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MCID: TLN003
MIFTS: 51

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

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 pulmonary arteriovenous malformation and hereditary hemorrhagic 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 Estradiol have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, 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 84)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 30.5 ACVRL1 ENG
2 hereditary hemorrhagic telangiectasia 29.2 ACVRL1 ENG GDF2 SMAD4
3 arteriovenous malformation 27.6 ACVRL1 BMPR2 ENG RASA1 VEGFA
4 vascular disease 27.6 ACVRL1 BMP6 BMPR2 ENG VEGFA
5 coats disease 11.8
6 macular telangiectasia type 2 11.4
7 idiopathic macular telangiectasia type 3 11.2
8 reynolds syndrome 11.0
9 idiopathic macular telangiectasia type 1 10.9
10 telangiectasia, hereditary hemorrhagic, type 1 10.7 ACVRL1 ENG
11 retinitis 10.6
12 pulmonary venoocclusive disease 10.5 ACVRL1 BMPR2
13 urethra adenocarcinoma 10.5 ATM SMAD4
14 urethra clear cell adenocarcinoma 10.5 ATM SMAD4
15 urethral benign neoplasm 10.4 ATM SMAD4
16 chronic pulmonary heart disease 10.4 ACVRL1 BMPR2
17 pulmonary hypertension, primary, 1 10.3 ACVRL1 BMPR2 ENG
18 heritable pulmonary arterial hypertension 10.3 ACVRL1 BMPR2 ENG
19 eisenmenger syndrome 10.3 BMPR2 TGFBR1
20 weber syndrome 10.1 ACVRL1 ENG RASA1
21 macular retinal edema 10.0
22 retinal telangiectasia 10.0 NDP VEGFA
23 pulmonary arteriovenous fistulas 10.0
24 glomeruloid hemangioma 10.0 ENG VEGFA
25 arteriovenous fistula 9.9
26 crest syndrome 9.9
27 muscular dystrophy 9.9
28 pulmonary arterio-veinous fistula 9.9
29 facioscapulohumeral muscular dystrophy 1 9.9
30 microvascular complications of diabetes 5 9.9
31 cerebritis 9.9
32 fibrochondrogenesis 9.9 BMP6 ENG
33 scleroderma, familial progressive 9.8
34 hepatitis 9.8
35 choroiditis 9.8
36 aneurysm 9.8
37 angiodysplasia 9.7 ACVRL1 ENG VEGFA
38 angiokeratoma circumscriptum 9.7 RASA1 VEGFA
39 gastroschisis 9.7 AFP BMP6
40 macular dystrophy, dominant cystoid 9.6
41 scapuloperoneal myopathy, myh7-related 9.6
42 ataxia-telangiectasia 9.6
43 moyamoya disease 1 9.6
44 pseudoxanthoma elasticum 9.6
45 angioid streaks 9.6
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.6
47 ectodermal dysplasia 9.6
48 hemangioma 9.6
49 thrombosis 9.6
50 esophagitis 9.6

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 (show top 50) (show all 62)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.83 ATM RASA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.83 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.83 ATM BMP6 SMAD4 TGFBR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.83 ACVRL1 BMPR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.83 ATM AFP BMP6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.83 SOX18
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.83 AFP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.83 ATM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.83 ACVRL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.83 BMP6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.83 TGFBR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.83 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.83 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.83 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.83 ATM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.83 ACVRL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.83 TGFBR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.83 SOX18
19 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.83 SOX18
20 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.83 AFP
21 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.83 SMAD4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.83 SOX18
23 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.83 ACVRL1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.83 BMP6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.83 SMAD4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.83 ATM BMP6
27 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.83 ATM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.83 BMPR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.83 SMAD4
30 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.83 AFP
31 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.83 RASA1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.83 TGFBR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.83 TGFBR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.83 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.83 SMAD4
36 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.83 ACVRL1 SMAD4
37 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.83 SMAD4
38 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.83 BMP6
39 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.83 BMPR2
40 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.83 RASA1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.83 SMAD4
42 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.83 ACVRL1 AFP
43 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.83 ACVRL1 SMAD4
44 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.83 SMAD4
45 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.83 BMP6 SOX18
46 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.83 SOX18
47 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.83 ATM
48 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.83 BMPR2
49 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.83 ACVRL1 ATM SMAD4 RASA1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.83 SOX18

MGI Mouse Phenotypes related to Telangiectasis:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 ATM GDF2 NDP BMPR2 ACVRL1 ENG
2 behavior/neurological MP:0005386 10.19 ENG ATM BMPR2 ACVRL1 AFP SMAD4
3 growth/size/body region MP:0005378 10.18 ENG ATM BMP6 BMPR2 ACVRL1 SMAD4
4 homeostasis/metabolism MP:0005376 10.16 ENG ATM GDF2 BMPR2 ACVRL1 AFP
5 embryo MP:0005380 10.1 ENG ATM BMPR2 ACVRL1 SMAD4 VEGFA
6 mortality/aging MP:0010768 10.1 AFP ENG ATM BMPR2 ACVRL1 TGFBR1
7 digestive/alimentary MP:0005381 10.05 ENG ACVRL1 SMAD4 VEGFA SOX18 RASA1
8 immune system MP:0005387 10.03 ATM GDF2 BMPR2 TGFBR1 SMAD4 SOX18
9 muscle MP:0005369 9.91 ENG BMPR2 ACVRL1 SMAD4 VEGFA RASA1
10 nervous system MP:0003631 9.91 ENG ATM BMPR2 ACVRL1 TGFBR1 SMAD4
11 neoplasm MP:0002006 9.72 AFP ATM TGFBR1 SMAD4 VEGFA
12 normal MP:0002873 9.7 ENG BMPR2 ACVRL1 TGFBR1 SMAD4 SOX18
13 reproductive system MP:0005389 9.5 AFP ATM GDF2 BMP6 SMAD4 NDP
14 skeleton MP:0005390 9.23 GDF2 BMP6 NDP BMPR2 SMAD4 VEGFA
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 251)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
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
Amantadine Approved Phase 4 768-94-5 2130
10
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
11
Chlorhexidine Approved, Vet_approved Phase 4,Not Applicable 55-56-1 9552079 2713
12
Clobetasol Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 25122-46-7, 25122-41-2 32798 5311051
13
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 6447131 17753757
14
Tacrolimus Approved, Investigational Phase 4,Phase 2 104987-11-3 445643 439492
15
Azelaic acid Approved Phase 4,Phase 3,Phase 2 123-99-9 2266
16
Ephedrine Approved Phase 4,Phase 1,Phase 2 299-42-3 9294
17
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
18
Phenylephrine Approved Phase 4 59-42-7 6041
19
Pseudoephedrine Approved Phase 4,Phase 1,Phase 2 90-82-4 7028
20
Betamethasone Approved, Vet_approved Phase 4,Phase 1 378-44-9 9782
21
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
22
Aminolevulinic acid Approved Phase 4,Phase 3,Phase 2 106-60-5 137
23
Menthol Approved Phase 4 2216-51-5 16666
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 134070 5280453
27
Tretinoin Approved, Investigational, Nutraceutical Phase 4,Phase 3 302-79-4 5538 444795
28 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Adrenergic Agonists Phase 4,Phase 1,Phase 2
30 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 1,Phase 2
31 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2
32 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
33 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
35 Contraceptive Agents Phase 4
36 Estradiol 17 beta-cypionate Phase 4
37 Estradiol 3-benzoate Phase 4
38 Estrogens Phase 4,Phase 2
39 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 insulin Phase 4
43 Insulin, Globin Zinc Phase 4
44 Mitogens Phase 4,Phase 2,Phase 1
45 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Sympatholytics Phase 4,Phase 3
48 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 215)
# 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 Comparison of the Cosmetic Outcome of Hypofractionated Versus Normofractionated IMRT in Treatment of Breast Cancer Unknown status NCT01403779 Phase 3
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 Trial of Methyl Aminolevulinate Plus Aktilite in Facial Photodamage Completed NCT00629317 Phase 3 Methyl Aminolevulinate
30 Study of the Safety and Efficacy of OmegaD Softgels in the Treatment of Dry Eye Disease Completed NCT02980224 Phase 3 OmegaD;Placebo
31 Safety and Efficacy of Azelaic Acid Foam, 15 % in Papulopustular Rosacea Completed NCT01555463 Phase 3 Azelaic acid foam, 15% (BAY39-6251);Vehicle foam
32 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
33 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
34 Isotretinoin in Papular-Pustular Rosacea Completed NCT00882531 Phase 3 isotretinoin;placebo
35 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03319849 Phase 3
36 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03316300 Phase 3
37 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%
38 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
39 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
40 Nadolol Versus Propranolol in Children With Infantile Hemangiomas Recruiting NCT02505971 Phase 3 Nadolol;Propranolol
41 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
42 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
43 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 Not yet recruiting NCT03563053 Phase 3
44 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT Not yet recruiting NCT02963129 Phase 3 Mupirocin
45 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Not yet recruiting NCT03518398 Phase 3
46 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
47 Atralin Gel for the Treatment of Rosacea Terminated NCT01125930 Phase 3 vehicle gel;Atralin gel
48 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
49 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2 Submucosal Bevacizumab
50 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2 Bevacizumab

Search NIH Clinical Center for Telangiectasis

Cochrane evidence based reviews: telangiectasis

Sources

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, Eye, Liver, Bone, Prostate, Testes, Endothelial
Sources

Publications for Telangiectasis

About this section

Articles related to Telangiectasis:

(show top 50) (show all 197)
# Title Authors Year
1
Predictive multi-imaging biomarkers relevant for visual acuity in idiopathic macular telangiectasis type 1. ( 29506510 )
2018
2
Idiopathic macular telangiectasis type 2 and co-existent diabetic retinopathy. ( 29299346 )
2017
3
Laparoscopic finding of a hepatic subcapsular spider-like telangiectasis sign in biliary atresia. ( 29093620 )
2017
4
VASCULAR DISTORTION AND DRAGGING RELATED TO APPARENT TISSUE CONTRACTION IN MACULAR TELANGIECTASIS TYPE 2. ( 28492432 )
2017
5
Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. ( 25892364 )
2015
6
Telangiectasis in CREST syndrome and systemic sclerosis: correlation of clinical and pathological features with response to pulsed dye laser treatment. ( 23494102 )
2014
7
Retinal telangiectasis detected during a vision screening examination in a child with hearing loss led to the diagnosis of facioscapulohumeral muscular dystrophy. ( 24924285 )
2014
8
Idiopathic macular telangiectasia type 2 (idiopathic juxtafoveolar retinal telangiectasis type 2A, Mac Tel 2). ( 24160729 )
2013
9
Occlusive idiopathic juxtafoveolar retinal telangiectasis type 4. ( 23769792 )
2013
10
Intravitreal bevacizumab in the treatment of idiopathic juxtafoveal telangiectasis type i. ( 24269459 )
2013
11
Re: Retinal pigment epitheliopathy, macular telangiectasis, and intraretinal crystal deposits in HIV-positive patients receiving ritonavir. ( 22277908 )
2012
12
Idiopathic juxtafoveal retinal telangiectasis and retinal macroaneurysm treated with indocyanine green dye-enhanced photocoagulation. ( 23241941 )
2012
13
Fundus autofluorescence patterns in type 2A idiopathic juxtafoveolar retinal telangiectasis. ( 21786266 )
2012
14
Clinical features of idiopathic juxtafoveal telangiectasis in Koreans. ( 21860567 )
2011
15
Retinal pigment epitheliopathy, macular telangiectasis, and intraretinal crystal deposits in HIV-positive patients receiving ritonavir. ( 20966821 )
2011
16
MRI findings in giant pontine capillary telangiectasis associated with a developmental venous anomaly. ( 22191296 )
2011
17
Novel mutation in PANK2 associated with retinal telangiectasis. ( 20974629 )
2011
18
Intravitreal triamcinolone for management of idiopathic juxtafoveolar telangiectasis. ( 20606875 )
2010
19
Integrated clinical evaluation of Type 2A idiopathic juxtafoveolar retinal telangiectasis. ( 19881399 )
2010
20
Idiopathic juxtafoveolar retinal telangiectasis: a current review. ( 20844678 )
2010
21
Obliterative idiopathic juxtafoveolar telangiectasis: a 25-year follow-up. ( 25390131 )
2010
22
A case of subretinal neovascularization treated with intravitreal ranibizumab in a patient with idiopathic juxtafoveal retinal telangiectasis. ( 19503767 )
2009
23
Pulmonary arteriovenous fistula in hereditary hemorrhagic telangiectasis. ( 19763660 )
2009
24
Resolution of macular edema in idiopathic juxtafoveal telangiectasis using PDT. ( 19205501 )
2009
25
Fatal rupture of pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasis and severe PAH. ( 20956122 )
2009
26
Early morphological changes and functional abnormalities in group 2A idiopathic juxtafoveolar retinal telangiectasis using spectral domain optical coherence tomography and microperimetry. ( 18703550 )
2008
27
Intravitreal pegaptanib reduces fluorescein leakage in idiopathic parafoveal telangiectasis. ( 18711476 )
2008
28
Juxtafoveolar telangiectasis associated with CREST syndrome. ( 18716957 )
2008
29
Re: Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis. ( 18301049 )
2008
30
Macular edema associated with latanoprost use in a patient with idiopathic juxtafoveal retinal telangiectasis. ( 18369705 )
2008
31
Bladder wall telangiectasis causing life-threatening haematuria in ataxia-telangiectasia: a new observation. ( 18394116 )
2008
32
Intravitreal bevacizumab compared with photodynamic therapy with verteporfin for group 2a parafoveal retinal telangiectasis. ( 18711474 )
2008
33
Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis. ( 17218917 )
2007
34
Optical coherence tomography findings in idiopathic juxtafoveal retinal telangiectasis. ( 17120013 )
2007
35
Intravitreal bevacizumab (Avastin) associated with the regression of subretinal neovascularization in idiopathic juxtafoveolar retinal telangiectasis. ( 17136357 )
2007
36
Intravitreal bevacizumab for macular edema from idiopathic juxtafoveal retinal telangiectasis. ( 17396701 )
2007
37
Full-thickness macular hole formation in idiopathic parafoveal telangiectasis. ( 17420701 )
2007
38
Idiopathic juxtafoveolar retinal telangiectasis in monozygotic twins. ( 18024833 )
2007
39
Intravitreal bevacizumab (Avastin) for the treatment of bilateral acquired juxtafoveal retinal telangiectasis associated with choroidal neovascular membrane. ( 17693997 )
2007
40
Centripetal retinal capillary proliferation in idiopathic parafoveolar telangiectasis. ( 18024824 )
2007
41
Subretinal neovascular membrane associated with type 2a idiopathic juxtafoveolar telangiectasis in pseudoxanthoma elasticum. ( 16988836 )
2007
42
Indocyanine-green-mediated photothrombosis (IMP) with intravitreal triamcinolone acetonide for macular edema secondary to group 2A idiopathic parafoveal telangiectasis without choroidal neovascularization: a pilot study. ( 17619895 )
2007
43
Optical coherence tomography characteristics of group 2A idiopathic parafoveal telangiectasis. ( 18046227 )
2007
44
Idiopathic juxtafoveal retinal telangiectasis: new findings by ultrahigh-resolution optical coherence tomography. ( 16343625 )
2006
45
Optical coherence tomography in group 2A idiopathic juxtafoveolar retinal telangiectasis. ( 17030708 )
2006
46
Morphologic features of group 2A idiopathic juxtafoveolar retinal telangiectasis in three-dimensional optical coherence tomography. ( 16876527 )
2006
47
A clue for telangiectasis in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. ( 16902284 )
2006
48
Iris microhaemangiomas and idiopathic juxtafoveolar retinal telangiectasis. ( 17083546 )
2006
49
Photodynamic therapy for subretinal neovascularization in type 2A idiopathic juxtafoveolar telangiectasis. ( 16462869 )
2006
50
Optical coherence tomography in group 2A idiopathic juxtafoveolar telangiectasis. ( 16355952 )
2005
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 27)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.57 ACVRL1 ATM BMP6 BMPR2 GDF2 RASA1
2
PAK Pathway 64
Show member pathways
 13.1 ACVRL1 BMP6 BMPR2 GDF2 SMAD4 TGFBR1
3
Colorectal Cancer Metastasis 64
12.01 SMAD4 TGFBR1 VEGFA
4
FoxO signaling pathway 37
Show member pathways
 11.91 ATM SMAD4 TGFBR1
5
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.9 BMP6 GDF2 SMAD4 TGFBR1
6
Hippo signaling pathway 37
11.84 AFP BMP6 BMPR2 SMAD4 TGFBR1
7
SMAD Signaling Network 64
11.8 ATM BMP6 SMAD4 TGFBR1 VEGFA
8
AGE-RAGE signaling pathway in diabetic complications 37
11.75 SMAD4 TGFBR1 VEGFA
9
Integrated Breast Cancer Pathway 1
11.74 ATM BMPR2 SMAD4 TGFBR1 VEGFA
10
TGF-beta Signaling Pathways 65
11.72 ACVRL1 ENG SMAD4 TGFBR1
11
Wnt / Hedgehog / Notch 4
11.69 AFP BMP6 BMPR2 ENG SMAD4 TGFBR1
12
Loss of Function of SMAD2/3 in Cancer 66
Show member pathways
 11.61 BMPR2 SMAD4 TGFBR1
13
TGF-beta signaling pathway (KEGG) 37
11.59 BMP6 BMPR2 SMAD4 TGFBR1
14
Signaling by BMP 66
Show member pathways
 11.57 BMP6 BMPR2 SMAD4
15
HIF-1-alpha transcription factor network 1
11.51 ENG SMAD4 VEGFA
16
TGF-beta Receptor Signaling (WikiPathways) 1
11.45 ENG SMAD4 TGFBR1
17
Hepatitis C and Hepatocellular Carcinoma 1
11.38 SMAD4 TGFBR1 VEGFA
18
Heart Development 1
11.32 BMPR2 SMAD4 VEGFA
19
IL-2 Gene Expression in Activated and Quiescent T-Cells 64
Show member pathways
 11.31 SMAD4 TGFBR1
20
Extracellular vesicle-mediated signaling in recipient cells 1
11.11 SMAD4 TGFBR1
21
Glypican 1 network 1
11.04 TGFBR1 VEGFA
22
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
11.03 ENG SMAD4 TGFBR1
23
Cardiomyocyte Differentiation through BMP Receptors 64
10.95 BMPR2 SMAD4
24
Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex 1
10.95 ATM SMAD4
25
NTHi-Induced Signaling 64
10.92 SMAD4 TGFBR1
26
ALK2 signaling events 1
10.61 BMPR2 SMAD4
27
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 9.7 AFP BMP6 BMPR2 ENG GDF2 NDP
2 receptor complex GO:0043235 9.43 BMPR2 ENG TGFBR1
3 cell surface GO:0009986 9.1 ACVRL1 BMPR2 ENG NDP TGFBR1 VEGFA
4 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 60)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 ATM ENG SOX18 TGFBR1
2 response to hypoxia GO:0001666 9.95 ACVRL1 ATM SMAD4 VEGFA
3 in utero embryonic development GO:0001701 9.95 ACVRL1 SMAD4 SOX18 TGFBR1 VEGFA
4 positive regulation of angiogenesis GO:0045766 9.93 ACVRL1 ENG GDF2 VEGFA
5 negative regulation of cell growth GO:0030308 9.91 ACVRL1 BMPR2 GDF2 SMAD4
6 angiogenesis GO:0001525 9.91 ACVRL1 ENG GDF2 SOX18 TGFBR1 VEGFA
7 kidney development GO:0001822 9.89 BMP6 SMAD4 TGFBR1 VEGFA
8 anterior/posterior pattern specification GO:0009952 9.88 BMPR2 SMAD4 TGFBR1
9 transforming growth factor beta receptor signaling pathway GO:0007179 9.87 ACVRL1 BMPR2 SMAD4 TGFBR1
10 signal transduction by protein phosphorylation GO:0023014 9.86 ACVRL1 BMPR2 TGFBR1
11 cellular iron ion homeostasis GO:0006879 9.85 BMP6 GDF2 SMAD4
12 positive regulation of osteoblast differentiation GO:0045669 9.85 BMP6 BMPR2 GDF2
13 outflow tract morphogenesis GO:0003151 9.83 BMPR2 SOX18 VEGFA
14 ovarian follicle development GO:0001541 9.82 ATM SMAD4 VEGFA
15 negative regulation of endothelial cell proliferation GO:0001937 9.81 ACVRL1 GDF2 TGFBR1
16 ventricular septum morphogenesis GO:0060412 9.8 BMPR2 SMAD4 TGFBR1
17 branching involved in blood vessel morphogenesis GO:0001569 9.8 ENG GDF2 VEGFA
18 SMAD protein signal transduction GO:0060395 9.8 AFP BMP6 GDF2 SMAD4
19 blood vessel morphogenesis GO:0048514 9.79 ACVRL1 GDF2 RASA1
20 outflow tract septum morphogenesis GO:0003148 9.77 BMPR2 ENG SMAD4
21 vasculogenesis GO:0001570 9.77 ENG GDF2 RASA1 SOX18 VEGFA
22 artery morphogenesis GO:0048844 9.76 ENG TGFBR1 VEGFA
23 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.75 ACVRL1 BMPR2 TGFBR1
24 neuron fate commitment GO:0048663 9.73 SMAD4 TGFBR1
25 female gonad development GO:0008585 9.73 ATM SMAD4
26 positive regulation of endothelial cell differentiation GO:0045603 9.73 ACVRL1 BMP6 GDF2
27 negative regulation of endothelial cell migration GO:0010596 9.72 ACVRL1 GDF2
28 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.72 ENG SMAD4
29 positive regulation of chondrocyte differentiation GO:0032332 9.72 ACVRL1 BMP6
30 cellular response to BMP stimulus GO:0071773 9.72 ACVRL1 BMP6 BMPR2 GDF2 SMAD4
31 endocardial cushion morphogenesis GO:0003203 9.71 ACVRL1 ENG
32 ventricular trabecula myocardium morphogenesis GO:0003222 9.71 ENG TGFBR1
33 positive regulation of cartilage development GO:0061036 9.71 BMPR2 GDF2
34 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 GDF2 TGFBR1
35 positive regulation of SMAD protein signal transduction GO:0060391 9.71 BMP6 SMAD4 TGFBR1
36 activin receptor signaling pathway GO:0032924 9.71 ACVRL1 BMPR2 GDF2 TGFBR1
37 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.7 ENG SMAD4
38 positive regulation of cellular component movement GO:0051272 9.7 TGFBR1 VEGFA
39 endothelial cell activation GO:0042118 9.7 SMAD4 TGFBR1
40 response to transforming growth factor beta GO:0071559 9.7 ENG SMAD4
41 lymphangiogenesis GO:0001946 9.7 ACVRL1 BMPR2 SOX18
42 coronary artery morphogenesis GO:0060982 9.69 TGFBR1 VEGFA
43 artery development GO:0060840 9.69 ACVRL1 BMPR2
44 dorsal aorta morphogenesis GO:0035912 9.69 ACVRL1 ENG
45 negative regulation of DNA biosynthetic process GO:2000279 9.69 ACVRL1 BMPR2 GDF2
46 retina vasculature development in camera-type eye GO:0061298 9.68 ACVRL1 BMPR2
47 positive regulation of axon extension involved in axon guidance GO:0048842 9.68 BMPR2 VEGFA
48 endocardial cell differentiation GO:0060956 9.67 SMAD4 SOX18
49 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.66 ENG TGFBR1
50 venous blood vessel development GO:0060841 9.65 ACVRL1 BMPR2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.83 ACVRL1 ATM BMPR2 TGFBR1
2 cytokine activity GO:0005125 9.67 BMP6 GDF2 NDP VEGFA
3 growth factor activity GO:0008083 9.56 BMP6 GDF2 NDP VEGFA
4 activin binding GO:0048185 9.51 ACVRL1 ENG
5 I-SMAD binding GO:0070411 9.49 SMAD4 TGFBR1
6 BMP binding GO:0036122 9.48 BMPR2 ENG
7 type II transforming growth factor beta receptor binding GO:0005114 9.46 ENG TGFBR1
8 BMP receptor activity GO:0098821 9.43 ACVRL1 BMPR2
9 transforming growth factor beta-activated receptor activity GO:0005024 9.4 ACVRL1 TGFBR1
10 transforming growth factor beta binding GO:0050431 9.33 ACVRL1 ENG TGFBR1
11 transforming growth factor beta receptor activity, type I GO:0005025 9.32 ACVRL1 TGFBR1
12 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.13 ACVRL1 BMPR2 TGFBR1
13 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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