HHT1
MCID: TLN006
MIFTS: 56

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

Aliases & Classifications for Telangiectasia, Hereditary Hemorrhagic, Type 1

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

Name: Telangiectasia, Hereditary Hemorrhagic, Type 1 57 13
Orw Disease 57 72 6
Hereditary Hemorrhagic Telangiectasia Type 1 29 6
Hht1 57 72
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber 57
Hereditary Hemorrhagic Telangiectasia of Rendu, Osler, and Weber 72
Telangiectasia Hemorrhagic, Hereditary, Type 1 39
Telangiectasia, Hereditary Hemorrhagic, 1 72
Hereditary Hemorrhagic Telangiectasia 70
Osler-Rendu-Weber Syndrome 1 72
Osler-Rendu-Weber Syndrome 72
Osler-Rendu-Weber Disease 57
Orw1 72
Hht 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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:

31
telangiectasia, hereditary hemorrhagic, type 1:
Inheritance autosomal dominant inheritance
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 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 Telangiectasia, hereditary hemorrhagic, 1: 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 74)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 32.2 ENG ACVRL1
2 pulmonary arteriovenous fistulas 31.6 LOC102723566 ENG
3 pulmonary hypertension, primary, 1 31.2 LOC102723566 ENG ACVRL1
4 weber syndrome 30.2 ENG ACVRL1
5 telangiectasis 30.1 ENG ACVRL1
6 arteriovenous malformations of the brain 30.0 ENG ACVRL1
7 hepatopulmonary syndrome 29.9 ENG ACVRL1
8 angiodysplasia 29.9 ENG ACVRL1
9 arteriovenous malformation 29.7 ENG ACVRL1
10 vascular disease 29.7 ENG ACVRL1
11 pulmonary hypertension 29.6 ENG ACVRL1
12 hereditary hemorrhagic telangiectasia 29.5 LOC102723566 ENG ACVRL1
13 telangiectasia, hereditary hemorrhagic, type 2 29.3 LOC102723566 ENG ACVRL1
14 pulmonary arteriovenous malformation 29.1 LOC102723566 ENG ACVRL1
15 telangiectasia, hereditary hemorrhagic, type 4 11.4
16 telangiectasia, hereditary hemorrhagic, type 5 11.0
17 aortic valve disease 2 10.4
18 hepatocellular carcinoma 10.2
19 stroke, ischemic 10.2
20 hepatic coma 10.2
21 hepatic encephalopathy 10.2
22 meckel diverticulum 10.2
23 pick disease of brain 10.2
24 retinal detachment 10.2
25 niemann-pick disease 10.2
26 juvenile polyposis syndrome 10.1
27 portal hypertension 10.0
28 varicose veins 10.0
29 tumor predisposition syndrome 10.0
30 cutaneous telangiectasia and cancer syndrome, familial 10.0
31 esophageal varix 10.0
32 transient cerebral ischemia 10.0
33 active peptic ulcer disease 10.0
34 pulmonary embolism 10.0
35 inherited cancer-predisposing syndrome 10.0
36 generalized juvenile polyposis/juvenile polyposis coli 10.0
37 cerebral cavernous malformations 9.9
38 fibrosis of extraocular muscles, congenital, 1 9.9
39 telangiectasia, hereditary hemorrhagic, type 3 9.9
40 myocardial infarction 9.9
41 lung cancer susceptibility 3 9.9
42 pre-eclampsia 9.9
43 pulmonary venoocclusive disease 9.9 ENG ACVRL1
44 heritable pulmonary arterial hypertension 9.8 ENG ACVRL1
45 aortic aneurysm, familial thoracic 4 9.8
46 thrombophilia due to thrombin defect 9.8
47 leukemia, chronic myeloid 9.8
48 capillary malformation-arteriovenous malformation 1 9.8
49 acute promyelocytic leukemia 9.8
50 cyanosis, transient neonatal 9.8

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:

31 (show all 48)
# Description HPO Frequency HPO Source Accession
1 telangiectasia of the skin 31 very rare (1%) HP:0100585
2 hemoptysis 31 very rare (1%) HP:0002105
3 migraine 31 very rare (1%) HP:0002076
4 restrictive ventilatory defect 31 very rare (1%) HP:0002091
5 spontaneous abortion 31 very rare (1%) HP:0005268
6 cerebral arteriovenous malformation 31 very rare (1%) HP:0002408
7 spontaneous, recurrent epistaxis 31 very rare (1%) HP:0004406
8 pulmonary arteriovenous malformation 31 very rare (1%) HP:0006548
9 hepatic arteriovenous malformation 31 very rare (1%) HP:0006574
10 reduced fev1/fvc ratio 31 very rare (1%) HP:0030877
11 anemia 31 HP:0001903
12 gastrointestinal angiodysplasia 31 HP:0000471
13 cirrhosis 31 HP:0001394
14 conjunctival telangiectasia 31 HP:0000524
15 dyspnea 31 HP:0002094
16 transient ischemic attack 31 HP:0002326
17 chest pain 31 HP:0100749
18 hematemesis 31 HP:0002248
19 hematochezia 31 HP:0002573
20 pulmonary arterial hypertension 31 HP:0002092
21 subarachnoid hemorrhage 31 HP:0002138
22 cerebral hemorrhage 31 HP:0001342
23 polycythemia 31 HP:0001901
24 hypoxemia 31 HP:0012418
25 cyanosis 31 HP:0000961
26 exertional dyspnea 31 HP:0002875
27 arteriovenous fistulas of celiac and mesenteric vessels 31 HP:0002642
28 spinal arteriovenous malformation 31 HP:0002390
29 lip telangiectasia 31 HP:0000214
30 ischemic stroke 31 HP:0002140
31 high-output congestive heart failure 31 HP:0001722
32 brain abscess 31 HP:0030049
33 melena 31 HP:0002249
34 hemothorax 31 HP:0012151
35 pulmonary hemorrhage 31 HP:0040223
36 clubbing 31 HP:0001217
37 right-to-left shunt 31 HP:0001694
38 gastrointestinal arteriovenous malformation 31 HP:0002629
39 gastrointestinal telangiectasia 31 HP:0002604
40 nail bed telangiectasia 31 HP:0001232
41 dilatation of mesenteric artery 31 HP:0011934
42 seizure 31 HP:0001250
43 tongue telangiectasia 31 HP:0000227
44 nasal mucosa telangiectasia 31 HP:0000434
45 venous varicosities of celiac and mesenteric vessels 31 HP:0002626
46 palate telangiectasia 31 HP:0002707
47 fingerpad telangiectases 31 HP:0006107
48 dilatation of celiac artery 31 HP:0100858

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
anemia
polycythemia

Abdomen Liver:
cirrhosis
hepatic arteriovenous malformation

Neurologic Central Nervous System:
transient ischemic attack
subarachnoid hemorrhage
cerebral arteriovenous malformation
spinal arteriovenous malformation
ischemic stroke
more
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)

Abdomen Gastrointestinal:
arteriovenous malformation
hematemesis
hematochezia
melena
gi hemorrhage (onset usually in 5th -6th decade)
more
Respiratory:
dyspnea

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 20-May-2021)

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


seizures; dyspnea; cyanosis; clubbing

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 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Petrolatum Approved, Investigational Phase 3 8009-03-8
2
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
3
Tranexamic Acid Approved Phase 3 1197-18-8 5526
4
Propranolol Approved, Investigational Phase 3 525-66-6 4946
5
Bevacizumab Approved, Investigational Phase 2, Phase 3 216974-75-3
6 Soy Bean Phase 3
7 Coagulants Phase 3
8 Hemostatics Phase 3
9 Antifibrinolytic Agents Phase 3
10 Anti-Arrhythmia Agents Phase 3
11 Adrenergic Antagonists Phase 3
12 Adrenergic beta-Antagonists Phase 3
13 Adrenergic Agents Phase 3
14 Neurotransmitter Agents Phase 3
15 Antihypertensive Agents Phase 3
16 Vasodilator Agents Phase 3
17 Antineoplastic Agents, Immunological Phase 2, Phase 3
18 Angiogenesis Inhibitors Phase 2, Phase 3
19
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
20
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
21
Tamoxifen Approved Phase 2 10540-29-1 2733526
22
Sodium Tetradecyl Sulfate Approved, Investigational Phase 1, Phase 2 139-88-8, 1191-50-0 14492 5248
23
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
24
Pomalidomide Approved Phase 2 19171-19-8
25
tannic acid Approved Phase 2 1401-55-4
26
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
27
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
28
Timolol Approved Phase 2 26839-75-8 33624 5478
29
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
30
Iron Approved Phase 2 7439-89-6 23925 29936
31
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
32 Hormones Phase 2
33 Antineoplastic Agents, Hormonal Phase 2
34 Gastrointestinal Agents Phase 2
35 Anti-Bacterial Agents Phase 2
36 Pharmaceutical Solutions Phase 2
37 Hormone Antagonists Phase 2
38 Estrogen Antagonists Phase 2
39 Estrogens Phase 2
40 Estrogen Receptor Antagonists Phase 2
41 Estrogen Receptor Modulators Phase 2
42 Anesthetics Phase 1, Phase 2
43 Sclerosing Solutions Phase 1, Phase 2
44 Ophthalmic Solutions Phase 2
45 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
46 TEMPO Phase 2
47 Antiparasitic Agents Phase 2
48 Antimalarials Phase 2
49 Antiprotozoal Agents Phase 2
50 Immunosuppressive Agents Phase 2

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Randomized Double Blind Study to Evaluate the Effect of Low Dose Pazopanib on Bleeding Due to Hereditary Hemorrhagic Telangiectasia Unknown status NCT03850964 Phase 2, Phase 3 Pazopanib;Placebo oral capsule
2 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
3 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
4 Efficacy of Tranexamic Acid Taken Orally in Patients With Hereditary Hemorrhagic Telangiectasia Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
5 Study of the Efficacy of Propranolol for the Management of Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients Recruiting NCT04113187 Phase 3 Propranolol treatment;Placebo
6 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
7 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
8 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
9 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01402531 Phase 2 Submucosal Bevacizumab
10 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01397695 Phase 2 Bevacizumab
11 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
12 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
13 A Randomized Double Blind Placebo Controlled Trial of Intranasal Submucosal Bevacizumab in Hereditary Hemorrhagic Telangiectasia Completed NCT01314274 Phase 2 Bevacizumab;NaCl
14 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
15 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
16 Doxycycline Crossover Trial for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
17 Tacrolimus Crossover Trial for Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT04646356 Phase 2 Tacrolimus capsule (low-dose);Placebo
18 Efficacy of a Timolol Gel in the Care for Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia: A Double-Blinded, Randomized Controlled Trial Recruiting NCT04139018 Phase 2 Timolol Gel;Placebo Gel
19 Pomalidomide for the Treatment of Bleeding in Hereditary Hemorrhagic Telangiectasia Recruiting NCT03910244 Phase 2 Pomalidomide Oral Product;Placebo oral capsule
20 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Recruiting NCT02157987 Phase 1, Phase 2 bevacuzimab spray
21 A Phase 2 Study of Bevacizumab for Chronic Bleeding and Iron Deficiency Anemia in Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT04404881 Phase 2 Bevacizumab
22 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
23 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
24 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
25 The Use of Ferumoxytol (Feraheme) for Whole Body Magnetic Resonance Angiography in Hereditary Hemorrhagic Telangiectasia 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 Ranibizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
28 A Questionnaire Based Study on Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT02690246
29 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
30 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
31 Illness Perceptions and the Health Belief Model: Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
32 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT03572556
33 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT02638012 Floseal
34 Development of a Quality of Life Measurement Scale in Hereditary Haemorrhagic Telangiectasia (HHT) Disease. Completed NCT03695874
35 A Questionnaire Study on Hereditary Hemorrhagic Telangiectasia (HHT) and Other Medical Conditions, Compared to the General Population Completed NCT02464644
36 Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept Completed NCT01752049 Topical timolol maleate;placebo saline drops
37 Correlation of Graded Transthoracic Contrast Echocardiography With Chest CT Findings After Pulmonary Arteriovenous Malformation Embolization in Patients With Hereditary Hemorrhagic Telangiectasia, 2016 Completed NCT02936349
38 Evaluation of Minimal Hepatic Encephalopathy by a Neurophysiological Test in Patients With Hereditary Hemorrhagic Telangiectasia Completed NCT03586115
39 Recurrence of Hereditary Hemorrhagic Telangiectasia (HHT) After Liver Transplantation: Clinical Implications and Physiopathological Insights. Completed NCT03942315
40 Microvascular Plug (MVP) for the Treatment of Pulmonary ArterioVenous Malformations (PAVMs) Recruiting NCT04396041
41 Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT04469517
42 Evaluation of Video-assisted Instructions of Nasal Self-packing in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT03841422
43 Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry Recruiting NCT04150822
44 Nationwide Awareness Campaign and Call for Dental Screening for HHT in Germany Recruiting NCT03549949
45 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (RDCRN# 6203, Protocol Version Date 07Jan10) Recruiting NCT01158807

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 Hereditary Hemorrhagic Telangiectasia Type 1 29 ENG

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 1

MalaCards organs/tissues related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

40
Liver, Eye, Brain, Tongue, Heart, Colon, Endothelial

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 1

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

(show top 50) (show all 170)
# Title Authors PMID Year
1
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 6 57
23722869 2014
2
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 6
16752392 2006
3
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 57 6
16470787 2006
4
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. 57 6
16542389 2006
5
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 57 6
15024723 2004
6
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. 6 57
12920067 2003
7
Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. 57 6
11793473 2002
8
A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. 6 57
8162075 1994
9
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. 6
32573726 2020
10
Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia. 6
31400083 2019
11
Clinical and genetic findings in children with central nervous system arteriovenous fistulas. 6
29171923 2017
12
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. 6
26395556 2016
13
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. 6
25970827 2016
14
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function. 6
25312062 2015
15
National mutation study among Danish patients with hereditary haemorrhagic telangiectasia. 6
24001356 2014
16
Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses. 6
25080347 2014
17
Hereditary hemorrhagic telangiectasia in Japanese patients. 6
24196379 2014
18
Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1. 6
24267784 2013
19
Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. 6
23919827 2013
20
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 6
23535011 2013
21
Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia. 6
23801935 2013
22
Hypogonadotropic hypogonadism associated with hereditary hemorrhagic telangiectasia [corrected]. 6
23710379 2013
23
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. 6
22991266 2012
24
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 6
22722545 2012
25
A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia. 6
22385575 2012
26
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. 6
22192717 2011
27
Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. 6
21967607 2011
28
Anti-VEGF with 3-week intervals is effective on anemia in a patient with severe hereditary hemorrhagic telangiectasia. 6
20824275 2011
29
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 6
21158752 2011
30
Long-term therapy with bevacizumab in hereditary hemorrhagic telangiectasia. 57
21323562 2011
31
Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia. 6
22022569 2011
32
The physiological role of endoglin in the cardiovascular system. 6
20656886 2010
33
Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. 6
20501893 2010
34
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 6
20414677 2010
35
Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. 57
20364125 2010
36
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. 6
19767588 2009
37
More on bevacizumab in hereditary hemorrhagic telangiectasia. 57
19710496 2009
38
More on bevacizumab in hereditary hemorrhagic telangiectasia. 57
19714790 2009
39
Hereditary haemorrhagic telangiectasia: a clinical and scientific review. 57
19337313 2009
40
Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique. 6
19508727 2009
41
Bevacizumab in hereditary hemorrhagic telangiectasia. 57
19439755 2009
42
Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. 6
19270816 2009
43
Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia. 57
18831062 2008
44
Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland. 6
18607909 2008
45
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. 6
18498373 2008
46
Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model. 6
18495117 2008
47
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. 6
18673552 2008
48
Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia. 57
18312453 2008
49
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. 6
17384219 2007
50
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 6
17786384 2007

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 1

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

6 (show top 50) (show all 745)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ENG NM_000118.3(ENG):c.831C>G (p.Tyr277Ter) SNV Pathogenic 16668 rs121918400 GRCh37: 9:130587239-130587239
GRCh38: 9:127824960-127824960
2 ENG ENG, 39-BP DEL, NT882 Deletion Pathogenic 16669 GRCh37:
GRCh38:
3 ENG ENG, 2-BP DEL, NT1153 Deletion Pathogenic 16670 GRCh37:
GRCh38:
4 ENG NM_000118.3(ENG):c.2T>C (p.Met1Thr) SNV Pathogenic 16673 rs267606783 GRCh37: 9:130616633-130616633
GRCh38: 9:127854354-127854354
5 ENG , LOC102723566 NM_000118.3(ENG):c.1238G>T (p.Gly413Val) SNV Pathogenic 16674 rs121918401 GRCh37: 9:130582213-130582213
GRCh38: 9:127819934-127819934
6 ENG NM_000118.3(ENG):c.67+1G>A SNV Pathogenic 449321 rs1554813783 GRCh37: 9:130616567-130616567
GRCh38: 9:127854288-127854288
7 ENG NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) SNV Pathogenic 16676 rs121918402 GRCh37: 9:130591966-130591966
GRCh38: 9:127829687-127829687
8 ENG NM_000118.3(ENG):c.640_643del Microsatellite Pathogenic 220826 rs864622666 GRCh37: 9:130588020-130588023
GRCh38: 9:127825741-127825744
9 ENG NM_000118.3(ENG):c.67del (p.Ser23fs) Deletion Pathogenic 237029 rs878853658 GRCh37: 9:130616568-130616568
GRCh38: 9:127854289-127854289
10 ENG NM_000118.3(ENG):c.447G>C (p.Trp149Cys) SNV Pathogenic 237027 rs878853657 GRCh37: 9:130588865-130588865
GRCh38: 9:127826586-127826586
11 ENG NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) Deletion Pathogenic 213214 rs863223540 GRCh37: 9:130586634-130586637
GRCh38: 9:127824355-127824358
12 ENG NM_000118.3(ENG):c.360+1G>A SNV Pathogenic 265370 rs886039505 GRCh37: 9:130591965-130591965
GRCh38: 9:127829686-127829686
13 ENG , LOC102723566 NM_000118.3(ENG):c.1415_1424del (p.Gln472fs) Deletion Pathogenic 407117 rs1060501412 GRCh37: 9:130580999-130581008
GRCh38: 9:127818720-127818729
14 ENG , LOC102723566 NC_000009.12:g.(?_127819622)_(127820037_?)del Deletion Pathogenic 417398 GRCh37: 9:130581901-130582316
GRCh38: 9:127819622-127820037
15 ENG , LOC102723566 NM_000118.3(ENG):c.1646G>A (p.Cys549Tyr) SNV Pathogenic 407135 rs1060501421 GRCh37: 9:130580439-130580439
GRCh38: 9:127818160-127818160
16 ENG NM_000118.3(ENG):c.524-2A>G SNV Pathogenic 407119 rs1060501414 GRCh37: 9:130588141-130588141
GRCh38: 9:127825862-127825862
17 ENG NM_000118.3(ENG):c.-127C>T SNV Pathogenic 407113 rs1060501408 GRCh37: 9:130616761-130616761
GRCh38: 9:127854482-127854482
18 ENG , LOC102723566 NM_000118.3(ENG):c.1199del (p.Gly400fs) Deletion Pathogenic 407136 rs1060501422 GRCh37: 9:130582252-130582252
GRCh38: 9:127819973-127819973
19 ENG NC_000009.12:g.(?_127843094)_(127843245_?)del Deletion Pathogenic 417396 GRCh37: 9:130605373-130605524
GRCh38: 9:127843094-127843245
20 ENG NM_001114753.2(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) Indel Pathogenic 407120 rs1064792934 GRCh37: 9:130586657-130586688
GRCh38: 9:127824378-127824409
21 ENG , LOC102723566 NM_000118.3(ENG):c.1327del (p.Leu443fs) Deletion Pathogenic 407118 rs1060501413 GRCh37: 9:130581096-130581096
GRCh38: 9:127818817-127818817
22 ENG NM_000118.3(ENG):c.219G>A (p.Thr73=) SNV Pathogenic 407128 rs755348996 GRCh37: 9:130605373-130605373
GRCh38: 9:127843094-127843094
23 ENG NM_000118.3(ENG):c.715dup (p.Glu239fs) Duplication Pathogenic 407137 rs1554810257 GRCh37: 9:130587610-130587611
GRCh38: 9:127825331-127825332
24 ENG and overlap with 1 gene(s) NC_000009.12:g.(?_127815012)_(127854773_?)del Deletion Pathogenic 417397 GRCh37: 9:130577291-130617052
GRCh38: 9:127815012-127854773
25 ENG NM_000118.3(ENG):c.904G>T (p.Glu302Ter) SNV Pathogenic 407132 rs1060501419 GRCh37: 9:130587166-130587166
GRCh38: 9:127824887-127824887
26 ENG and overlap with 1 gene(s) Deletion Pathogenic 437433 GRCh37: 9:130577648-130605372
GRCh38: 9:127815369-127843093
27 ENG NM_000118.3(ENG):c.662T>C (p.Leu221Pro) SNV Pathogenic 435060 rs1554810378 GRCh37: 9:130588001-130588001
GRCh38: 9:127825722-127825722
28 ENG , LOC102723566 NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) SNV Pathogenic 439662 rs1554809450 GRCh37: 9:130581906-130581906
GRCh38: 9:127819627-127819627
29 ENG , LOC102723566 NM_000118.3(ENG):c.1428+2T>A SNV Pathogenic 458337 rs863223543 GRCh37: 9:130580993-130580993
GRCh38: 9:127818714-127818714
30 ENG NM_000118.3(ENG):c.808C>T (p.Gln270Ter) SNV Pathogenic 458355 rs1554810215 GRCh37: 9:130587518-130587518
GRCh38: 9:127825239-127825239
31 ENG , LOC102723566 NM_000118.3(ENG):c.1311G>C (p.Arg437=) SNV Pathogenic 458335 rs1554809448 GRCh37: 9:130581901-130581901
GRCh38: 9:127819622-127819622
32 ENG NM_000118.3(ENG):c.715G>T (p.Glu239Ter) SNV Pathogenic 419982 rs1064794220 GRCh37: 9:130587611-130587611
GRCh38: 9:127825332-127825332
33 ENG NM_001114753.2(ENG):c.1117_1120AAGA[1] (p.Lys374fs) Microsatellite Pathogenic 419225 rs1064793734 GRCh37: 9:130586593-130586596
GRCh38: 9:127824314-127824317
34 ENG NM_000118.3(ENG):c.244del (p.Leu82fs) Deletion Pathogenic 458345 rs1554810921 GRCh37: 9:130592082-130592082
GRCh38: 9:127829803-127829803
35 ENG NC_000009.12:g.(?_127843088)_(127843251_?)del Deletion Pathogenic 458322 GRCh37: 9:130605367-130605530
GRCh38: 9:127843088-127843251
36 ENG NM_000118.3(ENG):c.511C>T (p.Arg171Ter) SNV Pathogenic 439644 rs1554810490 GRCh37: 9:130588801-130588801
GRCh38: 9:127826522-127826522
37 ENG NM_000118.3(ENG):c.1015_1024del (p.Ala339fs) Deletion Pathogenic 478821 rs1554810066 GRCh37: 9:130586693-130586702
GRCh38: 9:127824414-127824423
38 ENG , LOC102723566 NM_000118.3(ENG):c.1286dup (p.Leu430fs) Duplication Pathogenic 458333 rs1554809455 GRCh37: 9:130581925-130581926
GRCh38: 9:127819646-127819647
39 ENG , LOC102723566 NC_000009.12:g.(?_127819616)_(127820043_?)del Deletion Pathogenic 458319 GRCh37: 9:130581895-130582322
GRCh38: 9:127819616-127820043
40 ENG , LOC102723566 NM_000118.3(ENG):c.1672_1684del (p.Gly558fs) Deletion Pathogenic 458340 rs1554809229 GRCh37: 9:130580401-130580413
GRCh38: 9:127818122-127818134
41 ENG NM_000118.3(ENG):c.816+6T>C SNV Pathogenic 453308 rs759191907 GRCh37: 9:130587504-130587504
GRCh38: 9:127825225-127825225
42 ENG NM_000118.3(ENG):c.904dup (p.Glu302fs) Duplication Pathogenic 458356 rs1554810177 GRCh37: 9:130587165-130587166
GRCh38: 9:127824886-127824887
43 ENG NM_000118.3(ENG):c.782G>A (p.Trp261Ter) SNV Pathogenic 458353 rs1060501420 GRCh37: 9:130587544-130587544
GRCh38: 9:127825265-127825265
44 ENG NM_001114753.2(ENG):c.1122_1123AG[1] (p.Glu375fs) Microsatellite Pathogenic 458326 rs1554810037 GRCh37: 9:130586592-130586593
GRCh38: 9:127824313-127824314
45 ENG NM_000118.3(ENG):c.392del (p.Pro131fs) Deletion Pathogenic 458347 rs1554810510 GRCh37: 9:130588920-130588920
GRCh38: 9:127826641-127826641
46 ENG NM_000118.3(ENG):c.277C>T (p.Arg93Ter) SNV Pathogenic 265371 rs886039506 GRCh37: 9:130592049-130592049
GRCh38: 9:127829770-127829770
47 ENG NM_000118.3(ENG):c.219+1G>A SNV Pathogenic 458343 rs1554812253 GRCh37: 9:130605372-130605372
GRCh38: 9:127843093-127843093
48 ENG , LOC102723566 NM_000118.3(ENG):c.1428+1G>A SNV Pathogenic 213216 rs863223542 GRCh37: 9:130580994-130580994
GRCh38: 9:127818715-127818715
49 ENG , LOC102723566 NM_000118.3(ENG):c.1311dupG Duplication Pathogenic 458334 rs1554809446 GRCh37: 9:130581899-130581900
GRCh38: 9:127819620-127819621
50 ENG NM_000118.3(ENG):c.1111dup (p.Val371fs) Duplication Pathogenic 458325 rs1554810041 GRCh37: 9:130586605-130586606
GRCh38: 9:127824326-127824327

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

72 (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 rs155481037
7 ENG p.Leu8Pro VAR_026774 rs156446641
8 ENG p.Val49Phe VAR_026775 rs125234820
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
16 ENG p.Ala175Glu VAR_070282
17 ENG p.Ile220Thr VAR_070285
18 ENG p.Leu221Gln VAR_070286
19 ENG p.Val238Glu VAR_070288 rs106050141
20 ENG p.Ile263Ser VAR_070289
21 ENG p.Met269Arg VAR_070290
22 ENG p.Ala308Asp VAR_070291
23 ENG p.Cys363Ser VAR_070293
24 ENG p.Cys394Tyr VAR_070295
25 ENG p.Arg437Trp VAR_070297 rs143416981
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 10.61 ENG ACVRL1

GO Terms for Telangiectasia, Hereditary Hemorrhagic, Type 1

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 ENG ACVRL1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.54 ENG ACVRL1
2 angiogenesis GO:0001525 9.52 ENG ACVRL1
3 heart development GO:0007507 9.51 ENG ACVRL1
4 response to hypoxia GO:0001666 9.49 ENG ACVRL1
5 positive regulation of angiogenesis GO:0045766 9.48 ENG ACVRL1
6 negative regulation of cell migration GO:0030336 9.46 ENG ACVRL1
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.43 ENG ACVRL1
8 BMP signaling pathway GO:0030509 9.4 ENG ACVRL1
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.37 ENG ACVRL1
10 negative regulation of endothelial cell proliferation GO:0001937 9.32 ENG ACVRL1
11 positive regulation of BMP signaling pathway GO:0030513 9.26 ENG ACVRL1
12 endocardial cushion morphogenesis GO:0003203 9.16 ENG ACVRL1
13 dorsal aorta morphogenesis GO:0035912 8.96 ENG ACVRL1
14 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 9.16 ENG ACVRL1
2 activin binding GO:0048185 8.96 ENG ACVRL1
3 transforming growth factor beta-activated receptor activity GO:0005024 8.62 ENG ACVRL1

Sources for Telangiectasia, Hereditary Hemorrhagic, Type 1

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