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MCID: TLN003
MIFTS: 54

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 73
Telangiectasia 12 76 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 73 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 weber 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 Estradiol and Mecasermin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and breast, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Telangiectasias, also known as spider veins, are small dilated blood vessels near the surface of 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 465)
# Related Disease Score Top Affiliating Genes
1 retinal telangiectasia 33.3 NDP VEGFA
2 weber syndrome 30.4 ACVRL1 ENG
3 pulmonary hypertension 30.3 ACVRL1 BMPR2 ENG SMAD4
4 pulmonary hypertension, primary, 1 30.2 ACVRL1 BMP6 BMPR2 ENG
5 pulmonary arteriovenous malformation 30.1 ACVRL1 ENG
6 hereditary hemorrhagic telangiectasia 29.9 ACVRL1 ENG GDF2 SMAD4
7 angiodysplasia 29.9 ACVRL1 ENG VEGFA
8 arteriovenous malformations of the brain 29.8 ACVRL1 ENG VEGFA
9 arteriovenous malformation 29.6 ACVRL1 BMPR2 ENG VEGFA
10 hepatopulmonary syndrome 29.5 ACVRL1 BMPR2 VEGFA
11 arteries, anomalies of 29.3 ACVRL1 BMPR2 VEGFA
12 vascular disease 29.3 ACVRL1 BMP6 BMPR2 ENG VEGFA
13 peliosis hepatis 29.0 AFP VEGFA
14 hypotrichosis-lymphedema-telangiectasia syndrome 12.5
15 ataxia-telangiectasia-like disorder 1 12.5
16 telangiectasia, hereditary hemorrhagic, type 1 12.5
17 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.5
18 telangiectasia, hereditary hemorrhagic, type 2 12.4
19 telangiectasia macularis eruptive perstans 12.4
20 ataxia-telangiectasia-like disorder 2 12.3
21 telangiectasia macularis eruptiva perstans 12.3
22 telangiectasia, hereditary hemorrhagic, type 4 12.3
23 cutaneous telangiectasia and cancer syndrome, familial 12.3
24 telangiectasia, hereditary hemorrhagic, type 5 12.3
25 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.3
26 epilepsy-telangiectasia 12.2
27 telangiectasia, hereditary benign 12.2
28 nijmegen breakage syndrome 12.1
29 telangiectasia, hereditary hemorrhagic, type 3 12.1
30 ataxia-telangiectasia with generalized skin pigmentation and early death 12.0
31 coats disease 12.0
32 retinal telangiectasia and hypogammaglobulinemia 12.0
33 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.7
34 tempi syndrome 11.7
35 macular telangiectasia type 2 11.6
36 cutaneous collagenous vasculopathy 11.4
37 idiopathic macular telangiectasia type 3 11.4
38 rothmund-thomson syndrome 11.4
39 frenkel russe syndrome 11.3
40 ocular motor apraxia 11.2
41 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 11.2
42 cerebroretinal microangiopathy with calcifications and cysts 2 11.1
43 reynolds syndrome 11.1
44 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
45 idiopathic macular telangiectasia type 1 11.0
46 prolidase deficiency 10.9
47 vasculopathy, retinal, with cerebral leukodystrophy 10.9
48 arterial tortuosity syndrome 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:

26 (show top 50) (show all 58)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.69 ATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.69 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.69 ATM BMP6 SMAD4 TGFBR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.69 ACVRL1 BMPR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.69 AFP ATM BMP6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.69 SOX18
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.69 AFP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.69 ATM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.69 ACVRL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.69 BMP6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.69 TGFBR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.69 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.69 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.69 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.69 ATM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.69 ACVRL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.69 TGFBR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.69 SOX18
19 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.69 SOX18
20 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.69 AFP
21 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.69 SMAD4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.69 SOX18
23 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.69 ACVRL1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.69 BMP6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.69 SMAD4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.69 ATM BMP6
27 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.69 ATM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.69 BMPR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.69 SMAD4
30 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.69 AFP
31 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.69 TGFBR1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.69 TGFBR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.69 ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.69 SMAD4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.69 SMAD4 ACVRL1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.69 SMAD4
37 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.69 BMP6
38 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.69 BMPR2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.69 SMAD4
40 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.69 AFP ACVRL1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.69 SMAD4 ACVRL1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.69 SMAD4
43 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.69 BMP6 SOX18
44 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.69 SOX18
45 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.69 ATM
46 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.69 BMPR2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.69 ATM SMAD4 ACVRL1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.69 SOX18
49 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.69 ATM TGFBR1 ACVRL1 BMPR2 SOX18
50 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.69 TGFBR1

MGI Mouse Phenotypes related to Telangiectasis:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 ACVRL1 ATM BMPR2 ENG GDF2 NDP
2 homeostasis/metabolism MP:0005376 10.22 ACVRL1 AFP ATM BMPR2 ENG GDF2
3 behavior/neurological MP:0005386 10.21 ACVRL1 AFP ATM BMPR2 ENG NDP
4 growth/size/body region MP:0005378 10.16 ACVRL1 ATM BMP6 BMPR2 ENG SMAD4
5 hematopoietic system MP:0005397 10.1 ACVRL1 ATM BMPR2 ENG SMAD4 TGFBR1
6 mortality/aging MP:0010768 10.1 ACVRL1 AFP ATM BMPR2 ENG SMAD4
7 embryo MP:0005380 10.07 ACVRL1 ATM BMPR2 ENG SMAD4 TGFBR1
8 immune system MP:0005387 10.06 ATM BMPR2 GDF2 SMAD4 SOX18 TGFBR1
9 digestive/alimentary MP:0005381 10.01 ACVRL1 ENG SMAD4 SOX18 TGFBR1 VEGFA
10 integument MP:0010771 9.98 ATM ENG SMAD4 SOX18 TGFBR1 TRIM21
11 nervous system MP:0003631 9.86 ACVRL1 ATM BMPR2 ENG NDP SMAD4
12 muscle MP:0005369 9.85 ACVRL1 BMPR2 ENG SMAD4 TGFBR1 VEGFA
13 neoplasm MP:0002006 9.72 AFP ATM SMAD4 TGFBR1 VEGFA
14 normal MP:0002873 9.7 ACVRL1 BMPR2 ENG SMAD4 SOX18 TGFBR1
15 reproductive system MP:0005389 9.5 AFP ATM BMP6 GDF2 NDP SMAD4
16 skeleton MP:0005390 9.17 BMP6 BMPR2 GDF2 NDP SMAD4 TGFBR1
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 261)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Mecasermin Approved, Investigational Phase 4 68562-41-4
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
5
Clonidine Approved Phase 4 4205-90-7 2803
6
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
7
Polidocanol Approved Phase 4 9002-92-0
8
Metformin Approved Phase 4 657-24-9 14219 4091
9
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
10
Amantadine Approved Phase 4 768-94-5 2130
11
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
12
Chlorhexidine Approved, Vet_approved Phase 4,Not Applicable 55-56-1 2713 9552079
13
Clobetasol Approved, Experimental, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 25122-46-7, 25122-41-2 5311051 32798
14
Tacrolimus Approved, Investigational Phase 4,Phase 2 104987-11-3 445643 439492
15
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 6447131 17753757
16
Azelaic acid Approved Phase 4,Phase 3,Phase 2 123-99-9 2266
17
Pseudoephedrine Approved Phase 4 90-82-4 7028
18
Phenylephrine Approved Phase 4 59-42-7 6041
19
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
20
Ephedrine Approved Phase 4 299-42-3 9294
21
Betamethasone Approved, Vet_approved Phase 4,Phase 1 378-44-9 9782
22
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
23
Aminolevulinic acid Approved Phase 4,Phase 3,Phase 2 106-60-5 137
24
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
25
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
26
Calcitriol Approved, Nutraceutical Phase 4,Phase 3,Phase 1 32222-06-3 5280453 134070
27
Tretinoin Approved, Investigational, Nutraceutical Phase 4,Phase 3 302-79-4 5538 444795
28 Estradiol 17 beta-cypionate Phase 4
29 arginine Phase 4
30 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2
31 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Estrogens Phase 4,Phase 2
33 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
34 Estradiol 3-benzoate Phase 4
35 insulin Phase 4
36 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 1,Phase 2
37 Sympatholytics Phase 4,Phase 3
38 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Autonomic Agents Phase 4,Phase 3,Not Applicable
42 Insulin, Globin Zinc Phase 4
43 Adrenergic Agonists Phase 4,Phase 1,Phase 2
44 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
45 Mitogens Phase 4,Phase 2,Phase 1
46 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Contraceptive Agents Phase 4
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 229)
# 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 Long Term Results of the Canadian Breast IMRT Study Unknown status NCT01803139 Phase 3
24 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3 Intravitreal Injection of Bevacizumab (1.25 mg/0.05ml)
25 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
26 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
27 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
28 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Completed NCT00355108 Phase 3 tranexamic acid
29 Comparison of the Cosmetic Outcome of Hypofractionated Versus Normofractionated IMRT in Treatment of Breast Cancer Completed NCT01403779 Phase 3
30 Trial of Methyl Aminolevulinate Plus Aktilite in Facial Photodamage Completed NCT00629317 Phase 3 Methyl Aminolevulinate
31 Study of the Safety and Efficacy of OmegaD Softgels in the Treatment of Dry Eye Disease Completed NCT02980224 Phase 3 OmegaD;Placebo
32 Safety and Efficacy of Azelaic Acid Foam, 15 % in Papulopustular Rosacea Completed NCT01555463 Phase 3 Azelaic acid foam, 15% (BAY39-6251);Vehicle foam
33 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
34 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
35 Isotretinoin in Papular-Pustular Rosacea Completed NCT00882531 Phase 3 isotretinoin;placebo
36 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03319849 Phase 3
37 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03316300 Phase 3
38 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%
39 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
40 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
41 Efficacy and Safety of 0.25% Desoximetasone Cream (Topoxy®) in the Treatment of Scalp Psoriasis Recruiting NCT02749656 Phase 3 0.25% Desoximetasone cream (Topoxy®);0.25% Desoximetasone cream (Topicorte®);Placebo
42 Nadolol Versus Propranolol in Children With Infantile Hemangiomas Recruiting NCT02505971 Phase 3 Nadolol;Propranolol
43 A Study to Evaluate the Safety and Efficacy of CB-03-01 Cream, 1% in Subjects With Facial Acne Vulgaris (26) Recruiting NCT02608476 Phase 3 CB-03-01 cream, 1%;Vehicle cream
44 A Study to Evaluate the Safety and Efficacy of CB-03-01 Cream, 1% in Subjects With Facial Acne Vulgaris (25) Recruiting NCT02608450 Phase 3 CB-03-01 cream, 1%;Vehicle cream
45 Study on Olaparib Plus Abiraterone as First-line Therapy in Men With Metastatic Castration-resistant Prostate Cancer Recruiting NCT03732820 Phase 3 olaparib;abiraterone acetate
46 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Not yet recruiting NCT03518398 Phase 3
47 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
48 Atralin Gel for the Treatment of Rosacea Terminated NCT01125930 Phase 3 vehicle gel;Atralin gel
49 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
50 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2 Submucosal Bevacizumab

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 29
Sources

Anatomical Context for Telangiectasis

About this section

MalaCards organs/tissues related to Telangiectasis:

41
Skin, Liver, Breast, Prostate, T Cells, Brain, Lung
Sources

Publications for Telangiectasis

About this section

Articles related to Telangiectasis:

(show top 50) (show all 650)
# Title Authors Year
1
Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. ( 30260738 )
2019
2
Predictive multi-imaging biomarkers relevant for visual acuity in idiopathic macular telangiectasis type 1. ( 29506510 )
2018
3
Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm. ( 30210120 )
2018
4
A pial arteriovenous fistula in infancy as the presenting manifestation of hereditary hemorrhagic telangiectasia. ( 30391600 )
2018
5
Severe pulmonary hypertension associated with hepatic arteriovenous malformation in a patient with hereditary haemorrhagic telangiectasia. ( 30232072 )
2018
6
Neurovisual Assessment in Children with Ataxia Telangiectasia. ( 28992644 )
2018
7
Ataxia Telangiectasia Mutated Protein Loss and Benefit From Oxaliplatin-based Chemotherapy in Colorectal Cancer. ( 30042009 )
2018
8
Retroperitoneal extramedullary hematopoietic pseudotumor in ataxia-telangiectasia. ( 30046399 )
2018
9
PATRIOT: A phase I study to assess the tolerability, safety and biological effects of a specific ataxia telangiectasia and Rad3-related (ATR) inhibitor (AZD6738) as a single agent and in combination with palliative radiation therapy in patients with solid tumours. ( 30073210 )
2018
10
Ataxia telangiectasia mutated deficiency does not result in genetic susceptibility to 50 Hz magnetic fields exposure in mouse embryonic fibroblasts. ( 30091795 )
2018
11
Secondary enuresis and urological manifestations in children with ataxia telangiectasia. ( 30100180 )
2018
12
Palbociclib enhances radiosensitivity of hepatocellular carcinoma and cholangiocarcinoma via inhibiting ataxia telangiectasia-mutated kinase-mediated DNA damage response. ( 30103095 )
2018
13
Ataxia-telangiectasia: A review of movement disorders, clinical features and genotype correlations - Addendum. ( 30230625 )
2018
14
Treatment of Granulomas in Patients With Ataxia Telangiectasia. ( 30279689 )
2018
15
A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia. ( 30279714 )
2018
16
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. ( 30301590 )
2018
17
The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia. ( 30338439 )
2018
18
Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations. ( 30339652 )
2018
19
Ataxia telangiectasia alters the ApoB and reelin pathway. ( 30343341 )
2018
20
Discovery and Characterization of AZD6738, a Potent Inhibitor of Ataxia Telangiectasia Mutated and Rad3 Related (ATR) Kinase with Application as an Anticancer Agent. ( 30346772 )
2018
21
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia. ( 30363071 )
2018
22
Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in ataxia telangiectasia cell lines. ( 30389153 )
2018
23
Ibuprofen prevents progression of ataxia telangiectasia symptoms in ATM-deficient mice. ( 30400801 )
2018
24
Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report. ( 30402232 )
2018
25
Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia. ( 30420857 )
2018
26
DNA damage and repair in individuals with ataxia-telangiectasia and their parents. ( 30442337 )
2018
27
Localization of the kinase Ataxia Telangiectasia Mutated to Adenovirus E4 mutant DNA replication centers is important for its inhibitory effect on viral DNA accumulation. ( 30453211 )
2018
28
Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with Ataxia-Telangiectasia Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism. ( 30454873 )
2018
29
The Ataxia telangiectasia-mutated and Rad3-related protein kinase regulates cellular hydrogen sulfide concentrations. ( 30470507 )
2018
30
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia. ( 30504431 )
2018
31
Reconstitution of the Ataxia-Telangiectasia Cellular Phenotype With Lentiviral Vectors. ( 30515174 )
2018
32
Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia. ( 30523550 )
2018
33
Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia. ( 30549301 )
2018
34
Cutaneous collagenous vasculopathy: Differential diagnosis of primary telangiectasia as generalized essential telangiectasia, hereditary hemorrhagic telangiectasia, and hereditary benign telangiectasia. ( 30355073 )
2018
35
Brimonidine for treatment of telangiectasia of dermatomyositis. ( 28960234 )
2018
36
Hyperammonemic encephalopathy associated with hereditary hemorrhagic telangiectasia. ( 30447907 )
2018
37
A case report of hepatopulmonary syndrome in hereditary hemorrhagic telangiectasia (HHT): Not all right-to-left shunting in HHT is due to pulmonary arteriovenous malformations. ( 30095617 )
2018
38
Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study. ( 28973426 )
2018
39
Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia. ( 29048420 )
2018
40
Coronary Angiography and Interventions in Patients With Hereditary Hemorrhagic Telangiectasia. ( 29133188 )
2018
41
Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia. ( 29460088 )
2018
42
Systematic screening in hereditary hemorrhagic telangiectasia: a review. ( 29470256 )
2018
43
Liver involvement in hereditary hemorrhagic telangiectasia. ( 29987403 )
2018
44
Characteristics and outcomes of venous thromboembolism in patients with hereditary hemorrhagic telangiectasia. ( 30015226 )
2018
45
The Impact of Small Bowel Endoscopy in Patients with Hereditary Hemorrhagic Telangiectasia ( 30040069 )
2018
46
Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: clinical aspects. ( 30057878 )
2018
47
The effects of nasal closure on quality of life in patients with hereditary hemorrhagic telangiectasia. ( 30062132 )
2018
48
A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. ( 30073140 )
2018
49
Clinical features and treatment of hereditary hemorrhagic telangiectasia. ( 30075565 )
2018
50
Soluble endoglin regulates expression of angiogenesis-related proteins and induction of arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia. ( 30108051 )
2018
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 64
Show member pathways
 13.6 ACVRL1 ATM BMP6 BMPR2 GDF2 SMAD4
2
PAK Pathway 64
Show member pathways
 13.11 ACVRL1 BMP6 BMPR2 GDF2 SMAD4 TGFBR1
3
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.1 ATM BMP6 GDF2 TGFBR1
4
Colorectal Cancer Metastasis 64
12.02 SMAD4 TGFBR1 VEGFA
5
FoxO signaling pathway 37
Show member pathways
 11.92 ATM SMAD4 TGFBR1
6
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.91 BMP6 GDF2 SMAD4 TGFBR1
7
SMAD Signaling Network 64
11.85 ATM BMP6 SMAD4 TGFBR1 VEGFA
8
Hippo signaling pathway 37
11.84 AFP BMP6 BMPR2 SMAD4 TGFBR1
9
AGE-RAGE signaling pathway in diabetic complications 37
11.76 SMAD4 TGFBR1 VEGFA
10
Integrated Breast Cancer Pathway 1
11.74 ATM BMPR2 SMAD4 TGFBR1 VEGFA
11
TGF-beta Signaling Pathways 65
11.72 ACVRL1 ENG SMAD4 TGFBR1
12
Wnt / Hedgehog / Notch 4
11.69 AFP BMP6 BMPR2 ENG SMAD4 TGFBR1
13
TGF-beta signaling pathway (KEGG) 37
11.63 BMP6 BMPR2 SMAD4 TGFBR1
14
Loss of Function of SMAD2/3 in Cancer 66
Show member pathways
 11.62 BMPR2 SMAD4 TGFBR1
15
Signaling by BMP 66
Show member pathways
 11.58 BMP6 BMPR2 SMAD4
16
HIF-1-alpha transcription factor network 1
11.53 ENG SMAD4 VEGFA
17
TGF-beta Receptor Signaling (WikiPathways) 1
11.46 ENG SMAD4 TGFBR1
18
Transcription_P53 signaling pathway 22
11.45 ATM BMP6 SMAD4 TGFBR1 VEGFA
19
Hepatitis C and Hepatocellular Carcinoma 1
11.39 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 64
10.97 BMPR2 SMAD4
25
Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex 1
10.96 ATM SMAD4
26
NTHi-Induced Signaling 64
10.93 SMAD4 TGFBR1
27
ALK2 signaling events 1
10.62 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 extracellular space GO:0005615 9.87 AFP BMP6 BMPR2 ENG GDF2 NDP
2 receptor complex GO:0043235 9.46 ACVRL1 BMPR2 ENG TGFBR1
3 activin receptor complex GO:0048179 9.26 ACVRL1 TGFBR1
4 cell surface GO:0009986 9.1 ACVRL1 BMPR2 ENG NDP TGFBR1 VEGFA
5 transforming growth factor beta receptor complex GO:0070022 8.96 ENG TGFBR1

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 9.94 ACVRL1 ATM SMAD4 VEGFA
2 in utero embryonic development GO:0001701 9.93 ACVRL1 SMAD4 SOX18 TGFBR1 VEGFA
3 positive regulation of angiogenesis GO:0045766 9.92 ACVRL1 ENG GDF2 VEGFA
4 negative regulation of cell growth GO:0030308 9.91 ACVRL1 BMPR2 GDF2 SMAD4
5 angiogenesis GO:0001525 9.91 ACVRL1 ENG GDF2 SOX18 TGFBR1 VEGFA
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 9.84 BMP6 BMPR2 GDF2
11 cellular iron ion homeostasis GO:0006879 9.84 BMP6 GDF2 SMAD4
12 outflow tract morphogenesis GO:0003151 9.83 BMPR2 SOX18 VEGFA
13 ventricular septum morphogenesis GO:0060412 9.81 BMPR2 SMAD4 TGFBR1
14 negative regulation of endothelial cell proliferation GO:0001937 9.8 ACVRL1 GDF2 TGFBR1
15 vasculogenesis GO:0001570 9.8 ENG GDF2 SOX18 VEGFA
16 branching involved in blood vessel morphogenesis GO:0001569 9.79 ENG GDF2 VEGFA
17 outflow tract septum morphogenesis GO:0003148 9.79 BMPR2 ENG SMAD4
18 SMAD protein signal transduction GO:0060395 9.78 AFP BMP6 GDF2 SMAD4
19 artery morphogenesis GO:0048844 9.76 ENG TGFBR1 VEGFA
20 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.74 ACVRL1 BMPR2 TGFBR1
21 blood vessel remodeling GO:0001974 9.73 ACVRL1 BMPR2
22 positive regulation of endothelial cell differentiation GO:0045603 9.73 ACVRL1 BMP6 GDF2
23 sprouting angiogenesis GO:0002040 9.72 ENG VEGFA
24 blood vessel morphogenesis GO:0048514 9.72 ACVRL1 GDF2
25 neuron fate commitment GO:0048663 9.72 SMAD4 TGFBR1
26 negative regulation of endothelial cell migration GO:0010596 9.72 ACVRL1 GDF2
27 negative regulation of DNA biosynthetic process GO:2000279 9.72 ACVRL1 BMPR2 GDF2
28 cellular response to BMP stimulus GO:0071773 9.72 ACVRL1 BMP6 BMPR2 GDF2 SMAD4
29 positive regulation of chondrocyte differentiation GO:0032332 9.71 ACVRL1 BMP6
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 9.7 GDF2 TGFBR1
35 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.7 ENG SMAD4
36 response to transforming growth factor beta GO:0071559 9.7 ENG SMAD4
37 lymphangiogenesis GO:0001946 9.7 ACVRL1 BMPR2 SOX18
38 endothelial cell activation GO:0042118 9.69 SMAD4 TGFBR1
39 positive regulation of cellular component movement GO:0051272 9.69 TGFBR1 VEGFA
40 coronary artery morphogenesis GO:0060982 9.69 TGFBR1 VEGFA
41 positive regulation of SMAD protein signal transduction GO:0060391 9.69 BMP6 SMAD4 TGFBR1
42 artery development GO:0060840 9.68 ACVRL1 BMPR2
43 dorsal aorta morphogenesis GO:0035912 9.68 ACVRL1 ENG
44 retina vasculature development in camera-type eye GO:0061298 9.68 ACVRL1 BMPR2
45 endocardial cell differentiation GO:0060956 9.68 SMAD4 SOX18
46 positive regulation of axon extension involved in axon guidance GO:0048842 9.67 BMPR2 VEGFA
47 activin receptor signaling pathway GO:0032924 9.67 ACVRL1 BMPR2 GDF2 TGFBR1
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 positive regulation of BMP signaling pathway GO:0030513 9.65 ACVRL1 BMPR2 ENG GDF2 SMAD4

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

(show all 15)
# 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 growth factor binding GO:0019838 9.54 ACVRL1 BMPR2 TGFBR1
7 I-SMAD binding GO:0070411 9.52 SMAD4 TGFBR1
8 BMP binding GO:0036122 9.51 BMPR2 ENG
9 BMP receptor activity GO:0098821 9.49 ACVRL1 BMPR2
10 transforming growth factor beta receptor activity, type I GO:0005025 9.48 ACVRL1 TGFBR1
11 type II transforming growth factor beta receptor binding GO:0005114 9.46 ENG TGFBR1
12 transforming growth factor beta binding GO:0050431 9.43 ACVRL1 ENG TGFBR1
13 transforming growth factor beta-activated receptor activity GO:0005024 9.33 ACVRL1 BMPR2 TGFBR1
14 activin binding GO:0048185 9.13 ACVRL1 ENG TGFBR1
15 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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