HHT1
MCID: TLN006
MIFTS: 58

Telangiectasia, Hereditary Hemorrhagic, Type 1 (HHT1)

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 Telangiectasia, Hereditary Hemorrhagic, Type 1

MalaCards integrated aliases for Telangiectasia, Hereditary Hemorrhagic, Type 1:

Name: Telangiectasia, Hereditary Hemorrhagic, Type 1 57 28 12 5
Orw Disease 57 73 5
Hht1 57 73
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber 57
Hereditary Hemorrhagic Telangiectasia of Rendu, Osler, and Weber 73
Telangiectasia Hemorrhagic, Hereditary, Type 1 38
Telangiectasia, Hereditary Hemorrhagic, 1 73
Hereditary Hemorrhagic Telangiectasia 71
Osler-Rendu-Weber Syndrome 1 73
Osler-Rendu-Weber Syndrome 73
Osler-Rendu-Weber Disease 57
Orw1 73
Hht 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity
definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)
cutaneous telangiectases often not evident until 20-30 years of age
incidence 1 in 5,000-8,000
pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2


HPO:

30
telangiectasia, hereditary hemorrhagic, type 1:
Onset and clinical course exacerbated by pregnancy


Classifications:



Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 1

OMIM®: 57 Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. (187300) (Updated 08-Dec-2022)

MalaCards based summary: Telangiectasia, Hereditary Hemorrhagic, Type 1, also known as orw disease, is related to juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome and pulmonary hypertension, primary, 1, and has symptoms including dyspnea, cyanosis and clubbing. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 1 is ENG (Endoglin), and among its related pathways/superpathways are TGF-beta Signaling Pathways and ALK1 signaling events. The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and brain, and related phenotypes are hemoptysis and telangiectasia of the skin

UniProtKB/Swiss-Prot: 73 A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.

Related Diseases for Telangiectasia, Hereditary Hemorrhagic, Type 1

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 Telangiectasia, Hereditary Hemorrhagic, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 31.8 RASA1 ENG ACVRL1
2 pulmonary hypertension, primary, 1 31.3 LOC102723566 ENG ACVRL1
3 angiodysplasia 29.9 ENG ACVRL1
4 pulmonary arteriovenous malformation 29.9 LOC102723566 ENG
5 pulmonary arteriovenous fistulas 29.9 LOC102723566 ENG
6 hepatopulmonary syndrome 29.8 ENG ACVRL1
7 telangiectasis 29.8 RASA1 ENG ACVRL1
8 weber syndrome 29.8 RASA1 ENG ACVRL1
9 arteriovenous malformations of the brain 29.5 RASA1 ENG ACVRL1
10 venous malformations, multiple cutaneous and mucosal 29.5 RASA1 ACVRL1
11 capillary malformation-arteriovenous malformation 1 29.3 RASA1 CCNH
12 arteriovenous malformation 29.2 RASA1 ENG ACVRL1
13 hereditary hemorrhagic telangiectasia 28.9 RASA1 LOC102723566 ENG CCNH ACVRL1
14 telangiectasia, hereditary hemorrhagic, type 5 11.1
15 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
16 aortic valve disease 2 10.4
17 aortic valve disease 3 10.4
18 vascular disease 10.3
19 stroke, ischemic 10.2
20 hepatic encephalopathy 10.2
21 hepatitis c 10.2
22 bladder cancer 10.2
23 meckel diverticulum 10.2
24 pick disease of brain 10.2
25 retinal detachment 10.2
26 niemann-pick disease 10.2
27 deficiency anemia 10.1
28 aortic aneurysm, familial thoracic 4 10.1
29 thrombophilia due to thrombin defect 10.1
30 aortic aneurysm, familial thoracic 1 10.1
31 portal hypertension 10.1
32 bap1 tumor predisposition syndrome 10.1
33 inherited cancer-predisposing syndrome 10.1
34 telangiectasia, hereditary hemorrhagic, type 2 10.1
35 varicose veins 10.0
36 intracranial abscess 10.0
37 esophageal varix 10.0
38 transient cerebral ischemia 10.0
39 active peptic ulcer disease 10.0
40 pulmonary embolism 10.0
41 oto-palatal-digital syndrome 10.0
42 heritable pulmonary arterial hypertension 10.0 ENG ACVRL1
43 cerebral cavernous malformations 9.9
44 juvenile polyposis syndrome 9.9
45 telangiectasia, hereditary hemorrhagic, type 3 9.9
46 myocardial infarction 9.9
47 lung cancer susceptibility 3 9.9
48 pre-eclampsia 9.9
49 chronic pulmonary heart disease 9.9 ENG ACVRL1
50 pulmonary venoocclusive disease 9.9 ENG ACVRL1

Comorbidity relations with Telangiectasia, Hereditary Hemorrhagic, Type 1 via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Iron Deficiency Anemia

Graphical network of the top 20 diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 1:



Diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 1

Symptoms & Phenotypes for Telangiectasia, Hereditary Hemorrhagic, Type 1

Human phenotypes related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

30 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemoptysis 30 Very rare (1%) HP:0002105
2 telangiectasia of the skin 30 Very rare (1%) HP:0100585
3 gastrointestinal hemorrhage 30 Very rare (1%) HP:0002239
4 migraine 30 Very rare (1%) HP:0002076
5 restrictive ventilatory defect 30 Very rare (1%) HP:0002091
6 cerebral arteriovenous malformation 30 Very rare (1%) HP:0002408
7 spontaneous, recurrent epistaxis 30 Very rare (1%) HP:0004406
8 pulmonary arteriovenous malformation 30 Very rare (1%) HP:0006548
9 reduced fev1/fvc ratio 30 Very rare (1%) HP:0030877
10 hepatic arteriovenous malformation 30 Very rare (1%) HP:0006574
11 seizure 30 HP:0001250
12 anemia 30 HP:0001903
13 gastrointestinal angiodysplasia 30 HP:0000471
14 cirrhosis 30 HP:0001394
15 conjunctival telangiectasia 30 HP:0000524
16 dyspnea 30 HP:0002094
17 transient ischemic attack 30 HP:0002326
18 chest pain 30 HP:0100749
19 hematemesis 30 HP:0002248
20 hematochezia 30 HP:0002573
21 pulmonary arterial hypertension 30 HP:0002092
22 subarachnoid hemorrhage 30 HP:0002138
23 cerebral hemorrhage 30 HP:0001342
24 polycythemia 30 HP:0001901
25 hypoxemia 30 HP:0012418
26 cyanosis 30 HP:0000961
27 exertional dyspnea 30 HP:0002875
28 arteriovenous fistulas of celiac and mesenteric vessels 30 HP:0002642
29 spinal arteriovenous malformation 30 HP:0002390
30 lip telangiectasia 30 HP:0000214
31 melena 30 HP:0002249
32 ischemic stroke 30 HP:0002140
33 high-output congestive heart failure 30 HP:0001722
34 brain abscess 30 HP:0030049
35 hemothorax 30 HP:0012151
36 pulmonary hemorrhage 30 HP:0040223
37 clubbing 30 HP:0001217
38 right-to-left shunt 30 HP:0001694
39 gastrointestinal arteriovenous malformation 30 HP:0002629
40 gastrointestinal telangiectasia 30 HP:0002604
41 nail bed telangiectasia 30 HP:0001232
42 dilatation of mesenteric artery 30 HP:0011934
43 tongue telangiectasia 30 HP:0000227
44 nasal mucosa telangiectasia 30 HP:0000434
45 venous varicosities of celiac and mesenteric vessels 30 HP:0002626
46 palate telangiectasia 30 HP:0002707
47 fingerpad telangiectases 30 HP:0006107
48 dilatation of celiac artery 30 HP:0100858

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
seizure
transient ischemic attack
subarachnoid hemorrhage
cerebral arteriovenous malformation
spinal arteriovenous malformation
more
Abdomen Gastrointestinal:
arteriovenous malformation
hematemesis
hematochezia
melena
gi hemorrhage (onset usually in 5th -6th decade)
more
Respiratory:
dyspnea

Cardiovascular Vascular:
arteriovenous fistulas of celiac and mesenteric vessels
arterial aneurysm
venous varicosities

Skeletal Hands:
clubbing
nail bed telangiectases
finger pad telangiectases

Head And Neck Nose:
spontaneous, recurrent epistaxis (onset childhood)
nasal mucosa telangiectases

Skin Nails Hair Skin:
telangiectases (especially on tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips)

Hematology:
anemia
polycythemia

Abdomen Liver:
cirrhosis
hepatic arteriovenous malformation

Respiratory Lung:
cyanosis
pulmonary arteriovenous malformation (pavm), especially lower lobes

Cardiovascular Heart:
high-output congestive heart failure
right-to-left shunt

Head And Neck Eyes:
conjunctival telangiectases

Head And Neck Mouth:
lip telangiectases
tongue telangiectases
palate telangiectases

Clinical features from OMIM®:

187300 (Updated 08-Dec-2022)

UMLS symptoms related to Telangiectasia, Hereditary Hemorrhagic, Type 1:


dyspnea; cyanosis; clubbing; seizures

Drugs & Therapeutics for Telangiectasia, Hereditary Hemorrhagic, Type 1

Drugs for Telangiectasia, Hereditary Hemorrhagic, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3 135329020
2 Angiogenesis Inhibitors Phase 4
3 Antineoplastic Agents, Immunological Phase 4
4
Petrolatum Approved, Investigational Phase 3 8009-03-8
5
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
6
Propranolol Approved, Investigational Phase 3 318-98-9, 525-66-6 62882 4946
7
Tranexamic acid Approved Phase 3 1197-18-8 5526
8 Adrenergic beta-Antagonists Phase 3
9 Adrenergic Antagonists Phase 3
10 Neurotransmitter Agents Phase 3
11 Adrenergic Agents Phase 3
12 Anti-Arrhythmia Agents Phase 3
13 Antihypertensive Agents Phase 3
14 Vasodilator Agents Phase 3
15 Hemostatics Phase 3
16 Coagulants Phase 3
17 Antifibrinolytic Agents Phase 3
18 Soy Bean Phase 3
19
Tamoxifen Approved Phase 2 10540-29-1, 54965-24-1 2733526
20
Timolol Approved Phase 2 26839-75-8 5478 33624
21
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605 16129706
22
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
23
Sodium tetradecyl sulfate Approved, Investigational Phase 1, Phase 2 1191-50-0, 139-88-8 5248
24
Pomalidomide Approved Phase 2 19171-19-8 134780
25
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
26
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
27
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
28
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
29
Nintedanib Approved Phase 2 656247-17-5 135423438 9809715
30
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
31
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
32
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
33
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
34
Iron Approved Phase 2 7439-89-6 29936
35
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
36 Pharmaceutical Solutions Phase 2
37 Antineoplastic Agents, Hormonal Phase 2
38 Estrogens Phase 2
39 Estrogen Receptor Modulators Phase 2
40 Estrogen Receptor Antagonists Phase 2
41 Estrogen Antagonists Phase 2
42 Hormones Phase 2
43 Hormone Antagonists Phase 2
44 Selective Estrogen Receptor Modulators Phase 2
45 Gastrointestinal Agents Phase 2
46 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
47 Ophthalmic Solutions Phase 2
48
TEMPO Phase 2
49 Anesthetics Phase 1, Phase 2
50 Sclerosing Solutions Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 56)
# 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 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
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 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
9 An Uncontrolled, Pilot-study Assessing the Efficacy of Octreotide Long-acting Release to Decrease Transfusion Requirements and Endoscopy Frequency in Patients With Rendu-Osler-Weber and Gastrointestinal Bleeding Unknown status NCT02874326 Phase 2 Octreotide LAR
10 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
11 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
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 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
14 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01402531 Phase 2 Submucosal Bevacizumab
15 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01397695 Phase 2 Bevacizumab
16 A Randomized Double Blind Placebo Controlled Trial of Intranasal Submucosal Bevacizumab in Hereditary Hemorrhagic Telangiectasia Completed NCT01314274 Phase 2 Bevacizumab;NaCl
17 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
18 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
19 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
20 Tacrolimus Trial for Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT04646356 Phase 2 Tacrolimus capsule (low-dose)
21 Pomalidomide for the Treatment of Bleeding in Hereditary Hemorrhagic Telangiectasia Recruiting NCT03910244 Phase 2 Pomalidomide Oral Product;Placebo oral capsule
22 A Phase 2 Study of Bevacizumab for Chronic Bleeding and Iron Deficiency Anemia in Hereditary Hemorrhagic Telangiectasia Recruiting NCT04404881 Phase 2 Bevacizumab
23 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
24 Low-dose Sirolimus for Nosebleeds in HHT: A Phase II Pilot Study Recruiting NCT05269849 Phase 2 Sirolimus
25 Doxycycline Crossover Trial for Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
26 An Open-label, Non-randomized Study of the Efficacy of Pazopanib for the Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Not yet recruiting NCT03850730 Phase 1, Phase 2 Pazopanib
27 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
28 The Use of Ferumoxytol (Feraheme) for Whole Body Magnetic Resonance Angiography in Hereditary Hemorrhagic Telangiectasia Completed NCT02977637 Phase 1
29 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
30 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
31 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
32 Ranibizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
33 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
34 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
35 Illness Perceptions and the Health Belief Model: Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
36 A Questionnaire Based Study on Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT02690246
37 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT02638012 Floseal
38 Evaluation of Minimal Hepatic Encephalopathy by a Neurophysiological Test in Patients With Hereditary Hemorrhagic Telangiectasia Completed NCT03586115
39 A Questionnaire Study on Hereditary Hemorrhagic Telangiectasia (HHT) and Other Medical Conditions, Compared to the General Population Completed NCT02464644
40 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
41 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
42 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT03572556
43 Recurrence of Hereditary Hemorrhagic Telangiectasia (HHT) After Liver Transplantation: Clinical Implications and Physiopathological Insights. Completed NCT03942315
44 Correlation of Graded Transthoracic Contrast Echocardiography With Chest CT Findings After Pulmonary Arteriovenous Malformation Embolization in Patients With Hereditary Hemorrhagic Telangiectasia, 2016 Completed NCT02936349
45 A Retrospective Study of Obstetrical and Neonatal Complications in Hereditary Haemorrhagic Telangiectasia (HHT) Completed NCT03691142
46 Development of a Quality of Life Measurement Scale in Hereditary Haemorrhagic Telangiectasia (HHT) Disease. Completed NCT03695874
47 Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept Completed NCT01752049 Topical timolol maleate;placebo saline drops
48 Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry Recruiting NCT04150822
49 Genotype-phenotype Association Study of ENG and ACVRL1 Genes in the Inflammatory and Endothelial Response in Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT05550376
50 Evaluation of Video-assisted Instructions of Nasal Self-packing in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT03841422

Search NIH Clinical Center for Telangiectasia, Hereditary Hemorrhagic, Type 1

Genetic Tests for Telangiectasia, Hereditary Hemorrhagic, Type 1

Genetic tests related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

# Genetic test Affiliating Genes
1 Telangiectasia, Hereditary Hemorrhagic, Type 1 28 ENG

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 1

Organs/tissues related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

MalaCards : Lung, Liver, Brain, Skin, Tongue, Heart, Colon
ODiseA: Artery-Aorta, Blood And Bone Marrow, Artery-Coronary, Artery, Respiratory System-Lung, Respiratory System

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 1

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

(show top 50) (show all 383)
# Title Authors PMID Year
1
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 62 57 5
16470787 2006
2
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 62 57 5
15024723 2004
3
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. 62 57 5
12920067 2003
4
Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. 62 57 5
11793473 2002
5
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 57 5
23722869 2014
6
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. 57 5
16752392 2006
7
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. 57 5
16542389 2006
8
Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1. 62 5
28564608 2017
9
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. 62 5
25970827 2016
10
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function. 62 5
25312062 2015
11
Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses. 62 5
25080347 2014
12
Hereditary hemorrhagic telangiectasia in Japanese patients. 62 5
24196379 2014
13
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 62 5
23535011 2013
14
Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. 62 5
21967607 2011
15
Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia. 62 57
18831062 2008
16
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. 62 5
18673552 2008
17
Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients. 62 5
17219009 2007
18
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. 62 57
16155196 2006
19
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. 62 5
16470589 2006
20
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. 62 5
15879500 2006
21
Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1. 62 5
15907823 2005
22
Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred. 62 5
15849752 2005
23
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 62 5
15517393 2005
24
Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. 62 5
15521985 2004
25
Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. 62 5
15375013 2004
26
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. 62 5
12673790 2003
27
Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function. 62 5
11440987 2001
28
Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. 62 5
10702408 2000
29
Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. 62 5
10749981 2000
30
Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. 62 5
10625079 2000
31
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. 62 5
10545596 1999
32
Defective angiogenesis in mice lacking endoglin. 62 57
10348742 1999
33
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. 62 5
9554745 1998
34
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. 62 5
9366572 1997
35
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. 62 57
7759113 1995
36
Genetic heterogeneity in hereditary haemorrhagic telangiectasia. 62 57
7891373 1994
37
Intrahepatic arteriovenous fistula with pulmonary vascular obstruction in Osler-Rendu-Weber disease. 62 57
6034960 1967
38
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
39
Founder Effects in Hereditary Hemorrhagic Telangiectasia. 5
33919892 2021
40
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. 5
32573726 2020
41
Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia. 5
31400083 2019
42
A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. 5
30073140 2018
43
Clinical and genetic findings in children with central nervous system arteriovenous fistulas. 5
29171923 2017
44
[Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family]. 5
28989145 2017
45
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. 5
26395556 2016
46
High Frequency of Pulmonary Hypertension-Causing Gene Mutation in Chinese Patients with Chronic Thromboembolic Pulmonary Hypertension. 5
26820968 2016
47
Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations. 5
25868896 2015
48
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
49
National mutation study among Danish patients with hereditary haemorrhagic telangiectasia. 5
24001356 2014
50
Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1. 5
24267784 2013

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 1

ClinVar genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 1:

5 (show top 50) (show all 981)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ENG NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter) SNV Pathogenic
16668 rs121918400 GRCh37: 9:130587239-130587239
GRCh38: 9:127824960-127824960
2 ENG NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del) DEL Pathogenic
16669 GRCh37: 9:130587150-130587188
GRCh38: 9:127824871-127824909
3 ENG, LOC102723566 NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs) DEL Pathogenic
16670 GRCh37: 9:130580531-130580532
GRCh38: 9:127818252-127818253
4 ENG, LOC102723566 NM_001114753.3(ENG):c.1238G>T (p.Gly413Val) SNV Pathogenic
16674 rs121918401 GRCh37: 9:130582213-130582213
GRCh38: 9:127819934-127819934
5 ENG, LOC102723566 NC_000009.12:g.(?_127819622)_(127820037_?)del DEL Pathogenic
417398 GRCh37: 9:130581901-130582316
GRCh38: 9:127819622-127820037
6 ENG, LOC102723566 NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) SNV Pathogenic
407135 rs1060501421 GRCh37: 9:130580439-130580439
GRCh38: 9:127818160-127818160
7 ENG NC_000009.12:g.(?_127843094)_(127843245_?)del DEL Pathogenic
417396 GRCh37: 9:130605373-130605524
GRCh38: 9:127843094-127843245
8 ENG NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) INDEL Pathogenic
407120 rs1064792934 GRCh37: 9:130586657-130586688
GRCh38: 9:127824378-127824409
9 ENG, LOC102723566 NM_001114753.3(ENG):c.1327del (p.Leu443fs) DEL Pathogenic
407118 rs1060501413 GRCh37: 9:130581096-130581096
GRCh38: 9:127818817-127818817
10 ENG and overlap with 1 gene(s) NC_000009.12:g.(?_127815012)_(127854773_?)del DEL Pathogenic
417397 GRCh37: 9:130577291-130617052
GRCh38: 9:127815012-127854773
11 ENG and overlap with 1 gene(s) DEL Pathogenic
437433 GRCh37: 9:130577648-130605372
GRCh38: 9:127815369-127843093
12 ENG NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) SNV Pathogenic
419982 rs1064794220 GRCh37: 9:130587611-130587611
GRCh38: 9:127825332-127825332
13 ENG, LOC102723566 NC_000009.12:g.(?_127819616)_(127820043_?)del DEL Pathogenic
458319 GRCh37: 9:130581895-130582322
GRCh38: 9:127819616-127820043
14 ENG NC_000009.12:g.(?_127843088)_(127843251_?)del DEL Pathogenic
458322 GRCh37: 9:130605367-130605530
GRCh38: 9:127843088-127843251
15 ENG NM_001114753.3(ENG):c.1015_1024del (p.Ala339fs) DEL Pathogenic
478821 rs1554810066 GRCh37: 9:130586693-130586702
GRCh38: 9:127824414-127824423
16 ENG NC_000009.12:g.(?_127824284)_(127854482_?)del DEL Pathogenic
583412 GRCh37: 9:130586563-130616761
GRCh38: 9:127824284-127854482
17 ENG, LOC102723566 NC_000009.12:g.(?_127819612)_(127820047_?)del DEL Pathogenic
583802 GRCh37: 9:130581891-130582326
GRCh38: 9:127819612-127820047
18 ENG NC_000009.12:g.(?_127854269)_(127854482_?)del DEL Pathogenic
583891 GRCh37: 9:130616548-130616761
GRCh38: 9:127854269-127854482
19 ENG NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs) MICROSAT Pathogenic
458326 rs1554810037 GRCh37: 9:130586592-130586593
GRCh38: 9:127824313-127824314
20 ENG, LOC102723566 NM_001114753.3(ENG):c.1410del (p.Gln471fs) DEL Pathogenic
426044 rs1085307433 GRCh37: 9:130581013-130581013
GRCh38: 9:127818734-127818734
21 ENG NM_001114753.3(ENG):c.880_881del (p.Asp294fs) DEL Pathogenic
284669 rs886042916 GRCh37: 9:130587189-130587190
GRCh38: 9:127824910-127824911
22 ENG, LOC102723566 NM_001114753.3(ENG):c.1247dup (p.Ser417fs) DUP Pathogenic
642861 rs1588576923 GRCh37: 9:130582203-130582204
GRCh38: 9:127819924-127819925
23 ENG NM_001114753.3(ENG):c.488_491del (p.Asn163fs) DEL Pathogenic
645811 rs1588583530 GRCh37: 9:130588821-130588824
GRCh38: 9:127826542-127826545
24 ENG NC_000009.12:g.(?_127854279)_(127854482_?)del DEL Pathogenic
650717 GRCh37: 9:130616558-130616761
GRCh38: 9:127854279-127854482
25 ENG NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) SNV Pathogenic
Pathogenic
660455 rs1588596879 GRCh37: 9:130605426-130605426
GRCh38: 9:127843147-127843147
26 ENG, LOC102723566 NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter) SNV Pathogenic
661985 rs997074986 GRCh37: 9:130580632-130580632
GRCh38: 9:127818353-127818353
27 ENG NM_001114753.3(ENG):c.562dup (p.Gln188fs) DUP Pathogenic
663306 rs1588582962 GRCh37: 9:130588100-130588101
GRCh38: 9:127825821-127825822
28 ENG NM_001114753.3(ENG):c.397del (p.Val133fs) DEL Pathogenic
663715 rs1588583640 GRCh37: 9:130588915-130588915
GRCh38: 9:127826636-127826636
29 ENG, LOC102723566 NC_000009.12:g.(?_127819602)_(127820057_?)del DEL Pathogenic
664458 GRCh37: 9:130581881-130582336
GRCh38: 9:127819602-127820057
30 ENG NM_001114753.3(ENG):c.280G>T (p.Glu94Ter) SNV Pathogenic
664833 rs1588585941 GRCh37: 9:130592046-130592046
GRCh38: 9:127829767-127829767
31 ENG NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) INDEL Pathogenic
665098 rs1588581338 GRCh37: 9:130587086-130587087
GRCh38: 9:127824807-127824808
32 ENG NM_001114753.3(ENG):c.314T>A (p.Val105Asp) SNV Pathogenic
665710 rs1588585880 GRCh37: 9:130592012-130592012
GRCh38: 9:127829733-127829733
33 ENG NC_000009.12:g.(?_127815907)_(127854365_?)del DEL Pathogenic
830930 GRCh37: 9:130578186-130616644
GRCh38:
34 ENG NC_000009.12:g.(?_127824294)_(127824456_?)del DEL Pathogenic
831280 GRCh37: 9:130586573-130586735
GRCh38:
35 ENG NC_000009.12:g.(?_127815672)_(127854482_?)del DEL Pathogenic
831730 GRCh37: 9:130577951-130616761
GRCh38:
36 ENG NC_000009.12:g.(?_127843084)_(127843255_?)dup DUP Pathogenic
832916 GRCh37: 9:130605363-130605534
GRCh38:
37 ENG NC_000009.12:g.(?_127815917)_(127854482_?)del DEL Pathogenic
833137 GRCh37: 9:130578196-130616761
GRCh38:
38 ENG NC_000009.12:g.(?_127819612)_(127829837_?)del DEL Pathogenic
833148 GRCh37: 9:130581891-130592116
GRCh38:
39 ENG NC_000009.12:g.(?_127825214)_(127826683_?)del DEL Pathogenic
833416 GRCh37: 9:130587493-130588962
GRCh38:
40 ENG NC_000009.12:g.(?_127854279)_(127854365_?)del DEL Pathogenic
833480 GRCh37: 9:130616558-130616644
GRCh38:
41 ENG NM_001114753.3(ENG):c.461dup (p.Ile156fs) DUP Pathogenic
843258 rs1830620889 GRCh37: 9:130588850-130588851
GRCh38: 9:127826571-127826572
42 ENG NM_001114753.3(ENG):c.600_603dup (p.Ala202fs) DUP Pathogenic
838206 rs1830599875 GRCh37: 9:130588059-130588060
GRCh38: 9:127825780-127825781
43 ENG, LOC102723566 NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter) SNV Pathogenic
848437 rs1830432773 GRCh37: 9:130582215-130582215
GRCh38: 9:127819936-127819936
44 ENG, LOC102723566 NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter) SNV Pathogenic
854273 rs1830384447 GRCh37: 9:130580595-130580595
GRCh38: 9:127818316-127818316
45 ENG NM_001114753.3(ENG):c.494C>T (p.Pro165Leu) SNV Pathogenic
854634 rs1830620321 GRCh37: 9:130588818-130588818
GRCh38: 9:127826539-127826539
46 ENG NM_001114753.3(ENG):c.753_781del (p.Ile252fs) DEL Pathogenic
650203 rs1588581867 GRCh37: 9:130587545-130587573
GRCh38: 9:127825266-127825294
47 ENG, LOC102723566 NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs) INDEL Pathogenic
528066 rs1554809331 GRCh37: 9:130581006-130581008
GRCh38: 9:127818727-127818729
48 ENG and overlap with 1 gene(s) NC_000009.12:g.(?_127815662)_(127820057_?)del DEL Pathogenic
528087 GRCh37: 9:130577941-130582336
GRCh38: 9:127815662-127820057
49 ENG NC_000009.12:g.(?_127829681)_(127829833_?)del DEL Pathogenic
Pathogenic
458321 GRCh37: 9:130591960-130592112
GRCh38: 9:127829681-127829833
50 ENG, LOC102723566 NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter) SNV Pathogenic
864367 rs1830375228 GRCh37: 9:130580407-130580407
GRCh38: 9:127818128-127818128

UniProtKB/Swiss-Prot genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 1:

73 (show all 32)
# Symbol AA change Variation ID SNP ID
1 ENG p.Gly52Val VAR_005193
2 ENG p.Cys53Arg VAR_005194
3 ENG p.Trp149Cys VAR_005195 rs878853657
4 ENG p.Leu306Pro VAR_005197
5 ENG p.Ala160Asp VAR_009120
6 ENG p.Leu221Pro VAR_009121 rs1554810378
7 ENG p.Leu8Pro VAR_026774 rs1564466414
8 ENG p.Val49Phe VAR_026775 rs1252348200
9 ENG p.Leu107Arg VAR_026776
10 ENG p.Ile263Thr VAR_026780
11 ENG p.Cys412Ser VAR_026781
12 ENG p.Val504Met VAR_026782 rs116330805
13 ENG p.Gly413Val VAR_037140 rs121918401
14 ENG p.Ala11Asp VAR_070279
15 ENG p.Val105Asp VAR_070280 rs1588585880
16 ENG p.Ala175Glu VAR_070282
17 ENG p.Ile220Thr VAR_070285 rs1588582695
18 ENG p.Leu221Gln VAR_070286
19 ENG p.Val238Glu VAR_070288 rs1060501415
20 ENG p.Ile263Ser VAR_070289
21 ENG p.Met269Arg VAR_070290
22 ENG p.Ala308Asp VAR_070291
23 ENG p.Cys363Ser VAR_070293 rs1588580782
24 ENG p.Cys394Tyr VAR_070295
25 ENG p.Arg437Trp VAR_070297 rs1434169817
26 ENG p.Leu490Ser VAR_070298 rs763475207
27 ENG p.Arg529His VAR_070299 rs863223538
28 ENG p.Arg529Pro VAR_070300
29 ENG p.Gly545Asp VAR_070301
30 ENG p.Leu547Pro VAR_070303
31 ENG p.Gly603Arg VAR_070306
32 ENG p.Ala604Asp VAR_070307

Expression for Telangiectasia, Hereditary Hemorrhagic, Type 1

Search GEO for disease gene expression data for Telangiectasia, Hereditary Hemorrhagic, Type 1.

Pathways for Telangiectasia, Hereditary Hemorrhagic, Type 1

Pathways related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.94 ENG ACVRL1
2
Show member pathways
10.02 ENG ACVRL1

GO Terms for Telangiectasia, Hereditary Hemorrhagic, Type 1

Biological processes related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.8 ENG ACVRL1
2 BMP signaling pathway GO:0030509 9.78 ENG ACVRL1
3 vasculogenesis GO:0001570 9.76 RASA1 ENG
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.73 ENG ACVRL1
5 negative regulation of cell adhesion GO:0007162 9.71 RASA1 ACVRL1
6 positive regulation of BMP signaling pathway GO:0030513 9.67 ENG ACVRL1
7 negative regulation of endothelial cell proliferation GO:0001937 9.5 ENG ACVRL1
8 endocardial cushion morphogenesis GO:0003203 9.46 ENG ACVRL1
9 blood vessel morphogenesis GO:0048514 9.43 RASA1 ACVRL1
10 dorsal aorta morphogenesis GO:0035912 9.26 ENG ACVRL1
11 endocardial cushion to mesenchymal transition GO:0090500 8.62 ENG ACVRL1

Molecular functions related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.46 ENG ACVRL1
2 activin binding GO:0048185 9.26 ENG ACVRL1
3 transforming growth factor beta receptor activity GO:0005024 8.92 ENG ACVRL1

Sources for Telangiectasia, Hereditary Hemorrhagic, Type 1

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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