HHT
MCID: HRD008
MIFTS: 64

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
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Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

MalaCards integrated aliases for Hereditary Hemorrhagic Telangiectasia:

Name: Hereditary Hemorrhagic Telangiectasia 11 24 19 42 58 75 28 5 14 71
Rendu-Osler-Weber Disease 11 19 58 33
Hht 24 19 42 58
Osler-Weber-Rendu Disease 11 24 33
Telangiectasia, Hereditary Hemorrhagic 75 43
Hht - [hereditary Haemorrhagic Telangiectasia] 33
Osler Haemorrhagic Telangiectasia Syndrome 33
Osler Hemorrhagic Telangiectasia Syndrome 11
Telangiectasia Hemorrhagic, Hereditary 38
Telangiectasia Hereditary Hemorrhagic 53
Osler Weber Rendu Syndrome 19
Osler-Weber-Rendu Syndrome 42
Osler-Rendu-Weber Disease 19
Rendu-Osler Disease 58
Orw Disease 19

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-5/10000 (Europe, France, Denmark, Japan, Specific population) 1-9/100000 (United Kingdom, United States) 58

Age Of Onset:

All ages 58

GeneReviews:

24
Penetrance Penetrance is approximately 95% by late adulthood.

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: 42 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 rendu-osler-weber disease, is related to juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome and telangiectasia, hereditary hemorrhagic, type 1, and has symptoms including dyspnea, cyanosis and clubbing. An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (Endoglin), and among its related pathways/superpathways are TGF-beta Signaling Pathways and Signaling by BMP. The drugs Bevacizumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include Lateral Plate Mesoderm, liver and skin, and related phenotypes are telangiectasia of the skin and epistaxis

GARD: 19 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 genetic change 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.

Disease Ontology: 11 A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.

Orphanet: 58 An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.

Wikipedia: 75 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 369)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 33.5 SMAD4 RASA1 GDF2 ENG ACVRL1
2 telangiectasia, hereditary hemorrhagic, type 1 33.3 RASA1 LOC102723566 ENG CCNH ACVRL1
3 telangiectasis 33.0 SMAD4 RASA1 GDF2 ENG ACVRL1
4 arteriovenous malformation 32.6 SMAD4 RASA1 GDF2 ENG ACVRL1
5 pulmonary arteriovenous fistulas 32.1 LOC102723566 ENG
6 pulmonary arteriovenous malformation 32.1 LOC102723566 ENG
7 arteriovenous malformations of the brain 31.8 SMAD4 RASA1 GDF2 ENG ACVRL1
8 weber syndrome 31.8 RASA1 ENG ACVRL1
9 pulmonary hypertension, primary, 1 31.7 LOC102723566 GDF2 ENG ACVRL1
10 pulmonary hypertension 31.7 SMAD4 GDF2 ENG ACVRL1
11 juvenile polyposis syndrome 31.7 SMAD4 GDF2 ACVRL1
12 angiodysplasia 31.5 ENG ACVRL1
13 heritable pulmonary arterial hypertension 31.1 ENG ACVRL1
14 hepatopulmonary syndrome 31.0 GDF2 ENG ACVRL1
15 capillary malformation-arteriovenous malformation 1 30.7 RASA1 CCNH
16 basal cell carcinoma 1 30.5 RASA1 CCNH
17 generalized juvenile polyposis/juvenile polyposis coli 30.4 SMAD4 ENG
18 telangiectasia, hereditary hemorrhagic, type 3 11.4
19 telangiectasia, hereditary hemorrhagic, type 2 11.4
20 telangiectasia, hereditary hemorrhagic, type 4 11.3
21 telangiectasia, hereditary hemorrhagic, type 5 11.3
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 11.1
23 deficiency anemia 10.8
24 vascular disease 10.8
25 iron metabolism disease 10.8
26 portal hypertension 10.7
27 iron deficiency anemia 10.7
28 intracranial abscess 10.7
29 transient cerebral ischemia 10.6
30 active peptic ulcer disease 10.6
31 congestive heart failure 10.6
32 encephalopathy 10.6
33 cholangitis 10.5
34 hepatic encephalopathy 10.5
35 liver cirrhosis 10.5
36 migraine with or without aura 1 10.5
37 thrombophilia due to thrombin defect 10.5
38 liver disease 10.5
39 hemangioma 10.5
40 hypertension, essential 10.4
41 varicose veins 10.4
42 pulmonary venoocclusive disease 10.4 SMAD4 GDF2 ENG ACVRL1
43 factor viii deficiency 10.4
44 pulmonary embolism 10.4
45 angioosteohypertrophic syndrome 10.4 RASA1 CCNH
46 peripheral vascular disease 10.4 GDF2 ENG ACVRL1
47 cardiovascular organ benign neoplasm 10.4 SMAD4 RASA1 GDF2 ENG ACVRL1
48 basal cell carcinoma, multiple 10.4 RASA1 CCNH
49 klippel-trenaunay-weber syndrome 10.4 RASA1 GDF2 CCNH ACVRL1
50 stroke, ischemic 10.4

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 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 telangiectasia of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100585
2 epistaxis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000421
3 portal hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0001409
4 microcytic anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001935
5 migraine 58 30 Frequent (33%) Frequent (79-30%)
HP:0002076
6 spontaneous hematomas 58 30 Frequent (33%) Frequent (79-30%)
HP:0007420
7 visceral angiomatosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100761
8 cavernous hemangioma 58 30 Frequent (33%) Frequent (79-30%)
HP:0001048
9 cholecystitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001082
10 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
11 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
12 cirrhosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001394
13 cholelithiasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001081
14 venous thrombosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004936
15 nephrolithiasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000787
16 hemoptysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002105
17 conjunctival telangiectasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000524
18 hematuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000790
19 transient ischemic attack 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002326
20 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000646
21 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002239
22 hepatic failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001399
23 esophageal varix 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002040
24 pulmonary embolism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002204
25 pulmonary arterial hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002092
26 subarachnoid hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002138
27 intestinal polyposis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200008
28 cerebral hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001342
29 retinal telangiectasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007763
30 peripheral arteriovenous fistula 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100784
31 arteriovenous malformation 58 Frequent (79-30%)
32 mucosal telangiectasiae 58 Very frequent (99-80%)
33 abnormality of the cerebral vasculature 58 Occasional (29-5%)
34 abnormality of cardiovascular system physiology 58 Frequent (79-30%)

UMLS symptoms related to Hereditary Hemorrhagic Telangiectasia:


dyspnea; cyanosis; clubbing; seizures

Drugs & Therapeutics for Hereditary Hemorrhagic Telangiectasia

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

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3 135329020
2 Antineoplastic Agents, Immunological Phase 4
3
Petrolatum Approved, Investigational Phase 3 8009-03-8
4
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
5
Propranolol Approved, Investigational Phase 3 318-98-9, 525-66-6 62882 4946
6
Tranexamic acid Approved Phase 3 1197-18-8 5526
7 Adrenergic beta-Antagonists Phase 3
8 Adrenergic Antagonists Phase 3
9 Neurotransmitter Agents Phase 3
10 Adrenergic Agents Phase 3
11 Anti-Arrhythmia Agents Phase 3
12 Antihypertensive Agents Phase 3
13 Vasodilator Agents Phase 3
14 Hemostatics Phase 3
15 Coagulants Phase 3
16 Antifibrinolytic Agents Phase 3
17 Soy Bean Phase 3
18
Tamoxifen Approved Phase 2 10540-29-1, 54965-24-1 2733526
19
Timolol Approved Phase 2 26839-75-8 5478 33624
20
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605 16129706
21
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
22
Sodium tetradecyl sulfate Approved, Investigational Phase 1, Phase 2 1191-50-0, 139-88-8 5248
23
Pomalidomide Approved Phase 2 19171-19-8 134780
24
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
25
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
26
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
27
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
28
Nintedanib Approved Phase 2 656247-17-5 135423438 9809715
29
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
30
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
31
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
32
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
33
Iron Approved Phase 2 7439-89-6 29936
34
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
35
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 2 67-97-0, 1406-16-2 5280795 10883523
36
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
37 Vitamins Phase 2
38 Calciferol Phase 2
39 Pharmaceutical Solutions Phase 2
40 Antineoplastic Agents, Hormonal Phase 2
41 Estrogens Phase 2
42 Estrogen Receptor Modulators Phase 2
43 Estrogen Receptor Antagonists Phase 2
44 Estrogen Antagonists Phase 2
45 Hormones Phase 2
46 Hormone Antagonists Phase 2
47 Selective Estrogen Receptor Modulators Phase 2
48 Gastrointestinal Agents Phase 2
49 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
50 Ophthalmic Solutions Phase 2

Interventional clinical trials:

(show top 50) (show all 78)
# 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 Study of the Efficacy of Propranolol for the Management of Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients Completed NCT04113187 Phase 3 Propranolol treatment;Placebo
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 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study Completed NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
8 A Phase II/III Randomized, Placebo Controlled, Double Blind Study to Evaluate the Effects of up to 24 Weeks of Low Dose Pazopanib on Hereditary Hemorrhagic Telangiectasia Related Epistaxis and Anemia Not yet recruiting NCT03850964 Phase 2, Phase 3 Pazopanib;Placebo oral capsule
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 Vitamin D Supplementation and Reduction of Severity and Frequency of Epistaxis in Hereditary Haemorrhagic Telangiectasia Unknown status NCT03981562 Phase 2 Vit D;Placebo Oral Tablet
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 Gel in the Care for Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia: A Double-Blinded, Randomized Controlled Trial Completed NCT04139018 Phase 2 Timolol Gel;Placebo Gel
15 Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile Ectasia Completed NCT00004327 Phase 2 octreotide
16 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 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01402531 Phase 2 Submucosal Bevacizumab
18 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01397695 Phase 2 Bevacizumab
19 A Randomized Double Blind Placebo Controlled Trial of Intranasal Submucosal Bevacizumab in Hereditary Hemorrhagic Telangiectasia Completed NCT01314274 Phase 2 Bevacizumab;NaCl
20 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
21 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
22 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
23 North American Study of Epistaxis in HHT (NOSE) Completed NCT01408030 Phase 2 Sterile saline;Bevacizumab;Estriol;Tranexamic Acid
24 Tacrolimus Trial for Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT04646356 Phase 2 Tacrolimus capsule (low-dose)
25 Pomalidomide for the Treatment of Bleeding in Hereditary Hemorrhagic Telangiectasia Recruiting NCT03910244 Phase 2 Pomalidomide Oral Product;Placebo oral capsule
26 A Phase 2 Study of Bevacizumab for Chronic Bleeding and Iron Deficiency Anemia in Hereditary Hemorrhagic Telangiectasia Recruiting NCT04404881 Phase 2 Bevacizumab
27 Phase II Monocentric Randomized Study on Efficacy of Nintedanib for Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Patients Recruiting NCT04976036 Phase 2 Nintedanib;Placebo
28 Low-dose Sirolimus for Nosebleeds in HHT: A Phase II Pilot Study Recruiting NCT05269849 Phase 2 Sirolimus
29 Efficacy of Nintedanib Per os as a Treatment for Epistaxis in HHT Disease. A National, Randomized, Multicentre Phase II Study Recruiting NCT03954782 Phase 2 Nintedanib 150 mg and 100 mg soft capsules;Oral treatment of placebo soft capsule
30 Doxycycline Crossover Trial for Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
31 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
32 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
33 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
34 The Use of Ferumoxytol (Feraheme) for Whole Body Magnetic Resonance Angiography in Hereditary Hemorrhagic Telangiectasia Completed NCT02977637 Phase 1
35 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
36 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
37 A Randomised, Placebo Controlled, Double Blind, Multicentre Proof of Concept Study to Assess the Safety and Efficacy of Two Doses of VAD044 in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT05406362 Phase 1 VAD044
38 Ranibizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
39 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
40 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
41 Study of Histological Samples From Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00733655
42 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations Unknown status NCT00230620
43 Hammersmith Hospital Patients With Pulmonary Arteriovenous Malformations (PAVMs) and Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
44 Studies of Plasma Proteins Derived From Pulmonary Arteriovenous Malformation Patients Unknown status NCT00230672
45 A Questionnaire Study on Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015
46 Illness Perceptions and the Health Belief Model: Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
47 A Questionnaire Based Study on Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT02690246
48 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT02638012 Floseal
49 Evaluation of Minimal Hepatic Encephalopathy by a Neurophysiological Test in Patients With Hereditary Hemorrhagic Telangiectasia Completed NCT03586115
50 A Questionnaire Study on Hereditary Hemorrhagic Telangiectasia (HHT) and Other Medical Conditions, Compared to the General Population Completed NCT02464644

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 28

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

Organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

MalaCards : Liver, Skin, Eye, Brain, Heart, Bone, Endothelial
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Hereditary Hemorrhagic Telangiectasia

Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50) (show all 2872)
# Title Authors PMID Year
1
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 53 62 24 5
16470787 2006
2
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. 53 62 5
19767588 2009
3
Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. 53 62 5
19270816 2009
4
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. 53 62 5
16752392 2006
5
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. 53 62 5
16705692 2006
6
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. 53 62 5
16470589 2006
7
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. 24 5
15879500 2006
8
Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred. 53 62 5
15849752 2005
9
Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. 53 62 5
15712271 2005
10
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 53 62 5
15517393 2005
11
Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. 53 62 5
15375013 2004
12
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 53 62 5
15024723 2004
13
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. 24 5
12920067 2003
14
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. 53 62 5
12673790 2003
15
Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. 53 62 5
10702408 2000
16
Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. 53 62 5
10749981 2000
17
Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. 53 62 5
10625079 2000
18
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. 53 62 5
10545596 1999
19
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. 53 62 5
9366572 1997
20
Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. 53 62 5
9245986 1997
21
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. 62 5
32573726 2020
22
Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia. 62 5
31400083 2019
23
A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. 62 5
30073140 2018
24
[Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family]. 62 5
28989145 2017
25
Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1. 62 5
28564608 2017
26
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. 62 5
25970827 2016
27
Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations. 62 5
25868896 2015
28
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function. 62 5
25312062 2015
29
Hereditary hemorrhagic telangiectasia in Japanese patients. 62 5
24196379 2014
30
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 62 5
23722869 2014
31
Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1. 62 5
24267784 2013
32
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 62 5
23535011 2013
33
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. 62 5
22991266 2012
34
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 62 5
22722545 2012
35
A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia. 62 5
22385575 2012
36
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. 62 5
22192717 2011
37
Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. 62 5
21967607 2011
38
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 62 5
21158752 2011
39
The physiological role of endoglin in the cardiovascular system. 62 5
20656886 2010
40
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 62 5
20414677 2010
41
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 53 62 24
20101697 2010
42
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. 53 62 24
18792970 2008
43
Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model. 62 5
18495117 2008
44
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. 62 5
17384219 2007
45
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 62 5
17786384 2007
46
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. 62 5
15880681 2005
47
Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. 62 5
15266205 2004
48
Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. 62 5
11793473 2002
49
Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function. 62 5
11440987 2001
50
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. 62 5
9554745 1998

Variations for Hereditary Hemorrhagic Telangiectasia

ClinVar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

5 (show top 50) (show all 766)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ENG, LOC102723566 NC_000009.12:g.(?_127819622)_(127820037_?)del DEL Pathogenic
417398 GRCh37: 9:130581901-130582316
GRCh38: 9:127819622-127820037
2 ENG, LOC102723566 NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) SNV Pathogenic
407135 rs1060501421 GRCh37: 9:130580439-130580439
GRCh38: 9:127818160-127818160
3 ENG, LOC102723566 NM_001114753.3(ENG):c.1327del (p.Leu443fs) DEL Pathogenic
407118 rs1060501413 GRCh37: 9:130581096-130581096
GRCh38: 9:127818817-127818817
4 ENG NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) SNV Pathogenic
419982 rs1064794220 GRCh37: 9:130587611-130587611
GRCh38: 9:127825332-127825332
5 ENG, LOC102723566 NC_000009.12:g.(?_127819616)_(127820043_?)del DEL Pathogenic
458319 GRCh37: 9:130581895-130582322
GRCh38: 9:127819616-127820043
6 ENG, LOC102723566 NM_001114753.3(ENG):c.1410del (p.Gln471fs) DEL Pathogenic
426044 rs1085307433 GRCh37: 9:130581013-130581013
GRCh38: 9:127818734-127818734
7 ENG NM_001114753.3(ENG):c.880_881del (p.Asp294fs) DEL Pathogenic
284669 rs886042916 GRCh37: 9:130587189-130587190
GRCh38: 9:127824910-127824911
8 ENG, LOC102723566 NM_001114753.3(ENG):c.1247dup (p.Ser417fs) DUP Pathogenic
642861 rs1588576923 GRCh37: 9:130582203-130582204
GRCh38: 9:127819924-127819925
9 ENG NM_001114753.3(ENG):c.488_491del (p.Asn163fs) DEL Pathogenic
645811 rs1588583530 GRCh37: 9:130588821-130588824
GRCh38: 9:127826542-127826545
10 ENG NM_001114753.3(ENG):c.753_781del (p.Ile252fs) DEL Pathogenic
650203 rs1588581867 GRCh37: 9:130587545-130587573
GRCh38: 9:127825266-127825294
11 ENG NC_000009.12:g.(?_127854279)_(127854482_?)del DEL Pathogenic
650717 GRCh37: 9:130616558-130616761
GRCh38: 9:127854279-127854482
12 ENG, LOC102723566 NC_000009.12:g.(?_127819612)_(127820047_?)del DEL Pathogenic
583802 GRCh37: 9:130581891-130582326
GRCh38: 9:127819612-127820047
13 ENG, LOC102723566 NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter) SNV Pathogenic
661985 rs997074986 GRCh37: 9:130580632-130580632
GRCh38: 9:127818353-127818353
14 ENG NM_001114753.3(ENG):c.562dup (p.Gln188fs) DUP Pathogenic
663306 rs1588582962 GRCh37: 9:130588100-130588101
GRCh38: 9:127825821-127825822
15 ENG NM_001114753.3(ENG):c.397del (p.Val133fs) DEL Pathogenic
663715 rs1588583640 GRCh37: 9:130588915-130588915
GRCh38: 9:127826636-127826636
16 ENG, LOC102723566 NC_000009.12:g.(?_127819602)_(127820057_?)del DEL Pathogenic
664458 GRCh37: 9:130581881-130582336
GRCh38: 9:127819602-127820057
17 ENG NM_001114753.3(ENG):c.280G>T (p.Glu94Ter) SNV Pathogenic
664833 rs1588585941 GRCh37: 9:130592046-130592046
GRCh38: 9:127829767-127829767
18 ENG NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) INDEL Pathogenic
665098 rs1588581338 GRCh37: 9:130587086-130587087
GRCh38: 9:127824807-127824808
19 ENG NM_001114753.3(ENG):c.314T>A (p.Val105Asp) SNV Pathogenic
665710 rs1588585880 GRCh37: 9:130592012-130592012
GRCh38: 9:127829733-127829733
20 ENG NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) SNV Pathogenic
660455 rs1588596879 GRCh37: 9:130605426-130605426
GRCh38: 9:127843147-127843147
21 ENG NC_000009.12:g.(?_127815907)_(127854365_?)del DEL Pathogenic
830930 GRCh37: 9:130578186-130616644
GRCh38:
22 ENG NC_000009.12:g.(?_127824294)_(127824456_?)del DEL Pathogenic
831280 GRCh37: 9:130586573-130586735
GRCh38:
23 ENG NC_000009.12:g.(?_127843084)_(127843255_?)dup DUP Pathogenic
832916 GRCh37: 9:130605363-130605534
GRCh38:
24 ENG NC_000009.12:g.(?_127815917)_(127854482_?)del DEL Pathogenic
833137 GRCh37: 9:130578196-130616761
GRCh38:
25 ENG NC_000009.12:g.(?_127819612)_(127829837_?)del DEL Pathogenic
833148 GRCh37: 9:130581891-130592116
GRCh38:
26 ENG NC_000009.12:g.(?_127825214)_(127826683_?)del DEL Pathogenic
833416 GRCh37: 9:130587493-130588962
GRCh38:
27 ENG NC_000009.12:g.(?_127854279)_(127854365_?)del DEL Pathogenic
833480 GRCh37: 9:130616558-130616644
GRCh38:
28 ENG NC_000009.12:g.(?_127815672)_(127854482_?)del DEL Pathogenic
831730 GRCh37: 9:130577951-130616761
GRCh38:
29 ENG NM_001114753.3(ENG):c.461dup (p.Ile156fs) DUP Pathogenic
843258 rs1830620889 GRCh37: 9:130588850-130588851
GRCh38: 9:127826571-127826572
30 ENG, LOC102723566 NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter) SNV Pathogenic
854273 rs1830384447 GRCh37: 9:130580595-130580595
GRCh38: 9:127818316-127818316
31 ENG NM_001114753.3(ENG):c.494C>T (p.Pro165Leu) SNV Pathogenic
854634 rs1830620321 GRCh37: 9:130588818-130588818
GRCh38: 9:127826539-127826539
32 ENG NM_001114753.3(ENG):c.600_603dup (p.Ala202fs) DUP Pathogenic
838206 rs1830599875 GRCh37: 9:130588059-130588060
GRCh38: 9:127825780-127825781
33 ENG, LOC102723566 NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter) SNV Pathogenic
848437 rs1830432773 GRCh37: 9:130582215-130582215
GRCh38: 9:127819936-127819936
34 ENG, LOC102723566 NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter) SNV Pathogenic
864367 rs1830375228 GRCh37: 9:130580407-130580407
GRCh38: 9:127818128-127818128
35 ENG NM_001114753.3(ENG):c.766_776del (p.Pro256fs) DEL Pathogenic
943127 rs1830579764 GRCh37: 9:130587550-130587560
GRCh38: 9:127825271-127825281
36 ENG NM_001114753.3(ENG):c.777_778dup (p.Ser260fs) MICROSAT Pathogenic
944925 rs1830579577 GRCh37: 9:130587547-130587548
GRCh38: 9:127825268-127825269
37 ENG NM_001114753.3(ENG):c.752_768del (p.Leu251fs) DEL Pathogenic
946406 rs1830580547 GRCh37: 9:130587558-130587574
GRCh38: 9:127825279-127825295
38 ENG NM_001114753.3(ENG):c.290T>G (p.Leu97Arg) SNV Pathogenic
1066708 GRCh37: 9:130592036-130592036
GRCh38: 9:127829757-127829757
39 ENG NC_000009.11:g.(?_130577951)_(130582326_?)del DEL Pathogenic
1068858 GRCh37: 9:130577951-130582326
GRCh38:
40 ENG NC_000009.11:g.(?_130605363)_(130605542_?)dup DUP Pathogenic
1068859 GRCh37: 9:130605363-130605542
GRCh38:
41 ENG NC_000009.11:g.(?_130579560)_130582216del DEL Pathogenic
1068860 GRCh37:
GRCh38:
42 overlap with 6 genes NC_000009.11:g.(?_130577951)_(130700109_?)del DEL Pathogenic
1070851 GRCh37: 9:130577951-130700109
GRCh38:
43 ENG NC_000009.11:g.(?_130605353)_(130605544_?)del DEL Pathogenic
1070852 GRCh37: 9:130605353-130605544
GRCh38:
44 ENG NC_000009.12:g.(?_127829681)_(127829833_?)del DEL Pathogenic
458321 GRCh37: 9:130591960-130592112
GRCh38: 9:127829681-127829833
45 ENG NM_001114753.3(ENG):c.657_658del (p.Ile220fs) MICROSAT Pathogenic
1070889 GRCh37: 9:130588005-130588006
GRCh38: 9:127825726-127825727
46 ENG NM_001114753.3(ENG):c.654_655del (p.Ile220fs) MICROSAT Pathogenic
1073414 GRCh37: 9:130588008-130588009
GRCh38: 9:127825729-127825730
47 ENG NM_001114753.3(ENG):c.375_378dup (p.Phe127fs) DUP Pathogenic
1073561 GRCh37: 9:130588933-130588934
GRCh38: 9:127826654-127826655
48 ENG NM_001114753.3(ENG):c.1134G>C (p.Ala378_His379=) SNV Pathogenic
1074391 GRCh37: 9:130586583-130586583
GRCh38: 9:127824304-127824304
49 ENG NM_001114753.3(ENG):c.1005_1006insGT (p.Thr336fs) INSERT Pathogenic
1074602 GRCh37: 9:130586711-130586712
GRCh38: 9:127824432-127824433
50 ENG NM_001114753.3(ENG):c.616_617insCTCCA (p.Gly206fs) INSERT Pathogenic
1075714 GRCh37: 9:130588046-130588047
GRCh38: 9:127825767-127825768

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 SMAD4 ENG ACVRL1
2
Show member pathways
10.95 SMAD4 GDF2 ACVRL1
3 10.65 SMAD4 ENG
4
Show member pathways
10.32 SMAD4 GDF2 ENG ACVRL1

GO Terms for Hereditary Hemorrhagic Telangiectasia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.97 ACVRL1 ENG GDF2 SMAD4
2 vasculogenesis GO:0001570 9.95 RASA1 GDF2 ENG
3 cellular response to BMP stimulus GO:0071773 9.88 SMAD4 GDF2 ACVRL1
4 positive regulation of endothelial cell differentiation GO:0045603 9.84 GDF2 ACVRL1
5 negative regulation of DNA biosynthetic process GO:2000279 9.83 GDF2 ACVRL1
6 negative regulation of endothelial cell proliferation GO:0001937 9.83 GDF2 ENG ACVRL1
7 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.81 SMAD4 ENG
8 dorsal aorta morphogenesis GO:0035912 9.76 ENG ACVRL1
9 blood vessel morphogenesis GO:0048514 9.72 RASA1 GDF2 ACVRL1
10 response to transforming growth factor beta GO:0071559 9.67 SMAD4 ENG
11 activin receptor signaling pathway GO:0032924 9.63 SMAD4 GDF2 ACVRL1
12 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.56 SMAD4 GDF2 ENG ACVRL1
13 positive regulation of BMP signaling pathway GO:0030513 9.32 SMAD4 KCP GDF2 ENG ACVRL1
14 endocardial cushion to mesenchymal transition GO:0090500 9.26 ENG ACVRL1

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

# Name GO ID Score Top Affiliating Genes
1 activin binding GO:0048185 9.26 ENG ACVRL1
2 transforming growth factor beta receptor activity GO:0005024 8.92 ENG ACVRL1

Sources for Hereditary Hemorrhagic Telangiectasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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