Aliases & Classifications for Angiomyolipoma

MalaCards integrated aliases for Angiomyolipoma:

Name: Angiomyolipoma 12 52 42 14 69
Angiomyolipoma of Kidney 69

Classifications:



External Ids:

Disease Ontology 12 DOID:3314
MeSH 42 D018207
NCIt 47 C3734
SNOMED-CT 64 19929002
UMLS 69 C0206633

Summaries for Angiomyolipoma

Disease Ontology : 12 A cell type benign neoplasm that from perivascular epithelioid cells.

MalaCards based summary : Angiomyolipoma, also known as angiomyolipoma of kidney, is related to lymphangioleiomyomatosis and kidney angiomyolipoma. An important gene associated with Angiomyolipoma is TSC2 (Tuberous Sclerosis 2), and among its related pathways/superpathways are ERK Signaling and Type I Interferon Signaling Pathways. The drugs Afinitor and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and breast, and related phenotypes are cellular and behavior/neurological

Wikipedia : 72 Angiomyolipomas are the most common benign tumour of the kidney. Although regarded as benign,... more...

Related Diseases for Angiomyolipoma

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

(show top 50) (show all 225)
id Related Disease Score Top Affiliating Genes
1 lymphangioleiomyomatosis 32.2 CCL26 TSC1 TSC2
2 kidney angiomyolipoma 12.1
3 hepatic angiomyolipoma 12.0
4 childhood kidney angiomyolipoma 11.8
5 tsc2 angiomyolipomas, renal, modifier of 11.7
6 epithelioid type angiomyolipoma 11.7
7 tuberous sclerosis-1 10.8
8 multiple endocrine neoplasia 1 10.8
9 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.8
10 telo2-related intellectual disability-neurodevelopmental disorder 10.8 ACTC1 DES
11 aortic aneurysm 10.8 ACTC1 DES
12 esophagus leiomyosarcoma 10.8 ACTC1 DES
13 spleen angiosarcoma 10.7 ACTC1 DES
14 myoma 10.7 ACTC1 DES
15 skin lipoma 10.7 ACTC1 DES
16 laryngeal neuroendocrine tumor 10.7 ACTC1 DES
17 buschke-ollendorff syndrome 10.7 TSC1 TSC2
18 uniparental disomy of chromosome 11 10.7 ACTC1 DES
19 myxoid leiomyosarcoma 10.7 ACTC1 DES
20 follicular infundibulum tumor 10.7 ACTC1 DES
21 clear cell adenocarcinoma 10.7 TSC1 TSC2
22 spindle cell liposarcoma 10.7 ACTC1 DES
23 neurofibroma of the esophagus 10.7 ACTC1 DES
24 juvenile xanthogranuloma 10.7 ACTC1 DES
25 short-rib thoracic dysplasia 12 10.7 ACTC1 DES
26 coronary restenosis 10.7 ACTC1 DES
27 secondary pulmonary hemosiderosis 10.6 ACTC1 DES
28 hepatitis 10.6
29 recombinant 8 syndrome 10.6 TSC1 TSC2
30 human t-cell leukemia virus type 1 10.6 ACTC1 TSC2
31 splenic manifestation of prolymphocytic leukemia 10.6 ACTC1 DES
32 nephrogenic adenoma of urinary bladder 10.6 ACTC1 DES
33 pyruvate kinase deficiency, muscle type 10.6 ACTC1 MTOR
34 pineal region yolk sac tumor 10.6 DES PGR
35 cutaneous leiomyosarcoma 10.6 ACTC1 PGR
36 plummer vinson syndrome 10.6 DES MTOR
37 glomangioma 10.6 ACTC1 DES
38 leiomyoma cutis 10.6 ACTC1 PGR
39 autonomic dysfunction 10.6 CCL26 TSC2
40 chronic salpingitis 10.5 DES ESR1
41 tuberous sclerosis 10.5
42 gastric signet ring cell adenocarcinoma 10.5 ACTC1 ESR1
43 buruli ulcer 10.5 TSC1 TSC2
44 vulvar squamous papilloma 10.5 DES ESR1
45 tietz albinism-deafness syndrome 10.4 MITF TYR
46 renal cell carcinoma 10.4
47 commad syndrome 10.4 MITF TYR
48 bartholin's gland benign neoplasm 10.4 ESR1 PGR
49 central nervous system organ benign neoplasm 10.4 ESR1 PGR
50 gallbladder leiomyoma 10.4 ESR1 PGR

Graphical network of the top 20 diseases related to Angiomyolipoma:



Diseases related to Angiomyolipoma

Symptoms & Phenotypes for Angiomyolipoma

MGI Mouse Phenotypes related to Angiomyolipoma:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 ACTC1 DES ESR1 KIT MITF MTOR
2 behavior/neurological MP:0005386 10.22 TSC1 TSC2 TYR DES ESR1 KIT
3 cardiovascular system MP:0005385 10.21 ACTC1 DES ESR1 KIT MTOR PGR
4 homeostasis/metabolism MP:0005376 10.19 ACTC1 DES ESR1 KIT MITF MTOR
5 embryo MP:0005380 10.14 ESR1 KIT MITF MTOR PGR TSC1
6 endocrine/exocrine gland MP:0005379 10.13 MTOR PGR TSC1 TSC2 TYR ESR1
7 mortality/aging MP:0010768 10.13 ACTC1 DES ESR1 KIT MITF MTOR
8 growth/size/body region MP:0005378 10.11 ACTC1 ESR1 KIT MITF MTOR TSC1
9 integument MP:0010771 10.02 ESR1 KIT MITF PGR TSC1 TSC2
10 muscle MP:0005369 9.95 ACTC1 DES ESR1 KIT MTOR PGR
11 normal MP:0002873 9.86 ACTC1 ESR1 KIT MITF MTOR PGR
12 limbs/digits/tail MP:0005371 9.85 ESR1 KIT MITF PGR TYR
13 neoplasm MP:0002006 9.85 ESR1 KIT PGR TSC1 TSC2 TYR
14 no phenotypic analysis MP:0003012 9.8 ESR1 KIT MITF MTOR PGR TYR
15 renal/urinary system MP:0005367 9.63 MTOR TSC1 TSC2 TYR ESR1 KIT
16 reproductive system MP:0005389 9.5 ESR1 KIT MITF PGR TSC1 TSC2
17 skeleton MP:0005390 9.17 KIT MITF MTOR PGR TSC1 TYR

Drugs & Therapeutics for Angiomyolipoma

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Afinitor 17 46 EVEROLIMUS Novartis March 2009

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

(show all 46)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
7 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Antimalarials Phase 4
11 Antiparasitic Agents Phase 4
12 Antiprotozoal Agents Phase 4
13
Propranolol Approved, Investigational Phase 2 525-66-6 4946
14
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
15
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
16
Somatostatin Approved Phase 2 38916-34-6, 51110-01-1 53481605
17
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
18
Menthol Approved Phase 2 2216-51-5 16666
19
Saracatinib Investigational Phase 2 379231-04-6
20 Adrenergic Agents Phase 2
21 Adrenergic Antagonists Phase 2
22 Adrenergic beta-Antagonists Phase 2
23 Angiogenesis Inhibitors Phase 2
24 Anti-Arrhythmia Agents Phase 2
25 Antihypertensive Agents Phase 2
26 Neurotransmitter Agents Phase 2
27 Vasodilator Agents Phase 2
28 Aromatase Inhibitors Phase 2
29 Estrogen Antagonists Phase 2
30 Estrogens Phase 2
31 Hormone Antagonists Phase 2
32 Hormones Phase 2
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
34 Steroid Synthesis Inhibitors Phase 2
35 Antineoplastic Agents, Hormonal Phase 2
36 Gastrointestinal Agents Phase 2
37 Analgesics Phase 2
38 Analgesics, Non-Narcotic Phase 2
39 Anti-Inflammatory Agents Phase 2
40 Anti-Inflammatory Agents, Non-Steroidal Phase 2
41 Antirheumatic Agents Phase 2
42 Cyclooxygenase 2 Inhibitors Phase 2
43 Cyclooxygenase Inhibitors Phase 2
44 Peripheral Nervous System Agents Phase 2
45 Liver Extracts Phase 2
46 Cola Nutraceutical Phase 2

Interventional clinical trials:

(show all 20)

id Name Status NCT ID Phase Drugs
1 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4 Sirolimus
2 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
4 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Unknown status NCT02104011 Phase 2 Propranolol
5 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
6 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
7 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2 everolimus and letrozole
8 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
9 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
10 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
11 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
12 Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus Recruiting NCT02539459 Phase 2 Everolimus
13 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
14 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Recruiting NCT02484664 Phase 2 Celecoxib
15 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
16 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
17 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
18 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
19 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Recruiting NCT02887781
20 A National Registry on Chinese Patients With Lymphangioleiomyomatosis Recruiting NCT03193892

Search NIH Clinical Center for Angiomyolipoma

Cochrane evidence based reviews: angiomyolipoma

Genetic Tests for Angiomyolipoma

Anatomical Context for Angiomyolipoma

MalaCards organs/tissues related to Angiomyolipoma:

39
Kidney, Liver, Breast, Lung, Colon, Endothelial, Brain

Publications for Angiomyolipoma

Articles related to Angiomyolipoma:

(show top 50) (show all 808)
id Title Authors Year
1
The Histopathological Features and CT/MRI Imaging Performances in Hepatic Angiomyolipoma Patients. ( 28809731 )
2017
2
Efficacy of Everolimus for Treating Renal Angiomyolipoma with Inferior Vena Cava Thrombus Associated with Tuberous Sclerosis: A Case Report. ( 28083476 )
2017
3
Wunderlich Syndrome due to Ruptured Pseudoaneurysm of Angiomyolipoma in First Trimester: A Rare Case Report. ( 28764248 )
2017
4
Fluorine-18-FDG PET/CT in a patient with angiomyolipoma: Response to mammalian target of rapamycin inhibitor therapy. ( 28697195 )
2017
5
Clinico-pathological correlation of hepatic angiomyolipoma: a series of 23 resection cases. ( 28122404 )
2017
6
Angiomyolipoma of the Adrenal Gland: A Report of Two Cases and Review of the Literature. ( 28904331 )
2017
7
Small (< 4 cm) Renal Tumors With Predominantly Low Signal Intensity on T2-Weighted Images: Differentiation of Minimal-Fat Angiomyolipoma From Renal Cell Carcinoma. ( 27824487 )
2017
8
Laparoscopic partial nephrectomy with prior superselective embolisation as treatment for giant renal angiomyolipoma. ( 28803678 )
2017
9
Healthcare utilization and costs in patients with tuberous sclerosiscomplex-related renal angiomyolipoma. ( 27998195 )
2017
10
Giant renal angiomyolipoma: A case report. ( 28781806 )
2017
11
Spontaneous rupture of renal angiomyolipoma during pregnancy. ( 28062422 )
2017
12
Nasal angiomyolipoma: Report of two cases of an extremely rare entity. ( 28937379 )
2017
13
Editorial Comment to Intermittent everolimus administration for renal angiomyolipoma associated with tuberous sclerosis complex. ( 28905424 )
2017
14
Cryoablation of Renal Angiomyolipoma: An Evaluation of Safety and Efficacy. ( 28830229 )
2017
15
Active Surveillance of Nonfatty Renal Masses in Patients With Lymphangioleiomyomatosis: Use of CT Features and Patterns of Growth to Differentiate Angiomyolipoma From Renal Cancer. ( 28678574 )
2017
16
Renal Angiomyolipoma: Radiologic Classification and Imaging Features According to the Amount of Fat. ( 28726505 )
2017
17
Diagnostic Performance of CT for Diagnosis of Fat-Poor Angiomyolipoma in Patients With Renal Masses: A Systematic Review and Meta-Analysis. ( 28834444 )
2017
18
Ang-1 and Ang-2 expression in angiomyolipoma and PEComa family tumors. ( 28053374 )
2017
19
Management of hepatic angiomyolipoma: A systematic review. ( 28177188 )
2017
20
A case of ruptured hepatic angiomyolipoma in a young male. ( 28449573 )
2017
21
Huge buccal angiomyolipoma: a rare entity. ( 28918977 )
2017
22
Renal angiomyolipoma without visible fat: Can we make the diagnosis using CT and MRI? ( 28779401 )
2017
23
Hepatic angiomyolipomas may overexpress TFE3, but have no relevant genetic alterations. ( 27865795 )
2017
24
Renal Epithelioid Angiomyolipoma Associated with Pulmonary Lymphangioleiomyomatosis: Imaging Findings. ( 28584685 )
2017
25
Renal epithelioid angiomyolipoma: MRI findings. ( 28695453 )
2017
26
Retroperitoneal extrarenal angiomyolipoma at the surgical bed 8 years after a renal angiomyolipoma nephrectomy: A case report and review of literature. ( 28794601 )
2017
27
Primary hepatic angiomyolipoma: immunohistochemistry and electron microscopic observations: a case report. ( 28327196 )
2017
28
Angiomyolipoma of the scrotum: report of a rarely seen case and review of the literature. ( 28717551 )
2017
29
The sunburst sign in renal angiomyolipoma. ( 28828502 )
2017
30
Fat poor angiomyolipoma differentiation from renal cell carcinoma at 320-slice dynamic volume CT perfusion. ( 28828638 )
2017
31
Intermittent everolimus administration for renal angiomyolipoma associated with tuberous sclerosis complex. ( 28905429 )
2017
32
Distinct subcellular localization of E-cadherin between epithelioid angiomyolipoma and triphasic angiomyolipoma: A preliminary case-control study. ( 28693223 )
2017
33
Quantitative computer-aided diagnostic algorithm for automated detection of peak lesion attenuation in differentiating clear cell from papillary and chromophobe renal cell carcinoma, oncocytoma, and fat-poor angiomyolipoma on multiphasic multidetector computed tomography. ( 28280876 )
2017
34
A Giant Intra Abdominal Mass Mimicking Renal Cell Carcinoma: A Rare Presentation of Renal Angiomyolipoma. ( 27612907 )
2016
35
A case of renal cell carcinoma and angiomyolipoma in an adolescent girl. ( 27499406 )
2016
36
Long-term outcome of robotic partial nephrectomy for renal angiomyolipoma. ( 27955873 )
2016
37
Invasive Renal Angiomyolipoma With Cytologic Atypia: A Diagnostic Conundrum. ( 27596442 )
2016
38
Activation of the ER stress and calcium signaling in angiomyolipoma. ( 27468872 )
2016
39
Laparoscopic Radiofrequency Ablation Combined with Surgical Excision for Exophytic Renal Angiomyolipoma: A Novel Technique Based on Tumor Vasculature Features of Enhancing Renal Masses Toward Hilar Off-Clamping Nephron-Sparing Surgery. ( 27805457 )
2016
40
Long-Term Clinical Morbidity in Patients with Renal Angiomyolipoma Associated with Tuberous Sclerosis Complex. ( 27132503 )
2016
41
Editorial Comment to Outcomes of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex: A single institution experience in Japan. ( 27572892 )
2016
42
Comparison of Biexponential and Monoexponential Model of Diffusion-Weighted Imaging for Distinguishing between Common Renal Cell Carcinoma and Fat Poor Angiomyolipoma. ( 27833401 )
2016
43
Treatment of renal angiomyolipoma in tuberous sclerosis complex (TSC) patients. ( 27585680 )
2016
44
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. ( 27643397 )
2016
45
A hitherto undescribed benign mesenchymal polyp of the gallbladder: edematous angiomyolipoma-like polyp. ( 27821035 )
2016
46
Re: Can Quantitative CT Texture Analysis be Used to Differentiate Fat-Poor Renal Angiomyolipoma from Renal Cell Carcinoma on Unenhanced CT Images? ( 27845102 )
2016
47
A Review of the Literature on Extrarenal Retroperitoneal Angiomyolipoma. ( 26989509 )
2016
48
Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex. ( 27055516 )
2016
49
Hepatic epithelioid angiomyolipoma: clinical features and imaging findings of contrast-enhanced ultrasound and CT. ( 27890423 )
2016
50
Renal Angiomyolipoma: Mid- to Long-Term Results Following Embolization with Onyx. ( 27468838 )
2016

Variations for Angiomyolipoma

Expression for Angiomyolipoma

Search GEO for disease gene expression data for Angiomyolipoma.

Pathways for Angiomyolipoma

Pathways related to Angiomyolipoma according to GeneCards Suite gene sharing:

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 CCL26 DES ESR1 KIT MTOR TSC1
2
Show member pathways
12.09 MTOR TSC1 TSC2
3
Show member pathways
12.09 KIT MTOR TSC1 TSC2
4 12.03 MTOR TSC1 TSC2
5
Show member pathways
11.97 MTOR TSC1 TSC2
6
Show member pathways
11.9 MTOR TSC1 TSC2
7
Show member pathways
11.89 MTOR TSC1 TSC2
8
Show member pathways
11.85 ESR1 KIT MITF MTOR PGR TSC1
9 11.82 MTOR TSC1 TSC2
10 11.78 MTOR TSC1 TSC2
11 11.75 ESR1 MTOR TSC1 TSC2
12 11.72 ESR1 MTOR TSC2
13 11.68 MTOR TSC1 TSC2
14 11.54 MTOR TSC1 TSC2
15 11.33 MTOR TSC1 TSC2
16 11.22 MTOR TSC1 TSC2
17 11.06 MTOR TSC2
18 11 MTOR TSC2
19 10.86 MTOR TSC1 TSC2
20 10.78 MTOR TSC1
21 10.55 ESR1 MTOR TSC1 TSC2

GO Terms for Angiomyolipoma

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

id Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.62 ACTC1 KIT MITF MTOR
2 cell cycle arrest GO:0007050 9.58 MTOR TSC1 TSC2
3 stem cell differentiation GO:0048863 9.49 ESR1 KIT
4 negative regulation of TOR signaling GO:0032007 9.48 TSC1 TSC2
5 negative regulation of insulin receptor signaling pathway GO:0046627 9.46 TSC1 TSC2
6 positive regulation of macroautophagy GO:0016239 9.43 TSC1 TSC2
7 melanocyte differentiation GO:0030318 9.37 KIT MITF
8 negative regulation of macroautophagy GO:0016242 9.26 MTOR TSC1
9 anoikis GO:0043276 9.16 MTOR TSC2
10 negative regulation of cell size GO:0045792 8.96 MTOR TSC1
11 positive regulation of phospholipase C activity GO:0010863 8.62 ESR1 KIT

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

id Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 8.62 ESR1 PGR

Sources for Angiomyolipoma

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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