MCID: TLN003
MIFTS: 51

Telangiectasis

Categories: Cardiovascular diseases

Aliases & Classifications for Telangiectasis

MalaCards integrated aliases for Telangiectasis:

Name: Telangiectasis 12 44 15 70
Telangiectasia 12 73 29 54 15

Classifications:



External Ids:

Disease Ontology 12 DOID:1272
MeSH 44 D013684
NCIt 50 C28194
SNOMED-CT 67 112641009
UMLS 70 C0039446

Summaries for Telangiectasis

MalaCards based summary : Telangiectasis, also known as telangiectasia, is related to telangiectasia, hereditary hemorrhagic, type 2 and coats disease. 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 Polyestradiol phosphate and Estradiol 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 : 73 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 964)
# Related Disease Score Top Affiliating Genes
1 telangiectasia, hereditary hemorrhagic, type 2 32.6 ENG ACVRL1
2 coats disease 32.3 VEGFA NDP CTD
3 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 32.2 TGFBR1 SMAD4 OR2AG1 GDF2 ENG BMPR2
4 angiodysplasia 31.0 VEGFA ENG ACVRL1
5 juvenile polyposis syndrome 30.9 SMAD4 BMPR2 ACVRL1
6 retinal vascular disease 30.8 VEGFA NDP H2AC18
7 arteriovenous malformations of the brain 30.6 VEGFA OR2AG1 ENG ACVRL1
8 crest syndrome 30.6 H2AC18 FBL CENPB
9 pulmonary hypertension 30.5 VEGFA TGFBR1 SMAD4 GDF2 ENG BMPR2
10 generalized juvenile polyposis/juvenile polyposis coli 30.5 SMAD4 ENG
11 scleroderma, familial progressive 30.4 FBN1 FBL CENPB BMP6
12 xeroderma pigmentosum, complementation group a 30.4 H2AC18 ERCC6 ATM
13 varicose veins 30.4 VEGFA FBN1 ELN
14 heritable pulmonary arterial hypertension 30.4 GDF2 ENG BMPR2 ACVRL1
15 hereditary hemorrhagic telangiectasia 30.3 VEGFA TGFBR1 SMAD4 GDF2 ENG BMPR2
16 venous insufficiency 30.3 VEGFA NDP ELN
17 aortic aneurysm 30.3 TGFBR1 SMAD4 FBN1 ELN
18 pulmonary arteriovenous malformation 30.3 ENG BMPR2 ACVRL1
19 lymphangioma 30.3 VEGFA H2AC18 ERCC6
20 systemic scleroderma 30.3 H2AC18 FBN1 FBL ELN CENPB
21 atrial heart septal defect 30.2 FBN1 ELN BMPR2 BMP10
22 pulmonary hypertension, primary, 1 30.1 SMAD4 ENG BMPR2 ACVRL1
23 arterial tortuosity syndrome 30.1 TGFBR1 FBN1 ELN
24 hepatopulmonary syndrome 30.1 VEGFA GDF2 ENG BMPR2 ACVRL1
25 hemopericardium 30.1 FBN1 ELN
26 marfan syndrome 30.1 TGFBR1 FBN1 ELN BMP6
27 aneurysm 30.0 TGFBR1 SMAD4 FBN1 ELN
28 portal hypertension 30.0 VEGFA ELN BMPR2
29 vascular disease 30.0 VEGFA ENG ELN BMPR2 BMP6 ACVRL1
30 aortic aneurysm, familial thoracic 1 30.0 TGFBR1 SMAD4 FBN1 ELN
31 autosomal recessive cerebellar ataxia 30.0 H2AC18 ERCC6 ATM
32 aortic valve insufficiency 29.9 TGFBR1 FBN1 ELN
33 arteriovenous malformation 29.8 VEGFA TGFBR1 SMAD4 ENG BMPR2 ACVRL1
34 deficiency anemia 29.8 SMAD4 H2AC18 ERCC6 ENG BMP6
35 skin disease 29.8 VEGFA H2AC18 ERCC6 ELN BMP6
36 osteonecrosis 29.8 VEGFA ENG BMP6
37 intracranial aneurysm 29.8 TGFBR1 ENG ELN
38 pulmonary fibrosis, idiopathic 29.8 VEGFA TGFBR1 SMAD4 ELN BMP6
39 hutchinson-gilford progeria syndrome 29.7 H2AC18 ERCC6 ELN ATM
40 aortic disease 29.7 TGFBR1 SMAD4 FBN1 ELN
41 aortic dissection 29.7 TGFBR1 SMAD4 FBN1 ELN
42 heart disease 29.7 VEGFA SMAD4 H2AC18 FBN1 ENG ELN
43 heart valve disease 29.7 H2AC18 FBN1 ELN
44 hair disease 29.7 VEGFA SOX18 H2AC18 ERCC6
45 lynch syndrome 29.6 SMAD4 H2AC18 ERCC6 ATM
46 loeys-dietz syndrome 29.5 TGFBR1 SMAD4 H2AC18 FBN1 ELN ACVRL1
47 connective tissue disease 29.3 VEGFA TGFBR1 H2AC18 FBN1 FBL ERCC6
48 hypotrichosis-lymphedema-telangiectasia syndrome 11.6
49 ataxia-telangiectasia-like disorder 1 11.6
50 nijmegen breakage syndrome 11.6

Graphical network of the top 20 diseases related to Telangiectasis:



Diseases related to Telangiectasis

Symptoms & Phenotypes for Telangiectasis

MGI Mouse Phenotypes related to Telangiectasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 ACVRL1 ATM BMP10 BMPR2 ENG FBN1
2 growth/size/body region MP:0005378 10.17 ACVRL1 ATM BMP10 BMP6 BMPR2 CENPB
3 embryo MP:0005380 10.07 ACVRL1 ATM BMP10 BMPR2 ENG FBL
4 hematopoietic system MP:0005397 10.03 ACVRL1 ATM BMP10 BMPR2 ENG ERCC6
5 integument MP:0010771 9.85 ATM BMP10 BMPR2 ENG ERCC6 FBN1
6 muscle MP:0005369 9.61 ACVRL1 BMP10 BMPR2 ENG ERCC6 FBN1
7 normal MP:0002873 9.28 ACVRL1 BMP10 BMPR2 CENPB ENG SMAD4

Drugs & Therapeutics for Telangiectasis

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

(show top 50) (show all 164)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved Phase 4 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Clonidine Approved Phase 4 4205-90-7 2803
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
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
8
Amantadine Approved Phase 4 768-94-5 2130
9 insulin Phase 4
10 Estradiol 3-benzoate Phase 4
11 Estradiol 17 beta-cypionate Phase 4
12 Sympatholytics Phase 4
13 Contraceptive Agents Phase 4
14 Insulin, Globin Zinc Phase 4
15 Sclerosing Solutions Phase 4
16 Antihypertensive Agents Phase 4
17 Adrenergic Agents Phase 4
18 Neurotransmitter Agents Phase 4
19 Hypoglycemic Agents Phase 4
20 Adrenergic alpha-Agonists Phase 4
21 Adrenergic Agonists Phase 4
22 Analgesics Phase 4
23 Dermatologic Agents Phase 4
24 Brimonidine Tartrate Phase 4 70359-46-5
25 Dopamine Agents Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Antiparkinson Agents Phase 4
28 Anti-Infective Agents, Local Phase 4
29 Disinfectants Phase 4
30
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
31
Petrolatum Approved, Investigational Phase 3 8009-03-8
32
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
33
Tranexamic Acid Approved Phase 3 1197-18-8 5526
34
Bevacizumab Approved, Investigational Phase 3 216974-75-3
35
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
36
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
37
Propranolol Approved, Investigational Phase 3 525-66-6 4946
38 Antifibrinolytic Agents Phase 3
39 Coagulants Phase 3
40 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
41 Vaccines Phase 3
42 Soy Bean Phase 3
43 Pharmaceutical Solutions Phase 3
44 Angiogenesis Inhibitors Phase 3
45 Anti-Arrhythmia Agents Phase 3
46 Adrenergic Antagonists Phase 3
47 Adrenergic beta-Antagonists Phase 3
48 Antineoplastic Agents, Immunological Phase 3
49 Mitogens Phase 3
50 Endothelial Growth Factors Phase 3

Interventional clinical trials:

(show top 50) (show all 155)
# 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 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
5 Topical Brimonidine Reduces IPL-induced Erythema Without Affecting Efficacy: a Randomized Controlled Trial in Patients With Facial Telangiectasias Completed NCT02761174 Phase 4 Brimonidine
6 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
7 Intranasal Bevacizumab for HHT-Related Epistaxis Completed NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
8 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
9 Does Avastin Change Evolution in Juxtafoveal Telangiectasias? Unknown status NCT00406380 Phase 3 Bevacizumab
10 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
11 Randomized Double Blind Study to Evaluate the Effect of Low Dose Pazopanib on Bleeding Due to Hereditary Hemorrhagic Telangiectasia Unknown status NCT03850964 Phase 2, Phase 3 Pazopanib;Placebo oral capsule
12 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome. Beneficial or Iatrogenic Effects. Completed NCT00355108 Phase 3 tranexamic acid
13 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.
14 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
15 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
16 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study Completed NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
17 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3 Intravitreal Injection of Bevacizumab (1.25 mg/0.05ml)
18 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
19 Comparative Multicenter Randomized Study of Aflibercept Versus Placebo in Macular Telangiectasia Type 1 Recruiting NCT03845049 Phase 3 Aflibercept Injection [Eylea];SHAM injection
20 Study of the Efficacy of Propranolol for the Management of Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients Recruiting NCT04113187 Phase 3 Propranolol treatment;Placebo
21 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
22 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
23 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Active, not recruiting NCT03319849 Phase 3
24 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Active, not recruiting NCT03316300 Phase 3
25 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
26 Effects of Nicotinamide Riboside (Vitamin B3) in Patients With Ataxia Telangiectasia. Unknown status NCT03962114 Phase 2
27 An Uncontrolled, Pilot-study Assessing the Efficacy of Octreotide Long-acting Release to Decrease Transfusion Requirements and Endoscopy Frequency in Patients With Rendu-Osler-Weber and Gastrointestinal Bleeding Unknown status NCT02874326 Phase 2 Octreotide LAR
28 Phase 2 Study of Non-damaging Retinal Laser Therapy Using PASCAL Laser With Endpoint Management Software for Macular Diseases Unknown status NCT01975103 Phase 2
29 Effects of PRK 124 (0.125%) Lotion in Acne Rosacea Completed NCT00580723 Phase 1, Phase 2
30 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
31 A Phase 2, Open-label, Multi-centre Study to Assess the Efficacy and Safety of Intravitreal THR-317 for the Treatment of Macular Telangiectasia Type 1 (MacTel 1) Completed NCT03669393 Phase 2 THR-317 8mg
32 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
33 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
34 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
35 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
36 Efficacy and Safety of a 0.1% Tacrolimus Nasal Ointment as a Treatment for Epistaxis in Hemorrhagic Hereditary Telangiectasia (HHT) - A Double Blind, Randomized, Placebo-controlled, Multicenter Trial Completed NCT03152019 Phase 2 Protopic® (Tacrolimus) 0.1% ointment;Placebo
37 Treatment of Idiopathic Perifoveal Telangiectasia (IPT) With Open-Label Anecortave Acetate (15mg.). Completed NCT00211328 Phase 2 anecortave acetate
38 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01402531 Phase 2 Submucosal Bevacizumab
39 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01397695 Phase 2 Bevacizumab
40 A Phase 2 Multicenter Randomized Clinical Trial of Ciliary Neurotrophic Factor (CNTF) for Macular Telangiectasia Type 2 (MacTel) Completed NCT01949324 Phase 2
41 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
42 North American Study of Epistaxis in HHT (NOSE) Completed NCT01408030 Phase 2 Sterile saline;Bevacizumab;Estriol;Tranexamic Acid
43 High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal Telangiectasia [HD-LIPT] Completed NCT01205035 Phase 2 ranibizumab 2.0mg
44 A Randomized Double Blind Placebo Controlled Trial of Intranasal Submucosal Bevacizumab in Hereditary Hemorrhagic Telangiectasia Completed NCT01314274 Phase 2 Bevacizumab;NaCl
45 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
46 Treatment of Congenital Telangiectasia (Coat's Disease) With Open-label Anecortave Acetate (15mg.) Completed NCT00211315 Phase 2 anecortave acetate
47 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
48 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy With Intravitreal Injection of Lucentis (Ranibizumab Injection) Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
49 Comparison Between Two Different Parameters of Argon Plasma Coagulation in the Treatment of Chronic Radiation Proctitis: Historical Control Trial. Completed NCT02104271 Phase 2
50 Tacrolimus Crossover Trial for Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT04646356 Phase 2 Tacrolimus capsule (low-dose);Placebo

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, Brain, Endothelial, Prostate, Colon

Publications for Telangiectasis

Articles related to Telangiectasis:

(show top 50) (show all 12772)
# 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
Impaired recruitment of HHT-1 mononuclear cells to the ischaemic heart is due to an altered CXCR4/CD26 balance. 54 61
19762327 2010
4
Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm. 61 54
20141966 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. 61 54
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
[Syndrome of premature ageing in ataxia-telangiectasia patients]. 61 54
19799357 2009
9
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
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. 61 54
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]. 61 54
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. 61 54
16542389 2006
19
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 61 54
16470787 2006
20
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. 61 54
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. 61 54
16902284 2006
22
Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions. 61 54
15993872 2005
23
Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. 61 54
16059938 2005
24
Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. 61 54
15521985 2004
25
No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia. 61 54
15520401 2004
26
Endoglin promotes endothelial cell proliferation and TGF-beta/ALK1 signal transduction. 61 54
15385967 2004
27
Ataxia-telangiectasia, an evolving phenotype. 61 54
15279807 2004
28
Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. 61 54
15115879 2004
29
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 61 54
15031030 2004
30
Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 61 54
15065824 2004
31
Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. 61 54
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]. 61 54
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. 61 54
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. 61 54
10625534 2000
47
Genotype-phenotype relationships in ataxia-telangiectasia and variants. 61 54
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? 61 54
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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 VEGFA TGFBR1 SOX18 SMAD4 GDF2 FBN1
2
Show member pathways
13.16 TGFBR1 SMAD4 GDF2 BMPR2 BMP6 BMP10
3
Show member pathways
12.94 TGFBR1 GDF2 FBN1 ELN BMP6 BMP10
4
Show member pathways
12.36 TGFBR1 SMAD4 BMPR2 BMP10
5
Show member pathways
12.1 TGFBR1 GDF2 BMP6 BMP10 ATM
6 12.09 TGFBR1 SMAD4 ENG BMPR2 BMP6
7 12.01 TGFBR1 SMAD4 BMPR2 BMP6
8 11.99 VEGFA TGFBR1 SMAD4 BMPR2 ATM
9 11.79 VEGFA TGFBR1 SMAD4
10 11.76 TGFBR1 SMAD4 ENG ACVRL1
11
Show member pathways
11.65 TGFBR1 SMAD4 BMPR2
12 11.63 TGFBR1 SMAD4 FBN1 BMPR2 BMP6
13
Show member pathways
11.62 FBN1 ELN BMP10
14
Show member pathways
11.61 SMAD4 BMPR2 BMP6
15 11.55 VEGFA SMAD4 ENG
16 11.48 TGFBR1 SMAD4 ENG
17 11.41 VEGFA TGFBR1 SMAD4
18 11.33 VEGFA SMAD4 BMPR2 BMP10
19 11.17 VEGFA TGFBR1 SMAD4 BMP6 BMP10 ATM
20 10.98 SMAD4 BMPR2 BMP10
21 10.91 GDF2 FBN1 ELN BMP6 BMP10
22 10.85 TGFBR1 SMAD4 FBN1 ENG
23 10.64 SMAD4 BMPR2
24
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 extracellular space GO:0005615 9.76 VEGFA NDP GDF2 FBN1 ENG BMPR2
2 extracellular matrix GO:0031012 9.56 VEGFA NDP FBN1 ELN
3 receptor complex GO:0043235 9.26 TGFBR1 ENG BMPR2 ACVRL1
4 cell surface GO:0009986 9.17 VEGFA TGFBR1 NDP ENG BMPR2 BMP10

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.2 VEGFA SOX18 SMAD4 GDF2 ENG BMPR2
2 positive regulation of transcription, DNA-templated GO:0045893 10.18 TGFBR1 SOX18 SMAD4 NDP GDF2 BMP10
3 positive regulation of gene expression GO:0010628 10.06 VEGFA TGFBR1 GDF2 ERCC6 ENG BMP6
4 in utero embryonic development GO:0001701 10.03 VEGFA TGFBR1 SOX18 SMAD4 ACVRL1
5 response to hypoxia GO:0001666 10 VEGFA SMAD4 ENG ATM ACVRL1
6 angiogenesis GO:0001525 9.99 VEGFA TGFBR1 SOX18 GDF2 ENG ACVRL1
7 positive regulation of angiogenesis GO:0045766 9.98 VEGFA GDF2 ENG ACVRL1
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.95 TGFBR1 SMAD4 ENG ACVRL1
9 heart development GO:0007507 9.95 TGFBR1 SOX18 FBN1 ENG BMP10 ATM
10 negative regulation of cell growth GO:0030308 9.92 SMAD4 GDF2 BMPR2 BMP10 ACVRL1
11 kidney development GO:0001822 9.91 VEGFA TGFBR1 SMAD4 FBN1 BMP6 BMP10
12 cellular response to growth factor stimulus GO:0071363 9.88 TGFBR1 BMPR2 ACVRL1
13 SMAD protein signal transduction GO:0060395 9.88 SMAD4 GDF2 BMP6 BMP10
14 vasculogenesis GO:0001570 9.88 VEGFA SOX18 GDF2 ENG
15 cellular iron ion homeostasis GO:0006879 9.87 SMAD4 GDF2 BMP6
16 cellular response to transforming growth factor beta stimulus GO:0071560 9.86 TGFBR1 FBN1 ACVRL1
17 ovarian follicle development GO:0001541 9.85 VEGFA SMAD4 ATM
18 outflow tract morphogenesis GO:0003151 9.84 VEGFA SOX18 ELN BMPR2
19 ventricular septum morphogenesis GO:0060412 9.83 TGFBR1 SMAD4 BMPR2
20 branching involved in blood vessel morphogenesis GO:0001569 9.83 VEGFA GDF2 ENG
21 outflow tract septum morphogenesis GO:0003148 9.82 SMAD4 ENG BMPR2
22 artery morphogenesis GO:0048844 9.82 VEGFA TGFBR1 ENG
23 negative regulation of endothelial cell migration GO:0010596 9.81 GDF2 BMP10 ACVRL1
24 positive regulation of endothelial cell differentiation GO:0045603 9.8 GDF2 BMP6 ACVRL1
25 negative regulation of endothelial cell proliferation GO:0001937 9.8 TGFBR1 GDF2 ENG ACVRL1
26 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.79 TGFBR1 BMPR2 ACVRL1
27 positive regulation of cartilage development GO:0061036 9.79 GDF2 BMPR2 BMP10
28 positive regulation of SMAD protein signal transduction GO:0060391 9.78 TGFBR1 SMAD4 BMP6
29 negative regulation of DNA biosynthetic process GO:2000279 9.77 GDF2 BMPR2 ACVRL1
30 cellular response to BMP stimulus GO:0071773 9.77 SMAD4 GDF2 BMPR2 BMP6 ACVRL1
31 pathway-restricted SMAD protein phosphorylation GO:0060389 9.74 TGFBR1 GDF2 BMP10
32 lymphangiogenesis GO:0001946 9.73 SOX18 BMPR2 ACVRL1
33 positive regulation of endothelial cell proliferation GO:0001938 9.73 VEGFA TGFBR1 GDF2 BMPR2 BMP6 ACVRL1
34 ventricular trabecula myocardium morphogenesis GO:0003222 9.72 TGFBR1 ENG
35 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.72 SMAD4 ENG
36 response to transforming growth factor beta GO:0071559 9.72 SMAD4 ENG
37 positive regulation of BMP signaling pathway GO:0030513 9.72 SMAD4 GDF2 ENG BMPR2 ACVRL1
38 positive regulation of vascular permeability GO:0043117 9.71 VEGFA BMP6
39 negative regulation of cell-cell adhesion mediated by cadherin GO:2000048 9.71 VEGFA BMP6
40 positive regulation of cellular component movement GO:0051272 9.71 VEGFA TGFBR1
41 endothelial cell activation GO:0042118 9.71 TGFBR1 SMAD4
42 artery development GO:0060840 9.71 BMPR2 ACVRL1
43 retina vasculature development in camera-type eye GO:0061298 9.7 BMPR2 ACVRL1
44 coronary artery morphogenesis GO:0060982 9.7 VEGFA TGFBR1
45 dorsal aorta morphogenesis GO:0035912 9.7 ENG ACVRL1
46 positive regulation of axon extension involved in axon guidance GO:0048842 9.69 VEGFA BMPR2
47 atrial cardiac muscle tissue morphogenesis GO:0055009 9.68 ENG BMP10
48 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.68 TGFBR1 ENG
49 endocardial cell differentiation GO:0060956 9.68 SOX18 SMAD4
50 venous blood vessel development GO:0060841 9.67 BMPR2 ACVRL1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.67 VEGFA GDF2 BMP6 BMP10
2 cytokine activity GO:0005125 9.65 VEGFA NDP GDF2 BMP6 BMP10
3 I-SMAD binding GO:0070411 9.52 TGFBR1 SMAD4
4 BMP binding GO:0036122 9.51 ENG BMPR2
5 transforming growth factor beta binding GO:0050431 9.5 TGFBR1 ENG ACVRL1
6 extracellular matrix constituent conferring elasticity GO:0030023 9.49 FBN1 ELN
7 type II transforming growth factor beta receptor binding GO:0005114 9.48 TGFBR1 ENG
8 BMP receptor activity GO:0098821 9.46 BMPR2 ACVRL1
9 activin receptor activity, type I GO:0016361 9.43 TGFBR1 ACVRL1
10 transforming growth factor beta receptor activity, type I GO:0005025 9.4 TGFBR1 ACVRL1
11 activin binding GO:0048185 9.33 TGFBR1 ENG ACVRL1
12 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.13 TGFBR1 BMPR2 ACVRL1
13 transforming growth factor beta-activated receptor activity GO:0005024 8.92 TGFBR1 ENG BMPR2 ACVRL1

Sources for Telangiectasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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