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MCID: TLN003
MIFTS: 53

Telangiectasis

Categories: Cardiovascular diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Telangiectasis

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MalaCards integrated aliases for Telangiectasis:

Name: Telangiectasis 12 44 15 72
Telangiectasia 12 75 29 55 15

Classifications:

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


External Ids:

Disease Ontology 12 DOID:1272
MeSH 44 D013684
NCIt 50 C28194
UMLS 72 C0039446
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Summaries for Telangiectasis

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MalaCards based summary : Telangiectasis, also known as telangiectasia, is related to arterial tortuosity syndrome and retinal telangiectasia. An important gene associated with Telangiectasis is ACVRL1 (Activin A Receptor Like Type 1), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Clonidine and Mecasermin have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and liver, and related phenotypes are Decreased viability and Decreased viability

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 944)
# Related Disease Score Top Affiliating Genes
1 arterial tortuosity syndrome 31.7 TGFBR1 ELN
2 retinal telangiectasia 30.8 VEGFA NDP
3 pulmonary hypertension 30.8 SMAD4 ENG BMPR2 ACVRL1
4 angiodysplasia 30.7 VEGFA ENG ACVRL1
5 weber syndrome 30.7 RASA1 ENG ACVRL1
6 pulmonary arteriovenous malformation 30.7 ENG ACVRL1
7 hereditary hemorrhagic telangiectasia 30.6 SMAD4 GDF2 ENG ACVRL1
8 scleroderma, familial progressive 30.3 FBN1 BMP6
9 tricuspid valve insufficiency 30.2 FBN1 ACVRL1
10 heritable pulmonary arterial hypertension 30.0 GDF2 ENG BMPR2 ACVRL1
11 hepatopulmonary syndrome 29.9 VEGFA BMPR2 ACVRL1
12 arteriovenous malformations of the brain 29.6 VEGFA RASA1 ENG ACVRL1
13 capillary hemangioma 29.6 VEGFA RASA1
14 arteries, anomalies of 29.5 VEGFA BMPR2 ACVRL1
15 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 29.5 TGFBR1 SMAD4 RASA1 ENG ACVRL1
16 aortic aneurysm 29.2 TGFBR1 FBN1 ELN
17 optic disk drusen 29.0 VEGFA ELN
18 connective tissue disease 29.0 FBN1 ELN BMPR2 ACVRL1
19 aortic aneurysm, familial thoracic 1 29.0 TGFBR1 FBN1 ELN
20 pulmonary hypertension, primary, 1 29.0 FBN1 ENG BMPR2 BMP6 ACVRL1
21 arteriovenous malformation 29.0 VEGFA RASA1 ENG BMPR2 ACVRL1
22 venous malformations, multiple cutaneous and mucosal 28.9 SOX18 SMAD4 RASA1 ACVRL1
23 marfan syndrome 28.4 TGFBR1 FBN1 ELN BMP6
24 aortic disease 28.4 TGFBR1 SMAD4 FBN1 ELN
25 vascular disease 28.1 VEGFA ENG ELN BMPR2 BMP6 ACVRL1
26 hypotrichosis-lymphedema-telangiectasia syndrome 12.7
27 ataxia-telangiectasia-like disorder 1 12.7
28 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.6
29 telangiectasia, hereditary hemorrhagic, type 2 12.6
30 telangiectasia, hereditary hemorrhagic, type 5 12.6
31 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.6
32 telangiectasia, hereditary hemorrhagic, type 4 12.5
33 ataxia-telangiectasia-like disorder 2 12.5
34 telangiectasia macularis eruptive perstans 12.5
35 cutaneous telangiectasia and cancer syndrome, familial 12.5
36 telangiectasia macularis eruptiva perstans 12.5
37 epilepsy-telangiectasia 12.4
38 telangiectasia, hereditary hemorrhagic, type 3 12.3
39 telangiectasia, hereditary benign 12.3
40 nijmegen breakage syndrome 12.2
41 ataxia-telangiectasia with generalized skin pigmentation and early death 12.2
42 retinal telangiectasia and hypogammaglobulinemia 12.2
43 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.2
44 reynolds syndrome 12.1
45 rare idiopathic macular telangiectasia 12.1
46 obsolete: conjunctival telangiectasia 12.1
47 tempi syndrome 12.1
48 coats disease 11.8
49 macular telangiectasia type 2 11.8
50 cutaneous collagenous vasculopathy 11.6

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.25 BMPR2
2 Decreased viability GR00221-A-1 10.25 ACVRL1 BMPR2 TGFBR1
3 Decreased viability GR00221-A-2 10.25 ACVRL1
4 Decreased viability GR00221-A-3 10.25 ACVRL1 ATM BMPR2 RASA1
5 Decreased viability GR00221-A-4 10.25 ACVRL1 ATM BMPR2 RASA1 TGFBR1
6 Decreased viability GR00301-A 10.25 BMPR2
7 Decreased viability GR00381-A-1 10.25 RASA1
8 Decreased viability GR00402-S-2 10.25 ACVRL1 ATM BMPR2 RASA1 TGFBR1
9 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 ATM BMPR2 TGFBR1

MGI Mouse Phenotypes related to Telangiectasis:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.33 ACVRL1 ATM BMPR2 ENG FBN1 GDF2
2 growth/size/body region MP:0005378 10.24 ACVRL1 ATM BMP6 BMPR2 ENG FBN1
3 behavior/neurological MP:0005386 10.21 ACVRL1 ATM BMPR2 ENG FBN1 NDP
4 embryo MP:0005380 10.16 ACVRL1 ATM BMPR2 ENG FBN1 RASA1
5 homeostasis/metabolism MP:0005376 10.13 ACVRL1 ATM BMPR2 ENG FBN1 SMAD4
6 immune system MP:0005387 10.11 ATM BMPR2 FBN1 GDF2 RASA1 SMAD4
7 mortality/aging MP:0010768 10.1 ACVRL1 ATM BMPR2 ENG FBN1 RASA1
8 digestive/alimentary MP:0005381 10.07 ACVRL1 ENG RASA1 SMAD4 SOX18 TGFBR1
9 nervous system MP:0003631 10.02 ACVRL1 ATM BMPR2 ENG FBN1 NDP
10 craniofacial MP:0005382 10.01 ACVRL1 ENG FBN1 RASA1 SMAD4 VEGFA
11 integument MP:0010771 9.98 ATM ENG FBN1 SMAD4 SOX18 TGFBR1
12 muscle MP:0005369 9.97 ACVRL1 BMPR2 ENG FBN1 RASA1 SMAD4
13 normal MP:0002873 9.8 ACVRL1 BMPR2 ENG SMAD4 SOX18 TGFBR1
14 reproductive system MP:0005389 9.7 ATM BMP6 FBN1 GDF2 NDP SMAD4
15 respiratory system MP:0005388 9.43 ACVRL1 BMPR2 ENG FBN1 TGFBR1 VEGFA
16 skeleton MP:0005390 9.28 BMP6 BMPR2 FBN1 GDF2 NDP RASA1
Sources

Drugs & Therapeutics for Telangiectasis

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

(show top 50) (show all 252)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Mecasermin Approved, Investigational Phase 4 68562-41-4
3
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
Petrolatum Approved, Investigational Phase 4 8009-03-8
6
Polidocanol Approved Phase 4 9002-92-0
7
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
8
Amantadine Approved Phase 4 768-94-5 2130
9
Metformin Approved Phase 4 657-24-9 4091 14219
10
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
11
Metronidazole Approved Phase 4 443-48-1 4173
12
Azelaic acid Approved Phase 4 123-99-9 2266
13
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
14
Bevacizumab Approved, Investigational Phase 4 216974-75-3
15
Aminolevulinic acid Approved Phase 4 106-60-5 137
16 Contraceptive Agents Phase 4
17 Estradiol 17 beta-cypionate Phase 4
18 Sympatholytics Phase 4
19 arginine Phase 4
20 Estradiol 3-benzoate Phase 4
21 Hormones Phase 4
22 Sclerosing Solutions Phase 4
23 Hormone Antagonists Phase 4
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
25 Adrenergic alpha-2 Receptor Agonists Phase 4
26 Adrenergic Agonists Phase 4
27 Adrenergic alpha-Agonists Phase 4
28 glucocorticoids Phase 4
29 Calcineurin Inhibitors Phase 4
30 Antiparkinson Agents Phase 4
31 Hypoglycemic Agents Phase 4
32 Brimonidine Tartrate Phase 4 70359-46-5
33 Emollients Phase 4
34 Halobetasol Phase 4
35 Vasoconstrictor Agents Phase 4
36 Angiogenesis Inhibitors Phase 4
37 Angiogenesis Modulating Agents Phase 4
38 Antineoplastic Agents, Immunological Phase 4
39
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
40
Tranexamic Acid Approved Phase 3 1197-18-8 5526
41
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
42
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
43 Vaccines Phase 3
44 Hemostatics Phase 3
45 Coagulants Phase 3
46 Antifibrinolytic Agents Phase 3
47 Soy Bean Phase 3
48 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
49 Gastrointestinal Agents Phase 3
50 Antineoplastic Agents, Hormonal Phase 3

Interventional clinical trials:

(show top 50) (show all 217)
# 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 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
3 A Randomized Prospective Study of Endoscopy Bipolar Eletrocoagulation and Argon Plasma Coagulation of Chronic Rectal Bleeding From Radiation Telangiectasias Completed NCT00725244 Phase 4
4 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
6 An Exploratory, Multicenter, Investigator-blinded, Active-controlled Study to Investigate the Efficacy of Topical Azelaic Acid (AzA)15% Gel Twice Daily or Metronidazole Topical Gel 1% Once Daily, Plus Anti-inflammatory Dose Doxycycline (40mg) Once Daily in Subjects With Moderate Papulopustular Rosacea Completed NCT00855595 Phase 4 Azelaic acid (Finacea, BAY39-6251);Metronidazole (Metrogel);Doxycycline (Oracea)
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 Finacea 15% and Brimonidine 0.33% Gel in the Treatment of Rosacea - A Pilot Study Completed NCT02147691 Phase 4 Azelaic acid 15%;Brimonidine 0.33%
9 Treatment of Hypertrophic Scars Using Fractional Laser and Fractional Laser-assisted Topical Corticosteroid Delivery Completed NCT02487212 Phase 4 0.05% Clobetasol propionate;Petrolatum gel
10 Phase 4 Study of Proactive Treatment of Tacrolimus Ointment for Adult Facial Seborrheic Dermatitis Completed NCT01591070 Phase 4 Tacrolimus;Tacrolimus
11 A Randomized, Double-blind Study to Evaluate the Efficacy of Ammonium Lactate Lotion 12% (Lac-hydrin®) and Halobetasol Propionate Ointment 0.05% (Ultravate®) in the Treatment and Maintenance of Psoriasis. Completed NCT01111123 Phase 4 Lac-Hydrin lotion (ammonium lactate lotion 12%) ; UItravate ointment (halobetasol propionate ointment 0.05%);Lac-Hydrin lotion (ammonium lactate lotion 12%); placebo ointment
12 Topical Brimonidine Reduces IPL-induced Erythema Without Affecting Efficacy: a Randomized Controlled Trial in Patients With Facial Telangiectasias Completed NCT02761174 Phase 4 Brimonidine
13 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
14 Photodynamic Therapy for Papulopustular Rosacea Recruiting NCT02075671 Phase 4 Aminolevulinic acid topical solution 20%
15 Treatment of Photodamaged Skin of the décolleté With Fractional Laser, Radio-frequency Microneedling, and Photodynamic Therapy Recruiting NCT03573076 Phase 4
16 Topical Timolol for the Treatment of Benign Vascular Periocular Lesions Withdrawn NCT01250457 Phase 4 topical Timolol
17 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
18 Does Avastin Change Evolution in Juxtafoveal Telangiectasias? Unknown status NCT00406380 Phase 3 Bevacizumab
19 Long Term Outcomes of a Multicentre Controlled Clinical Trial of Breast Irradiation Using Intensity-Modulated Radiation Therapy Unknown status NCT01803139 Phase 3
20 A Randomised Comparison of Breast Conservation With or Without Lumpectomy Radiotherapy Boost Unknown status NCT00138814 Phase 3
21 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.
22 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
23 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3 Intravitreal Injection of Bevacizumab (1.25 mg/0.05ml)
24 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
25 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome. Beneficial or Iatrogenic Effects. Completed NCT00355108 Phase 3 tranexamic acid
26 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Completed NCT03518398 Phase 3
27 Comparison of the Cosmetic Outcome of Hypofractionated Versus Normofractionated Intensity Modulated Radiotherapy (IMRT) in Treatment of Breast Cancer: The KOSIMA Trial Completed NCT01403779 Phase 3
28 A Phase III Study of Adjuvant Radiation Therapy in Early Breast Cancer Comparing the Use of Breast Intensity Modulated Radiation Therapy (IMRT) to Conventional Wedge Technique Completed NCT00187343 Phase 3
29 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03319849 Phase 3
30 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03316300 Phase 3
31 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study Recruiting NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
32 Comparative Multicenter Randomized Study of Aflibercept Versus Placebo in Macular Telangiectasia Type 1 Recruiting NCT03845049 Phase 3 Aflibercept Injection [Eylea];SHAM injection
33 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
34 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 Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
35 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
36 Randomized Double Blind Study to Evaluate the Effect of Low Dose Pazopanib on Bleeding Due to Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT03850964 Phase 2, Phase 3 Pazopanib;Placebo oral capsule
37 Evaluation of the Therapeutic Effect of Platelet Rich Plasma (PRP) in Periorbital Hyperpigmentation(POH) Not yet recruiting NCT03862118 Phase 3
38 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
39 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
40 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2 Submucosal Bevacizumab
41 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2 Bevacizumab
42 Efficacy and Safety of Intralesional Triamcinolone Acetonide in Vitiligo: A Prospective, Double-Blind Randomized Controlled Trial Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
43 A Randomized Double Blind Placebo Controlled Trial of Intranasal Submucosal Bevacizumab in Hereditary Hemorrhagic Telangiectasia Completed NCT01314274 Phase 2 Bevacizumab;NaCl
44 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
45 A Phase 2 Multicenter Randomized Clinical Trial of Ciliary Neurotrophic Factor (CNTF) for Macular Telangiectasia Type 2 (MacTel) Completed NCT01949324 Phase 2
46 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
47 High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal Telangiectasia [HD-LIPT] Completed NCT01205035 Phase 2 ranibizumab 2.0mg
48 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
49 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
50 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

Search NIH Clinical Center for Telangiectasis

Cochrane evidence based reviews: telangiectasis

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Genetic Tests for Telangiectasis

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Genetic tests related to Telangiectasis:

# Genetic test Affiliating Genes
1 Telangiectasia 29
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Anatomical Context for Telangiectasis

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MalaCards organs/tissues related to Telangiectasis:

41
Breast, Skin, Liver, Brain, T Cells, Lung, Endothelial
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Publications for Telangiectasis

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Articles related to Telangiectasis:

(show top 50) (show all 11807)
# Title Authors PMID Year
1
Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation. 9 38
20236665 2010
2
Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells. 9 38
20135064 2010
3
Impaired recruitment of HHT-1 mononuclear cells to the ischaemic heart is due to an altered CXCR4/CD26 balance. 9 38
19762327 2010
4
Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm. 9 38
20141966 2010
5
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. 9 38
19767588 2009
6
Endoglin haploinsufficiency reduces radiation-induced fibrosis and telangiectasia formation in mouse kidneys. 9 38
19576647 2009
7
Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia. 9 38
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. 9 38
19015642 2009
9
[Syndrome of premature ageing in ataxia-telangiectasia patients]. 9 38
19799357 2009
10
ATM gene variants in patients with idiopathic perifoveal telangiectasia. 9 38
18502988 2008
11
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. 9 38
18498373 2008
12
Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia. 9 38
18312453 2008
13
[Analysis of molecular background of hereditary haemorrhagic telangiectasia--Rendu-Osler-Weber disease--preliminary results]. 9 38
19205515 2008
14
Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. 9 38
18156574 2008
15
Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia. 9 38
17576210 2007
16
Generation of a floxed allele of the mouse Endoglin gene. 9 38
17506087 2007
17
Therapeutic action of tranexamic acid in hereditary haemorrhagic telangiectasia (HHT): regulation of ALK-1/endoglin pathway in endothelial cells. 9 38
17264955 2007
18
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. 9 38
16542389 2006
19
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 9 38
16470787 2006
20
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. 9 38
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. 9 38
16902284 2006
22
Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions. 9 38
15993872 2005
23
Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. 9 38
16059938 2005
24
Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. 9 38
15521985 2004
25
No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia. 9 38
15520401 2004
26
Endoglin promotes endothelial cell proliferation and TGF-beta/ALK1 signal transduction. 9 38
15385967 2004
27
Ataxia-telangiectasia, an evolving phenotype. 9 38
15279807 2004
28
Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. 9 38
15115879 2004
29
Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 9 38
15065824 2004
30
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 9 38
15031030 2004
31
Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. 9 38
14972453 2004
32
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 9 38
14684682 2003
33
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. 9 38
12920067 2003
34
Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene. 9 38
12882767 2003
35
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. 9 38
12673790 2003
36
[The relationship between ATM gene silence inducing apoptosis susceptibility and abnormal CDK activity]. 9 38
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. 9 38
12561051 2003
38
Genetics of pulmonary hypertension: from bench to bedside. 9 38
12358355 2002
39
[ATM and Cancer]. 9 38
12513844 2002
40
Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). 9 38
11773580 2002
41
Genetic aspects of pulmonary arterial hypertension. 9 38
11817654 2001
42
Pathogenesis of telangiectasia in scleroderma. 9 38
11316039 2000
43
Endoglin expression on human microvascular endothelial cells association with betaglycan and formation of higher order complexes with TGF-beta signalling receptors. 9 38
10951214 2000
44
A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. 9 38
10899246 2000
45
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. 9 38
10864201 2000
46
Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. 9 38
10625534 2000
47
Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9 38
9497252 1998
48
Endoglin gene polymorphism as a risk factor for sporadic intracerebral hemorrhage. 9 38
9153532 1997
49
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 9 38
8640225 1996
50
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? 9 38
8728706 1996
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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 29)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.2 VEGFA TGFBR1 SOX18 SMAD4 RASA1 GDF2
2
PAK Pathway 64
Show member pathways
 13.12 TGFBR1 SMAD4 GDF2 BMPR2 BMP6 ACVRL1
3
Phospholipase-C Pathway 64
Show member pathways
 12.9 TGFBR1 GDF2 FBN1 ELN BMP6
4
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.1 TGFBR1 GDF2 BMP6 ATM
5
Wnt / Hedgehog / Notch 4
12.06 TGFBR1 SMAD4 ENG BMPR2 BMP6
6
Colorectal Cancer Metastasis 64
12.03 VEGFA TGFBR1 SMAD4
7
Hippo signaling pathway 37
11.97 TGFBR1 SMAD4 BMPR2 BMP6
8
FoxO signaling pathway 37
Show member pathways
 11.93 TGFBR1 SMAD4 ATM
9
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.92 TGFBR1 SMAD4 GDF2 BMP6
10
Integrated Breast Cancer Pathway 1
11.84 VEGFA TGFBR1 SMAD4 BMPR2 ATM
11
SMAD Signaling Network 64
11.8 VEGFA TGFBR1 SMAD4 BMP6 ATM
12
AGE-RAGE signaling pathway in diabetic complications 37
11.76 VEGFA TGFBR1 SMAD4
13
TGF-beta Signaling Pathways 65
11.74 TGFBR1 SMAD4 ENG ACVRL1
14
TGF-beta signaling pathway (KEGG) 37
11.71 TGFBR1 SMAD4 BMPR2 BMP6
15
Loss of Function of SMAD2/3 in Cancer 66
Show member pathways
 11.62 TGFBR1 SMAD4 BMPR2
16
Signaling by BMP 66
Show member pathways
 11.58 SMAD4 BMPR2 BMP6
17
HIF-1-alpha transcription factor network 1
11.53 VEGFA SMAD4 ENG
18
Transcription_P53 signaling pathway 22
11.5 VEGFA TGFBR1 SMAD4 BMP6 ATM
19
IL-2 Gene Expression in Activated and Quiescent T-Cells 64
Show member pathways
 11.46 TGFBR1 SMAD4 RASA1
20
TGF-beta Receptor Signaling (WikiPathways) 1
11.46 TGFBR1 SMAD4 ENG
21
Hepatitis C and Hepatocellular Carcinoma 1
11.39 VEGFA TGFBR1 SMAD4
22
Heart Development 1
11.33 VEGFA SMAD4 BMPR2
23
Glypican 1 network 1
11.06 VEGFA TGFBR1
24
Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex 1
10.98 SMAD4 ATM
25
Cardiomyocyte Differentiation through BMP Receptors 64
10.97 SMAD4 BMPR2
26
NTHi-Induced Signaling 64
10.94 TGFBR1 SMAD4
27
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.85 TGFBR1 SMAD4 FBN1 ENG
28
ALK2 signaling events 1
10.61 SMAD4 BMPR2
29
ALK1 signaling events 1
Show member pathways
 10.45 TGFBR1 SMAD4 GDF2 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 extracellular space GO:0005615 9.8 VEGFA NDP GDF2 FBN1 ENG BMPR2
2 receptor complex GO:0043235 9.26 TGFBR1 ENG BMPR2 ACVRL1
3 activin receptor complex GO:0048179 9.16 TGFBR1 ACVRL1
4 cell surface GO:0009986 9.1 VEGFA TGFBR1 NDP ENG BMPR2 ACVRL1

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

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.99 TGFBR1 SOX18 FBN1 ENG
2 in utero embryonic development GO:0001701 9.96 VEGFA TGFBR1 SOX18 SMAD4 ACVRL1
3 response to hypoxia GO:0001666 9.95 VEGFA SMAD4 ATM ACVRL1
4 positive regulation of angiogenesis GO:0045766 9.93 VEGFA GDF2 ENG ACVRL1
5 angiogenesis GO:0001525 9.93 VEGFA TGFBR1 SOX18 GDF2 ENG ACVRL1
6 negative regulation of cell growth GO:0030308 9.91 SMAD4 GDF2 BMPR2 ACVRL1
7 skeletal system development GO:0001501 9.9 TGFBR1 FBN1 BMP6
8 anterior/posterior pattern specification GO:0009952 9.89 TGFBR1 SMAD4 BMPR2
9 transforming growth factor beta receptor signaling pathway GO:0007179 9.88 TGFBR1 SMAD4 BMPR2 ACVRL1
10 kidney development GO:0001822 9.88 VEGFA TGFBR1 SMAD4 FBN1 BMP6
11 pattern specification process GO:0007389 9.85 TGFBR1 BMPR2 ACVRL1
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.85 TGFBR1 FBN1 ACVRL1
13 SMAD protein signal transduction GO:0060395 9.84 SMAD4 GDF2 BMP6
14 cellular iron ion homeostasis GO:0006879 9.84 SMAD4 GDF2 BMP6
15 ventricular septum morphogenesis GO:0060412 9.82 TGFBR1 SMAD4 BMPR2
16 negative regulation of endothelial cell proliferation GO:0001937 9.81 TGFBR1 GDF2 ACVRL1
17 outflow tract morphogenesis GO:0003151 9.81 VEGFA SOX18 ELN BMPR2
18 blood vessel morphogenesis GO:0048514 9.79 RASA1 GDF2 ACVRL1
19 outflow tract septum morphogenesis GO:0003148 9.78 SMAD4 ENG BMPR2
20 branching involved in blood vessel morphogenesis GO:0001569 9.77 VEGFA GDF2 ENG
21 artery morphogenesis GO:0048844 9.77 VEGFA TGFBR1 ENG
22 vasculogenesis GO:0001570 9.77 VEGFA SOX18 RASA1 GDF2 ENG
23 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.75 TGFBR1 BMPR2 ACVRL1
24 positive regulation of endothelial cell differentiation GO:0045603 9.74 GDF2 BMP6 ACVRL1
25 negative regulation of endothelial cell migration GO:0010596 9.72 GDF2 ACVRL1
26 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.72 SMAD4 ENG
27 positive regulation of chondrocyte differentiation GO:0032332 9.72 BMP6 ACVRL1
28 endocardial cushion morphogenesis GO:0003203 9.72 ENG ACVRL1
29 negative regulation of DNA biosynthetic process GO:2000279 9.72 GDF2 BMPR2 ACVRL1
30 cellular response to BMP stimulus GO:0071773 9.72 SMAD4 GDF2 BMPR2 BMP6 ACVRL1
31 ventricular trabecula myocardium morphogenesis GO:0003222 9.71 TGFBR1 ENG
32 positive regulation of cartilage development GO:0061036 9.71 GDF2 BMPR2
33 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 TGFBR1 GDF2
34 response to transforming growth factor beta GO:0071559 9.71 SMAD4 ENG
35 positive regulation of SMAD protein signal transduction GO:0060391 9.71 TGFBR1 SMAD4 BMP6
36 activin receptor signaling pathway GO:0032924 9.71 TGFBR1 GDF2 BMPR2 ACVRL1
37 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.7 SMAD4 ENG
38 positive regulation of cellular component movement GO:0051272 9.7 VEGFA TGFBR1
39 endothelial cell activation GO:0042118 9.7 TGFBR1 SMAD4
40 coronary artery morphogenesis GO:0060982 9.7 VEGFA TGFBR1
41 lymphangiogenesis GO:0001946 9.7 SOX18 BMPR2 ACVRL1
42 retina vasculature development in camera-type eye GO:0061298 9.69 BMPR2 ACVRL1
43 dorsal aorta morphogenesis GO:0035912 9.69 ENG ACVRL1
44 artery development GO:0060840 9.69 BMPR2 ACVRL1
45 positive regulation of axon extension involved in axon guidance GO:0048842 9.68 VEGFA BMPR2
46 endocardial cell differentiation GO:0060956 9.68 SOX18 SMAD4
47 positive regulation of osteoblast differentiation GO:0045669 9.67 BMPR2 BMP6
48 lymphatic endothelial cell differentiation GO:0060836 9.67 SOX18 BMPR2 ACVRL1
49 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.66 TGFBR1 ENG
50 venous blood vessel development GO:0060841 9.65 BMPR2 ACVRL1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.85 TGFBR1 BMPR2 ATM ACVRL1
2 cytokine activity GO:0005125 9.73 VEGFA NDP GDF2 BMP6
3 SMAD binding GO:0046332 9.58 TGFBR1 BMPR2 ACVRL1
4 I-SMAD binding GO:0070411 9.54 TGFBR1 SMAD4
5 growth factor binding GO:0019838 9.54 TGFBR1 BMPR2 ACVRL1
6 BMP binding GO:0036122 9.52 ENG BMPR2
7 type II transforming growth factor beta receptor binding GO:0005114 9.51 TGFBR1 ENG
8 growth factor activity GO:0008083 9.5 VEGFA GDF2 BMP6
9 transforming growth factor beta receptor activity, type I GO:0005025 9.49 TGFBR1 ACVRL1
10 extracellular matrix constituent conferring elasticity GO:0030023 9.48 FBN1 ELN
11 BMP receptor activity GO:0098821 9.46 BMPR2 ACVRL1
12 transforming growth factor beta binding GO:0050431 9.43 TGFBR1 ENG ACVRL1
13 transforming growth factor beta-activated receptor activity GO:0005024 9.33 TGFBR1 BMPR2 ACVRL1
14 activin binding GO:0048185 9.13 TGFBR1 ENG ACVRL1
15 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.8 TGFBR1 BMPR2 ACVRL1
Sources

Sources for Telangiectasis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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