MCID: TLN003
MIFTS: 51

Telangiectasis

Categories: Cardiovascular diseases

Aliases & Classifications for Telangiectasis

MalaCards integrated aliases for Telangiectasis:

Name: Telangiectasis 12 43 15 71
Telangiectasia 12 74 29 54 15

Classifications:



External Ids:

Disease Ontology 12 DOID:1272
MeSH 43 D013684
NCIt 49 C28194
UMLS 71 C0039446

Summaries for Telangiectasis

MalaCards based summary : Telangiectasis, also known as telangiectasia, is related to coats disease and arterial tortuosity syndrome. An important gene associated with Telangiectasis is ACVRL1 (Activin A Receptor Like Type 1), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and liver, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 74 Telangiectasias, also known as spider veins, are small dilated blood vessels that can occur near 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 961)
# Related Disease Score Top Affiliating Genes
1 coats disease 33.4 VEGFA NDP CTD
2 arterial tortuosity syndrome 32.5 TGFBR1 FBN1 ELN
3 autosomal recessive disease 31.5 H2AC18 ERCC6 CCR6 ATM
4 angiodysplasia 31.3 VEGFA ENG ACVRL1
5 retinal vascular disease 31.2 VEGFA NDP H2AC18
6 pulmonary hypertension 30.8 VEGFA TGFBR1 SMAD4 ENG BMPR2 BMP6
7 pulmonary arteriovenous malformation 30.8 ENG ACVRL1
8 scleroderma, familial progressive 30.8 FBN1 FBL CENPB BMP6
9 aneurysm 30.8 TGFBR1 FBN1 ELN
10 venous insufficiency 30.7 VEGFA NDP ELN
11 heritable pulmonary arterial hypertension 30.6 GDF2 ENG BMPR2 ACVRL1
12 arteriovenous malformations of the brain 30.6 VEGFA OR2AG1 GDF2 ENG ACVRL1
13 varicose veins 30.6 VEGFA FBN1 ELN
14 hereditary hemorrhagic telangiectasia 30.5 VEGFA TGFBR1 SMAD4 GDF2 ENG BMPR2
15 pulmonary hypertension, primary, 1 30.5 ENG BMPR2 BMP6 ACVRL1
16 arteriovenous malformation 30.5 VEGFA TGFBR1 ENG BMPR2 ACVRL1
17 xeroderma pigmentosum, complementation group a 30.5 H2AC18 ERCC6 ATM
18 peripheral nervous system disease 30.4 VEGFA H2AC18 ERCC6 CCR6
19 aortic aneurysm 30.4 TGFBR1 SMAD4 FBN1 ELN
20 vascular disease 30.4 VEGFA ENG ELN BMPR2 BMP6 ACVRL1
21 hypotrichosis 30.3 VEGFA SOX18 H2AC18 ERCC6 CCR6
22 systemic scleroderma 30.3 H2AC18 FBN1 FBL ELN CENPB CCR6
23 hepatopulmonary syndrome 30.3 VEGFA GDF2 ENG BMPR2 ACVRL1
24 marfan syndrome 30.3 TGFBR1 FBN1 ELN BMP6
25 limited scleroderma 30.2 FBL CENPB CCR6 BMPR2
26 portal hypertension 30.2 VEGFA ELN BMPR2
27 aortic aneurysm, familial thoracic 1 30.2 TGFBR1 SMAD4 FBN1 ELN
28 exanthem 30.2 VEGFA H2AC18 CCR6
29 rheumatic disease 30.1 H2AC18 CENPB CCR6 BMP6
30 aortic valve insufficiency 30.1 TGFBR1 FBN1 ELN
31 eye disease 30.1 VEGFA NDP H2AC18 FBN1 ERCC6 CCR6
32 osteonecrosis 30.0 VEGFA ENG BMP6
33 heart disease 30.0 VEGFA SMAD4 H2AC18 FBN1 ENG ELN
34 hutchinson-gilford progeria syndrome 30.0 H2AC18 ERCC6 ELN ATM
35 pancreatic adenocarcinoma 30.0 VEGFA TGFBR1 SMAD4 BMP6 ATM
36 aortic disease 29.9 TGFBR1 SMAD4 FBN1 ELN
37 vein disease 29.9 VEGFA FBL CCR6
38 intracranial aneurysm 29.9 TGFBR1 ENG ELN
39 lung cancer susceptibility 3 29.9 VEGFA TGFBR1 SMAD4 H2AC18 CCR6 BMP6
40 dyskeratosis congenita 29.9 H2AC18 FBL ERCC6 ATM
41 pleural disease 29.9 VEGFA H2AC18 CCR6
42 hepatic vascular disease 29.9 VEGFA FBL CCR6 BMPR2
43 optic nerve disease 29.8 VEGFA ERCC6 ELN CCR6
44 lynch syndrome 29.7 SMAD4 H2AC18 ERCC6 ATM
45 pulmonary fibrosis, idiopathic 29.7 VEGFA TGFBR1 SMAD4 ELN CCR6 BMP6
46 loeys-dietz syndrome 29.6 TGFBR1 SMAD4 H2AC18 FBN1 ELN ACVRL1
47 hair disease 29.6 VEGFA SOX18 H2AC18 ERCC6 CCR6
48 connective tissue disease 29.1 VEGFA H2AC18 FBN1 FBL ERCC6 ELN
49 hypotrichosis-lymphedema-telangiectasia syndrome 12.7
50 ataxia-telangiectasia-like disorder 1 12.7

Graphical network of the top 20 diseases related to Telangiectasis:



Diseases related to Telangiectasis

Symptoms & Phenotypes for Telangiectasis

MGI Mouse Phenotypes related to Telangiectasis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 ACVRL1 ATM BMPR2 CCR6 ENG FBN1
2 growth/size/body region MP:0005378 10.15 ACVRL1 ATM BMP6 BMPR2 CENPB ENG
3 embryo MP:0005380 10.06 ACVRL1 ATM BMPR2 ENG FBL FBN1
4 integument MP:0010771 9.97 ATM BMPR2 ENG ERCC6 FBN1 SMAD4
5 nervous system MP:0003631 9.9 ACVRL1 ATM BMPR2 CCR6 ENG ERCC6
6 muscle MP:0005369 9.86 ACVRL1 BMPR2 ENG ERCC6 FBN1 SMAD4
7 normal MP:0002873 9.61 ACVRL1 BMPR2 CCR6 CENPB ENG SMAD4
8 skeleton MP:0005390 9.28 BMP6 BMPR2 ERCC6 FBN1 GDF2 NDP

Drugs & Therapeutics for Telangiectasis

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

(show top 50) (show all 250)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Mecasermin Approved, Investigational Phase 4 68562-41-4
4
Clonidine Approved Phase 4 4205-90-7 2803
5
Petrolatum Approved, Investigational Phase 4 8009-03-8
6
Polidocanol Approved Phase 4 9002-92-0
7
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
8
Amantadine Approved Phase 4 768-94-5 2130
9
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
10
Metformin Approved Phase 4 657-24-9 14219 4091
11
Metronidazole Approved Phase 4 443-48-1 4173
12
Azelaic acid Approved Phase 4 123-99-9 2266
13
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
14
Bevacizumab Approved, Investigational Phase 4 216974-75-3
15
Aminolevulinic acid Approved Phase 4 106-60-5 137
16
Pseudoephedrine Approved Phase 4 90-82-4 7028
17
Ephedrine Approved Phase 4 299-42-3 9294
18
Phenylephrine Approved Phase 4 59-42-7 6041
19
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
20 Contraceptive Agents Phase 4
21 Estradiol 17 beta-cypionate Phase 4
22 Estradiol 3-benzoate Phase 4
23 Sympatholytics Phase 4
24 Hormones Phase 4
25 Hormone Antagonists Phase 4
26 Adrenergic alpha-2 Receptor Agonists Phase 4
27 Calcineurin Inhibitors Phase 4
28 glucocorticoids Phase 4
29 Antiparkinson Agents Phase 4
30 Hypoglycemic Agents Phase 4
31 Brimonidine Tartrate Phase 4 70359-46-5
32 Emollients Phase 4
33 Halobetasol Phase 4
34 Angiogenesis Inhibitors Phase 4
35 Adrenergic Agonists Phase 4
36 Nasal Decongestants Phase 4
37 Vasoconstrictor Agents Phase 4
38 Mydriatics Phase 4
39
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
40
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
41
Tranexamic Acid Approved Phase 3 1197-18-8 5526
42
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
43
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
44
Propranolol Approved, Investigational Phase 3 525-66-6 4946
45 Vaccines Phase 3
46 Soy Bean Phase 3
47 Antifibrinolytic Agents Phase 3
48 Coagulants Phase 3
49 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
50 Gastrointestinal Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 234)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Polidocanol Versus Glucose For Sclerotherapy Treatment Of Telangiectasia Of The Lower Limbs: Protocol For A Randomized, Controlled Clinical Trial Completed NCT02657252 Phase 4 Glucose;Polidocanol with Glucose
3 A Randomized Prospective Study of Endoscopy Bipolar Eletrocoagulation and Argon Plasma Coagulation of Chronic Rectal Bleeding From Radiation Telangiectasias Completed NCT00725244 Phase 4
4 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
6 An Exploratory, Multicenter, Investigator-blinded, Active-controlled Study to Investigate the Efficacy of Topical Azelaic Acid (AzA)15% Gel Twice Daily or Metronidazole Topical Gel 1% Once Daily, Plus Anti-inflammatory Dose Doxycycline (40mg) Once Daily in Subjects With Moderate Papulopustular Rosacea Completed NCT00855595 Phase 4 Azelaic acid (Finacea, BAY39-6251);Metronidazole (Metrogel);Doxycycline (Oracea)
7 A Clinical Evaluation of the Treatment of Lower Extremity Spider Veins Using a Dual Wavelength Laser Emitting 532 nm and 1064 nm Laser Energy Completed NCT01362192 Phase 4
8 Finacea 15% and Brimonidine 0.33% Gel in the Treatment of Rosacea - A Pilot Study Completed NCT02147691 Phase 4 Azelaic acid 15%;Brimonidine 0.33%
9 Treatment of Hypertrophic Scars Using Fractional Laser and Fractional Laser-assisted Topical Corticosteroid Delivery Completed NCT02487212 Phase 4 0.05% Clobetasol propionate;Petrolatum gel
10 Phase 4 Study of Proactive Treatment of Tacrolimus Ointment for Adult Facial Seborrheic Dermatitis Completed NCT01591070 Phase 4 Tacrolimus;Tacrolimus
11 A Randomized, Double-blind Study to Evaluate the Efficacy of Ammonium Lactate Lotion 12% (Lac-hydrin®) and Halobetasol Propionate Ointment 0.05% (Ultravate®) in the Treatment and Maintenance of Psoriasis. Completed NCT01111123 Phase 4 Lac-Hydrin lotion (ammonium lactate lotion 12%) ; UItravate ointment (halobetasol propionate ointment 0.05%);Lac-Hydrin lotion (ammonium lactate lotion 12%); placebo ointment
12 Topical Brimonidine Reduces IPL-induced Erythema Without Affecting Efficacy: a Randomized Controlled Trial in Patients With Facial Telangiectasias Completed NCT02761174 Phase 4 Brimonidine
13 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
14 Photodynamic Therapy for Papulopustular Rosacea Recruiting NCT02075671 Phase 4 Aminolevulinic acid topical solution 20%
15 NOrth American Study for the Treatment of Recurrent epIstaxis With DoxycycLine: The NOSTRIL Trial Recruiting NCT04167085 Phase 4 Doxycycline
16 Pilot Study to Evaluate Vbeam® Prima Pulsed Dye Laser (PDL) Treatment and RHOFADE® (Oxymetazoline HCL, 1% Cream) for Erythematotelangiectatic Rosacea Recruiting NCT04153188 Phase 4 Oxymetazoline HCL 1% Cream
17 Treatment of Photodamaged Skin of the décolleté With Fractional Laser, Radio-frequency Microneedling, and Photodynamic Therapy Recruiting NCT03573076 Phase 4
18 Topical Timolol for the Treatment of Benign Vascular Periocular Lesions Withdrawn NCT01250457 Phase 4 topical Timolol
19 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
20 Does Avastin Change Evolution in Juxtafoveal Telangiectasias? Unknown status NCT00406380 Phase 3 Bevacizumab
21 Long Term Outcomes of a Multicentre Controlled Clinical Trial of Breast Irradiation Using Intensity-Modulated Radiation Therapy Unknown status NCT01803139 Phase 3
22 A Randomised Comparison of Breast Conservation With or Without Lumpectomy Radiotherapy Boost Unknown status NCT00138814 Phase 3
23 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
24 Efficacy of Tranexamic Acid Taken Orally in Patients With Hereditary Hemorrhagic Telangiectasia Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
25 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3 Intravitreal Injection of Bevacizumab (1.25 mg/0.05ml)
26 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
27 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome. Beneficial or Iatrogenic Effects. Completed NCT00355108 Phase 3 tranexamic acid
28 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Completed NCT03518398 Phase 3
29 Comparison of the Cosmetic Outcome of Hypofractionated Versus Normofractionated Intensity Modulated Radiotherapy (IMRT) in Treatment of Breast Cancer: The KOSIMA Trial Completed NCT01403779 Phase 3
30 A Phase III Study of Adjuvant Radiation Therapy in Early Breast Cancer Comparing the Use of Breast Intensity Modulated Radiation Therapy (IMRT) to Conventional Wedge Technique Completed NCT00187343 Phase 3
31 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03319849 Phase 3
32 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03316300 Phase 3
33 Comparative Multicenter Randomized Study of Aflibercept Versus Placebo in Macular Telangiectasia Type 1 Recruiting NCT03845049 Phase 3 Aflibercept Injection [Eylea];SHAM injection
34 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
35 Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients With Ataxia Telangiectasia Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
36 Multicenter Randomized Controlled Trial on the Interest of Intravitreal Injections of Anti-VEGF as Initial and Adjuvant Treatment in Coats Disease Recruiting NCT03940690 Phase 3 Anti-VEGF injections of bevacizumab
37 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study Active, not recruiting NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
38 Randomized Double Blind Study to Evaluate the Effect of Low Dose Pazopanib on Bleeding Due to Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT03850964 Phase 2, Phase 3 Pazopanib;Placebo oral capsule
39 Study of the Efficacy of Propranolol for the Management of Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients Not yet recruiting NCT04113187 Phase 3 Propranolol treatment;Placebo
40 Evaluation of the Therapeutic Effect of Platelet Rich Plasma (PRP) in Periorbital Hyperpigmentation(POH) Not yet recruiting NCT03862118 Phase 3
41 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
42 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
43 Efficacy and Safety of Intralesional Triamcinolone Acetonide in Vitiligo: A Prospective, Double-Blind Randomized Controlled Trial Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
44 A Randomized Double Blind Placebo Controlled Trial of Intranasal Submucosal Bevacizumab in Hereditary Hemorrhagic Telangiectasia Completed NCT01314274 Phase 2 Bevacizumab;NaCl
45 Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile Ectasia Completed NCT00004327 Phase 2 octreotide
46 A Phase 2 Multicenter Randomized Clinical Trial of Ciliary Neurotrophic Factor (CNTF) for Macular Telangiectasia Type 2 (MacTel) Completed NCT01949324 Phase 2
47 Ranibizumab in Idiopathic Macular Telangiectasia, Type 2. A Prospective Interventional Non-randomized Study Comparing the Efficacy and Safety of Intravitreal Ranibizumab in Type 2 Idiopathic Macular Telangiectasia. Completed NCT00504400 Phase 2 Intravitreal injection ranibizumab
48 High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal Telangiectasia [HD-LIPT] Completed NCT01205035 Phase 2 ranibizumab 2.0mg
49 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - Randomized Trial Versus Placebo Completed NCT02484716 Phase 2 Timolol nasal spray;Placebo nasal spray
50 Efficacy and Safety of Bevacizumab for the Treatment Hemorrhagic Hereditary Telangiectasia (HHT) Associated With Severe Hepatic Vascular Malformations. Phase II Study. Completed NCT00843440 Phase 2 Bevacizumab

Search NIH Clinical Center for Telangiectasis

Cochrane evidence based reviews: telangiectasis

Genetic Tests for Telangiectasis

Genetic tests related to Telangiectasis:

# Genetic test Affiliating Genes
1 Telangiectasia 29

Anatomical Context for Telangiectasis

MalaCards organs/tissues related to Telangiectasis:

40
Breast, Skin, Liver, T Cells, Brain, Lung, Endothelial

Publications for Telangiectasis

Articles related to Telangiectasis:

(show top 50) (show all 12009)
# Title Authors PMID Year
1
Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation. 54 61
20236665 2010
2
Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells. 54 61
20135064 2010
3
Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm. 54 61
20141966 2010
4
Impaired recruitment of HHT-1 mononuclear cells to the ischaemic heart is due to an altered CXCR4/CD26 balance. 54 61
19762327 2010
5
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. 54 61
19767588 2009
6
Endoglin haploinsufficiency reduces radiation-induced fibrosis and telangiectasia formation in mouse kidneys. 54 61
19576647 2009
7
Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia. 54 61
19357124 2009
8
Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH. 54 61
19015642 2009
9
[Syndrome of premature ageing in ataxia-telangiectasia patients]. 54 61
19799357 2009
10
ATM gene variants in patients with idiopathic perifoveal telangiectasia. 54 61
18502988 2008
11
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. 54 61
18498373 2008
12
Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia. 54 61
18312453 2008
13
Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. 54 61
18156574 2008
14
[Analysis of molecular background of hereditary haemorrhagic telangiectasia--Rendu-Osler-Weber disease--preliminary results]. 54 61
19205515 2008
15
Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia. 54 61
17576210 2007
16
Generation of a floxed allele of the mouse Endoglin gene. 54 61
17506087 2007
17
Therapeutic action of tranexamic acid in hereditary haemorrhagic telangiectasia (HHT): regulation of ALK-1/endoglin pathway in endothelial cells. 54 61
17264955 2007
18
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. 54 61
16542389 2006
19
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 54 61
16470787 2006
20
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. 54 61
16429404 2006
21
A clue for telangiectasis in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. 54 61
16902284 2006
22
Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions. 54 61
15993872 2005
23
Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. 54 61
16059938 2005
24
Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. 54 61
15521985 2004
25
No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia. 54 61
15520401 2004
26
Endoglin promotes endothelial cell proliferation and TGF-beta/ALK1 signal transduction. 54 61
15385967 2004
27
Ataxia-telangiectasia, an evolving phenotype. 54 61
15279807 2004
28
Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. 54 61
15115879 2004
29
Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 54 61
15065824 2004
30
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 54 61
15031030 2004
31
Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. 54 61
14972453 2004
32
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 54 61
14684682 2003
33
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. 54 61
12920067 2003
34
Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene. 54 61
12882767 2003
35
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. 54 61
12673790 2003
36
[The relationship between ATM gene silence inducing apoptosis susceptibility and abnormal CDK activity]. 54 61
12697104 2003
37
Using a "non uniform pulse sequence" can improve selective coagulation with a Nd:YAG laser (1.06 microm) thanks to Met-hemoglobin absorption: a clinical study on blue leg veins. 54 61
12561051 2003
38
Genetics of pulmonary hypertension: from bench to bedside. 54 61
12358355 2002
39
[ATM and Cancer]. 54 61
12513844 2002
40
Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). 54 61
11773580 2002
41
Genetic aspects of pulmonary arterial hypertension. 54 61
11817654 2001
42
Pathogenesis of telangiectasia in scleroderma. 54 61
11316039 2000
43
Endoglin expression on human microvascular endothelial cells association with betaglycan and formation of higher order complexes with TGF-beta signalling receptors. 54 61
10951214 2000
44
A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. 54 61
10899246 2000
45
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. 54 61
10864201 2000
46
Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. 54 61
10625534 2000
47
Genotype-phenotype relationships in ataxia-telangiectasia and variants. 54 61
9497252 1998
48
Endoglin gene polymorphism as a risk factor for sporadic intracerebral hemorrhage. 54 61
9153532 1997
49
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 54 61
8640225 1996
50
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? 54 61
8728706 1996

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 VEGFA TGFBR1 SOX18 SMAD4 GDF2 FBN1
2
Show member pathways
13.15 TGFBR1 SMAD4 GDF2 CCR6 BMPR2 BMP6
3 12.06 TGFBR1 SMAD4 ENG BMPR2 BMP6
4 11.95 TGFBR1 SMAD4 BMPR2 BMP6
5 11.91 VEGFA TGFBR1 SMAD4 BMPR2 ATM
6 11.72 TGFBR1 SMAD4 ENG ACVRL1
7
Show member pathways
11.62 TGFBR1 SMAD4 BMPR2
8
Show member pathways
11.58 SMAD4 BMPR2 BMP6
9 11.53 TGFBR1 SMAD4 FBN1 BMPR2 BMP6
10 11.51 VEGFA SMAD4 ENG
11 11.5 VEGFA TGFBR1 SMAD4 BMP6 ATM
12 11.45 TGFBR1 SMAD4 ENG
13 11.38 VEGFA TGFBR1 SMAD4
14 11.32 VEGFA SMAD4 BMPR2
15 10.65 TGFBR1 SMAD4 FBN1 ENG
16 10.61 SMAD4 BMPR2
17
Show member pathways
10.45 TGFBR1 SMAD4 GDF2 BMPR2 ACVRL1

GO Terms for Telangiectasis

Cellular components related to Telangiectasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.26 TGFBR1 ENG BMPR2 ACVRL1
2 cell surface GO:0009986 9.17 VEGFA TGFBR1 NDP ENG CCR6 BMPR2

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 VEGFA SOX18 SMAD4 GDF2 ENG BMPR2
2 positive regulation of transcription, DNA-templated GO:0045893 10.14 TGFBR1 SOX18 SMAD4 NDP GDF2 ACVRL1
3 positive regulation of gene expression GO:0010628 10.04 VEGFA TGFBR1 GDF2 ERCC6 ENG BMP6
4 in utero embryonic development GO:0001701 9.99 VEGFA TGFBR1 SOX18 SMAD4 ACVRL1
5 response to hypoxia GO:0001666 9.97 VEGFA SMAD4 ATM ACVRL1
6 positive regulation of angiogenesis GO:0045766 9.96 VEGFA GDF2 ENG ACVRL1
7 heart development GO:0007507 9.95 TGFBR1 SOX18 FBN1 ENG ATM ACVRL1
8 negative regulation of cell growth GO:0030308 9.92 SMAD4 GDF2 BMPR2 ACVRL1
9 transforming growth factor beta receptor signaling pathway GO:0007179 9.91 TGFBR1 SMAD4 BMPR2 ACVRL1
10 angiogenesis GO:0001525 9.91 VEGFA TGFBR1 SOX18 GDF2 ENG ACVRL1
11 cellular response to growth factor stimulus GO:0071363 9.87 TGFBR1 BMPR2 ACVRL1
12 vasculogenesis GO:0001570 9.87 VEGFA SOX18 GDF2 ENG
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.85 TGFBR1 FBN1 ACVRL1
14 SMAD protein signal transduction GO:0060395 9.85 SMAD4 GDF2 BMP6
15 cellular iron ion homeostasis GO:0006879 9.85 SMAD4 GDF2 BMP6
16 kidney development GO:0001822 9.85 VEGFA TGFBR1 SMAD4 FBN1 BMP6
17 outflow tract morphogenesis GO:0003151 9.83 VEGFA SOX18 ELN BMPR2
18 negative regulation of endothelial cell proliferation GO:0001937 9.82 TGFBR1 GDF2 ACVRL1
19 ventricular septum morphogenesis GO:0060412 9.82 TGFBR1 SMAD4 BMPR2
20 ovarian follicle development GO:0001541 9.81 VEGFA SMAD4 ATM
21 outflow tract septum morphogenesis GO:0003148 9.79 SMAD4 ENG BMPR2
22 branching involved in blood vessel morphogenesis GO:0001569 9.79 VEGFA GDF2 ENG
23 artery morphogenesis GO:0048844 9.77 VEGFA TGFBR1 ENG
24 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.76 TGFBR1 BMPR2 ACVRL1
25 positive regulation of endothelial cell differentiation GO:0045603 9.75 GDF2 BMP6 ACVRL1
26 negative regulation of DNA biosynthetic process GO:2000279 9.73 GDF2 BMPR2 ACVRL1
27 positive regulation of SMAD protein signal transduction GO:0060391 9.72 TGFBR1 SMAD4 BMP6
28 cellular response to BMP stimulus GO:0071773 9.72 SMAD4 GDF2 BMPR2 BMP6 ACVRL1
29 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 TGFBR1 GDF2
30 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.71 SMAD4 ENG
31 positive regulation of vascular permeability GO:0043117 9.71 VEGFA BMP6
32 response to transforming growth factor beta GO:0071559 9.71 SMAD4 ENG
33 lymphangiogenesis GO:0001946 9.71 SOX18 BMPR2 ACVRL1
34 positive regulation of cellular component movement GO:0051272 9.7 VEGFA TGFBR1
35 endothelial cell activation GO:0042118 9.7 TGFBR1 SMAD4
36 coronary artery morphogenesis GO:0060982 9.7 VEGFA TGFBR1
37 negative regulation of cell-cell adhesion mediated by cadherin GO:2000048 9.69 VEGFA BMP6
38 retina vasculature development in camera-type eye GO:0061298 9.69 BMPR2 ACVRL1
39 endocardial cell differentiation GO:0060956 9.69 SOX18 SMAD4
40 artery development GO:0060840 9.68 BMPR2 ACVRL1
41 dorsal aorta morphogenesis GO:0035912 9.68 ENG ACVRL1
42 positive regulation of axon extension involved in axon guidance GO:0048842 9.67 VEGFA BMPR2
43 activin receptor signaling pathway GO:0032924 9.67 TGFBR1 GDF2 BMPR2 ACVRL1
44 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.66 TGFBR1 ENG
45 venous blood vessel development GO:0060841 9.65 BMPR2 ACVRL1
46 positive regulation of BMP signaling pathway GO:0030513 9.65 SMAD4 GDF2 ENG BMPR2 ACVRL1
47 negative regulation of adherens junction organization GO:1903392 9.63 VEGFA BMP6
48 endocardial cushion to mesenchymal transition GO:0090500 9.63 ENG ACVRL1
49 BMP signaling pathway GO:0030509 9.63 SMAD4 GDF2 ENG BMPR2 BMP6 ACVRL1
50 lymphatic endothelial cell differentiation GO:0060836 9.58 SOX18 BMPR2 ACVRL1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.76 VEGFA NDP GDF2 BMP6
2 I-SMAD binding GO:0070411 9.51 TGFBR1 SMAD4
3 BMP binding GO:0036122 9.49 ENG BMPR2
4 extracellular matrix constituent conferring elasticity GO:0030023 9.48 FBN1 ELN
5 type II transforming growth factor beta receptor binding GO:0005114 9.43 TGFBR1 ENG
6 transforming growth factor beta binding GO:0050431 9.43 TGFBR1 ENG ACVRL1
7 BMP receptor activity GO:0098821 9.4 BMPR2 ACVRL1
8 activin receptor activity, type I GO:0016361 9.37 TGFBR1 ACVRL1
9 activin binding GO:0048185 9.33 TGFBR1 ENG ACVRL1
10 transforming growth factor beta receptor activity, type I GO:0005025 9.32 TGFBR1 ACVRL1
11 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.13 TGFBR1 BMPR2 ACVRL1
12 transforming growth factor beta-activated receptor activity GO:0005024 8.8 TGFBR1 BMPR2 ACVRL1

Sources for Telangiectasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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