MCID: HRD008
MIFTS: 60

Hereditary Hemorrhagic Telangiectasia

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 39 12 77 25 54 26 60 38 6 15 74
Hht 25 54 26 60
Osler Hemorrhagic Telangiectasia Syndrome 12 30 6
Rendu-Osler-Weber Disease 12 54 60
Telangiectasia, Hereditary Hemorrhagic 77 45
Osler-Weber-Rendu Disease 12 25
Telangiectasia Hemorrhagic, Hereditary 41
Telangiectasia Hereditary Hemorrhagic 56
Osler Weber Rendu Syndrome 54
Osler-Weber-Rendu Syndrome 26
Osler-Rendu-Weber Disease 54
Rendu-Osler Disease 60
Orw Disease 54

Characteristics:

Orphanet epidemiological data:

60
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:



Summaries for Hereditary Hemorrhagic Telangiectasia

NIH Rare Diseases : 54 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 telangiectasia of the skin and epistaxis

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 : 26 Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

Wikipedia : 77 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 145)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 33.0 ACVRL1 ENG
2 telangiectasis 32.4 ACVRL1 ENG GDF2 SMAD4
3 pulmonary hypertension, primary, 1 30.9 ACVRL1 ENG
4 weber syndrome 30.8 ACVRL1 ENG
5 angiodysplasia 30.7 ACVRL1 ENG
6 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.9
7 telangiectasia, hereditary hemorrhagic, type 1 12.3
8 telangiectasia, hereditary hemorrhagic, type 4 11.9
9 telangiectasia, hereditary hemorrhagic, type 2 11.9
10 pulmonary arterio-veinous fistula 11.8
11 telangiectasia, hereditary hemorrhagic, type 5 11.6
12 telangiectasia, hereditary hemorrhagic, type 3 11.6
13 arteriovenous malformation 11.0
14 pulmonary arteriovenous fistulas 10.6
15 arteriovenous fistula 10.5
16 pulmonary hypertension 10.4
17 esophageal varix 10.3
18 atrial heart septal defect 10.3
19 leiomyosarcoma 10.3
20 filamentary keratitis 10.3
21 epithelioid leiomyosarcoma 10.3
22 splenomegaly 10.3
23 liver disease 10.3
24 rere-related disorders 10.3
25 portal hypertension 10.3
26 heritable pulmonary arterial hypertension 10.3 ACVRL1 ENG GDF2
27 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.3 ACVRL1 ENG SMAD4
28 juvenile polyposis syndrome 10.3
29 atrial fibrillation 10.3
30 renal cell carcinoma, nonpapillary 10.2
31 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
32 rheumatic heart disease 10.2
33 heart disease 10.2
34 branch retinal artery occlusion 10.2
35 retinal artery occlusion 10.2
36 arteriovenous malformations of the brain 10.2
37 deficiency anemia 10.2
38 endocarditis 10.2
39 iron metabolism disease 10.2
40 encephalopathy 10.2
41 pseudoxanthoma elasticum 10.2
42 encephalitis 10.2
43 myocardial infarction 10.1
44 hepatitis 10.1
45 leukemia 10.1
46 ehlers-danlos syndrome 10.1
47 calcinosis 10.1
48 colorectal cancer 10.1
49 hepatocellular carcinoma 10.1
50 marfan syndrome 10.1

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:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 telangiectasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0100585
2 epistaxis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000421
3 portal hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0001409
4 cavernous hemangioma 60 33 frequent (33%) Frequent (79-30%) HP:0001048
5 microcytic anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001935
6 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
7 spontaneous hematomas 60 33 frequent (33%) Frequent (79-30%) HP:0007420
8 visceral angiomatosis 60 33 frequent (33%) Frequent (79-30%) HP:0100761
9 cholecystitis 60 33 frequent (33%) Frequent (79-30%) HP:0001082
10 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
11 pulmonary arterial hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002092
12 pulmonary embolism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002204
13 transient ischemic attack 60 33 occasional (7.5%) Occasional (29-5%) HP:0002326
14 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
15 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
16 cholelithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001081
17 venous thrombosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004936
18 conjunctival telangiectasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000524
19 hematuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000790
20 hemoptysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002105
21 hepatic failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001399
22 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
23 amblyopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000646
24 nephrolithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000787
25 esophageal varix 60 33 occasional (7.5%) Occasional (29-5%) HP:0002040
26 retinal telangiectasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007763
27 subarachnoid hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002138
28 intestinal polyposis 60 33 occasional (7.5%) Occasional (29-5%) HP:0200008
29 cerebral hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0001342
30 peripheral arteriovenous fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0100784
31 arteriovenous malformation 60 Frequent (79-30%)
32 mucosal telangiectasiae 60 Very frequent (99-80%)
33 abnormality of the cerebral vasculature 60 Occasional (29-5%)
34 abnormality of cardiovascular system physiology 60 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 72)
# 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 Antineoplastic Agents, Immunological Phase 4,Phase 2,Phase 3,Phase 1
5
Petrolatum Approved, Investigational Phase 3 8009-03-8
6
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
7
Tranexamic Acid Approved Phase 3,Phase 2 1197-18-8 5526
8 Anti-Infective Agents Phase 3,Phase 2,Phase 1
9 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
10 Antifibrinolytic Agents Phase 3,Phase 2
11 Coagulants Phase 3,Phase 2
12 Hemostatics Phase 3,Phase 2,Not Applicable
13 Soy Bean Phase 3
14
Iron Approved, Experimental Phase 2,Not Applicable 7439-89-6, 15438-31-0 27284 23925
15
Sodium Tetradecyl Sulfate Approved, Investigational Phase 1, Phase 2 139-88-8, 1191-50-0 5248 14492
16
Tamoxifen Approved Phase 2 10540-29-1 2733526
17
Timolol Approved Phase 2,Not Applicable 26839-75-8 5478 33624
18
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
19
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
20
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
21
Pomalidomide Approved Phase 2,Phase 1 19171-19-8
22
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
23 Pharmaceutical Solutions Phase 2,Phase 1
24 Antihypertensive Agents Phase 2,Not Applicable
25 Immunosuppressive Agents Phase 2,Phase 1
26 Immunologic Factors Phase 2,Phase 1
27 Anesthetics Phase 1, Phase 2
28 Estrogen Antagonists Phase 2
29 Hormones Phase 2
30 Estrogen Receptor Antagonists Phase 2
31 Bone Density Conservation Agents Phase 2
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
33 Estrogen Receptor Modulators Phase 2
34 Estrogens Phase 2
35 Selective Estrogen Receptor Modulators Phase 2
36 Hormone Antagonists Phase 2
37 Antineoplastic Agents, Hormonal Phase 2
38 Adrenergic Agents Phase 2,Not Applicable
39 Adrenergic Antagonists Phase 2,Not Applicable
40 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
41 Adrenergic beta-Antagonists Phase 2,Not Applicable
42 Anti-Arrhythmia Agents Phase 2,Not Applicable
43 Ophthalmic Solutions Phase 2
44 TEMPO Phase 2
45 Neurotransmitter Agents Phase 2,Not Applicable
46 Gastrointestinal Agents Phase 2
47 Endothelial Growth Factors Phase 2
48 Mitogens Phase 2
49 Liver Extracts Phase 2
50 Antiparasitic Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 63)
# 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 Pazopanib Effects on Bleeding in Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT03850964 Phase 2, Phase 3 Pazopanib;Placebo oral capsule
7 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
8 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2 Submucosal Bevacizumab
9 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2 Bevacizumab
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 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
12 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
13 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
14 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
15 Intranasal Submucosal Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01314274 Phase 2 Bevacizumab;NaCl
16 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
17 North American Study of Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01408030 Phase 2 Sterile saline;Bevacizumab;Estriol;Tranexamic Acid
18 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
19 Doxycycline for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
20 Octreotide in Patients With GI Bleeding Due to Rendu-Osler-Weber Active, not recruiting NCT02874326 Phase 2 Octreotide LAR
21 Pazopanib for the Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT03850730 Phase 1, Phase 2 Pazopanib
22 Pomalidomide for the Treatment of Bleeding in HHT Not yet recruiting NCT03910244 Phase 2 Pomalidomide Oral Product
23 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
24 Evaluation of Pazopanib on Bleeding in Subjects With Hereditary Haemorrhagic Telangiectasia Terminated NCT02204371 Phase 2 Pazopanib;Placebo
25 MRA With Feraheme in HHT Completed NCT02977637 Phase 1
26 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
27 Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I Study Recruiting NCT02287558 Phase 1 Pomalidomide
28 Ranibizumab for the Management of Recurrent Nosebleeds in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
29 Iron Deficiency and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01908543 Not Applicable Ferrous sulphate 200mg oral tablet
30 Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015 Not Applicable
31 Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
32 Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00733629
33 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
34 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs Unknown status NCT02436213 Not Applicable
35 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs With and Without Airflow Obstruction Unknown status NCT02458703 Not Applicable
36 Studies of White Blood Cells Derived From HHT Patients Unknown status NCT00230633
37 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan
38 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
39 Recurrence of Hereditary Hemorrhagic Telangiectasia (HHT) After Liver Transplantation Completed NCT03942315
40 Pulmonary Arteriovenous Malformations (PAVMs) in Hereditary Haemorrhagic Telangiectasia (HHT) Completed NCT03940014
41 Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
42 Hereditary Haemorrhagic Telangiectasia Flight Safety Study Completed NCT01590121
43 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
44 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
45 Frequency of Common Medical Conditions in People With and Without HHT Completed NCT02464644 Not Applicable
46 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659
47 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT03572556
48 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia Recruiting NCT01158807
49 Graded TTCE for Post-Embolization PAVM Monitoring Recruiting NCT02936349
50 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With (HHT) Recruiting NCT02638012 Not Applicable Floseal

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 30 ENG

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

42
Liver, Brain, Skin, Lung, Heart, Endothelial, 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 1228)
# Title Authors Year
1
Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm. ( 30210120 )
2019
2
A Pial Arteriovenous Fistula in Infancy as the Presenting Manifestation of Hereditary Hemorrhagic Telangiectasia. ( 30391600 )
2019
3
Angiopoietin-2 Inhibition Rescues Arteriovenous Malformation in a Smad4 Hereditary Hemorrhagic Telangiectasia Mouse Model. ( 30744395 )
2019
4
Cutaneous collagenous vasculopathy: Differential diagnosis of primary telangiectasia as generalized essential telangiectasia, hereditary hemorrhagic telangiectasia, and hereditary benign telangiectasia. ( 30355073 )
2019
5
Lactulose to the Rescue: A Case of Toxic Hepatic Encephalopathy Caused by Portosystemic Shunting and Epistaxis in a Patient with Hereditary Hemorrhagic Telangiectasia. ( 31032126 )
2019
6
Pazopanib may reduce bleeding in hereditary hemorrhagic telangiectasia. ( 30191360 )
2019
7
Medical Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Meta-analysis. ( 30200816 )
2019
8
Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. ( 30260738 )
2019
9
Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis. ( 30329172 )
2019
10
Low serum haptoglobin and blood films suggest intravascular hemolysis contributes to severe anemia in hereditary hemorrhagic telangiectasia. ( 30337360 )
2019
11
Links Between Strokes and Hereditary Hemorrhagic Telangiectasia: A Population-Based Study. ( 30520389 )
2019
12
The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia. ( 30685840 )
2019
13
Bevacizumab as Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Literature Review. ( 30693788 )
2019
14
Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia. ( 30701124 )
2019
15
Hospitalizations with hereditary hemorrhagic telangiectasia and pulmonary hypertension in the United States from 2000 to 2014. ( 30704695 )
2019
16
Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination. ( 30705116 )
2019
17
Diagnostic yield of capsule endoscopy for small bowel arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis. ( 30705963 )
2019
18
Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. ( 30717761 )
2019
19
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia. ( 30728427 )
2019
20
Nasal self-packing for epistaxis in Hereditary Hemorrhagic Telangiectasia increases quality of life. ( 30739126 )
2019
21
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? ( 30760892 )
2019
22
Characterization of a mutation in the zona pellucida module of Endoglin that causes hereditary hemorrhagic telangiectasia. ( 30763665 )
2019
23
Response to "Systemic Bevacizumab for Hereditary Hemorrhagic Telangiectasia: Considerations from Observational Studies". ( 30798740 )
2019
24
Systemic Bevacizumab for Hereditary Hemorrhagic Telangiectasia: Considerations from Observational Studies. ( 30798765 )
2019
25
Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study. ( 30819528 )
2019
26
Growth of Pulmonary Arteriovenous Malformations in Pediatric Patients with Hereditary Hemorrhagic Telangiectasia. ( 30853205 )
2019
27
Deregulation of Drosha in the pathogenesis of hereditary hemorrhagic telangiectasia. ( 30855334 )
2019
28
A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation. ( 30860148 )
2019
29
Delayed diagnosis of hereditary hemorrhagic telangiectasia type 1 in a 10-year-old boy with presentation of failure to thrive and cerebral abscess. ( 30887684 )
2019
30
Abdominal manifestations of hereditary hemorrhagic telangiectasia: a series of 333 patients over 15 years. ( 30888464 )
2019
31
Assessing the Hereditary Hemorrhagic Telangiectasia Algorithms in a Community-Based Patient Population. ( 30939282 )
2019
32
A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations. ( 30946035 )
2019
33
Identification of two distinct hereditary hemorrhagic telangiectasia patient subsets with different hepatic perfusion properties by combination of contrast-enhanced ultrasound (CEUS) with perfusion imaging quantification. ( 30973932 )
2019
34
Hereditary Hemorrhagic Telangiectasia. ( 31003749 )
2019
35
Thalidomide for the Management of Bleeding Episodes in Patients with Hereditary Hemorrhagic Telangiectasia: Effects on Epistaxis Severity Score and Quality of Life ( 29880465 )
2019
36
Novel mutation c.263A>G in the ACVRL1 gene in a Japanese patient with hereditary hemorrhagic telangiectasia 2. ( 29923633 )
2019
37
De Novo Vascular Lesions After Liver Transplant in a Case With Hereditary Hemorrhagic Telangiectasia and Fibropolycystic Liver Disease: Long-Term Follow-Up With Magnetic Resonance Imaging and Magnetic Resonance Angiography. ( 28004998 )
2019
38
A theory for polymicrogyria and brain arteriovenous malformations in HHT. ( 30584075 )
2019
39
Does severe bleeding in HHT patients respond to intravenous bevacizumab? Review of the literature and case series. ( 30907391 )
2019
40
Sclerotherapy and Topical Nasal Propranolol: An Effective and Safe Therapy for HHT-Epistaxis. ( 30908653 )
2019
41
The 12-HHT/BLT2/NO Axis Is Associated to the Wound Healing and Skin Condition in Different Glycaemic States. ( 31022982 )
2019
42
Revealing the Electrophysiological Correlates of Working Memory-Load Effects in Symmetry Span Task With HHT Method. ( 31105617 )
2019
43
Echocardiography Grading for Pulmonary Arteriovenous Malformation Screening in Children with Hereditary Hemorrhagic Telangiectasia. ( 29274888 )
2018
44
Pregnancy and mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ( 28482718 )
2018
45
Prenatal care and labor in patients with mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ( 29938556 )
2018
46
Hyperammonemic encephalopathy associated with hereditary hemorrhagic telangiectasia. ( 30447907 )
2018
47
Probiotics and infective endocarditis in patients with hereditary hemorrhagic telangiectasia: a clinical case and a review of the literature. ( 29390976 )
2018
48
Site-Seeing: Hereditary Hemorrhagic Telangiectasia with Native-Valve Endocarditis. ( 29269227 )
2018
49
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
50
Clinical features and treatment of hereditary hemorrhagic telangiectasia. ( 30075565 )
2018

Variations for Hereditary Hemorrhagic Telangiectasia

ClinVar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

6 (show top 50) (show all 926)
# 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 NM_000118.3(ENG): c.360+4A> G single nucleotide variant Pathogenic GRCh38 Chromosome 9, 127829683: 127829683
6 ENG NM_000118.3(ENG): c.360+4A> G single nucleotide variant Pathogenic GRCh37 Chromosome 9, 130591962: 130591962
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 NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh37 Chromosome 9, 130591966: 130591966
12 ENG NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh38 Chromosome 9, 127829687: 127829687
13 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh37 Chromosome 18, 48575160: 48575160
14 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh38 Chromosome 18, 51048790: 51048790
15 SMAD4 NM_005359.5(SMAD4): c.1573A> G (p.Ile525Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149755320 GRCh37 Chromosome 18, 48604751: 48604751
16 SMAD4 NM_005359.5(SMAD4): c.1573A> G (p.Ile525Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149755320 GRCh38 Chromosome 18, 51078381: 51078381
17 SMAD4 NM_005359.5(SMAD4): c.424+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200772603 GRCh38 Chromosome 18, 51048865: 51048865
18 SMAD4 NM_005359.5(SMAD4): c.424+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200772603 GRCh37 Chromosome 18, 48575235: 48575235
19 SMAD4 NM_005359.5(SMAD4): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs1801250 GRCh37 Chromosome 18, 48591923: 48591923
20 SMAD4 NM_005359.5(SMAD4): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs1801250 GRCh38 Chromosome 18, 51065553: 51065553
21 ACVRL1 NM_000020.2(ACVRL1): c.313+11C> T single nucleotide variant Benign rs2071218 GRCh37 Chromosome 12, 52307145: 52307145
22 ACVRL1 NM_000020.2(ACVRL1): c.313+11C> T single nucleotide variant Benign rs2071218 GRCh38 Chromosome 12, 51913361: 51913361
23 ENG NM_000118.3(ENG): c.207G> A (p.Leu69=) single nucleotide variant Benign/Likely benign rs11545664 GRCh37 Chromosome 9, 130605385: 130605385
24 ENG NM_000118.3(ENG): c.207G> A (p.Leu69=) single nucleotide variant Benign/Likely benign rs11545664 GRCh38 Chromosome 9, 127843106: 127843106
25 ENG NM_000118.3(ENG): c.1029C> T (p.Thr343=) single nucleotide variant Benign/Likely benign rs3739817 GRCh37 Chromosome 9, 130586688: 130586688
26 ENG NM_000118.3(ENG): c.1029C> T (p.Thr343=) single nucleotide variant Benign/Likely benign rs3739817 GRCh38 Chromosome 9, 127824409: 127824409
27 ENG NM_000118.3(ENG): c.1060C> T (p.Leu354=) single nucleotide variant Benign/Likely benign rs36092484 GRCh37 Chromosome 9, 130586657: 130586657
28 ENG NM_000118.3(ENG): c.1060C> T (p.Leu354=) single nucleotide variant Benign/Likely benign rs36092484 GRCh38 Chromosome 9, 127824378: 127824378
29 SMAD4 NM_005359.5(SMAD4): c.455-6A> G single nucleotide variant Benign/Likely benign rs181178864 GRCh38 Chromosome 18, 51054775: 51054775
30 SMAD4 NM_005359.5(SMAD4): c.455-6A> G single nucleotide variant Benign/Likely benign rs181178864 GRCh37 Chromosome 18, 48581145: 48581145
31 SMAD4 NM_005359.5(SMAD4): c.*11C> T single nucleotide variant Benign/Likely benign rs11663402 GRCh38 Chromosome 18, 51078478: 51078478
32 SMAD4 NM_005359.5(SMAD4): c.*11C> T single nucleotide variant Benign/Likely benign rs11663402 GRCh37 Chromosome 18, 48604848: 48604848
33 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Benign/Likely benign rs148002300 GRCh37 Chromosome 9, 130578230: 130578230
34 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Benign/Likely benign rs148002300 GRCh38 Chromosome 9, 127815951: 127815951
35 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh37 Chromosome 9, 130580575: 130580575
36 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh38 Chromosome 9, 127818296: 127818296
37 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh37 Chromosome 9, 130588023: 130588023
38 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh38 Chromosome 9, 127825744: 127825744
39 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh37 Chromosome 9, 130588920: 130588920
40 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh38 Chromosome 9, 127826641: 127826641
41 ENG NM_000118.3(ENG): c.1273-2A> G single nucleotide variant Pathogenic rs373842615 GRCh37 Chromosome 9, 130581941: 130581941
42 ENG NM_000118.3(ENG): c.1273-2A> G single nucleotide variant Pathogenic rs373842615 GRCh38 Chromosome 9, 127819662: 127819662
43 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh37 Chromosome 9, 130586621: 130586621
44 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh38 Chromosome 9, 127824342: 127824342
45 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh38 Chromosome 9, 127854342: 127854342
46 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh37 Chromosome 9, 130616621: 130616621
47 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh37 Chromosome 9, 130592067: 130592067
48 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh38 Chromosome 9, 127829788: 127829788
49 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh38 Chromosome 18, 51058134: 51058134
50 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh37 Chromosome 18, 48584504: 48584504

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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