Telangiectasia, Hereditary Hemorrhagic, Type 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Neuronal diseases Eye diseases Liver diseases Respiratory diseases Bone diseases Skin diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

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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.

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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:

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Symptoms & Phenotypes for Telangiectasia, Hereditary Hemorrhagic, Type 1

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

³⁰ (show all 48)

#	Description	HPO 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

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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

Bevacizumab

Approved, Investigational

Phase 4

216974-75-3

135329020

Angiogenesis Inhibitors

Phase 4

Antineoplastic Agents, Immunological

Phase 4

Petrolatum

Approved, Investigational

Phase 3

8009-03-8

Mupirocin

Approved, Investigational, Vet_approved

Phase 3

12650-69-0

446596

Propranolol

Approved, Investigational

Phase 3

318-98-9, 525-66-6

62882 4946

Tranexamic acid

Approved

Phase 3

1197-18-8

5526

Adrenergic beta-Antagonists

Phase 3

Adrenergic Antagonists

Phase 3

Neurotransmitter Agents

Phase 3

Adrenergic Agents

Phase 3

Anti-Arrhythmia Agents

Phase 3

Antihypertensive Agents

Phase 3

Vasodilator Agents

Phase 3

Hemostatics

Phase 3

Coagulants

Phase 3

Antifibrinolytic Agents

Phase 3

Soy Bean

Phase 3

Tamoxifen

Approved

Phase 2

10540-29-1, 54965-24-1

2733526

Timolol

Approved

Phase 2

26839-75-8

5478 33624

Somatostatin

Approved, Investigational

Phase 2

38916-34-6, 51110-01-1

53481605 16129706

Octreotide

Approved, Investigational

Phase 2

83150-76-9

383414 6400441

Sodium tetradecyl sulfate

Approved, Investigational

Phase 1, Phase 2

1191-50-0, 139-88-8

5248

Pomalidomide

Approved

Phase 2

19171-19-8

134780

Benzocaine

Approved, Investigational

Phase 2

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 2

1401-55-4

16129878 16129778

Tacrolimus

Approved, Investigational

Phase 2

104987-11-3

6473866 445643

Thalidomide

Approved, Investigational, Withdrawn

Phase 2

50-35-1

5426

Nintedanib

Approved

Phase 2

656247-17-5

135423438 9809715

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

5284616 6436030

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 2

23593-75-1

2812

Doxycycline

Approved, Investigational, Vet_approved

Phase 2

564-25-0

54671203

Iron

Approved

Phase 2

7439-89-6

29936

Peginterferon alfa-2b

Approved

Phase 2

215647-85-1, 99210-65-8

Pharmaceutical Solutions

Phase 2

Antineoplastic Agents, Hormonal

Phase 2

Estrogens

Phase 2

Estrogen Receptor Modulators

Phase 2

Estrogen Receptor Antagonists

Phase 2

Estrogen Antagonists

Phase 2

Hormones

Phase 2

Hormone Antagonists

Phase 2

Selective Estrogen Receptor Modulators

Phase 2

Gastrointestinal Agents

Phase 2

Aluminum hydroxide, magnesium hydroxide, simethicone drug combination

Phase 2

Ophthalmic Solutions

Phase 2

TEMPO

Phase 2

Anesthetics

Phase 1, Phase 2

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

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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

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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

Sources

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	Bayrak-Toydemir P...Mao R	16470787	2006
2	Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. ⁶² ⁵⁷ ⁵	Lesca G...French Rendu-Osler Network	15024723	2004
3	Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. ⁶² ⁵⁷ ⁵	Berg J...Guttmacher A	12920067	2003
4	Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. ⁶² ⁵⁷ ⁵	Dakeishi M...Koizumi A	11793473	2002
5	Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. ⁵⁷ ⁵	Canzonieri C...Olivieri C	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	Bossler AD...Ganguly A	16752392	2006
7	Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. ⁵⁷ ⁵	Wehner LE...Nayernia K	16542389	2006
8	Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1. ⁶² ⁵	Saito T...Jovine L	28564608	2017
9	Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. ⁶² ⁵	Heimdal K...Kulseth MA	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	Mallet C...Tillet E	25312062	2015
11	Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses. ⁶² ⁵	Forg T...Lux A	25080347	2014
12	Hereditary hemorrhagic telangiectasia in Japanese patients. ⁶² ⁵	Komiyama M...Morisaki T	24196379	2014
13	Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. ⁶² ⁵	Giordano P...Sabba C	23535011	2013
14	Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. ⁶² ⁵	Kim MJ...Oh SP	21967607	2011
15	Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia. ⁶² ⁵⁷	Letteboer TG...Westermann KJ	18831062	2008
16	Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. ⁶² ⁵	Fontalba A...Botella LM	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	Assis AM...Bertuzzo CS	17219009	2007
18	Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. ⁶² ⁵⁷	Letteboer TG...Westermann CJ	16155196	2006
19	Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. ⁶² ⁵	Fernandez-L A...Botella LM	16470589	2006
20	Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. ⁶² ⁵	Abdalla SA...Letarte M	15879500	2006
21	Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1. ⁶² ⁵	Letarte M...Kumar S	15907823	2005
22	Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred. ⁶² ⁵	Goldschmidt N...Chajek-Shaul T	15849752	2005
23	Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. ⁶² ⁵	Letteboer TG...Ploos van Amstel JK	15517393	2005
24	Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. ⁶² ⁵	Brusgaard K...Horder M	15521985	2004
25	Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. ⁶² ⁵	Sanz-Rodriguez F...Botella LM	15375013	2004
26	Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. ⁶² ⁵	Cymerman U...Letarte M	12673790	2003
27	Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function. ⁶² ⁵	Paquet ME...Letarte M	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	Bourdeau A...Letarte M	10702408	2000
29	Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. ⁶² ⁵	Lux A...Marchuk DA	10749981	2000
30	Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. ⁶² ⁵	Cymerman U...Letarte M	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	Pece-Barbara N...Letarte M	10545596	1999
32	Defective angiogenesis in mice lacking endoglin. ⁶² ⁵⁷	Li DY...Wendel DP	10348742	1999
33	Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. ⁶² ⁵	Gallione CJ...Marchuk DA	9554745	1998
34	Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. ⁶² ⁵	Pece N...Letarte M	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	Greenspan DS...Kwiatkowski DJ	7759113	1995
36	Genetic heterogeneity in hereditary haemorrhagic telangiectasia. ⁶² ⁵⁷	Porteous ME...Burn J	7891373	1994
37	Intrahepatic arteriovenous fistula with pulmonary vascular obstruction in Osler-Rendu-Weber disease. ⁶² ⁵⁷	Childers RW...Rabinowitz M	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	Marinakis NM...Traeger-Synodinos J	34008892	2021
39	Founder Effects in Hereditary Hemorrhagic Telangiectasia. ⁵	Major T...Bereczky Z	33919892	2021
40	Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. ⁵	Shovlin CL...Turro E	32573726	2020
41	Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia. ⁵	Zhao Y...Zhang L	31400083	2019
42	A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. ⁵	Yokoo K...Takahashi H	30073140	2018
43	Clinical and genetic findings in children with central nervous system arteriovenous fistulas. ⁵	Saliou G...Soubrier F	29171923	2017
44	[Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family]. ⁵	Yi Y...Shi X	28989145	2017
45	9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. ⁵	Nambot S...Faivre L	26395556	2016
46	High Frequency of Pulmonary Hypertension-Causing Gene Mutation in Chinese Patients with Chronic Thromboembolic Pulmonary Hypertension. ⁵	Xi Q...Huang Z	26820968	2016
47	Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations. ⁵	Saji N...Kaji R	25868896	2015
48	Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. ⁵	Newman S...Rudd MK	25640679	2015
49	National mutation study among Danish patients with hereditary haemorrhagic telangiectasia. ⁵	Torring PM...Kjeldsen AD	24001356	2014
50	Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1. ⁵	Fontalba A...Botella LM	24267784	2013

Sources

Genes for Telangiectasia, Hereditary Hemorrhagic, Type 1

Genes related to Telangiectasia, Hereditary Hemorrhagic, Type 1 (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ENG	Endoglin	Protein Coding	1325	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵	2601709 9245986 9366572 (more) 9536098 9554745 10545596 10625079 10749981 10982033 11440987 11793473 12673790 12786761 12920067 15024723 15266205 15375013 15517393 15521985 15712271 15849752 15879500 15880681 15907823 16199547 16429404 16470589 16542389 16690726 16705692 16752392 17384219 17576681 17786384 18498373 19270816 19767588 20414677 20656886 20719417 21158752 21967607 22022569 22192717 22385575 22722545 22991266 23535011 23722869 23801935 23919827 24001356 24196379 24267784 25080347 25312062 25970827 26395556 26820968 28564608 28989145 29171923 31400083 32573726 33919892 10702408 16470787 18495117 18607909 25640679 25868896 30073140 34008892
2	LOC102723566	Uncharacterized LOC102723566	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	9554745 10625079 10982033 (more) 11440987 12673790 15024723 15266205 15517393 15712271 15879500 15880681 15907823 16199547 16429404 16752392 17384219 20414677 20656886 20719417 21158752 22022569 22385575 22991266 23535011 23919827 24001356 24196379 25080347 25312062 28564608 32573726 18495117 30073140
3	CCNH	Cyclin H	Protein Coding	400	Pathogenic ⁵
4	RASA1	RAS P21 Protein Activator 1	Protein Coding	400	Pathogenic ⁵
5	ACVRL1	Activin A Receptor Like Type 1	Protein Coding	25	Likely pathogenic ⁵	15024723 15065824 15517393 (more) 16429404 16470787 17219009 17384219 17786384 18673552 20414677 23722869 23919827 24196379

Sources

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

Sources

Expression for Telangiectasia, Hereditary Hemorrhagic, Type 1

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

Sources

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	TGF-beta Signaling Pathways ⁶⁵	10.94	ENG ACVRL1
2	ALK1 signaling events ⁶¹ Show member pathways ALK1 pathway ⁶¹	10.02	ENG ACVRL1

Sources

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