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MCID: TLN003
MIFTS: 56

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 45 15 74
Telangiectasia 12 77 30 56 15

Classifications:

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


External Ids:

Disease Ontology 12 DOID:1272
MeSH 45 D013684
NCIt 51 C28194
UMLS 74 C0039446
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Summaries for Telangiectasis

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MalaCards based summary : Telangiectasis, also known as telangiectasia, is related to retinal telangiectasia and arterial tortuosity syndrome. 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 Mecasermin and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and t cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 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 565)
# Related Disease Score Top Affiliating Genes
1 retinal telangiectasia 33.3 NDP VEGFA
2 arterial tortuosity syndrome 31.5 ELN TGFBR1
3 pulmonary hypertension 30.3 ACVRL1 BMPR2 ENG SMAD4
4 pulmonary arteriovenous malformation 30.3 ACVRL1 ENG
5 pulmonary hypertension, primary, 1 30.2 ACVRL1 BMP6 BMPR2 ENG
6 weber syndrome 30.2 ACVRL1 ENG RASA1
7 hereditary hemorrhagic telangiectasia 29.9 ACVRL1 ENG GDF2 SMAD4
8 angiodysplasia 29.7 ACVRL1 ENG VEGFA
9 hepatopulmonary syndrome 29.4 ACVRL1 BMPR2 VEGFA
10 marfan syndrome 29.3 BMP6 ELN TGFBR1
11 arteriovenous malformations of the brain 29.2 ACVRL1 ENG RASA1 VEGFA
12 arteries, anomalies of 29.1 ACVRL1 BMPR2 VEGFA
13 arteriovenous malformation 28.9 ACVRL1 BMPR2 ENG RASA1 VEGFA
14 optic disk drusen 28.8 ELN VEGFA
15 vascular disease 28.4 ACVRL1 BMP6 BMPR2 ELN ENG VEGFA
16 hypotrichosis-lymphedema-telangiectasia syndrome 12.6
17 ataxia-telangiectasia-like disorder 1 12.6
18 telangiectasia, hereditary hemorrhagic, type 1 12.5
19 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.5
20 telangiectasia, hereditary hemorrhagic, type 2 12.5
21 telangiectasia, hereditary hemorrhagic, type 5 12.5
22 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.4
23 telangiectasia macularis eruptive perstans 12.4
24 ataxia-telangiectasia-like disorder 2 12.4
25 cutaneous telangiectasia and cancer syndrome, familial 12.4
26 telangiectasia macularis eruptiva perstans 12.4
27 telangiectasia, hereditary hemorrhagic, type 4 12.3
28 epilepsy-telangiectasia 12.2
29 telangiectasia, hereditary hemorrhagic, type 3 12.2
30 telangiectasia, hereditary benign 12.2
31 nijmegen breakage syndrome 12.1
32 ataxia-telangiectasia with generalized skin pigmentation and early death 12.1
33 coats disease 12.1
34 retinal telangiectasia and hypogammaglobulinemia 12.0
35 reynolds syndrome 11.8
36 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.8
37 tempi syndrome 11.8
38 macular telangiectasia type 2 11.6
39 cutaneous collagenous vasculopathy 11.4
40 idiopathic macular telangiectasia type 3 11.4
41 rothmund-thomson syndrome 11.4
42 frenkel russe syndrome 11.3
43 ocular motor apraxia 11.3
44 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 11.2
45 cerebroretinal microangiopathy with calcifications and cysts 2 11.2
46 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
47 idiopathic macular telangiectasia type 1 11.1
48 vasculopathy, retinal, with cerebral leukodystrophy 10.9
49 cerebellar hypoplasia 10.9
50 cutis marmorata telangiectatica congenita 10.9

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:

27 (show top 50) (show all 60)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.76 ATM RASA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.76 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.76 ATM SMAD4 BMP6 TGFBR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.76 ACVRL1 BMPR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.76 ATM BMP6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.76 SOX18
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.76 ATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.76 ACVRL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.76 BMP6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.76 TGFBR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.76 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.76 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.76 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.76 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.76 ACVRL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.76 TGFBR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.76 SOX18
18 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.76 SOX18
19 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.76 SMAD4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.76 SOX18
21 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.76 ACVRL1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.76 BMP6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.76 SMAD4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.76 ATM BMP6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.76 ATM
26 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.76 BMPR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.76 SMAD4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.76 RASA1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.76 TGFBR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.76 TGFBR1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.76 ATM
32 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.76 SMAD4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.76 ACVRL1 SMAD4
34 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.76 SMAD4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.76 BMP6
36 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.76 BMPR2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.76 RASA1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.76 SMAD4
39 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.76 ACVRL1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.76 ATM BMPR2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.76 ACVRL1 SMAD4
42 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.76 SMAD4
43 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.76 BMP6 SOX18
44 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.76 SOX18
45 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.76 ATM
46 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.76 BMPR2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.76 ACVRL1 ATM RASA1 SMAD4
48 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.76 SOX18
49 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.76 ACVRL1 ATM TGFBR1 BMPR2 SOX18
50 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.76 TGFBR1

MGI Mouse Phenotypes related to Telangiectasis:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 ACVRL1 ATM BMPR2 ENG GDF2 NDP
2 behavior/neurological MP:0005386 10.1 ACVRL1 ATM BMPR2 ENG NDP SMAD4
3 growth/size/body region MP:0005378 10.1 ACVRL1 ATM BMP6 BMPR2 ENG RASA1
4 embryo MP:0005380 10.03 ACVRL1 ATM BMPR2 ENG RASA1 SMAD4
5 digestive/alimentary MP:0005381 10 ACVRL1 ENG RASA1 SMAD4 SOX18 TGFBR1
6 homeostasis/metabolism MP:0005376 9.97 ACVRL1 ATM BMPR2 ENG SMAD4 SOX18
7 immune system MP:0005387 9.92 ATM BMPR2 GDF2 RASA1 SMAD4 SOX18
8 nervous system MP:0003631 9.81 ACVRL1 ATM BMPR2 ENG NDP RASA1
9 muscle MP:0005369 9.8 ACVRL1 BMPR2 ENG RASA1 SMAD4 TGFBR1
10 normal MP:0002873 9.5 ACVRL1 BMPR2 ENG SMAD4 SOX18 TGFBR1
11 skeleton MP:0005390 9.23 BMP6 BMPR2 GDF2 NDP RASA1 SMAD4
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 284)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mecasermin Approved, Investigational Phase 4 68562-41-4
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
6
Polidocanol Approved Phase 4 9002-92-0
7
Metformin Approved Phase 4 657-24-9 14219 4091
8
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
9
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
10
Amantadine Approved Phase 4 768-94-5 2130
11
Chlorhexidine Approved, Vet_approved Phase 4,Not Applicable 55-56-1 2713 9552079
12
Clobetasol Approved, Experimental, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 25122-46-7, 25122-41-2 5311051 32798
13
Tacrolimus Approved, Investigational Phase 4,Phase 2 104987-11-3 6473866 445643 439492
14
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 17753757 6447131
15
Azelaic acid Approved Phase 4,Phase 3,Phase 2 123-99-9 2266
16
Ephedrine Approved Phase 4 299-42-3 9294
17
Phenylephrine Approved Phase 4 59-42-7 6041
18
Pseudoephedrine Approved Phase 4 90-82-4 7028
19
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
20
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
21
Betamethasone Approved, Vet_approved Phase 4,Phase 1,Not Applicable 378-44-9 9782
22
Aminolevulinic acid Approved Phase 4,Phase 3,Phase 2 106-60-5 137
23
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
24
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
25
Calcitriol Approved, Nutraceutical Phase 4,Phase 3,Phase 1 32222-06-3 5280453 134070
26
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 1 7440-70-2 271
27
Tretinoin Approved, Investigational, Nutraceutical Phase 4,Phase 3 302-79-4 444795 5538
28 Adrenergic Agonists Phase 4,Phase 1,Phase 2
29 Estradiol 3-benzoate Phase 4
30 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2
32 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Mitogens Phase 4,Phase 3,Phase 2,Phase 1
36 Contraceptive Agents Phase 4
37 Estradiol 17 beta-cypionate Phase 4
38 Sympatholytics Phase 4,Phase 3
39 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
40 Insulin, Globin Zinc Phase 4
41 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
42 Autonomic Agents Phase 4,Phase 3,Not Applicable
43 arginine Phase 4
44 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 insulin Phase 4
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Estrogens Phase 4,Phase 2
48 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 1,Phase 2
49 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 250)
# Name Status NCT ID Phase Drugs
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Polidocanol Versus Glucose Treatment of Telangiectasia Trial Completed NCT02657252 Phase 4 Glucose;Polidocanol with Glucose
3 Trial of Endoscopy Bipolar and Argon of Chronic Rectal Bleeding From Radiation Telangiectasias Completed NCT00725244 Phase 4
4 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
5 Topical Brimonidine to Reduce Inflammation After IPL-treatment in Patients With Facial Telangiectasias Completed NCT02761174 Phase 4 Brimonidine
6 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
7 Treatment of Lower Extremity Spider Veins With Excel V Completed NCT01362192 Phase 4
8 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
9 Bilateral Comparison Study of Elidel 1% and Hylatopic Plus Emollient Foam for the Treatment of Subjects With Atopic Dermatitis Completed NCT01202149 Phase 4
10 A Multicenter Trial of a Topical Medication for Papulopustular Rosacea Applied Twice Daily Versus Once Daily Completed NCT00417937 Phase 4 azelaic acid 15% gel;azelaic acid 15% gel
11 Safety and Tolerability of Oxymetazoline and Energy-Based Therapy in Participants With Rosacea Completed NCT03380390 Phase 4 Oxymetazoline HCL 1.0% Cream
12 Comparison of Topical Latanoprost vs Topical Corticosteroid in Treatment of Localized Alopecia Areata Completed NCT02350023 Phase 4 Topical latanoprost 0.005%;Topical betamethasone 0.05%
13 Safety and Efficacy of Pimecrolimus Cream 1% in Mild to Moderate Head and Neck Atopic Dermatitis (AD) Patients Completed NCT00121316 Phase 4 Pimecrolimus;Placebo
14 Efficacy/Safety/Subject Satisfaction/Duration of Response of Clobetasol Propionate Spray vs Ointment in Plaque Psoriasis Completed NCT00733954 Phase 4 clobetasol propionate spray;clobetasol propionate ointment
15 Evaluate Safety/Efficacy of Two Treatment Regimens for Vecticalâ„¢ Ointment & Clobex® Spray for Moderate Plaque Psoriasis Completed NCT00988637 Phase 4 Vecticalâ„¢ Ointment weekdays and Clobex® Spray weekends regimen;Clobex® Spray morning and Vecticalâ„¢ Ointment evening regimen
16 Photodynamic Therapy for Papulopustular Rosacea Recruiting NCT02075671 Phase 4 Aminolevulinic acid topical solution 20%
17 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
18 Treatment of Photodamaged Skin of the décolleté Recruiting NCT03573076 Phase 4
19 Study of Foam Sclerotherapy Versus Ambulatory Phlebectomy Recruiting NCT03416413 Phase 4 Foam sclerotherapy
20 Treatment w/ Tri-Luma® Cream & Intense Pulsed Light (IPL) vs a Mild Inactive Control Cream & Intense Pulsed Light (IPL) in Melasma Terminated NCT00669071 Phase 4 Fluocinolone acetonide 0.01%, hydroquinone 4%, tretinoin 0.05%;Cetaphil® Moisturizing Cream as Inactive Control
21 Effect of Avastin in Juxtafoveal Telangiectasias Unknown status NCT00406380 Phase 3 Bevacizumab
22 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT Unknown status NCT02963129 Phase 3 Mupirocin
23 Efficacy and Safety of 0.25% Desoximetasone Cream (Topoxy®) in the Treatment of Scalp Psoriasis Unknown status NCT02749656 Phase 3 0.25% Desoximetasone cream (Topoxy®);0.25% Desoximetasone cream (Topicorte®);Placebo
24 Long Term Results of the Canadian Breast IMRT Study Unknown status NCT01803139 Phase 3
25 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3 Intravitreal Injection of Bevacizumab (1.25 mg/0.05ml)
26 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
27 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
28 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
29 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Completed NCT00355108 Phase 3 tranexamic acid
30 Comparison of the Cosmetic Outcome of Hypofractionated Versus Normofractionated IMRT in Treatment of Breast Cancer Completed NCT01403779 Phase 3
31 Trial of Methyl Aminolevulinate Plus Aktilite in Facial Photodamage Completed NCT00629317 Phase 3 Methyl Aminolevulinate
32 Study of the Safety and Efficacy of OmegaD Softgels in the Treatment of Dry Eye Disease Completed NCT02980224 Phase 3 OmegaD;Placebo
33 Safety and Efficacy of Azelaic Acid Foam, 15 % in Papulopustular Rosacea Completed NCT01555463 Phase 3 Azelaic acid foam, 15% (BAY39-6251);Vehicle foam
34 Adapalene Gel 0.3% Versus Tretinoin 0.05% Emollient Cream for Treatment of Photodamage Completed NCT00647556 Phase 3 adapalene gel, 0.3%;tretinoin 0.05% emollient cream
35 Safety & Effectiveness of Clobex Spray, Followed by Calcitriol Ointment in Management of Plaque Psoriasis Completed NCT00658788 Phase 3 clobetasol propionate spray 0.05%;calcitriol ointment
36 Isotretinoin in Papular-Pustular Rosacea Completed NCT00882531 Phase 3 isotretinoin;placebo
37 A Study to Evaluate the Safety and Efficacy of CB-03-01 Cream, 1% in Subjects With Facial Acne Vulgaris (26) Completed NCT02608476 Phase 3 CB-03-01 cream, 1%;Vehicle cream
38 A Study to Evaluate the Safety and Efficacy of CB-03-01 Cream, 1% in Subjects With Facial Acne Vulgaris (25) Completed NCT02608450 Phase 3 CB-03-01 cream, 1%;Vehicle cream
39 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03319849 Phase 3
40 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03316300 Phase 3
41 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). Recruiting NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
42 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
43 EDS in Ataxia Telangiectasia Patients 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
44 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Recruiting NCT03518398 Phase 3
45 Nadolol Versus Propranolol in Children With Infantile Hemangiomas Recruiting NCT02505971 Phase 3 Nadolol;Propranolol
46 Study on Olaparib Plus Abiraterone as First-line Therapy in Men With Metastatic Castration-resistant Prostate Cancer Recruiting NCT03732820 Phase 3 olaparib;abiraterone acetate
47 Comparative Multicenter Randomized Study of Aflibercept Versus Placebo in Macular Telangiectasia Type 1 Not yet recruiting NCT03845049 Phase 3 Aflibercept Injection [Eylea];SHAM injection
48 Pazopanib Effects on Bleeding in Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT03850964 Phase 2, Phase 3 Pazopanib;Placebo oral capsule
49 Interest of Intravitreal Injections of Anti-VEGF as Initial and Adjuvant Treatment in Coats Disease Not yet recruiting NCT03940690 Phase 3 Anti-VEGF injections of bevacizumab
50 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo

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 30
Sources

Anatomical Context for Telangiectasis

About this section

MalaCards organs/tissues related to Telangiectasis:

42
Skin, Brain, T Cells, B Cells, Testes, Eye, Endothelial
Sources

Publications for Telangiectasis

About this section

Articles related to Telangiectasis:

(show top 50) (show all 3196)
# Title Authors Year
1
Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm. ( 30210120 )
2019
2
A Pial Arteriovenous Fistula in Infancy as the Presenting Manifestation of Hereditary Hemorrhagic Telangiectasia. ( 30391600 )
2019
3
Pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia. ( 30739085 )
2019
4
Angiopoietin-2 Inhibition Rescues Arteriovenous Malformation in a Smad4 Hereditary Hemorrhagic Telangiectasia Mouse Model. ( 30744395 )
2019
5
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. ( 30301590 )
2019
6
The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia. ( 30338439 )
2019
7
Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations. ( 30339652 )
2019
8
The Ataxia telangiectasia-mutated and Rad3-related protein kinase regulates cellular hydrogen sulfide concentrations. ( 30470507 )
2019
9
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia. ( 30504431 )
2019
10
GSE4 peptide suppresses oxidative and telomere deficiencies in ataxia telangiectasia patient cells. ( 30670828 )
2019
11
DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients. ( 30679601 )
2019
12
Ataxia-telangiectasia: A review of clinical features and molecular pathology. ( 30685876 )
2019
13
Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model. ( 30745336 )
2019
14
Clinicopathological significance of ataxia telangiectasia-mutated (ATM) kinase and ataxia telangiectasia-mutated and Rad3-related (ATR) kinase in MYC overexpressed breast cancers. ( 30746633 )
2019
15
ATM mutation spectrum in Russian children with ataxia-telangiectasia. ( 30772474 )
2019
16
Increased susceptibility of airway epithelial cells from ataxia-telangiectasia to S. pneumoniae infection due to oxidative damage and impaired innate immunity. ( 30796268 )
2019
17
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations. ( 30819809 )
2019
18
Arecoline-regulated ataxia telangiectasia mutated expression level in oral cancer progression. ( 30821076 )
2019
19
"Optimization of potent and selective Ataxia Telangiectasia Mutated (ATM) inhibitors suitable for a proof-of-concept study in Huntington's disease models". ( 30840447 )
2019
20
Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome. ( 30854690 )
2019
21
NMR- and MD simulation-based structural characterization of the membrane-associating FATC domain of ataxia telangiectasia mutated. ( 30867195 )
2019
22
Ataxia-Telangiectasia Mutated is located in cardiac mitochondria and impacts oxidative phosphorylation. ( 30886180 )
2019
23
Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation. ( 30888062 )
2019
24
Bladder Artery Embolization for Massive Hematuria Treatment in a Patient With Ataxia-Telangiectasia Acute Lymphoblastic Leukemia. ( 30933018 )
2019
25
Inhibition of Ataxia-Telangiectasia Mutated and RAD3-related (ATR) overcomes oxaliplatin resistance and promotes anti-tumor immunity in colorectal cancer. ( 30987998 )
2019
26
Ataxia telangiectasia and Rad3-related inhibitors and cancer therapy: where we stand. ( 31018854 )
2019
27
Three new cases of Ataxia-Telangiectasia-Like Disorder: no impairment of the ATM pathway, but S-phase checkpoint defect. ( 31033087 )
2019
28
Functional classification of ATM variants in Ataxia-Telangiectasia patients. ( 31050087 )
2019
29
Rational design of 5-(4-(isopropylsulfonyl)phenyl)-3-(3-(4-((methylamino)methyl)phenyl)isoxazol-5-yl)pyrazin-2-amine (VX-970, M6620): Optimization of intra- and inter-molecular polar interactions of a new ataxia telangiectasia mutated and Rad3-related (ATR) kinase inhibitor. ( 31074988 )
2019
30
Interleukin 6-triggered ataxia-telangiectasia mutated kinase activation facilitates epithelial-to-mesenchymal transition in lung cancer by upregulating vimentin expression. ( 31100307 )
2019
31
Activation of NRF2 by dexamethasone in ataxia telangiectasia cells involves KEAP1 inhibition but not the inhibition of p38. ( 31107893 )
2019
32
Cutaneous collagenous vasculopathy: Differential diagnosis of primary telangiectasia as generalized essential telangiectasia, hereditary hemorrhagic telangiectasia, and hereditary benign telangiectasia. ( 30355073 )
2019
33
Lactulose to the Rescue: A Case of Toxic Hepatic Encephalopathy Caused by Portosystemic Shunting and Epistaxis in a Patient with Hereditary Hemorrhagic Telangiectasia. ( 31032126 )
2019
34
Pazopanib may reduce bleeding in hereditary hemorrhagic telangiectasia. ( 30191360 )
2019
35
Medical Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Meta-analysis. ( 30200816 )
2019
36
Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. ( 30260738 )
2019
37
Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis. ( 30329172 )
2019
38
Low serum haptoglobin and blood films suggest intravascular hemolysis contributes to severe anemia in hereditary hemorrhagic telangiectasia. ( 30337360 )
2019
39
Links Between Strokes and Hereditary Hemorrhagic Telangiectasia: A Population-Based Study. ( 30520389 )
2019
40
The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia. ( 30685840 )
2019
41
Bevacizumab as Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Literature Review. ( 30693788 )
2019
42
Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia. ( 30701124 )
2019
43
Hospitalizations with hereditary hemorrhagic telangiectasia and pulmonary hypertension in the United States from 2000 to 2014. ( 30704695 )
2019
44
Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination. ( 30705116 )
2019
45
Diagnostic yield of capsule endoscopy for small bowel arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis. ( 30705963 )
2019
46
Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. ( 30717761 )
2019
47
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia. ( 30728427 )
2019
48
Nasal self-packing for epistaxis in Hereditary Hemorrhagic Telangiectasia increases quality of life. ( 30739126 )
2019
49
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? ( 30760892 )
2019
50
Characterization of a mutation in the zona pellucida module of Endoglin that causes hereditary hemorrhagic telangiectasia. ( 30763665 )
2019
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
ERK Signaling 65
Show member pathways
 13.17 ACVRL1 ATM BMP6 BMPR2 ELN GDF2
2
PAK Pathway 65
Show member pathways
 13.1 ACVRL1 BMP6 BMPR2 GDF2 SMAD4 TGFBR1
3
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.09 ATM BMP6 GDF2 TGFBR1
4
Wnt / Hedgehog / Notch 4
12.03 BMP6 BMPR2 ENG SMAD4 TGFBR1
5
Colorectal Cancer Metastasis 65
12.02 SMAD4 TGFBR1 VEGFA
6
Hippo signaling pathway 38
11.97 BMP6 BMPR2 SMAD4 TGFBR1
7
FoxO signaling pathway 38
Show member pathways
 11.92 ATM SMAD4 TGFBR1
8
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.91 BMP6 GDF2 SMAD4 TGFBR1
9
SMAD Signaling Network 65
11.8 ATM BMP6 SMAD4 TGFBR1 VEGFA
10
AGE-RAGE signaling pathway in diabetic complications 38
11.75 SMAD4 TGFBR1 VEGFA
11
Integrated Breast Cancer Pathway 1
11.74 ATM BMPR2 SMAD4 TGFBR1 VEGFA
12
TGF-beta Signaling Pathways 66
11.72 ACVRL1 ENG SMAD4 TGFBR1
13
TGF-beta signaling pathway (KEGG) 38
11.68 BMP6 BMPR2 SMAD4 TGFBR1
14
Signaling by BMP 67
Show member pathways
 11.58 BMP6 BMPR2 SMAD4
15
HIF-1-alpha transcription factor network 1
11.53 ENG SMAD4 VEGFA
16
IL-2 Gene Expression in Activated and Quiescent T-Cells 65
Show member pathways
 11.46 RASA1 SMAD4 TGFBR1
17
TGF-beta Receptor Signaling (WikiPathways) 1
11.46 ENG SMAD4 TGFBR1
18
Hepatitis C and Hepatocellular Carcinoma 1
11.39 SMAD4 TGFBR1 VEGFA
19
Transcription_P53 signaling pathway 23
11.39 ATM BMP6 SMAD4 TGFBR1 VEGFA
20
Heart Development 1
11.33 BMPR2 SMAD4 VEGFA
21
Extracellular vesicle-mediated signaling in recipient cells 1
11.11 SMAD4 TGFBR1
22
Glypican 1 network 1
11.05 TGFBR1 VEGFA
23
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
11.03 ENG SMAD4 TGFBR1
24
Cardiomyocyte Differentiation through BMP Receptors 65
10.97 BMPR2 SMAD4
25
Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex 1
10.96 ATM SMAD4
26
NTHi-Induced Signaling 65
10.93 SMAD4 TGFBR1
27
ALK2 signaling events 1
10.61 BMPR2 SMAD4
28
ALK1 signaling events 1
Show member pathways
 10.45 ACVRL1 BMPR2 GDF2 SMAD4 TGFBR1
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 receptor complex GO:0043235 9.26 ACVRL1 BMPR2 ENG TGFBR1
2 activin receptor complex GO:0048179 9.16 ACVRL1 TGFBR1
3 cell surface GO:0009986 9.1 ACVRL1 BMPR2 ENG NDP TGFBR1 VEGFA

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

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.95 ACVRL1 ATM SMAD4 VEGFA
2 positive regulation of angiogenesis GO:0045766 9.93 ACVRL1 ENG GDF2 VEGFA
3 in utero embryonic development GO:0001701 9.93 ACVRL1 SMAD4 SOX18 TGFBR1 VEGFA
4 angiogenesis GO:0001525 9.93 ACVRL1 ENG GDF2 SOX18 TGFBR1 VEGFA
5 negative regulation of cell growth GO:0030308 9.91 ACVRL1 BMPR2 GDF2 SMAD4
6 kidney development GO:0001822 9.89 BMP6 SMAD4 TGFBR1 VEGFA
7 anterior/posterior pattern specification GO:0009952 9.88 BMPR2 SMAD4 TGFBR1
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.88 ACVRL1 BMPR2 SMAD4 TGFBR1
9 pattern specification process GO:0007389 9.85 ACVRL1 BMPR2 TGFBR1
10 positive regulation of osteoblast differentiation GO:0045669 9.85 BMP6 BMPR2 GDF2
11 cellular iron ion homeostasis GO:0006879 9.84 BMP6 GDF2 SMAD4
12 SMAD protein signal transduction GO:0060395 9.84 BMP6 GDF2 SMAD4
13 ventricular septum morphogenesis GO:0060412 9.81 BMPR2 SMAD4 TGFBR1
14 negative regulation of endothelial cell proliferation GO:0001937 9.81 ACVRL1 GDF2 TGFBR1
15 blood vessel morphogenesis GO:0048514 9.8 ACVRL1 GDF2 RASA1
16 outflow tract morphogenesis GO:0003151 9.8 BMPR2 ELN SOX18 VEGFA
17 branching involved in blood vessel morphogenesis GO:0001569 9.79 ENG GDF2 VEGFA
18 outflow tract septum morphogenesis GO:0003148 9.79 BMPR2 ENG SMAD4
19 vasculogenesis GO:0001570 9.77 ENG GDF2 RASA1 SOX18 VEGFA
20 artery morphogenesis GO:0048844 9.76 ENG TGFBR1 VEGFA
21 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.74 ACVRL1 BMPR2 TGFBR1
22 sprouting angiogenesis GO:0002040 9.73 ENG VEGFA
23 positive regulation of endothelial cell differentiation GO:0045603 9.73 ACVRL1 BMP6 GDF2
24 neuron fate commitment GO:0048663 9.72 SMAD4 TGFBR1
25 regulation of actin filament polymerization GO:0030833 9.72 ELN RASA1
26 negative regulation of endothelial cell migration GO:0010596 9.72 ACVRL1 GDF2
27 positive regulation of chondrocyte differentiation GO:0032332 9.72 ACVRL1 BMP6
28 negative regulation of DNA biosynthetic process GO:2000279 9.72 ACVRL1 BMPR2 GDF2
29 cellular response to BMP stimulus GO:0071773 9.72 ACVRL1 BMP6 BMPR2 GDF2 SMAD4
30 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.71 ENG SMAD4
31 endocardial cushion morphogenesis GO:0003203 9.71 ACVRL1 ENG
32 positive regulation of cartilage development GO:0061036 9.71 BMPR2 GDF2
33 ventricular trabecula myocardium morphogenesis GO:0003222 9.71 ENG TGFBR1
34 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 GDF2 TGFBR1
35 activin receptor signaling pathway GO:0032924 9.71 ACVRL1 BMPR2 GDF2 TGFBR1
36 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.7 ENG SMAD4
37 response to transforming growth factor beta GO:0071559 9.7 ENG SMAD4
38 endothelial cell activation GO:0042118 9.7 SMAD4 TGFBR1
39 lymphangiogenesis GO:0001946 9.7 ACVRL1 BMPR2 SOX18
40 positive regulation of cellular component movement GO:0051272 9.69 TGFBR1 VEGFA
41 coronary artery morphogenesis GO:0060982 9.69 TGFBR1 VEGFA
42 artery development GO:0060840 9.69 ACVRL1 BMPR2
43 positive regulation of SMAD protein signal transduction GO:0060391 9.69 BMP6 SMAD4 TGFBR1
44 dorsal aorta morphogenesis GO:0035912 9.68 ACVRL1 ENG
45 retina vasculature development in camera-type eye GO:0061298 9.68 ACVRL1 BMPR2
46 endocardial cell differentiation GO:0060956 9.68 SMAD4 SOX18
47 positive regulation of axon extension involved in axon guidance GO:0048842 9.68 BMPR2 VEGFA
48 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.66 ENG TGFBR1
49 venous blood vessel development GO:0060841 9.65 ACVRL1 BMPR2
50 lymphatic endothelial cell differentiation GO:0060836 9.65 ACVRL1 BMPR2 SOX18

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.85 BMP6 SMAD4 SOX18 VEGFA
2 protein serine/threonine kinase activity GO:0004674 9.84 ACVRL1 ATM BMPR2 TGFBR1
3 cytokine activity GO:0005125 9.73 BMP6 GDF2 NDP VEGFA
4 growth factor activity GO:0008083 9.62 BMP6 GDF2 NDP VEGFA
5 SMAD binding GO:0046332 9.58 ACVRL1 BMPR2 TGFBR1
6 extracellular matrix binding GO:0050840 9.56 ELN VEGFA
7 growth factor binding GO:0019838 9.54 ACVRL1 BMPR2 TGFBR1
8 I-SMAD binding GO:0070411 9.52 SMAD4 TGFBR1
9 BMP binding GO:0036122 9.51 BMPR2 ENG
10 BMP receptor activity GO:0098821 9.49 ACVRL1 BMPR2
11 transforming growth factor beta receptor activity, type I GO:0005025 9.48 ACVRL1 TGFBR1
12 type II transforming growth factor beta receptor binding GO:0005114 9.46 ENG TGFBR1
13 transforming growth factor beta binding GO:0050431 9.43 ACVRL1 ENG TGFBR1
14 transforming growth factor beta-activated receptor activity GO:0005024 9.33 ACVRL1 BMPR2 TGFBR1
15 activin binding GO:0048185 9.13 ACVRL1 ENG TGFBR1
16 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.8 ACVRL1 BMPR2 TGFBR1
Sources

Sources for Telangiectasis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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