MCID: TLN003
MIFTS: 52

Telangiectasis malady

Categories: Cardiovascular diseases

Aliases & Classifications for Telangiectasis

Aliases & Descriptions for Telangiectasis:

Name: Telangiectasis 12 42 14 69
Telangiectasia 12 29 52 14

Classifications:



External Ids:

Disease Ontology 12 DOID:1272
MeSH 42 D013684
NCIt 47 C28194
UMLS 69 C0039446

Summaries for Telangiectasis

MalaCards based summary : Telangiectasis, also known as telangiectasia, is related to coats disease and idiopathic juxtafoveal retinal telangiectasia. An important gene associated with Telangiectasis is ACVRL1 (Activin A Receptor Like Type 1), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and retina, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

Wikipedia : 71 Telangiectasias /tɛlˌæn.dʒiː.ɛkˈteɪ.zi.ə/, also known as spider veins or angioectasias, are... more...

Related Diseases for Telangiectasis

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

(show top 50) (show all 75)
id Related Disease Score Top Affiliating Genes
1 coats disease 11.7
2 idiopathic juxtafoveal retinal telangiectasia 11.0
3 reynolds syndrome 10.8
4 idiopathic macular telangiectasia type 1 10.8
5 idiopathic macular telangiectasia type 3 10.8
6 retinitis 10.5
7 pulmonary surfactant protein b, deficiency of 10.2 ACVRL1 ENG
8 pulmonary venoocclusive disease 1 10.2 ACVRL1 BMPR2 ENG
9 x-linked leigh syndrome 10.1 ACVRL1 ENG SMAD4
10 joubert syndrome and related disorders 10.1 ACVRL1 BMPR2 ENG
11 ovarian serous adenofibroma 10.1 ACVRL1 BMPR2
12 weyers ulnar ray/oligodactyly syndrome 10.1 ACVRL1 ENG SOX18
13 epididymis cancer 10.1 ENG TGFB1
14 acromesomelic dysplasia, maroteaux type 10.0 ACVRL1 SMAD4 SOX18
15 ataxia 10.0
16 glomerulosclerosis, focal segmental, 7 10.0 ENG SMAD4 TGFB1
17 enamel hypoplasia cataract hydrocephaly 10.0 BMPR2 TGFB1 TGFBR1
18 anhidrosis 10.0 BMP6 TGFB1
19 tooth erosion 10.0 ACVRL1 ENG VEGFA
20 laryngeal adenoid cystic carcinoma 9.9 ENG VEGFA
21 hemorrhagic cystitis 9.9 BMP6 ENG TGFB1
22 mass syndrome 9.9 BMP6 TGFB1 TGFBR1
23 pulmonary arteriovenous fistulas 9.9
24 arteriovenous fistula 9.9
25 muscular dystrophy 9.9
26 crest syndrome 9.9
27 glycerol kinase deficiency, adult form 9.8 BMP6 ENG VEGFA
28 cerebritis 9.8
29 fiedler's myocarditis 9.8 BMPR2 TGFB1 VEGFA
30 stevens-johnson syndrome/toxic epidermal necrolysis 9.7 BMP6 TGFB1 VEGFA
31 pearson syndrome 9.7 SMAD4 TGFB1 VEGFA
32 choroiditis 9.7
33 aneurysm 9.7
34 pituitary infarct 9.6 ACVRL1 BMPR2 ENG TGFB1 VEGFA
35 sydenham chorea 9.6 ACVRL1 BMP6 BMPR2 ENG SMAD4 TGFB1
36 proctitis 9.6 AFP SMAD4 TGFB1 VEGFA
37 spasticity 9.6
38 esophagitis 9.6
39 filamentary keratitis 9.6
40 keratitis 9.6
41 urticaria pigmentosa 9.6
42 cavernous hemangioma 9.6
43 ataxia-telangiectasia 9.6
44 balanitis 9.6
45 eye disease 9.6
46 pseudoxanthoma elasticum 9.6
47 angioid streaks 9.6
48 paraplegia 9.6
49 moyamoya disease 9.6
50 balanitis xerotica obliterans 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:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.58 ATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.58 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.58 BMP6 SMAD4 TGFBR1 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.58 BMPR2 ACVRL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.58 BMP6 ATM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.58 SOX18
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.58 ATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.58 ACVRL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.58 BMP6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.58 TGFBR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.58 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.58 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.58 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.58 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.58 ACVRL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.58 TGFBR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.58 SOX18
18 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.58 SOX18
19 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.58 SOX18
20 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.58 ACVRL1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.58 BMP6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.58 SMAD4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.58 BMP6 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.58 ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.58 TGFBR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.58 BMPR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.58 SMAD4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.58 TGFBR1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.58 TGFBR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.58 ATM
31 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.58 SMAD4
32 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.58 SMAD4 ACVRL1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.58 SMAD4
34 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.58 BMP6
35 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.58 BMPR2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.58 SMAD4
37 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.58 ACVRL1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.58 SMAD4 ACVRL1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.58 SMAD4
40 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.58 BMP6 SOX18
41 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.58 SOX18
42 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.58 ATM
43 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.58 BMPR2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.58 SMAD4 ATM ACVRL1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.58 SOX18
46 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.58 TGFBR1 ATM BMPR2 ACVRL1 SOX18
47 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.58 TGFBR1
48 Decreased viability GR00173-A 9.97 BMPR2
49 Decreased viability GR00221-A-1 9.97 BMPR2 TGFBR1 ACVRL1
50 Decreased viability GR00221-A-2 9.97 ACVRL1
51 Decreased viability GR00221-A-3 9.97 ACVRL1 ATM BMPR2
52 Decreased viability GR00221-A-4 9.97 ATM BMPR2 TGFBR1 ACVRL1
53 Decreased viability GR00301-A 9.97 BMPR2
54 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 ATM BMPR2 TGFBR1

MGI Mouse Phenotypes related to Telangiectasis:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.3 VEGFA ACVRL1 ATM BMPR2 ENG GDF2
2 homeostasis/metabolism MP:0005376 10.24 ACVRL1 AFP ATM BMPR2 ENG GDF2
3 behavior/neurological MP:0005386 10.22 ACVRL1 AFP ATM BMPR2 ENG NDP
4 growth/size/body region MP:0005378 10.22 ACVRL1 ATM BMP6 BMPR2 ENG SMAD4
5 embryo MP:0005380 10.14 ACVRL1 ATM BMPR2 ENG SMAD4 TGFB1
6 mortality/aging MP:0010768 10.13 ACVRL1 AFP ATM BMPR2 ENG SMAD4
7 hematopoietic system MP:0005397 10.11 BMPR2 ENG SMAD4 TGFB1 TGFBR1 VEGFA
8 digestive/alimentary MP:0005381 10.09 ACVRL1 ENG SMAD4 SOX18 TGFB1 TGFBR1
9 immune system MP:0005387 10.08 ATM BMPR2 GDF2 SMAD4 SOX18 TGFB1
10 integument MP:0010771 10 ATM ENG SMAD4 SOX18 TGFB1 TGFBR1
11 nervous system MP:0003631 9.97 SMAD4 TGFB1 TGFBR1 VEGFA ACVRL1 ATM
12 muscle MP:0005369 9.95 ACVRL1 VEGFA BMPR2 ENG SMAD4 TGFB1
13 neoplasm MP:0002006 9.85 AFP ATM SMAD4 TGFB1 TGFBR1 VEGFA
14 normal MP:0002873 9.8 ACVRL1 BMPR2 ENG SMAD4 SOX18 TGFBR1
15 reproductive system MP:0005389 9.76 ATM BMP6 GDF2 NDP SMAD4 TGFB1
16 respiratory system MP:0005388 9.43 ACVRL1 BMPR2 ENG TGFB1 TGFBR1 VEGFA
17 skeleton MP:0005390 9.23 BMP6 BMPR2 GDF2 NDP SMAD4 TGFB1

Drugs & Therapeutics for Telangiectasis

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

(show top 50) (show all 221)
id 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 53477783
3
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
4
Polidocanol Approved Phase 4 9002-92-0
5
Amantadine Approved Phase 4 768-94-5 2130
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
8
Azelaic acid Approved Phase 4,Phase 3,Phase 2 123-99-9 2266
9
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 6447131 17753757
10
Tacrolimus Approved, Investigational Phase 4,Phase 2 104987-11-3 445643 439492
11
Aminolevulinic acid Approved Phase 4,Phase 3,Phase 2 106-60-5 137
12
Metformin Approved Phase 4 657-24-9 14219 4091
13
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
14
Menthol Approved Phase 4 2216-51-5 16666
15 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Adrenergic Agonists Phase 4,Phase 1,Phase 2
17 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 1,Phase 2
18 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2
19 Analgesics Phase 4,Phase 2
20 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2
22 Contraceptive Agents Phase 4
23 Estradiol 17 beta-cypionate Phase 4
24 Estradiol 3-benzoate Phase 4
25 Estradiol valerate Phase 4 979-32-8
26 Estrogens Phase 4,Phase 2
27 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
28 Hormones Phase 4,Phase 3,Phase 2,Phase 1
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
30 insulin Phase 4
31 Insulin, Globin Zinc Phase 4
32 Mitogens Phase 4,Phase 1
33 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Polyestradiol phosphate Phase 4
36 Sympatholytics Phase 4,Phase 3
37 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
38 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
40 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
41 Immunosuppressive Agents Phase 4,Phase 2,Phase 1
42 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
43 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Analgesics, Non-Narcotic Phase 4,Phase 2
45 Antiparkinson Agents Phase 4
46 Antiviral Agents Phase 4,Phase 2
47 Dopamine Agents Phase 4
48 Anti-Infective Agents, Local Phase 4
49 Chlorhexidine gluconate Phase 4
50 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 159)
id Name Status NCT ID Phase
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
2 Polidocanol Versus Glucose Treatment of Telangiectasia Trial Completed NCT02657252 Phase 4
3 Trial of Endoscopy Bipolar and Argon of Chronic Rectal Bleeding From Radiation Telangiectasias Completed NCT00725244 Phase 4
4 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659 Phase 4
5 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4
6 Treatment of Lower Extremity Spider Veins With Excel V Completed NCT01362192 Phase 4
7 Ammonium Lactate Lotion 12% (Lac-hydrin®) and Halobetasol Propionate Ointment 0.05% (Ultravate®) in the Treatment and Maintenance of Psoriasis Completed NCT01111123 Phase 4
8 A Multicenter Trial of a Topical Medication for Papulopustular Rosacea Applied Twice Daily Versus Once Daily Completed NCT00417937 Phase 4
9 Bilateral Comparison Study of Elidel 1% and Hylatopic Plus Emollient Foam for the Treatment of Subjects With Atopic Dermatitis Completed NCT01202149 Phase 4
10 Safety and Efficacy of Pimecrolimus Cream 1% in Mild to Moderate Head and Neck Atopic Dermatitis (AD) Patients Completed NCT00121316 Phase 4
11 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4
12 Topical Brimonidine to Reduce Inflammation After IPL-treatment in Patients With Facial Telangiectasias Recruiting NCT02761174 Phase 4
13 Photodynamic Therapy for Papulopustular Rosacea Recruiting NCT02075671 Phase 4
14 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4
15 Effect of Avastin in Juxtafoveal Telangiectasias Unknown status NCT00406380 Phase 3
16 Long Term Results of the Canadian Breast IMRT Study Unknown status NCT01803139 Phase 3
17 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3
18 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3
19 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3
20 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3
21 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Completed NCT00355108 Phase 3
22 Trial of Methyl Aminolevulinate Plus Aktilite in Facial Photodamage Completed NCT00629317 Phase 3
23 Study of the Safety and Efficacy of OmegaD Softgels in the Treatment of Dry Eye Disease Completed NCT02980224 Phase 3
24 Safety & Effectiveness of Clobex Spray, Followed by Calcitriol Ointment in Management of Plaque Psoriasis Completed NCT00658788 Phase 3
25 Isotretinoin in Papular-Pustular Rosacea Completed NCT00882531 Phase 3
26 Safety and Efficacy of Azelaic Acid Foam, 15 % in Papulopustular Rosacea Completed NCT01555463 Phase 3
27 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3
28 Comparison of the Cosmetic Outcome of Hypofractionated Versus Normofractionated IMRT in Treatment of Breast Cancer Recruiting NCT01403779 Phase 3
29 Nadolol Versus Propranolol in Children With Infantile Hemangiomas Recruiting NCT02505971 Phase 3
30 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT Not yet recruiting NCT02963129 Phase 3
31 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3
32 Atralin Gel for the Treatment of Rosacea Terminated NCT01125930 Phase 3
33 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3
34 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2
35 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2
36 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2
37 Efficacy and Safety of Intralesional Corticosterois in the Treatment of Vitiligo Unknown status NCT01766609 Phase 2
38 An Evaluation of PDI-320 in Comparison to Its Monads in Adults With Rosacea Unknown status NCT01828177 Phase 2
39 High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal Telangiectasia Completed NCT01205035 Phase 2
40 Ranibizumab to Treat Type 2 Idiopathic Macular Telangiectasia (RAMA-Trial) Completed NCT00504400 Phase 2
41 Treatment of Idiopathic Perifoveal Telangiectasia (IPT) With Open-Label Anecortave Acetate (15mg.). Completed NCT00211328 Phase 2
42 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
43 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2
44 Intranasal Submucosal Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01314274 Phase 2
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
46 Treatment of Congenital Telangiectasia (Coat's Disease) With Open-label Anecortave Acetate (15mg.) Completed NCT00211315 Phase 2
47 North American Study of Epistaxis in HHT Completed NCT01408030 Phase 2
48 Comparison Between Two Different Parameters of Argon Plasma Coagulation in the Treatment of Chronic Radiation Proctitis: Historical Control Trial. Completed NCT02104271 Phase 2
49 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2
50 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2

Search NIH Clinical Center for Telangiectasis

Cochrane evidence based reviews: telangiectasis

Genetic Tests for Telangiectasis

Genetic tests related to Telangiectasis:

id Genetic test Affiliating Genes
1 Telangiectasia 29

Anatomical Context for Telangiectasis

MalaCards organs/tissues related to Telangiectasis:

39
Skin, Liver, Retina, Colon, Lung, T Cells, Spinal Cord

Publications for Telangiectasis

Articles related to Telangiectasis:

(show top 50) (show all 193)
id Title Authors Year
1
Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. ( 25892364 )
2015
2
Telangiectasis in CREST syndrome and systemic sclerosis: correlation of clinical and pathological features with response to pulsed dye laser treatment. ( 23494102 )
2014
3
Retinal telangiectasis detected during a vision screening examination in a child with hearing loss led to the diagnosis of facioscapulohumeral muscular dystrophy. ( 24924285 )
2014
4
Occlusive idiopathic juxtafoveolar retinal telangiectasis type 4. ( 23769792 )
2013
5
Intravitreal bevacizumab in the treatment of idiopathic juxtafoveal telangiectasis type i. ( 24269459 )
2013
6
Idiopathic macular telangiectasia type 2 (idiopathic juxtafoveolar retinal telangiectasis type 2A, Mac Tel 2). ( 24160729 )
2013
7
Fundus autofluorescence patterns in type 2A idiopathic juxtafoveolar retinal telangiectasis. ( 21786266 )
2012
8
Re: Retinal pigment epitheliopathy, macular telangiectasis, and intraretinal crystal deposits in HIV-positive patients receiving ritonavir. ( 22277908 )
2012
9
Idiopathic juxtafoveal retinal telangiectasis and retinal macroaneurysm treated with indocyanine green dye-enhanced photocoagulation. ( 23241941 )
2012
10
Clinical features of idiopathic juxtafoveal telangiectasis in Koreans. ( 21860567 )
2011
11
MRI findings in giant pontine capillary telangiectasis associated with a developmental venous anomaly. ( 22191296 )
2011
12
Retinal pigment epitheliopathy, macular telangiectasis, and intraretinal crystal deposits in HIV-positive patients receiving ritonavir. ( 20966821 )
2011
13
Novel mutation in PANK2 associated with retinal telangiectasis. ( 20974629 )
2011
14
Idiopathic juxtafoveolar retinal telangiectasis: a current review. ( 20844678 )
2010
15
Obliterative idiopathic juxtafoveolar telangiectasis: a 25-year follow-up. ( 25390131 )
2010
16
Intravitreal triamcinolone for management of idiopathic juxtafoveolar telangiectasis. ( 20606875 )
2010
17
Integrated clinical evaluation of Type 2A idiopathic juxtafoveolar retinal telangiectasis. ( 19881399 )
2010
18
Fatal rupture of pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasis and severe PAH. ( 20956122 )
2009
19
Pulmonary arteriovenous fistula in hereditary hemorrhagic telangiectasis. ( 19763660 )
2009
20
A case of subretinal neovascularization treated with intravitreal ranibizumab in a patient with idiopathic juxtafoveal retinal telangiectasis. ( 19503767 )
2009
21
Resolution of macular edema in idiopathic juxtafoveal telangiectasis using PDT. ( 19205501 )
2009
22
Intravitreal bevacizumab compared with photodynamic therapy with verteporfin for group 2a parafoveal retinal telangiectasis. ( 18711474 )
2008
23
Bladder wall telangiectasis causing life-threatening haematuria in ataxia-telangiectasia: a new observation. ( 18394116 )
2008
24
Early morphological changes and functional abnormalities in group 2A idiopathic juxtafoveolar retinal telangiectasis using spectral domain optical coherence tomography and microperimetry. ( 18703550 )
2008
25
Intravitreal pegaptanib reduces fluorescein leakage in idiopathic parafoveal telangiectasis. ( 18711476 )
2008
26
Juxtafoveolar telangiectasis associated with CREST syndrome. ( 18716957 )
2008
27
Macular edema associated with latanoprost use in a patient with idiopathic juxtafoveal retinal telangiectasis. ( 18369705 )
2008
28
Re: Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis. ( 18301049 )
2008
29
Optical coherence tomography findings in idiopathic juxtafoveal retinal telangiectasis. ( 17120013 )
2007
30
Idiopathic juxtafoveolar retinal telangiectasis in monozygotic twins. ( 18024833 )
2007
31
Full-thickness macular hole formation in idiopathic parafoveal telangiectasis. ( 17420701 )
2007
32
Subretinal neovascular membrane associated with type 2a idiopathic juxtafoveolar telangiectasis in pseudoxanthoma elasticum. ( 16988836 )
2007
33
Optical coherence tomography characteristics of group 2A idiopathic parafoveal telangiectasis. ( 18046227 )
2007
34
Intravitreal bevacizumab for macular edema from idiopathic juxtafoveal retinal telangiectasis. ( 17396701 )
2007
35
Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis. ( 17218917 )
2007
36
Intravitreal bevacizumab (Avastin) for the treatment of bilateral acquired juxtafoveal retinal telangiectasis associated with choroidal neovascular membrane. ( 17693997 )
2007
37
Intravitreal bevacizumab (Avastin) associated with the regression of subretinal neovascularization in idiopathic juxtafoveolar retinal telangiectasis. ( 17136357 )
2007
38
Centripetal retinal capillary proliferation in idiopathic parafoveolar telangiectasis. ( 18024824 )
2007
39
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
40
Morphologic features of group 2A idiopathic juxtafoveolar retinal telangiectasis in three-dimensional optical coherence tomography. ( 16876527 )
2006
41
A clue for telangiectasis in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. ( 16902284 )
2006
42
Iris microhaemangiomas and idiopathic juxtafoveolar retinal telangiectasis. ( 17083546 )
2006
43
Idiopathic juxtafoveal retinal telangiectasis: new findings by ultrahigh-resolution optical coherence tomography. ( 16343625 )
2006
44
Optical coherence tomography in group 2A idiopathic juxtafoveolar retinal telangiectasis. ( 17030708 )
2006
45
Photodynamic therapy for subretinal neovascularization in type 2A idiopathic juxtafoveolar telangiectasis. ( 16462869 )
2006
46
Treatment of CNVM secondary to idiopathic juxtafoveal retinal telangiectasis by transpupillary thermotherapy. ( 15767092 )
2005
47
Parafoveal retinal telangiectasis: light and electron microscopy studies. 1977. ( 16049361 )
2005
48
Use of intravitreal triamcinolone acetonide injection in unilateral idiopathic juxtafoveal telangiectasis. ( 16181291 )
2005
49
Optical coherence tomography in group 2A idiopathic juxtafoveolar telangiectasis. ( 16355952 )
2005
50
RPE atrophy following photodynamic therapy in type 2A idiopathic parafoveal telangiectasis. ( 15829751 )
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 46)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 ACVRL1 ATM BMP6 BMPR2 GDF2 SMAD4
2
Show member pathways
13.55 ACVRL1 BMP6 BMPR2 SMAD4 TGFB1 TGFBR1
3
Show member pathways
13.31 ACVRL1 BMP6 BMPR2 GDF2 TGFB1 TGFBR1
4
Show member pathways
13.19 ACVRL1 BMP6 BMPR2 GDF2 SMAD4 TGFB1
5 12.58 SMAD4 TGFB1 TGFBR1 VEGFA
6
Show member pathways
12.39 BMPR2 SMAD4 TGFB1 TGFBR1
7 12.35 ATM SMAD4 TGFB1 TGFBR1
8 12.11 SMAD4 TGFB1 TGFBR1 VEGFA
9
Show member pathways
12.02 SMAD4 TGFB1 TGFBR1 VEGFA
10
Show member pathways
12.01 ATM SMAD4 TGFB1 TGFBR1
11 11.99 ATM BMPR2 SMAD4 TGFBR1 VEGFA
12 11.98 AFP TGFB1 VEGFA
13 11.98 SMAD4 TGFB1 TGFBR1
14 11.91 ATM SMAD4 TGFB1
15
Show member pathways
11.85 SMAD4 TGFB1 TGFBR1
16 11.82 BMP6 ENG TGFB1
17 11.82 AFP BMP6 BMPR2 SMAD4 TGFB1 TGFBR1
18 11.81 SMAD4 TGFB1 TGFBR1 VEGFA
19
Show member pathways
11.8 SMAD4 TGFB1 TGFBR1
20 11.77 ENG TGFB1 TGFBR1
21 11.77 ACVRL1 ENG SMAD4 TGFB1 TGFBR1
22 11.76 AFP BMP6 BMPR2 ENG SMAD4 TGFB1
23 11.67 SMAD4 TGFB1 TGFBR1
24
Show member pathways
11.67 BMP6 BMPR2 SMAD4
25
Show member pathways
11.66 BMPR2 SMAD4 TGFB1 TGFBR1
26
Show member pathways
11.65 SMAD4 TGFB1 TGFBR1
27 11.64 BMP6 BMPR2 SMAD4 TGFB1 TGFBR1
28 11.61 BMP6 TGFB1 VEGFA
29 11.61 ENG SMAD4 VEGFA
30 11.52 ENG SMAD4 TGFB1 TGFBR1
31 11.49 SMAD4 TGFB1 TGFBR1
32 11.47 TGFB1 TGFBR1 VEGFA
33 11.47 ATM BMP6 SMAD4 TGFB1 TGFBR1 VEGFA
34 11.44 BMPR2 SMAD4 VEGFA
35 11.44 SMAD4 TGFB1 TGFBR1 VEGFA
36
Show member pathways
11.4 SMAD4 TGFB1 TGFBR1
37 11.21 SMAD4 TGFB1 TGFBR1
38 11.14 TGFB1 TGFBR1 VEGFA
39 11.1 ENG SMAD4 TGFBR1
40 11.04 BMPR2 SMAD4
41 11.04 ATM SMAD4
42 11.02 TGFB1 TGFBR1
43 11.01 SMAD4 TGFBR1
44 10.93 SMAD4 TGFB1
45 10.7 BMPR2 SMAD4
46
Show member pathways
10.53 ACVRL1 BMPR2 GDF2 SMAD4 TGFB1 TGFBR1

GO Terms for Telangiectasis

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 AFP BMP6 BMPR2 ENG GDF2 NDP
2 cell surface GO:0009986 9.17 ACVRL1 BMPR2 ENG NDP TGFB1 TGFBR1
3 transforming growth factor beta receptor complex GO:0070022 9.16 ENG TGFBR1

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

(show top 50) (show all 77)
id Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.99 ACVRL1 SMAD4 SOX18 TGFBR1 VEGFA
2 angiogenesis GO:0001525 9.97 ACVRL1 ENG GDF2 SOX18 TGFBR1 VEGFA
3 response to hypoxia GO:0001666 9.95 ACVRL1 ATM SMAD4 TGFB1 VEGFA
4 positive regulation of angiogenesis GO:0045766 9.94 ACVRL1 ENG GDF2 VEGFA
5 kidney development GO:0001822 9.94 BMP6 SMAD4 TGFBR1 VEGFA
6 positive regulation of protein phosphorylation GO:0001934 9.93 ENG TGFB1 VEGFA
7 cell cycle arrest GO:0007050 9.92 ATM TGFB1 TGFBR1
8 anterior/posterior pattern specification GO:0009952 9.91 BMPR2 SMAD4 TGFBR1
9 transforming growth factor beta receptor signaling pathway GO:0007179 9.91 ACVRL1 SMAD4 TGFB1 TGFBR1
10 negative regulation of cell growth GO:0030308 9.91 ACVRL1 BMPR2 GDF2 SMAD4 TGFB1
11 cellular response to mechanical stimulus GO:0071260 9.9 BMP6 ENG TGFB1
12 positive regulation of epithelial cell proliferation GO:0050679 9.88 BMP6 TGFB1 VEGFA
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.87 ACVRL1 TGFB1 TGFBR1
14 positive regulation of osteoblast differentiation GO:0045669 9.87 BMP6 BMPR2 GDF2
15 cellular iron ion homeostasis GO:0006879 9.87 BMP6 GDF2 SMAD4
16 signal transduction by protein phosphorylation GO:0023014 9.86 ACVRL1 BMPR2 TGFBR1
17 outflow tract morphogenesis GO:0003151 9.86 BMPR2 SOX18 VEGFA
18 ovarian follicle development GO:0001541 9.85 ATM SMAD4 VEGFA
19 positive regulation of epithelial to mesenchymal transition GO:0010718 9.84 SMAD4 TGFB1 TGFBR1
20 positive regulation of bone mineralization GO:0030501 9.84 BMP6 BMPR2 TGFB1
21 ventricular septum morphogenesis GO:0060412 9.83 BMPR2 SMAD4 TGFBR1
22 branching involved in blood vessel morphogenesis GO:0001569 9.83 ENG GDF2 VEGFA
23 SMAD protein signal transduction GO:0060395 9.83 AFP BMP6 GDF2 SMAD4 TGFB1
24 negative regulation of endothelial cell proliferation GO:0001937 9.82 ACVRL1 GDF2 TGFBR1
25 outflow tract septum morphogenesis GO:0003148 9.81 BMPR2 ENG SMAD4
26 artery morphogenesis GO:0048844 9.8 ENG TGFBR1 VEGFA
27 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.8 ACVRL1 BMPR2 TGFBR1
28 vasculogenesis GO:0001570 9.8 ENG GDF2 SOX18 TGFB1 VEGFA
29 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.79 ENG SMAD4 TGFB1
30 negative regulation of blood vessel endothelial cell migration GO:0043537 9.77 ACVRL1 GDF2 TGFB1
31 pathway-restricted SMAD protein phosphorylation GO:0060389 9.76 GDF2 TGFB1 TGFBR1
32 activin receptor signaling pathway GO:0032924 9.76 ACVRL1 BMPR2 GDF2 TGFBR1
33 positive regulation of collagen biosynthetic process GO:0032967 9.75 ENG TGFB1
34 positive regulation of protein complex assembly GO:0031334 9.75 TGFB1 VEGFA
35 female gonad development GO:0008585 9.75 ATM SMAD4
36 positive regulation of blood vessel endothelial cell migration GO:0043536 9.75 TGFB1 VEGFA
37 negative regulation of DNA biosynthetic process GO:2000279 9.75 ACVRL1 BMPR2 GDF2
38 negative regulation of DNA replication GO:0008156 9.74 GDF2 TGFB1
39 positive regulation of chondrocyte differentiation GO:0032332 9.74 ACVRL1 BMP6
40 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.74 TGFB1 VEGFA
41 negative regulation of endothelial cell migration GO:0010596 9.74 ACVRL1 GDF2
42 positive regulation of cartilage development GO:0061036 9.74 BMPR2 GDF2
43 endocardial cushion morphogenesis GO:0003203 9.74 ACVRL1 ENG
44 ventricular trabecula myocardium morphogenesis GO:0003222 9.74 ENG TGFBR1
45 lymphangiogenesis GO:0001946 9.74 ACVRL1 BMPR2 SOX18
46 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.73 ENG SMAD4
47 positive regulation of cellular component movement GO:0051272 9.73 TGFBR1 VEGFA
48 endothelial cell activation GO:0042118 9.73 SMAD4 TGFBR1
49 positive regulation of endothelial cell differentiation GO:0045603 9.73 ACVRL1 BMP6 GDF2
50 response to cholesterol GO:0070723 9.72 TGFB1 TGFBR1

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.96 ENG NDP SMAD4 TGFB1 VEGFA
2 protein heterodimerization activity GO:0046982 9.88 BMP6 SMAD4 SOX18 TGFB1 VEGFA
3 protein serine/threonine kinase activity GO:0004674 9.87 ACVRL1 ATM BMPR2 TGFBR1
4 cytokine activity GO:0005125 9.65 BMP6 GDF2 NDP TGFB1 VEGFA
5 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.61 ACVRL1 BMPR2 TGFBR1
6 activin binding GO:0048185 9.55 ACVRL1 ENG
7 I-SMAD binding GO:0070411 9.54 SMAD4 TGFBR1
8 transforming growth factor beta receptor binding GO:0005160 9.54 BMP6 GDF2 TGFB1
9 type I transforming growth factor beta receptor binding GO:0034713 9.52 ENG TGFB1
10 BMP binding GO:0036122 9.51 BMPR2 ENG
11 transforming growth factor beta binding GO:0050431 9.5 ACVRL1 ENG TGFBR1
12 transforming growth factor beta-activated receptor activity GO:0005024 9.49 ACVRL1 TGFBR1
13 BMP receptor activity GO:0098821 9.46 ACVRL1 BMPR2
14 transforming growth factor beta receptor activity, type I GO:0005025 9.4 ACVRL1 TGFBR1
15 growth factor activity GO:0008083 9.35 BMP6 GDF2 NDP TGFB1 VEGFA
16 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.33 ACVRL1 BMPR2 TGFBR1
17 type II transforming growth factor beta receptor binding GO:0005114 8.8 ENG TGFB1 TGFBR1

Sources for Telangiectasis

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