General Population Completed NCT02464644
49 Correlation of Graded Transthoracic Contrast Echocardiography With Chest CT Findings After Pulmonary Arteriovenous Malformation Embolization in Patients With Hereditary Hemorrhagic Telangiectasia, 2016 Completed NCT02936349
50 Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept Completed NCT01752049 Topical timolol maleate;placebo saline drops

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, Brain, Skin, Lung, Endothelial, Heart, Testes
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 2149)
# 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 6 24
9366572 1997
2
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 54 61 24 6
9245985 1997
3
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. 61 24 6
23972370 2013
4
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). 61 24 6
10751092 2000
5
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. 61 24 6
9554745 1998
6
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. 6 24
19553198 2011
7
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. 54 61 6
18285823 2008
8
Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. 24 6
15521985 2004
9
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 61 54 6
15024723 2004
10
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. 6 61 54
11484689 2001
11
Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. 54 61 6
11170071 2001
12
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. 54 6 61
10982033 2000
13
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. 54 6 61
10767348 2000
14
Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. 6 61 54
9245986 1997
15
Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. 61 24 54
20056902 2010
16
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 24 54 61
20101697 2010
17
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. 24 61 54
18792970 2008
18
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. 61 24 54
16752392 2006
19
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. 54 61 24
16705692 2006
20
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 61 54 24
16470787 2006
21
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 54 61 24
15517393 2005
22
Hereditary Hemorrhagic Telangiectasia 61 6
20301525 2000
23
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia. 6
30244195 2018
24
Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia: A Randomized Clinical Trial. 61 24
27599328 2016
25
Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. 24 61
27599329 2016
26
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. 61 24
25674101 2015
27
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. 61 24
24525918 2014
28
Very low dose bevacizumab for the treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia. 61 24
25199101 2014
29
Genetics and genomics of pulmonary arterial hypertension. 61 24
24355637 2013
30
Efficacy of a topical sesame/rose geranium oil compound in patients with hereditary hemorrhagic telangiectasia associated epistaxis. 61 24
23401038 2013
31
Systemic therapy with bevacizumab in patients with hereditary hemorrhagic telangiectasia (HHT). 61 24
23485837 2013
32
Antiplatelet and anticoagulant agents in hereditary hemorrhagic telangiectasia. 61 24
23445111 2013
33
The Young's procedure for severe epistaxis from hereditary hemorrhagic telangiectasia. 61 24
23168156 2012
34
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 61 24
22810475 2012
35
Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia. 61 24
22281938 2012
36
Topical timolol for the treatment of epistaxis in hereditary hemorrhagic telangiectasia. 61 24
22079094 2012
37
Local sclerotherapy with polydocanol (Aethoxysklerol®) for the treatment of Epistaxis in Rendu-Osler-Weber or Hereditary Hemorrhagic Telangiectasia (HHT): 15 years of experience. 61 24
22469609 2012
38
Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. 61 24
22396517 2012
39
Intranasal tranexamic acid for the treatment of hereditary hemorrhagic telangiectasia: a case report and review of treatment options. 24 61
22474728 2012
40
Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment. 61 24
22034007 2012
41
Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. 61 24
21290179 2011
42
Office-based sclerotherapy for recurrent epistaxis due to hereditary hemorrhagic telangiectasia: a pilot study. 24 61
22287439 2011
43
Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. 61 24
21546842 2011
44
Anti-VEGF with 3-week intervals is effective on anemia in a patient with severe hereditary hemorrhagic telangiectasia. 24 61
20824275 2011
45
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 24 61
21158752 2011
46
Long-term therapy with bevacizumab in hereditary hemorrhagic telangiectasia. 61 24
21323562 2011
47
Hepatic arteriovenous malformations from hereditary hemorrhagic telangiectasia: treatment with liver transplantation. 61 24
20844961 2010
48
PAVM embolization: an update. 24 61
20858807 2010
49
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 24 61
20414677 2010
50
High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia. 24 61
20170910 2010

Variations for Hereditary Hemorrhagic Telangiectasia

ClinVar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

6 (show top 50) (show all 222) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ENG NM_000118.3(ENG):c.1646G>A (p.Cys549Tyr)SNV Pathogenic 407135 rs1060501421 9:130580439-130580439 9:127818160-127818160
2 ENG NM_000118.3(ENG):c.1327del (p.Leu443fs)deletion Pathogenic 407118 rs1060501413 9:130581096-130581096 9:127818817-127818817
3 ENG NM_000118.3(ENG):c.991G>A (p.Gly331Ser)SNV Pathogenic 407115 rs1060501410 9:130587079-130587079 9:127824800-127824800
4 ENG NC_000009.12:g.(?_127819622)_(127820037_?)deldeletion Pathogenic 417398 9:130581901-130582316 9:127819622-127820037
5 ENG NM_000118.3(ENG):c.715dup (p.Glu239fs)duplication Pathogenic 407137 rs1554810257 9:130587610-130587611 9:127825331-127825332
6 ENG NM_000118.3(ENG):c.524-2A>GSNV Pathogenic 407119 rs1060501414 9:130588141-130588141 9:127825862-127825862
7 ENG NM_000118.3(ENG):c.-127C>TSNV Pathogenic 407113 rs1060501408 9:130616761-130616761 9:127854482-127854482
8 ENG NM_000118.3(ENG):c.219G>A (p.Thr73=)SNV Pathogenic 407128 rs755348996 9:130605373-130605373 9:127843094-127843094
9 ENG NM_001114753.2(ENG):c.1117_1120AAGA[1] (p.Lys374fs)short repeat Pathogenic 419225 rs1064793734 9:130586593-130586596 9:127824314-127824317
10 ENG NM_000118.3(ENG):c.721_725del (p.Ser241fs)deletion Pathogenic 419981 rs1064794219 9:130587601-130587605 9:127825322-127825326
11 ENG NM_000118.3(ENG):c.715G>T (p.Glu239Ter)SNV Pathogenic 419982 rs1064794220 9:130587611-130587611 9:127825332-127825332
12 ENG NM_000118.3(ENG):c.662T>C (p.Leu221Pro)SNV Pathogenic 435060 rs1554810378 9:130588001-130588001 9:127825722-127825722
13 ENG NM_000118.3(ENG):c.1686+1G>ASNV Pathogenic 439649 rs1554809228 9:130580398-130580398 9:127818119-127818119
14 ENG NM_000118.3(ENG):c.765del (p.Tyr258fs)deletion Pathogenic 439654 rs1554810232 9:130587561-130587561 9:127825282-127825282
15 ENG NM_000118.3(ENG):c.511C>T (p.Arg171Ter)SNV Pathogenic 439644 rs1554810490 9:130588801-130588801 9:127826522-127826522
16 ENG NM_000118.3(ENG):c.1235G>A (p.Cys412Tyr)SNV Pathogenic 458332 rs1554809513 9:130582216-130582216 9:127819937-127819937
17 ENG NM_000118.3(ENG):c.1134G>A (p.Ala378=)SNV Pathogenic 458328 rs1329127701 9:130586583-130586583 9:127824304-127824304
18 ENG NM_000118.3(ENG):c.219+1G>ASNV Pathogenic 458343 rs1554812253 9:130605372-130605372 9:127843093-127843093
19 ENG NM_000118.3(ENG):c.1687delGdeletion Pathogenic 580415 rs1564452075 9:130579482-130579482 9:127817203-127817203
20 ENG NC_000009.12:g.(?_127819602)_(127820057_?)deldeletion Pathogenic 664458 9:130581881-130582336 9:127819602-127820057
21 ENG NM_000118.3(ENG):c.817-1G>CSNV Pathogenic 573259 rs1564455715 9:130587254-130587254 9:127824975-127824975
22 ENG NM_000118.3(ENG):c.992-2A>GSNV Pathogenic 663310 9:130586727-130586727 9:127824448-127824448
23 ENG NM_000118.3(ENG):c.689+1G>ASNV Pathogenic 661834 9:130587973-130587973 9:127825694-127825694
24 ENG NM_000118.3(ENG):c.991+2T>GSNV Pathogenic 662789 9:130587077-130587077 9:127824798-127824798
25 ENG NM_000118.3(ENG):c.1309C>T (p.Arg437Trp)SNV Pathogenic 618082 rs1434169817 9:130581903-130581903 9:127819624-127819624
26 ENG NM_000118.3(ENG):c.187G>T (p.Glu63Ter)SNV Pathogenic 811250 9:130605405-130605405 9:127843126-127843126
27 ENG NC_000009.12:g.(?_127815672)_(127854482_?)deldeletion Pathogenic 831730 9:130577951-130616761
28 ENG NC_000009.12:g.(?_127815907)_(127854365_?)deldeletion Pathogenic 830930 9:130578186-130616644
29 ENG NC_000009.12:g.(?_127815917)_(127854482_?)deldeletion Pathogenic 833137 9:130578196-130616761
30 ENG NC_000009.12:g.(?_127819612)_(127829837_?)deldeletion Pathogenic 833148 9:130581891-130592116
31 ENG NC_000009.12:g.(?_127824294)_(127824456_?)deldeletion Pathogenic 831280 9:130586573-130586735
32 ENG NC_000009.12:g.(?_127825214)_(127826683_?)deldeletion Pathogenic 833416 9:130587493-130588962
33 ENG NC_000009.12:g.(?_127843084)_(127843255_?)dupduplication Pathogenic 832916 9:130605363-130605534
34 ENG NC_000009.12:g.(?_127854279)_(127854365_?)deldeletion Pathogenic 833480 9:130616558-130616644
35 ENG NM_000118.3:c.1689_1699deldeletion Pathogenic 839929
36 ENG NM_001114753.3(ENG):c.1273-2A>GSNV Pathogenic 162498 rs373842615 9:130581941-130581941 9:127819662-127819662
37 ENG NM_000118.3(ENG):c.1715T>A (p.Leu572Ter)SNV Pathogenic 213213 rs863223539 9:130579454-130579454 9:127817175-127817175
38 ENG NM_000118.3(ENG):c.1428+1G>ASNV Pathogenic 213216 rs863223542 9:130580994-130580994 9:127818715-127818715
39 ENG NM_000118.3(ENG):c.1312A>T (p.Lys438Ter)SNV Pathogenic 213210 rs863223536 9:130581111-130581111 9:127818832-127818832
40 ENG NM_000118.3(ENG):c.562C>T (p.Gln188Ter)SNV Pathogenic 213211 rs863223537 9:130588101-130588101 9:127825822-127825822
41 ENG NM_000118.3(ENG):c.247C>T (p.Gln83Ter)SNV Pathogenic 213205 rs863223532 9:130592079-130592079 9:127829800-127829800
42 ENG NM_000118.3(ENG):c.640_643delshort repeat Pathogenic 220826 rs864622666 9:130588020-130588023 9:127825741-127825744
43 ENG NM_000118.3(ENG):c.360+1G>ASNV Pathogenic 265370 rs886039505 9:130591965-130591965 9:127829686-127829686
44 ENG NM_000118.3(ENG):c.277C>T (p.Arg93Ter)SNV Pathogenic 265371 rs886039506 9:130592049-130592049 9:127829770-127829770
45 ENG NM_001114753.3(ENG):c.461dup (p.Ile156fs)duplication Pathogenic 843258 9:130588850-130588851 9:127826571-127826572
46 ENG NM_001114753.3(ENG):c.600_603dup (p.Ala202fs)duplication Pathogenic 838206 9:130588059-130588060 9:127825780-127825781
47 ENG NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)SNV Pathogenic 852561 9:130588037-130588037 9:127825758-127825758
48 ENG NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)SNV Pathogenic 854634 9:130588818-130588818 9:127826539-127826539
49 ENG NM_001114753.3(ENG):c.787_789del (p.Ile263del)deletion Pathogenic 862246 9:130587537-130587539 9:127825258-127825260
50 ENG NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)SNV Pathogenic 848437 9:130582215-130582215 9:127819936-127819936

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 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of angiogenesis GO:0045766 9.74 GDF2 ENG ACVRL1
2 negative regulation of cell growth GO:0030308 9.71 SMAD4 GDF2 ACVRL1
3 transforming growth factor beta receptor signaling pathway GO:0007179 9.65 SMAD4 ENG ACVRL1
4 branching involved in blood vessel morphogenesis GO:0001569 9.59 GDF2 ENG
5 blood vessel morphogenesis GO:0048514 9.58 GDF2 ACVRL1
6 outflow tract septum morphogenesis GO:0003148 9.58 SMAD4 ENG
7 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.56 SMAD4 ENG
8 negative regulation of endothelial cell migration GO:0010596 9.55 GDF2 ACVRL1
9 activin receptor signaling pathway GO:0032924 9.52 GDF2 ACVRL1
10 positive regulation of endothelial cell differentiation GO:0045603 9.51 GDF2 ACVRL1
11 cellular response to BMP stimulus GO:0071773 9.5 SMAD4 GDF2 ACVRL1
12 endocardial cushion morphogenesis GO:0003203 9.49 ENG ACVRL1
13 negative regulation of DNA biosynthetic process GO:2000279 9.46 GDF2 ACVRL1
14 BMP signaling pathway GO:0030509 9.46 SMAD4 GDF2 ENG ACVRL1
15 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.43 SMAD4 ENG
16 response to transforming growth factor beta GO:0071559 9.4 SMAD4 ENG
17 dorsal aorta morphogenesis GO:0035912 9.37 ENG ACVRL1
18 endocardial cushion to mesenchymal transition GO:0090500 9.26 ENG ACVRL1
19 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.26 SMAD4 GDF2 ENG ACVRL1
20 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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