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MCID: TLN003
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Telangiectasis

Categories: Cardiovascular diseases
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Aliases & Classifications for Telangiectasis

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MalaCards integrated aliases for Telangiectasis:

Name: Telangiectasis 11 43 14 71 75
Telangiectasia 11 75 28 53 14

Classifications:

MalaCards categories:
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:1272
MeSH 43 D013684
NCIt 49 C28194
SNOMED-CT 68 112641009
UMLS 71 C0039446
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Summaries for Telangiectasis

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MalaCards based summary: Telangiectasis, also known as telangiectasia, is related to nijmegen breakage syndrome and coats disease. An important gene associated with Telangiectasis is ACVRL1 (Activin A Receptor Like Type 1), and among its related pathways/superpathways are Signal Transduction and ERK Signaling. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and endothelial, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region

Wikipedia: 75 Telangiectasias, also known as spider veins, are small dilated blood vessels that can occur near the... more...
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Related Diseases for Telangiectasis

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Diseases related to Telangiectasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1165)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 32.6 H2AC18 ERCC6 ATM
2 coats disease 32.6 VEGFA NDP CTD
3 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 32.4 SMAD4 OR2AG1 GDF2 ENG BMPR2 BMP10
4 angiodysplasia 32.0 VEGFA ENG ACVRL1
5 rothmund-thomson syndrome, type 2 31.8 H2AC18 ERCC6 ATM
6 juvenile polyposis syndrome 31.1 SMAD4 GDF2 BMPR2 ACVRL1
7 arteriovenous malformations of the brain 30.8 VEGFA SMAD4 OR2AG1 GDF2 ENG ACVRL1
8 retinal vascular disease 30.8 VEGFA NDP H2AC18
9 crest syndrome 30.6 H2AC18 FBL CENPB
10 heritable pulmonary arterial hypertension 30.5 ENG BMPR2 ACVRL1
11 xeroderma pigmentosum, complementation group a 30.5 H2AC18 ERCC6 ATM
12 systemic scleroderma 30.5 VEGFA H2AC18 FBN1 FBL CENPB
13 scleroderma, familial progressive 30.4 FBN1 FBL CENPB BMP6
14 aortic aneurysm, familial thoracic 4 30.4 TGFBR1 SMAD4 FBN1
15 pulmonary hypertension 30.4 VEGFA TGFBR1 SMAD4 GDF2 ENG ELN
16 retinal detachment 30.4 VEGFA NDP FBN1 ELN
17 varicose veins 30.3 VEGFA FBN1 ELN
18 colonic benign neoplasm 30.3 VEGFA SMAD4 H2AC18 ATM
19 hereditary hemorrhagic telangiectasia 30.3 VEGFA TGFBR1 SMAD4 OR2AG1 GDF2 ENG
20 aortic aneurysm 30.3 VEGFA TGFBR1 FBN1 ELN
21 lymphangioma 30.2 VEGFA SMAD4 H2AC18 ERCC6
22 aortic aneurysm, familial thoracic 1 30.2 VEGFA TGFBR1 SMAD4 FBN1 ELN ACVRL1
23 vascular disease 30.2 VEGFA FBN1 ENG ELN BMPR2 BMP6
24 telangiectasia, hereditary hemorrhagic, type 1 30.2 ENG ACVRL1
25 sporadic breast cancer 30.2 H2AC18 ERCC6 ATM
26 atrial heart septal defect 30.2 H2AC18 FBN1 ELN BMPR2 BMP10
27 generalized juvenile polyposis/juvenile polyposis coli 30.2 SMAD4 ENG
28 hepatopulmonary syndrome 30.2 VEGFA GDF2 ENG BMPR2 ACVRL1
29 aortic valve insufficiency 30.1 TGFBR1 FBN1 ELN
30 pulmonary hypertension, primary, 1 30.1 GDF2 ENG BMPR2 ACVRL1
31 patent foramen ovale 30.1 FBN1 ELN BMPR2 ACVRL1
32 arterial tortuosity syndrome 30.1 TGFBR1 FBN1 ELN
33 mitral valve disease 30.1 TGFBR1 FBN1 ELN
34 marfan syndrome 30.1 TGFBR1 FBN1 ELN BMP6
35 macular degeneration, age-related, 1 30.1 VEGFA TGFBR1 H2AC18 ERCC6 ELN
36 autosomal recessive cerebellar ataxia 30.0 H2AC18 ERCC6 ATM
37 deficiency anemia 30.0 VEGFA SMAD4 H2AC18 ERCC6 ENG BMP6
38 adenocarcinoma 30.0 VEGFA TGFBR1 SMAD4 BMP6 ATM
39 melanoma, uveal 29.9 VEGFA SMAD4 H2AC18 ERCC6 ENG
40 eye disease 29.9 VEGFA NDP H2AC18 FBN1 ERCC6 ELN
41 dyskeratosis congenita 29.9 H2AC18 FBL ERCC6 ATM
42 hepatic vascular disease 29.9 VEGFA BMPR2 ACVRL1
43 osteonecrosis 29.8 VEGFA ENG BMP6
44 aortic dissection 29.8 TGFBR1 SMAD4 FBN1 ELN
45 intestinal benign neoplasm 29.7 VEGFA SMAD4 H2AC18 ERCC6
46 aortic disease 29.7 TGFBR1 H2AC18 FBN1 ELN
47 refractive error 29.7 VEGFA H2AC18 FBN1 ERCC6
48 hereditary breast ovarian cancer syndrome 29.7 SMAD4 H2AC18 ERCC6 ATM
49 connective tissue disease 29.7 VEGFA H2AC18 FBN1 FBL ERCC6 ELN
50 hair disease 29.7 VEGFA SOX18 H2AC18 ERCC6

Graphical network of the top 20 diseases related to Telangiectasis:



Diseases related to Telangiectasis
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Symptoms & Phenotypes for Telangiectasis

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GenomeRNAi Phenotypes related to Telangiectasis according to GeneCards Suite gene sharing:

25 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.99 ATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.99 ATM TGFBR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.99 ACVRL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.99 ATM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.99 ATM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.99 ATM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.99 ACVRL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.99 TGFBR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.99 ACVRL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.99 ATM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.99 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.99 ACVRL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.99 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.99 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.99 TGFBR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.99 SOX18
17 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.99 BMPR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.99 SOX18
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.99 ACVRL1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.99 TGFBR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.99 BMPR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.99 BMPR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.99 TGFBR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.99 BMPR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.99 TGFBR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.99 ATM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.99 ACVRL1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.99 ACVRL1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.99 ACVRL1 TGFBR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.99 ACVRL1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.99 ATM BMPR2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.99 ACVRL1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.99 ACVRL1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.99 TGFBR1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.99 SOX18
36 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.99 ATM
37 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.99 BMPR2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.99 ACVRL1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.99 SOX18
40 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.99 ACVRL1 ATM BMPR2 TGFBR1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.99 TGFBR1

MGI Mouse Phenotypes related to Telangiectasis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ACVRL1 ATM BMP10 BMP6 BMPR2 CENPB
2 nervous system MP:0003631 10.2 ACVRL1 ATM BMP6 BMPR2 ENG ERCC6
3 cardiovascular system MP:0005385 10.17 ACVRL1 ATM BMP10 BMP6 BMPR2 ELN
4 normal MP:0002873 10.13 ACVRL1 BMP10 BMPR2 CENPB ENG SMAD4
5 muscle MP:0005369 10.13 ACVRL1 BMP10 BMPR2 ELN ENG ERCC6
6 embryo MP:0005380 10.07 ACVRL1 ATM BMP10 BMPR2 ENG FBL
7 skeleton MP:0005390 10 BMP6 BMPR2 ELN ENG ERCC6 FBN1
8 hematopoietic system MP:0005397 9.97 ACVRL1 ATM BMP10 BMP6 BMPR2 ENG
9 mortality/aging MP:0010768 9.8 ACVRL1 ATM BMP10 BMPR2 CENPB ELN
10 integument MP:0010771 9.36 ATM BMP10 BMP6 BMPR2 ENG ERCC6
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Drugs & Therapeutics for Telangiectasis

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Drugs for Telangiectasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 195)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
4
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
5
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
6
Polidocanol Approved Phase 4 9002-92-0 78933
7
Amantadine Approved Phase 4 768-94-5 2130
8
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
9
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 4 55-56-1 2713 9552079
10
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
11 Insulin, Globin Zinc Phase 4
12
Insulin Phase 4
13 Estradiol 3-benzoate Phase 4
14 Estradiol 17 beta-cypionate Phase 4
15 Contraceptive Agents Phase 4
16 Sympatholytics Phase 4
17 Neurotransmitter Agents Phase 4
18 Adrenergic Agents Phase 4
19 Antihypertensive Agents Phase 4
20 Hypoglycemic Agents Phase 4
21 Sclerosing Solutions Phase 4
22 Anti-Infective Agents Phase 4
23 Adrenergic alpha-Agonists Phase 4
24 Adrenergic Agonists Phase 4
25 Analgesics Phase 4
26 Dopamine Agents Phase 4
27 Antiparkinson Agents Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Dermatologic Agents Phase 4
30 Chlorhexidine gluconate Phase 4
31 Disinfectants Phase 4
32 Anti-Infective Agents, Local Phase 4
33
Brimonidine Tartrate Phase 4 70359-46-5
34
Petrolatum Approved, Investigational Phase 3 8009-03-8
35
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
36
Propranolol Approved, Investigational Phase 3 318-98-9, 525-66-6 62882 4946
37
Tranexamic acid Approved Phase 3 1197-18-8 5526
38
Bevacizumab Approved, Investigational Phase 3 216974-75-3 135329020
39
Aflibercept Approved Phase 3 862111-32-8 124490314
40 Adrenergic beta-Antagonists Phase 3
41 Adrenergic Antagonists Phase 3
42 Anti-Arrhythmia Agents Phase 3
43 Vaccines Phase 3
44 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
45 Hemostatics Phase 3
46 Coagulants Phase 3
47 Antifibrinolytic Agents Phase 3
48 Soy Bean Phase 3
49 Angiogenesis Inhibitors Phase 3
50 Antineoplastic Agents, Immunological Phase 3

Interventional clinical trials:

(show top 50) (show all 167)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
3 Polidocanol Versus Glucose For Sclerotherapy Treatment Of Telangiectasia Of The Lower Limbs: Protocol For A Randomized, Controlled Clinical Trial Completed NCT02657252 Phase 4 Glucose;Polidocanol with Glucose
4 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 Intranasal Bevacizumab for HHT-Related Epistaxis Completed NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
6 A Randomized Prospective Study of Endoscopy Bipolar Eletrocoagulation and Argon Plasma Coagulation of Chronic Rectal Bleeding From Radiation Telangiectasias Completed NCT00725244 Phase 4
7 A Clinical Evaluation of the Treatment of Lower Extremity Spider Veins Using a Dual Wavelength Laser Emitting 532 nm and 1064 nm Laser Energy Completed NCT01362192 Phase 4
8 Topical Brimonidine Reduces IPL-induced Erythema Without Affecting Efficacy: a Randomized Controlled Trial in Patients With Facial Telangiectasias Completed NCT02761174 Phase 4 Brimonidine
9 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
10 Does Avastin Change Evolution in Juxtafoveal Telangiectasias? Unknown status NCT00406380 Phase 3 Bevacizumab
11 Study of the Efficacy of Propranolol for the Management of Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients Completed NCT04113187 Phase 3 Propranolol treatment;Placebo
12 Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients With Ataxia Telangiectasia Completed NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
13 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
14 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3 Intravitreal Injection of Bevacizumab (1.25 mg/0.05ml)
15 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.
16 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
17 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study Completed NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
18 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome. Beneficial or Iatrogenic Effects. Completed NCT00355108 Phase 3 tranexamic acid
19 Comparative Multicenter Randomized Study of Aflibercept Versus Placebo in Macular Telangiectasia Type 1 Recruiting NCT03845049 Phase 3 Aflibercept Injection [Eylea];SHAM injection
20 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Recruiting NCT03563053 Phase 3
21 Multicenter Randomized Controlled Trial on the Interest of Intravitreal Injections of Anti-VEGF as Initial and Adjuvant Treatment in Coats Disease Recruiting NCT03940690 Phase 3 Anti-VEGF injections of bevacizumab
22 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of NT-501 in Macular Telangiectasia Type 2 Active, not recruiting NCT03319849 Phase 3
23 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of NT-501 in Macular Telangiectasia Type 2 Active, not recruiting NCT03316300 Phase 3
24 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
25 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
26 Vitamin D Supplementation and Reduction of Severity and Frequency of Epistaxis in Hereditary Haemorrhagic Telangiectasia Unknown status NCT03981562 Phase 2 Vit D;Placebo Oral Tablet
27 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
28 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
29 Phase 2 Study of Non-damaging Retinal Laser Therapy Using PASCAL Laser With Endpoint Management Software for Macular Diseases Unknown status NCT01975103 Phase 2
30 Ranibizumab in Idiopathic Macular Telangiectasia, Type 2. A Prospective Interventional Non-randomized Study Comparing the Efficacy and Safety of Intravitreal Ranibizumab in Type 2 Idiopathic Macular Telangiectasia. Completed NCT00504400 Phase 2 Intravitreal injection ranibizumab
31 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
32 A Phase 2 Multicenter Randomized Clinical Trial of Ciliary Neurotrophic Factor (CNTF) for Macular Telangiectasia Type 2 (MacTel) Completed NCT01949324 Phase 2
33 Extension Study of NT-501 Ciliary Neurotrophic Factor (CNTF) Implant for Macular Telangiectasia (MacTel) Completed NCT03071965 Phase 2
34 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
35 Efficacy and Safety of Bevacizumab for the Treatment Hemorrhagic Hereditary Telangiectasia (HHT) Associated With Severe Hepatic Vascular Malformations. Phase II Study. Completed NCT00843440 Phase 2 Bevacizumab
36 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
37 Treatment of Idiopathic Perifoveal Telangiectasia (IPT) With Open-Label Anecortave Acetate (15mg.). Completed NCT00211328 Phase 2 anecortave acetate
38 Treatment of Congenital Telangiectasia (Coat's Disease) With Open-label Anecortave Acetate (15mg.) Completed NCT00211315 Phase 2 anecortave acetate
39 Efficacy and Safety of a 0.1% Tacrolimus Nasal Ointment as a Treatment for Epistaxis in Hemorrhagic Hereditary Telangiectasia (HHT) - A Double Blind, Randomized, Placebo-controlled, Multicenter Trial Completed NCT03152019 Phase 2 Protopic® (Tacrolimus) 0.1% ointment;Placebo
40 A Phase 2, Open-label, Multi-centre Study to Assess the Efficacy and Safety of Intravitreal THR-317 for the Treatment of Macular Telangiectasia Type 1 (MacTel 1) Completed NCT03669393 Phase 2 THR-317 8mg
41 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
42 Effects of Nicotinamide Riboside (Vitamin B3) in Patients With Ataxia Telangiectasia. Completed NCT03962114 Phase 2
43 High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal Telangiectasia [HD-LIPT] Completed NCT01205035 Phase 2 ranibizumab 2.0mg
44 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01402531 Phase 2 Submucosal Bevacizumab
45 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01397695 Phase 2 Bevacizumab
46 A Randomized Double Blind Placebo Controlled Trial of Intranasal Submucosal Bevacizumab in Hereditary Hemorrhagic Telangiectasia Completed NCT01314274 Phase 2 Bevacizumab;NaCl
47 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
48 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
49 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
50 North American Study of Epistaxis in HHT (NOSE) Completed NCT01408030 Phase 2 Sterile saline;Bevacizumab;Estriol;Tranexamic Acid

Search NIH Clinical Center for Telangiectasis

Cochrane evidence based reviews: telangiectasis

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Genetic Tests for Telangiectasis

About this section

Genetic tests related to Telangiectasis:

# Genetic test Affiliating Genes
1 Telangiectasia 28
Sources

Anatomical Context for Telangiectasis

About this section

Organs/tissues related to Telangiectasis:

MalaCards : Skin, Breast, Endothelial, Liver, Eye, Lung, Brain
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Publications for Telangiectasis

About this section

Articles related to Telangiectasis:

(show top 50) (show all 13749)
# Title Authors PMID Year
1
Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation. 53 62
20236665 2010
2
Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells. 53 62
20135064 2010
3
Impaired recruitment of HHT-1 mononuclear cells to the ischaemic heart is due to an altered CXCR4/CD26 balance. 53 62
19762327 2010
4
Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm. 53 62
20141966 2010
5
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. 53 62
19767588 2009
6
Endoglin haploinsufficiency reduces radiation-induced fibrosis and telangiectasia formation in mouse kidneys. 53 62
19576647 2009
7
Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia. 53 62
19357124 2009
8
Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH. 53 62
19015642 2009
9
[Syndrome of premature ageing in ataxia-telangiectasia patients]. 53 62
19799357 2009
10
ATM gene variants in patients with idiopathic perifoveal telangiectasia. 53 62
18502988 2008
11
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. 53 62
18498373 2008
12
Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia. 53 62
18312453 2008
13
Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. 53 62
18156574 2008
14
[Analysis of molecular background of hereditary haemorrhagic telangiectasia--Rendu-Osler-Weber disease--preliminary results]. 53 62
19205515 2008
15
Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia. 53 62
17576210 2007
16
Generation of a floxed allele of the mouse Endoglin gene. 53 62
17506087 2007
17
Therapeutic action of tranexamic acid in hereditary haemorrhagic telangiectasia (HHT): regulation of ALK-1/endoglin pathway in endothelial cells. 53 62
17264955 2007
18
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 53 62
16470787 2006
19
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. 53 62
16542389 2006
20
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. 53 62
16429404 2006
21
A clue for telangiectasis in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. 53 62
16902284 2006
22
Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions. 53 62
15993872 2005
23
Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. 53 62
16059938 2005
24
Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. 53 62
15521985 2004
25
No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia. 53 62
15520401 2004
26
Endoglin promotes endothelial cell proliferation and TGF-beta/ALK1 signal transduction. 53 62
15385967 2004
27
Ataxia-telangiectasia, an evolving phenotype. 53 62
15279807 2004
28
Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. 53 62
15115879 2004
29
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 53 62
15031030 2004
30
Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 53 62
15065824 2004
31
Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. 53 62
14972453 2004
32
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 53 62
14684682 2003
33
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. 53 62
12920067 2003
34
Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene. 53 62
12882767 2003
35
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. 53 62
12673790 2003
36
[The relationship between ATM gene silence inducing apoptosis susceptibility and abnormal CDK activity]. 53 62
12697104 2003
37
Using a "non uniform pulse sequence" can improve selective coagulation with a Nd:YAG laser (1.06 microm) thanks to Met-hemoglobin absorption: a clinical study on blue leg veins. 53 62
12561051 2003
38
Genetics of pulmonary hypertension: from bench to bedside. 53 62
12358355 2002
39
[ATM and Cancer]. 53 62
12513844 2002
40
Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). 53 62
11773580 2002
41
Genetic aspects of pulmonary arterial hypertension. 53 62
11817654 2001
42
Pathogenesis of telangiectasia in scleroderma. 53 62
11316039 2000
43
Endoglin expression on human microvascular endothelial cells association with betaglycan and formation of higher order complexes with TGF-beta signalling receptors. 53 62
10951214 2000
44
A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. 53 62
10899246 2000
45
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. 53 62
10864201 2000
46
Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. 53 62
10625534 2000
47
Genotype-phenotype relationships in ataxia-telangiectasia and variants. 53 62
9497252 1998
48
Endoglin gene polymorphism as a risk factor for sporadic intracerebral hemorrhage. 53 62
9153532 1997
49
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 53 62
8640225 1996
50
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? 53 62
8728706 1996
Sources

Variations for Telangiectasis

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Expression for Telangiectasis

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Search GEO for disease gene expression data for Telangiectasis.
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Pathways for Telangiectasis

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Pathways related to Telangiectasis according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.67 ACVRL1 BMP10 BMPR2 FBN1 GDF2 H2AC18
2
ERK Signaling 64
Show member pathways
 13.62 ACVRL1 ATM BMP10 BMP6 BMPR2 ELN
3
PAK Pathway 64
Show member pathways
 13.17 TGFBR1 SMAD4 GDF2 BMPR2 BMP6 BMP10
4
Phospholipase-C Pathway 64
Show member pathways
 12.94 TGFBR1 GDF2 FBN1 ELN BMP6 BMP10
5
Overview of interferons-mediated signaling pathway 74
Show member pathways
 12.54 TGFBR1 GDF2 BMP6 BMP10 ATM
6
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.37 TGFBR1 SMAD4 BMPR2 BMP10
7
Wnt / Hedgehog / Notch 3
12.11 TGFBR1 SMAD4 ENG BMPR2 BMP6
8
Signaling by TGFB family members 66
Show member pathways
 12.1 TGFBR1 SMAD4 GDF2 FBN1 BMPR2 BMP10
9
Integrated breast cancer pathway 74
12.01 VEGFA TGFBR1 SMAD4 BMPR2 ATM
10
TGF-beta receptor signaling in skeletal dysplasias 74
Show member pathways
 11.88 TGFBR1 SMAD4 FBN1 ENG
11
TGF-beta receptor signaling activates SMADs 66
Show member pathways
 11.81 TGFBR1 SMAD4 FBN1
12
TGF-beta Signaling Pathways 65
11.79 ACVRL1 ENG SMAD4 TGFBR1
13
Elastic fibre formation 66
Show member pathways
 11.7 FBN1 ELN BMP10
14
Clock-controlled autophagy in bone metabolism 74
11.68 SMAD4 BMPR2 BMP6
15
Burn wound healing 74
11.64 VEGFA FBN1 ELN
16
HIF-1-alpha transcription factor network 61
11.56 VEGFA SMAD4 ENG
17
Transcription_P53 signaling pathway 22
11.47 VEGFA TGFBR1 SMAD4 BMP6 BMP10 ATM
18
Hepatitis C and hepatocellular carcinoma 74
11.46 VEGFA TGFBR1 SMAD4
19
NRP1-triggered signaling pathways in pancreatic cancer 74
11.44 VEGFA TGFBR1 SMAD4
20
Heart development 74
11.38 VEGFA SMAD4 BMPR2 BMP10
21
Signaling by BMP 66
Show member pathways
 11.25 SMAD4 GDF2 BMPR2 BMP6 BMP10 ACVRL1
22
Hypothesized pathways in pathogenesis of cardiovascular disease 74
11.02 TGFBR1 SMAD4 FBN1 ENG
23
Cardiomyocyte Differentiation through BMP Receptors 64
11.01 SMAD4 BMPR2 BMP10
24
G-protein signaling_Rap2B regulation pathway 22
10.92 GDF2 FBN1 ELN BMP6 BMP10
25
Canonical and non-canonical TGF-B signaling 74
10.88 TGFBR1 SMAD4 BMPR2
26
Bone morphogenic protein signaling and regulation 74
10.7 SMAD4 BMPR2
27
ALK2 signaling events 61
10.54 SMAD4 BMPR2
28
ALK1 signaling events 61
Show member pathways
 10.5 TGFBR1 SMAD4 GDF2 ENG BMPR2 ACVRL1
Sources

GO Terms for Telangiectasis

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Cellular components related to Telangiectasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.47 VEGFA TGFBR1 NDP ENG BMPR2 BMP10

Biological processes related to Telangiectasis according to GeneCards Suite gene sharing:

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.61 ACVRL1 ATM BMP6 BMPR2 ENG ERCC6
2 positive regulation of DNA-templated transcription GO:0045893 10.54 ACVRL1 BMP10 GDF2 NDP SMAD4 SOX18
3 in utero embryonic development GO:0001701 10.37 ACVRL1 SMAD4 SOX18 TGFBR1 VEGFA
4 positive regulation of angiogenesis GO:0045766 10.3 VEGFA GDF2 ENG ACVRL1
5 response to hypoxia GO:0001666 10.3 ACVRL1 ATM ENG SMAD4 VEGFA
6 angiogenesis GO:0001525 10.29 ACVRL1 ENG GDF2 SOX18 TGFBR1 VEGFA
7 positive regulation of gene expression GO:0010628 10.28 VEGFA TGFBR1 GDF2 ERCC6 ENG BMPR2
8 transforming growth factor beta receptor signaling pathway GO:0007179 10.27 TGFBR1 SMAD4 ENG ACVRL1
9 negative regulation of cell growth GO:0030308 10.25 SMAD4 GDF2 BMPR2 BMP10 ACVRL1
10 osteoblast differentiation GO:0001649 10.24 BMP6 BMPR2 FBL GDF2 SMAD4
11 SMAD protein signal transduction GO:0060395 10.23 SMAD4 GDF2 BMP6 BMP10
12 vasculogenesis GO:0001570 10.22 ENG GDF2 SOX18 VEGFA
13 heart development GO:0007507 10.22 TGFBR1 SOX18 FBN1 ENG BMP10 ATM
14 kidney development GO:0001822 10.19 BMP10 BMP6 FBN1 SMAD4 TGFBR1 VEGFA
15 ovarian follicle development GO:0001541 10.16 VEGFA SMAD4 ATM
16 outflow tract morphogenesis GO:0003151 10.16 BMPR2 ELN SOX18 VEGFA
17 ventricular septum morphogenesis GO:0060412 10.15 TGFBR1 SMAD4 BMPR2
18 branching involved in blood vessel morphogenesis GO:0001569 10.15 VEGFA GDF2 ENG
19 outflow tract septum morphogenesis GO:0003148 10.14 BMPR2 ENG SMAD4
20 artery morphogenesis GO:0048844 10.13 VEGFA TGFBR1 ENG
21 negative regulation of endothelial cell migration GO:0010596 10.13 GDF2 BMP10 ACVRL1
22 positive regulation of cartilage development GO:0061036 10.11 GDF2 BMPR2 BMP10
23 epithelial to mesenchymal transition GO:0001837 10.1 TGFBR1 SMAD4 ENG
24 pathway-restricted SMAD protein phosphorylation GO:0060389 10.09 TGFBR1 GDF2 BMP10
25 positive regulation of endothelial cell differentiation GO:0045603 10.09 GDF2 BMP6 ACVRL1
26 negative regulation of endothelial cell proliferation GO:0001937 10.07 TGFBR1 GDF2 ENG ACVRL1
27 positive regulation of BMP signaling pathway GO:0030513 10.07 ACVRL1 BMPR2 ENG GDF2 SMAD4
28 negative regulation of DNA biosynthetic process GO:2000279 10.06 GDF2 BMPR2 ACVRL1
29 positive regulation of SMAD protein signal transduction GO:0060391 10.06 TGFBR1 SMAD4 BMPR2 BMP6
30 lymphangiogenesis GO:0001946 10.04 SOX18 BMPR2 ACVRL1
31 positive regulation of endothelial cell proliferation GO:0001938 10.03 ACVRL1 BMP6 BMPR2 GDF2 TGFBR1 VEGFA
32 cellular response to BMP stimulus GO:0071773 10.02 SMAD4 GDF2 BMPR2 BMP6 ACVRL1
33 dorsal aorta morphogenesis GO:0035912 10.01 ENG ACVRL1
34 positive regulation of axon extension involved in axon guidance GO:0048842 10 VEGFA BMPR2
35 BMP signaling pathway GO:0030509 10 SMAD4 GDF2 ENG BMPR2 BMP6 BMP10
36 atrial cardiac muscle tissue morphogenesis GO:0055009 9.99 ENG BMP10
37 venous blood vessel development GO:0060841 9.99 ACVRL1 BMPR2
38 lymphatic endothelial cell differentiation GO:0060836 9.99 SOX18 BMPR2 ACVRL1
39 endocardial cell differentiation GO:0060956 9.98 SMAD4 SOX18
40 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.98 ENG TGFBR1
41 negative regulation of adherens junction organization GO:1903392 9.96 VEGFA BMP6
42 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.9 TGFBR1 BMPR2 ACVRL1
43 regulation of primary metabolic process GO:0080090 9.81 TGFBR1 BMPR2 ACVRL1
44 regulation of nitrogen compound metabolic process GO:0051171 9.75 TGFBR1 BMPR2 ACVRL1
45 regulation of macromolecule metabolic process GO:0060255 9.73 ACVRL1 ATM BMPR2 TGFBR1
46 activin receptor signaling pathway GO:0032924 9.73 ACVRL1 BMP10 BMPR2 GDF2 SMAD4 TGFBR1
47 regulation of multicellular organismal process GO:0051239 9.69 TGFBR1 ACVRL1
48 endocardial cushion to mesenchymal transition GO:0090500 9.65 ENG ACVRL1
49 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.53 TGFBR1 SMAD4 GDF2 ENG BMPR2 BMP6

Molecular functions related to Telangiectasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 10.02 BMP10 BMP6 GDF2 NDP VEGFA
2 SMAD binding GO:0046332 9.85 TGFBR1 SMAD4 ACVRL1
3 BMP receptor activity GO:0098821 9.73 BMPR2 ACVRL1
4 transforming growth factor beta binding GO:0050431 9.73 TGFBR1 ENG ACVRL1
5 activin receptor activity, type I GO:0016361 9.71 TGFBR1 ACVRL1
6 transforming growth factor beta receptor activity, type I GO:0005025 9.67 TGFBR1 ACVRL1
7 activin binding GO:0048185 9.63 TGFBR1 ENG ACVRL1
8 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.26 TGFBR1 BMPR2 ACVRL1
9 transforming growth factor beta receptor activity GO:0005024 9.23 TGFBR1 ENG BMPR2 ACVRL1
Sources

Sources for Telangiectasis

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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