MCID: TLN003
MIFTS: 52

Telangiectasis

Categories: Cardiovascular diseases

Aliases & Classifications for Telangiectasis

MalaCards integrated aliases for Telangiectasis:

Name: Telangiectasis 12 41 14 69
Telangiectasia 12 72 28 51

Classifications:



External Ids:

Disease Ontology 12 DOID:1272
MeSH 41 D013684
NCIt 46 C28194
UMLS 69 C0039446

Summaries for Telangiectasis

MalaCards based summary : Telangiectasis, also known as telangiectasia, is related to coats disease and pulmonary arteriovenous malformation. 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 : 72 Telangiectasias, also known as spider veins, are small dilated blood vessels near the surface of the... more...

Related Diseases for Telangiectasis

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 coats disease 32.5 NDP VEGFA
2 pulmonary arteriovenous malformation 30.1 ACVRL1 ENG
3 arteriovenous malformation 28.3 ACVRL1 BMPR2 ENG RASA1 VEGFA
4 hereditary hemorrhagic telangiectasia 27.0 ACVRL1 BMP6 BMPR2 ENG GDF2 SMAD4
5 idiopathic macular telangiectasia type 3 11.2
6 idiopathic juxtafoveal retinal telangiectasia 11.1
7 reynolds syndrome 11.0
8 idiopathic macular telangiectasia type 1 10.9
9 retinitis 10.5
10 pulmonary venoocclusive disease 10.4 ACVRL1 BMPR2
11 urethra adenocarcinoma 10.3 ATM SMAD4
12 urethra clear cell adenocarcinoma 10.3 ATM SMAD4
13 arteriovenous malformations of the brain 10.3 ACVRL1 ENG
14 chronic pulmonary heart disease 10.3 ACVRL1 BMPR2
15 urethral benign neoplasm 10.3 ATM SMAD4
16 eisenmenger syndrome 10.2 BMPR2 TGFBR1
17 pulmonary hypertension, primary, 1 10.2 ACVRL1 BMPR2 ENG
18 heritable pulmonary arterial hypertension 10.2 ACVRL1 BMPR2 ENG
19 ataxia and polyneuropathy, adult-onset 10.1
20 hydrops, lactic acidosis, and sideroblastic anemia 10.1
21 weber syndrome 10.1 ACVRL1 ENG RASA1
22 fibrochondrogenesis 10.0 BMP6 ENG
23 macular retinal edema 10.0
24 glomeruloid hemangioma 10.0 ENG VEGFA
25 squamous cell carcinoma of the hypopharynx 10.0 ENG VEGFA
26 pulmonary arteriovenous fistulas 10.0
27 arteriovenous fistula 9.9
28 crest syndrome 9.9
29 muscular dystrophy 9.9
30 pulmonary arterio-veinous fistula 9.9
31 facioscapulohumeral muscular dystrophy 1 9.9
32 microvascular complications of diabetes 5 9.9
33 cerebritis 9.9
34 angiodysplasia 9.8 ACVRL1 ENG VEGFA
35 angiokeratoma circumscriptum 9.8 RASA1 VEGFA
36 dyskinetic cerebral palsy 9.8 AFP ATM
37 skin hemangioma 9.8 RASA1 VEGFA
38 scleroderma, familial progressive 9.8
39 hepatitis 9.8
40 choroiditis 9.8
41 aneurysm 9.8
42 capillary hemangioma 9.8 RASA1 VEGFA
43 renal pelvis carcinoma 9.7 AFP VEGFA
44 ovarian cyst 9.7 AFP VEGFA
45 venous malformations, multiple cutaneous and mucosal 9.7 ACVRL1 RASA1 SMAD4 SOX18
46 keratitis, hereditary 9.6
47 scapuloperoneal myopathy, myh7-related 9.6
48 x-ray sensitivity 9.6
49 ataxia-telangiectasia 9.6
50 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.6

Graphical network of the top 20 diseases related to Telangiectasis:



Diseases related to Telangiectasis

Symptoms & Phenotypes for Telangiectasis

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

25 (show top 50) (show all 58)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.74 ATM RASA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.74 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.74 ATM BMP6 SMAD4 TGFBR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.74 ACVRL1 BMPR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.74 ATM BMP6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.74 SOX18
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.74 ATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.74 ACVRL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.74 BMP6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.74 TGFBR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.74 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.74 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.74 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.74 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.74 ACVRL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.74 TGFBR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.74 SOX18
18 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.74 SOX18
19 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.74 SOX18
20 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.74 ACVRL1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.74 BMP6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.74 SMAD4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.74 ATM BMP6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.74 ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.74 TGFBR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.74 BMPR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.74 SMAD4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.74 RASA1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.74 TGFBR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.74 TGFBR1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.74 ATM
32 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.74 SMAD4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.74 ACVRL1 SMAD4
34 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.74 SMAD4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.74 BMP6
36 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.74 BMPR2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.74 RASA1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.74 SMAD4
39 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.74 ACVRL1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.74 ACVRL1 SMAD4
41 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.74 SMAD4
42 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.74 BMP6 SOX18
43 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.74 SOX18
44 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.74 ATM
45 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.74 BMPR2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.74 ACVRL1 ATM SMAD4 RASA1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.74 SOX18
48 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.74 ATM ACVRL1 BMPR2 TGFBR1 SOX18
49 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.74 TGFBR1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.74 RASA1

MGI Mouse Phenotypes related to Telangiectasis:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 GDF2 NDP BMPR2 ACVRL1 ENG ATM
2 behavior/neurological MP:0005386 10.19 BMPR2 ACVRL1 AFP ENG ATM VEGFA
3 growth/size/body region MP:0005378 10.18 BMP6 BMPR2 ACVRL1 ENG ATM VEGFA
4 homeostasis/metabolism MP:0005376 10.16 ATM GDF2 BMPR2 ACVRL1 AFP ENG
5 embryo MP:0005380 10.1 BMPR2 ACVRL1 ENG ATM VEGFA RASA1
6 mortality/aging MP:0010768 10.1 ENG ATM BMPR2 ACVRL1 AFP SMAD4
7 digestive/alimentary MP:0005381 10.05 ACVRL1 ENG VEGFA SOX18 RASA1 TGFBR1
8 immune system MP:0005387 10.03 ATM GDF2 BMPR2 SMAD4 SOX18 RASA1
9 muscle MP:0005369 9.91 BMPR2 ACVRL1 ENG VEGFA RASA1 TGFBR1
10 nervous system MP:0003631 9.91 ATM BMPR2 ACVRL1 ENG SMAD4 VEGFA
11 neoplasm MP:0002006 9.72 ATM AFP SMAD4 TGFBR1 VEGFA
12 normal MP:0002873 9.7 ENG BMPR2 ACVRL1 SMAD4 SOX18 TGFBR1
13 reproductive system MP:0005389 9.5 ATM GDF2 BMP6 AFP SMAD4 NDP
14 skeleton MP:0005390 9.23 GDF2 BMP6 NDP BMPR2 VEGFA RASA1

Drugs & Therapeutics for Telangiectasis

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

(show top 50) (show all 235)
# 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
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
4
Polidocanol Approved Phase 4 9002-92-0
5
Metformin Approved Phase 4 657-24-9 4091 14219
6
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
7
Amantadine Approved Phase 4 768-94-5 2130
8
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
9
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
10
Clobetasol Approved, Investigational Phase 4,Phase 3,Phase 1 25122-41-2, 25122-46-7 5311051 32798
11
Azelaic acid Approved Phase 4,Phase 3,Phase 2 123-99-9 2266
12
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 17753757 6447131
13
Tacrolimus Approved, Investigational Phase 4,Phase 2 104987-11-3 445643 439492
14
Aminolevulinic acid Approved Phase 4,Phase 3,Phase 2 106-60-5 137
15
Menthol Approved Phase 4 2216-51-5 16666
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 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Adrenergic Agonists Phase 4,Phase 1,Phase 2
22 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 1,Phase 2
23 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2
24 Analgesics Phase 4,Phase 2
25 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2
27 Contraceptive Agents Phase 4
28 Estradiol 17 beta-cypionate Phase 4
29 Estradiol 3-benzoate Phase 4
30 Estradiol valerate Phase 4 979-32-8
31 Estrogens Phase 4,Phase 2
32 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
33 Hormones Phase 4,Phase 3,Phase 2,Phase 1
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
35 insulin Phase 4
36 Insulin, Globin Zinc Phase 4
37 Mitogens Phase 4,Phase 2,Phase 1
38 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
40 Polyestradiol phosphate Phase 4
41 Sympatholytics Phase 4,Phase 3
42 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
43 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
44 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
45 Immunosuppressive Agents Phase 4,Phase 2,Phase 1
46 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
47 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Hypoglycemic Agents Phase 4
49 Brimonidine Tartrate Phase 4,Phase 1,Phase 2 70359-46-5
50 Analgesics, Non-Narcotic Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 173)

# 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 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659 Phase 4
7 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
8 Treatment of Lower Extremity Spider Veins With Excel V Completed NCT01362192 Phase 4
9 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
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 Bilateral Comparison Study of Elidel 1% and Hylatopic Plus Emollient Foam for the Treatment of Subjects With Atopic Dermatitis Completed NCT01202149 Phase 4
12 Safety and Efficacy of Pimecrolimus Cream 1% in Mild to Moderate Head and Neck Atopic Dermatitis (AD) Patients Completed NCT00121316 Phase 4 Pimecrolimus;Placebo
13 Photodynamic Therapy for Papulopustular Rosacea Recruiting NCT02075671 Phase 4 Aminolevulinic acid topical solution 20%
14 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
15 Safety and Tolerability of Oxymetazoline and Energy-Based Therapy in Participants With Rosacea Recruiting NCT03380390 Phase 4 Oxymetazoline HCL 1.0% Cream
16 Effect of Avastin in Juxtafoveal Telangiectasias Unknown status NCT00406380 Phase 3 Bevacizumab
17 Comparison of the Cosmetic Outcome of Hypofractionated Versus Normofractionated IMRT in Treatment of Breast Cancer Unknown status NCT01403779 Phase 3
18 Long Term Results of the Canadian Breast IMRT Study Unknown status NCT01803139 Phase 3
19 Nadolol Versus Propranolol in Children With Infantile Hemangiomas Unknown status NCT02505971 Phase 3 Nadolol;Propranolol
20 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3 Intravitreal Injection of Bevacizumab (1.25 mg/0.05ml)
21 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
22 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
23 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
24 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Completed NCT00355108 Phase 3 tranexamic acid
25 Trial of Methyl Aminolevulinate Plus Aktilite in Facial Photodamage Completed NCT00629317 Phase 3 Methyl Aminolevulinate
26 Study of the Safety and Efficacy of OmegaD Softgels in the Treatment of Dry Eye Disease Completed NCT02980224 Phase 3 OmegaD;Placebo
27 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
28 Isotretinoin in Papular-Pustular Rosacea Completed NCT00882531 Phase 3 isotretinoin;placebo
29 Safety and Efficacy of Azelaic Acid Foam, 15 % in Papulopustular Rosacea Completed NCT01555463 Phase 3 Azelaic acid foam, 15% (BAY39-6251);Vehicle foam
30 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03319849 Phase 3
31 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03316300 Phase 3
32 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%
33 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
34 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT Not yet recruiting NCT02963129 Phase 3 Mupirocin
35 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
36 Atralin Gel for the Treatment of Rosacea Terminated NCT01125930 Phase 3 vehicle gel;Atralin gel
37 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
38 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2 Submucosal Bevacizumab
39 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2 Bevacizumab
40 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2 bevacuzimab spray
41 Efficacy and Safety of Intralesional Corticosterois in the Treatment of Vitiligo Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
42 An Evaluation of PDI-320 in Comparison to Its Monads in Adults With Rosacea Unknown status NCT01828177 Phase 2 PDI-320;PDI-320 Monad #1;PDI-320 Monad #2;Vehicle
43 High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal Telangiectasia Completed NCT01205035 Phase 2 ranibizumab 2.0mg
44 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
45 Ranibizumab to Treat Type 2 Idiopathic Macular Telangiectasia (RAMA-Trial) Completed NCT00504400 Phase 2 Intravitreal injection ranibizumab
46 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO) Completed NCT02484716 Phase 2 Timolol nasal spray;Placebo nasal spray
47 Treatment of Idiopathic Perifoveal Telangiectasia (IPT) With Open-Label Anecortave Acetate (15mg.). Completed NCT00211328 Phase 2 anecortave acetate
48 Efficacy and Safety of Bevacizumab for the Treatment Hemorrhagic Hereditary Telangiectasia (HHT) Associated With Severe Hepatic Vascular Malformations. Phase II Study Completed NCT00843440 Phase 2 Bevacizumab
49 Intranasal Submucosal Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01314274 Phase 2 Bevacizumab;NaCl
50 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen

Search NIH Clinical Center for Telangiectasis

Cochrane evidence based reviews: telangiectasis

Genetic Tests for Telangiectasis

Genetic tests related to Telangiectasis:

# Genetic test Affiliating Genes
1 Telangiectasia 28

Anatomical Context for Telangiectasis

MalaCards organs/tissues related to Telangiectasis:

38
Skin, Eye, Liver, Bone, Endothelial, Testes, Colon

Publications for Telangiectasis

Articles related to Telangiectasis:

(show top 50) (show all 196)
# Title Authors Year
1
VASCULAR DISTORTION AND DRAGGING RELATED TO APPARENT TISSUE CONTRACTION IN MACULAR TELANGIECTASIS TYPE 2. ( 28492432 )
2017
2
Laparoscopic finding of a hepatic subcapsular spider-like telangiectasis sign in biliary atresia. ( 29093620 )
2017
3
Idiopathic macular telangiectasis type 2 and co-existent diabetic retinopathy. ( 29299346 )
2017
4
Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. ( 25892364 )
2015
5
Retinal telangiectasis detected during a vision screening examination in a child with hearing loss led to the diagnosis of facioscapulohumeral muscular dystrophy. ( 24924285 )
2014
6
Telangiectasis in CREST syndrome and systemic sclerosis: correlation of clinical and pathological features with response to pulsed dye laser treatment. ( 23494102 )
2014
7
Occlusive idiopathic juxtafoveolar retinal telangiectasis type 4. ( 23769792 )
2013
8
Idiopathic macular telangiectasia type 2 (idiopathic juxtafoveolar retinal telangiectasis type 2A, Mac Tel 2). ( 24160729 )
2013
9
Intravitreal bevacizumab in the treatment of idiopathic juxtafoveal telangiectasis type i. ( 24269459 )
2013
10
Re: Retinal pigment epitheliopathy, macular telangiectasis, and intraretinal crystal deposits in HIV-positive patients receiving ritonavir. ( 22277908 )
2012
11
Fundus autofluorescence patterns in type 2A idiopathic juxtafoveolar retinal telangiectasis. ( 21786266 )
2012
12
Idiopathic juxtafoveal retinal telangiectasis and retinal macroaneurysm treated with indocyanine green dye-enhanced photocoagulation. ( 23241941 )
2012
13
MRI findings in giant pontine capillary telangiectasis associated with a developmental venous anomaly. ( 22191296 )
2011
14
Retinal pigment epitheliopathy, macular telangiectasis, and intraretinal crystal deposits in HIV-positive patients receiving ritonavir. ( 20966821 )
2011
15
Novel mutation in PANK2 associated with retinal telangiectasis. ( 20974629 )
2011
16
Clinical features of idiopathic juxtafoveal telangiectasis in Koreans. ( 21860567 )
2011
17
Integrated clinical evaluation of Type 2A idiopathic juxtafoveolar retinal telangiectasis. ( 19881399 )
2010
18
Intravitreal triamcinolone for management of idiopathic juxtafoveolar telangiectasis. ( 20606875 )
2010
19
Obliterative idiopathic juxtafoveolar telangiectasis: a 25-year follow-up. ( 25390131 )
2010
20
Idiopathic juxtafoveolar retinal telangiectasis: a current review. ( 20844678 )
2010
21
Pulmonary arteriovenous fistula in hereditary hemorrhagic telangiectasis. ( 19763660 )
2009
22
Fatal rupture of pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasis and severe PAH. ( 20956122 )
2009
23
Resolution of macular edema in idiopathic juxtafoveal telangiectasis using PDT. ( 19205501 )
2009
24
A case of subretinal neovascularization treated with intravitreal ranibizumab in a patient with idiopathic juxtafoveal retinal telangiectasis. ( 19503767 )
2009
25
Early morphological changes and functional abnormalities in group 2A idiopathic juxtafoveolar retinal telangiectasis using spectral domain optical coherence tomography and microperimetry. ( 18703550 )
2008
26
Intravitreal pegaptanib reduces fluorescein leakage in idiopathic parafoveal telangiectasis. ( 18711476 )
2008
27
Intravitreal bevacizumab compared with photodynamic therapy with verteporfin for group 2a parafoveal retinal telangiectasis. ( 18711474 )
2008
28
Re: Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis. ( 18301049 )
2008
29
Juxtafoveolar telangiectasis associated with CREST syndrome. ( 18716957 )
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
Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis. ( 17218917 )
2007
33
Optical coherence tomography findings in idiopathic juxtafoveal retinal telangiectasis. ( 17120013 )
2007
34
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
35
Intravitreal bevacizumab (Avastin) associated with the regression of subretinal neovascularization in idiopathic juxtafoveolar retinal telangiectasis. ( 17136357 )
2007
36
Optical coherence tomography characteristics of group 2A idiopathic parafoveal telangiectasis. ( 18046227 )
2007
37
Idiopathic juxtafoveolar retinal telangiectasis in monozygotic twins. ( 18024833 )
2007
38
Intravitreal bevacizumab for macular edema from idiopathic juxtafoveal retinal telangiectasis. ( 17396701 )
2007
39
Subretinal neovascular membrane associated with type 2a idiopathic juxtafoveolar telangiectasis in pseudoxanthoma elasticum. ( 16988836 )
2007
40
Centripetal retinal capillary proliferation in idiopathic parafoveolar telangiectasis. ( 18024824 )
2007
41
Intravitreal bevacizumab (Avastin) for the treatment of bilateral acquired juxtafoveal retinal telangiectasis associated with choroidal neovascular membrane. ( 17693997 )
2007
42
Full-thickness macular hole formation in idiopathic parafoveal telangiectasis. ( 17420701 )
2007
43
Iris microhaemangiomas and idiopathic juxtafoveolar retinal telangiectasis. ( 17083546 )
2006
44
A clue for telangiectasis in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. ( 16902284 )
2006
45
Morphologic features of group 2A idiopathic juxtafoveolar retinal telangiectasis in three-dimensional optical coherence tomography. ( 16876527 )
2006
46
Idiopathic juxtafoveal retinal telangiectasis: new findings by ultrahigh-resolution optical coherence tomography. ( 16343625 )
2006
47
Optical coherence tomography in group 2A idiopathic juxtafoveolar retinal telangiectasis. ( 17030708 )
2006
48
Photodynamic therapy for subretinal neovascularization in type 2A idiopathic juxtafoveolar telangiectasis. ( 16462869 )
2006
49
Bilateral sequential photodynamic therapy for sub-retinal neovascularization with type 2A parafoveal telangiectasis. ( 16086966 )
2005
50
Use of intravitreal triamcinolone acetonide injection in unilateral idiopathic juxtafoveal telangiectasis. ( 16181291 )
2005

Variations for Telangiectasis

Expression for Telangiectasis

Search GEO for disease gene expression data for Telangiectasis.

Pathways for Telangiectasis

Pathways related to Telangiectasis according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 ACVRL1 ATM BMP6 BMPR2 GDF2 RASA1
2
Show member pathways
13.11 ACVRL1 BMP6 BMPR2 GDF2 SMAD4 TGFBR1
3 12.02 SMAD4 TGFBR1 VEGFA
4
Show member pathways
11.98 SMAD4 TGFBR1 VEGFA
5
Show member pathways
11.91 ATM SMAD4 TGFBR1
6 11.85 ATM BMP6 SMAD4 TGFBR1 VEGFA
7 11.84 AFP BMP6 BMPR2 SMAD4 TGFBR1
8 11.75 SMAD4 TGFBR1 VEGFA
9 11.74 ATM BMPR2 SMAD4 TGFBR1 VEGFA
10 11.72 ACVRL1 ENG SMAD4 TGFBR1
11 11.69 AFP BMP6 BMPR2 ENG SMAD4 TGFBR1
12 11.63 BMP6 BMPR2 SMAD4 TGFBR1
13
Show member pathways
11.61 BMPR2 SMAD4 TGFBR1
14
Show member pathways
11.57 BMP6 BMPR2 SMAD4
15 11.51 ENG SMAD4 VEGFA
16
Show member pathways
11.45 RASA1 SMAD4 TGFBR1
17 11.45 ENG SMAD4 TGFBR1
18 11.38 SMAD4 TGFBR1 VEGFA
19 11.32 BMPR2 SMAD4 VEGFA
20 11.04 TGFBR1 VEGFA
21 11.03 ENG SMAD4 TGFBR1
22 10.95 BMPR2 SMAD4
23 10.95 ATM SMAD4
24 10.92 SMAD4 TGFBR1
25 10.6 BMPR2 SMAD4
26
Show member pathways
10.45 ACVRL1 BMPR2 GDF2 SMAD4 TGFBR1

GO Terms for Telangiectasis

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 cell surface GO:0009986 9.1 ACVRL1 BMPR2 ENG NDP TGFBR1 VEGFA
3 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 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 9.92 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 anterior/posterior pattern specification GO:0009952 9.88 BMPR2 SMAD4 TGFBR1
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.88 ACVRL1 SMAD4 TGFBR1
9 kidney development GO:0001822 9.88 BMP6 SMAD4 TGFBR1 VEGFA
10 cellular iron ion homeostasis GO:0006879 9.85 BMP6 GDF2 SMAD4
11 positive regulation of osteoblast differentiation GO:0045669 9.85 BMP6 BMPR2 GDF2
12 outflow tract morphogenesis GO:0003151 9.83 BMPR2 SOX18 VEGFA
13 signal transduction by protein phosphorylation GO:0023014 9.83 ACVRL1 BMPR2 TGFBR1
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 SMAD protein signal transduction GO:0060395 9.8 AFP BMP6 GDF2 SMAD4
18 branching involved in blood vessel morphogenesis GO:0001569 9.79 ENG GDF2 VEGFA
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 9.75 ENG TGFBR1 VEGFA
23 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.74 ACVRL1 BMPR2 TGFBR1
24 female gonad development GO:0008585 9.73 ATM SMAD4
25 positive regulation of endothelial cell differentiation GO:0045603 9.73 ACVRL1 BMP6 GDF2
26 negative regulation of endothelial cell migration GO:0010596 9.72 ACVRL1 GDF2
27 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.72 ENG SMAD4
28 positive regulation of chondrocyte differentiation GO:0032332 9.72 ACVRL1 BMP6
29 cellular response to BMP stimulus GO:0071773 9.72 ACVRL1 BMP6 BMPR2 GDF2 SMAD4
30 positive regulation of cartilage development GO:0061036 9.71 BMPR2 GDF2
31 endocardial cushion morphogenesis GO:0003203 9.71 ACVRL1 ENG
32 ventricular trabecula myocardium morphogenesis GO:0003222 9.71 ENG TGFBR1
33 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.71 ENG SMAD4
34 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 GDF2 TGFBR1
35 positive regulation of SMAD protein import into nucleus GO:0060391 9.71 BMP6 SMAD4 TGFBR1
36 activin receptor signaling pathway GO:0032924 9.71 ACVRL1 BMPR2 GDF2 TGFBR1
37 endothelial cell activation GO:0042118 9.7 SMAD4 TGFBR1
38 positive regulation of cellular component movement GO:0051272 9.7 TGFBR1 VEGFA
39 negative regulation of DNA biosynthetic process GO:2000279 9.7 ACVRL1 BMPR2 GDF2
40 response to transforming growth factor beta GO:0071559 9.69 ENG SMAD4
41 retina vasculature development in camera-type eye GO:0061298 9.69 ACVRL1 BMPR2
42 coronary artery morphogenesis GO:0060982 9.69 TGFBR1 VEGFA
43 lymphangiogenesis GO:0001946 9.69 ACVRL1 BMPR2 SOX18
44 artery development GO:0060840 9.68 ACVRL1 BMPR2
45 dorsal aorta morphogenesis GO:0035912 9.68 ACVRL1 ENG
46 positive regulation of axon extension involved in axon guidance GO:0048842 9.68 BMPR2 VEGFA
47 endocardial cell differentiation GO:0060956 9.67 SMAD4 SOX18
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 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 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 for Telangiectasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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