RMS2
MCID: RHB024
MIFTS: 64

Rhabdomyosarcoma 2 (RMS2)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rhabdomyosarcoma 2

MalaCards integrated aliases for Rhabdomyosarcoma 2:

Name: Rhabdomyosarcoma 2 57 74
Alveolar Rhabdomyosarcoma 12 53 59 29 6 15 17 72
Rhabdomyosarcoma Alveolar 53 74 55 40
Rhabdomyosarcoma, Alveolar 57 75 44
Alveolar Childhood Rhabdomyosarcoma 12 72
Rhabdomyosarcoma 2, Alveolar 57 13
Rms2 57 74
Rmsa 57 74
Rhabdomyosarcoma, Alveolar; Rmsa 57
Arms 53

Characteristics:

OMIM:

57
Inheritance:
somatic mutation


HPO:

32
rhabdomyosarcoma 2:
Inheritance autosomal recessive inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:4051
OMIM 57 268220
MeSH 44 D018232
NCIt 50 C3749 C7958
SNOMED-CT 68 63449009
MESH via Orphanet 45 D018232
ICD10 via Orphanet 34 C49.9
UMLS via Orphanet 73 C0206655
Orphanet 59 ORPHA99756
MedGen 42 C0206655
UMLS 72 C0206655 C0279613

Summaries for Rhabdomyosarcoma 2

UniProtKB/Swiss-Prot : 74 Rhabdomyosarcoma 2: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.

MalaCards based summary : Rhabdomyosarcoma 2, also known as alveolar rhabdomyosarcoma, is related to orbit rhabdomyosarcoma and pleomorphic rhabdomyosarcoma. An important gene associated with Rhabdomyosarcoma 2 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Pathways in cancer and Glioma. The drugs Ranibizumab and Ethambutol have been mentioned in the context of this disorder. Affiliated tissues include breast, lung and prostate, and related phenotypes are alveolar rhabdomyosarcoma and growth/size/body region

Wikipedia : 75 Alveolar rhabdomyosarcoma (ARMS) is a sub-type of the rhabdomyosarcoma soft tissue cancer family whose... more...

More information from OMIM: 268220

Related Diseases for Rhabdomyosarcoma 2

Diseases in the Rhabdomyosarcoma family:

Rhabdomyosarcoma 2

Diseases related to Rhabdomyosarcoma 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 orbit rhabdomyosarcoma 30.8 MYOG MB
2 pleomorphic rhabdomyosarcoma 30.4 PAX7 PAX3 MYOD1 MB FOXO1
3 soft tissue sarcoma 30.4 MDM2 FOXO1 EWSR1
4 alveolar soft part sarcoma 30.3 MYOD1 MB ENO2 DES
5 botryoid rhabdomyosarcoma 30.3 PAX3 MYOD1 MB DES
6 sarcoma, synovial 30.2 MDM2 IGF1R DES
7 malignant fibroxanthoma 30.1 MYOD1 MDM2 DES CDK4
8 desmoplastic small round cell tumor 30.0 WT1 EWSR1 ENO2 DES
9 breast rhabdomyosarcoma 29.9 MYOG MYOD1 MB KIDINS220 FOXO1
10 cellular myxoid liposarcoma 29.9 PAX7 MDM2 EWSR1 CDK4
11 glioblastoma 29.7 MYCN MDM2 IGF1R CDK4 ALK
12 liposarcoma 29.6 MDM2 MB EWSR1 DES CDK4
13 histiocytoma 29.4 MYOD1 MDM2 MB EWSR1 ALK
14 leiomyosarcoma 28.9 WT1 MYOG MDM2 MB ENO2 DES
15 wilms tumor 1 28.8 WT1 MYOG MYCN IGF1R EWSR1 ENO2
16 embryonal rhabdomyosarcoma 28.4 PAX7 PAX3 MYOG MYOD1 MYCN MB
17 malignant mesenchymoma 28.3 WT1 MYOG MYOD1 MDM2 MB EWSR1
18 skeletal muscle cancer 28.0 RHD PAX7 PAX3 MYOG MYOD1 MB
19 muscle cancer 26.8 WT1 RHD PAX7 PAX3 MYOG MYOD1
20 ewing sarcoma 26.5 WT1 PAX7 PAX3 MYOG MYOD1 MYCN
21 rhabdomyosarcoma 24.8 RMST PAX7 PAX3 MYOG MYOD1 MYCN
22 mixed type rhabdomyosarcoma 11.4
23 orbit alveolar rhabdomyosarcoma 11.4
24 ring chromosome 7 10.6 MDM2 CDK4
25 breast cancer 10.6
26 kidney sarcoma 10.6 WT1 MB
27 adrenal neuroblastoma 10.6 MYCN ENO2
28 giant cell myocarditis 10.6 MB DES
29 infiltrating angiolipoma 10.6 MDM2 CDK4
30 orbital cancer 10.5 MB ENO2
31 primitive neuroectodermal tumor of the cervix uteri 10.5 ENO2 DES
32 inflammatory mfh 10.5 MDM2 CDK4
33 sclerosing liposarcoma 10.5 MDM2 MB
34 cellular schwannoma 10.5 PAX7 PAX3 MDM2
35 myxofibrosarcoma 10.5 MDM2 DES
36 epulis 10.5 ENO2 DES
37 malignant triton tumor 10.5 MYOD1 MB DES
38 spindle cell rhabdomyosarcoma 10.5 MYOD1 MB DES
39 mixed liposarcoma 10.5 MDM2 MB CDK4
40 central nervous system mesenchymal non-meningothelial tumor 10.5 PAX7 PAX3 MYOD1 FOXO1
41 bilateral retinoblastoma 10.4 MYCN MB DES
42 childhood kidney cell carcinoma 10.4 PAX3 FOXO1 ALK
43 lipoblastoma 10.4 MDM2 CDK4
44 epithelioid leiomyosarcoma 10.4 ENO2 DES
45 malignant ectomesenchymoma 10.4 FOXO1 ENO2 DES
46 pericardium cancer 10.4 MYCN MB ENO2
47 ectomesenchymoma 10.4 FOXO1 ENO2 DES
48 ossifying fibromyxoid tumor 10.4 ENO2 DES
49 kidney clear cell sarcoma 10.4 WT1 MB ENO2
50 conventional leiomyosarcoma 10.4 PAX7 MYOG MYOD1

Graphical network of the top 20 diseases related to Rhabdomyosarcoma 2:



Diseases related to Rhabdomyosarcoma 2

Symptoms & Phenotypes for Rhabdomyosarcoma 2

Human phenotypes related to Rhabdomyosarcoma 2:

32
# Description HPO Frequency HPO Source Accession
1 alveolar rhabdomyosarcoma 32 HP:0006779

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
alveolar rhabdomyosarcoma

Clinical features from OMIM:

268220

MGI Mouse Phenotypes related to Rhabdomyosarcoma 2:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 ALK CDK4 ENO2 FOXO1 IGF1R KIDINS220
2 cellular MP:0005384 10.33 CDK4 DES ENO2 FOXO1 IGF1R KIDINS220
3 behavior/neurological MP:0005386 10.31 ALK CDK4 DES ENO2 FOXO1 IGF1R
4 cardiovascular system MP:0005385 10.3 CDK4 DES FOXO1 IGF1R KIDINS220 MB
5 homeostasis/metabolism MP:0005376 10.27 ALK CDK4 DES FOXO1 IGF1R MB
6 mortality/aging MP:0010768 10.25 ALK CDK4 DES FOXO1 IGF1R KIDINS220
7 embryo MP:0005380 10.21 CDK4 FOXO1 IGF1R MB MDM2 MYCN
8 hematopoietic system MP:0005397 10.18 CDK4 FOXO1 IGF1R MB MDM2 MYCN
9 muscle MP:0005369 10.15 CDK4 DES FOXO1 IGF1R MB MDM2
10 craniofacial MP:0005382 10.08 ENO2 FOXO1 IGF1R MDM2 MYCN PAX3
11 digestive/alimentary MP:0005381 10.07 CDK4 FOXO1 IGF1R MDM2 MYCN PAX3
12 liver/biliary system MP:0005370 9.98 CDK4 FOXO1 IGF1R MDM2 MYCN PAX3
13 neoplasm MP:0002006 9.97 ALK CDK4 FOXO1 IGF1R MDM2 MYOD1
14 no phenotypic analysis MP:0003012 9.91 FOXO1 KIDINS220 MDM2 MYCN MYOD1 MYOG
15 normal MP:0002873 9.81 CDK4 FOXO1 MDM2 MYCN MYOD1 MYOG
16 respiratory system MP:0005388 9.65 ALK ENO2 IGF1R MB MYCN MYOD1
17 skeleton MP:0005390 9.28 ALK FOXO1 IGF1R MDM2 MYCN MYOD1

Drugs & Therapeutics for Rhabdomyosarcoma 2

Drugs for Rhabdomyosarcoma 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1768)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Ethambutol Approved Phase 4 74-55-5 3279 14052
3
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
4
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
5
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
6
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
7
Probucol Approved, Investigational Phase 4 23288-49-5 4912
8
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
9 Nutmeg Approved Phase 4
10
Rimonabant Approved, Investigational Phase 4 158681-13-1, 168273-06-1 104850
11
Nitazoxanide Approved, Investigational, Vet_approved Phase 4 55981-09-4 41684
12
Nadolol Approved Phase 4 42200-33-9 39147
13 Tangerine Approved Phase 4
14
Lacidipine Approved, Investigational Phase 4 103890-78-4
15
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
16
Captopril Approved Phase 4 62571-86-2 44093
17
Ticlopidine Approved Phase 4 55142-85-3 5472
18
Nitrendipine Approved, Investigational Phase 4 39562-70-4 4507
19
Temozolomide Approved, Investigational Phase 4 85622-93-1 5394
20
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
21
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
22
Cetirizine Approved Phase 4 83881-51-0 2678
23
Loratadine Approved, Investigational Phase 4 79794-75-5 3957
24
Azelastine Approved Phase 4 58581-89-8 2267
25
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
26
Scopolamine Approved, Investigational Phase 4 6533-68-2, 51-34-3 5184
27
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
28
Resveratrol Approved, Experimental, Investigational Phase 4 501-36-0 445154
29
Olmesartan Approved, Investigational Phase 4 144689-63-4, 144689-24-7 130881 158781
30
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
31
Pyrazinamide Approved, Investigational Phase 4 98-96-4 1046
32
Zinc Approved, Investigational Phase 4 7440-66-6 32051
33
Insulin Lispro Approved Phase 4 133107-64-9
34
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
35
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
36
Fenofibrate Approved Phase 4 49562-28-9 3339
37
Licorice Approved Phase 4
38
Ezetimibe Approved Phase 4 163222-33-1 150311
39
Lopinavir Approved Phase 4 192725-17-0 92727
40
Fosamprenavir Approved Phase 4 226700-79-4 131536
41
Misoprostol Approved Phase 4 59122-46-2 5282381
42
Ribavirin Approved Phase 4 36791-04-5 37542
43
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
44
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
45
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
46
Sulfamethoxazole Approved Phase 4 723-46-6 5329
47
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
48
Insulin glulisine Approved Phase 4 207748-29-6
49
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
50
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Phase IV Study of Effects of 'Seroquel-XR' on the Improvement of Neurocognitive Function in People At-risk Mental States(ARMS) Unknown status NCT01250847 Phase 4 Quetiapine(Seroquel-XR) 50~800mg a day
2 Efficacy of Nebulized Pulmicort Respules on Post Operation Pulmonary Complication During Pulmonary Single Lobectomy Surgery in Primary Lung Cancer Patients With COPD Unknown status NCT02504801 Phase 4 Budesonide
3 The Safety、Efficacy and Pharmacokinetics of Dexmedetomidine Administered Through Different Routes in Pediatric Unknown status NCT03337581 Phase 4 Dexmedetomidine
4 Assessment of Implantation Potential of Embryos Cultured by Time-lapse Technology (Embryoscope) Before Transfer in In-vitro Fertilization (IVF) / Intracytoplasmic Sperm Injection (ICSI) Cycles: A Randomized Control Study. Unknown status NCT01760278 Phase 4 recombinant Follicle Stimulating Hormone (rFSH)
5 Botulinum Toxin A for the Treatment of Chronic Lumbar Back Pain: A Prospective Randomized Double-blind Placebo-controlled Crossover Study Unknown status NCT00404417 Phase 4 Botulinum Toxin A / Placebo;Botulinum Toxin A / Botulinum Toxin A;Placebo / Botulinum Toxin A;Placebo / Placebo
6 A Prospective,Randomized Control Trial of Intraoperative Intraportal Chemotherapy (5-FU and Oxaliplatin) Combined With Adjuvant Chemotherapy to Prevent Liver Metastasis in Patients Receiving Curative Colorectal Cancer Resection. Unknown status NCT01972503 Phase 4 5-FU and oxaliplatin
7 Graft Patency After FFR-guided Versus Angio-guided CABG: a Prospective, Multicenter, Multinational, Randomized (1:1) Controlled Trial Unknown status NCT01810224 Phase 4
8 Randomized Controlled Trial to Compare the Immunogenicity of Intramuscular Versus Intradermal Trivalent Inactivated Split Virion Influenza Vaccine in HIV-infected Men Who Have Sex With Men in Bangkok, Thailand Unknown status NCT01538940 Phase 4
9 A Randomised Controlled Trial of Lifestyle Versus Ezetimibe Plus Lifestyle in Patients With Non-alcoholic Steatohepatitis Unknown status NCT01950884 Phase 4 Ezetimibe
10 Contrast The Role of Microfibrillar Collagen Hemostat Flour(Avitene) And OK-432 (Sapylin)in Reducing Seroma Formation After Axillary Lymphadenectomy for Breast Cancer Unknown status NCT02158299 Phase 4 Avitene;Sapylin
11 Open Randomized Phase IV Study on Intravenous Iron in Anemic Patients With Chronic Kidney Disease Unknown status NCT00204256 Phase 4 Iron sucrose
12 A Prospective, Randomized, Multicenter, Open-label Study Evaluating HBeAg Seroconversion in HBeAg Positive CHB Patients on Treatment With NA Switched to Combined Therapy With Peginterferon Alfa-2a and NA for 48 Weeks Unknown status NCT02474316 Phase 4 Peginterferon alfa-2a;nucleos(t)ide analgoue
13 Antihypertensive Drug Treatment Decisions Based on Home Blood Pressure Monitoring Unknown status NCT00841308 Phase 4
14 Treatment of Nephrotic Syndrome Relapse With Low Steroid Dose Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
15 Efficacy and Safety of Etanercept Dose Reduction in Patients With Ankylosing Spondylitis Unknown status NCT02638896 Phase 4 etanercept (Half-Dose);etanercept (Full-Dose);Sulfasalazine;Celecoxib
16 To Compare the Effect of Concomitant Administration of Probucol and Cilostazol With Probucol Single Treatment on the Atherosclerosis Related Markers (Including the Thickness of the Achilles Tendon) and Evaluate Safety (Based on Atorvastatin Treatment) in Severe Hypercholesterolemia Subject Unknown status NCT02098460 Phase 4 Atorvastatin, Probucol, Cilostazol
17 Left Atrial Ablation of Paroxysmal Atrial Fibrillation With Implantable Loop Recorder Follow Up Study 2 Unknown status NCT01504451 Phase 4
18 Prospective, Randomized Clinical Trial Comparing Pain Sensation, Seroma Formation and Quality od Life Following BCT With SLND in Breast Cancer Patients Operated With Classic Versus High-frequency Electrocoagulation. Unknown status NCT01216254 Phase 4
19 Treatment With Continuous Sub-cutaneous Insulin Infusion Via a Portable Pump Versus Discontinuous Insulin Infusion Via Multiple-injections in Type 2 Diabetes: Study of Insulin Sensitivity in the 2 Types of Treatment Unknown status NCT02048189 Phase 4 LEVEMIR;APIDRA
20 Metformin Experience on Minimal Hepatic Encephalopathy in Patients With Liver Cirrhosis Unknown status NCT02470546 Phase 4 Metformin;Placebo
21 A Multicenter, Double Arms, Prospective Phase 4 Study to Evaluating the Efficacy and Safety of Combination Therapy of PAD Versus VCD Treatment in Previously Untreated Subjects With Multiple Myeloma. Unknown status NCT01868828 Phase 4 PAD;VCD
22 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4 usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
23 Pirfenidone Effect on the Recovery of Renal Function in Patients With Septic Acute Kidney Injury Unknown status NCT02530359 Phase 4 Pirfenidone extended release;Placebo equivalent
24 Role Of Saccharomyces Boulardii In Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
25 Cotrimoxazole Prophylaxis Cessation Study Among Stabilized HIV-Infected Adult Patients on HAART in Entebbe, Uganda Unknown status NCT00674921 Phase 4 cotrimoxazole;Placebo
26 Randomized Controlled Trial to Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Unknown status NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
27 Use of TNF-blocking Therapy in Combination With DMARDs in Patients With Early Rheumatoid Arthritis Unknown status NCT00908089 Phase 4 Trexan+Salazopyrin+Oxiklorin+prednisolone + infliximab;Trexan+Salazopyrin+Oxiklorin+prednisolone + placebo
28 Maraviroc Abacavir STudy - Effect on Endothelial Recovery Unknown status NCT01389063 Phase 4 Maraviroc
29 A Double-Blind, Placebo-Controlled, Flexible-Dose Pilot Clinical Trial of Once-Daily Extended-Release Tramadol for the Treatment of PTSD Unknown status NCT01517711 Phase 4 Tramadol;Placebo
30 Randomized, Long-Term Study About the Effects of Analogue Versus Human Insulin Based Regimens (Insulin Detemir and Aspart Versus NPH- and Regular Human Insulin) on Metabolic Control and Myocardial Function in People With Type 2 Diabetes. Unknown status NCT00747409 Phase 4 insulin aspart and detemir (NovoRapid, Levemir);human regular insulin and NPH insulin (Actrapid, Protaphne)
31 The Dolutegravir Antiretroviral Mono-Therapy for HIV Trial Unknown status NCT02401828 Phase 4 Dolutegravir
32 Randomised, Double-blind, Placebo-controlled Trial of IVabradine in Patients With Acute Coronary Syndrome: Effects of the If Current Inhibitor Ivabradine or rEduction of Inflammation maRkers in Patients With Acute Coronary Syndrome Unknown status NCT00815100 Phase 4 Ivabradine;Placebo
33 Luteal Phase Support With Progesterone vs Estrogen and Progesterone on Pregnancy Rates in Ovarian Stimulation and Intrauterine Insemination Cycles: a Prospective Randomized Study Unknown status NCT01237535 Phase 4 Luteal support with progesterone only;Luteal support with estrogen + progesterone
34 Depo Provera Self-Administration Study: Putting a Patient-Centered Practice to the Test at Planned Parenthood Unknown status NCT02509767 Phase 4 Subcutaneous depot medroxyprogesterone acetate
35 Basal-bolus Insulin Therapy With Insulin Degludec and Insulin Aspart Versus Standard Therapy for the Inpatient Management of Type 2 Diabetes: the IDA2 Study Unknown status NCT03244241 Phase 4 Insulin Degludec 100 UNT/ML [Tresiba]
36 Test of Efficacy and Safety of the Dual Antiplatelet Therapy Compared to the Combination of Oral Anticoagulant Therapy + Dual Antiplatelet Therapy in Patients With Atrial Fibrillation With Low-moderate Risk Submitted to Coronary Stent Implantation Unknown status NCT01141153 Phase 4 Acetylsalicylic Acid + clopidogrel + acenocoumarol;Acetylsalicylic Acid + clopidogrel
37 A 12-week, Single Site, Randomized Controlled Trial to Compare the Efficacy of Quantum NPWT With and Without Simultaneous Irrigation Versus Standard of Care on Reduction of the Volume of Stage III/IV Pressure Ulcers. Unknown status NCT01734109 Phase 4
38 Clinical Study to Compare Various Dosing and Titration Guidelines of Insulin Delivered Via V-Go ® in Patients With Type 2 Diabetes Initiating Basal Bolus Therapy in Primary Care Offices (Short Title: TITRATE) Unknown status NCT02361489 Phase 4
39 Comparison of Topical and Nebulized Anesthesia in Patients Undergoing Esophago-Gastro-Duodenoscopy Unknown status NCT02317770 Phase 4 Lidocaine Spray;Nebulized Lidocaine
40 Etanercept Versus Adalimumab in the Treatment of Patients With Ankylosing Spondylitis. A Switch Study Unknown status NCT02489760 Phase 4
41 Pulmonary Vein Isolation With Versus Without Continued Antiarrhythmic Drug Treatment in Subjects With Recurrent Atrial Fibrillation: A Prospective 2-Centre Randomized Controlled Clinical Study (POWDER-AF) Unknown status NCT02475642 Phase 4
42 Analgesic Efficacy of Oral Dexketoprofen Trometamol/Tramadol Hydrochloride Versus Tramadol Hydrochloride/Paracetamol: a Randomised, Double-blind, Placebo and Active-controlled, Parallel Group Study in Moderate to Severe Acute Pain After Removal of Impacted Lower Third Molar (Dexketoprofen Analgesic eVolution wIth tramaDol- DAVID Study) Unknown status NCT02777970 Phase 4 Tramadol Hydrochloride/Dexketoprofen Trometamol;Tramadol Hydrochloride/Paracetamol;Placebo
43 Effect of Linagliptin in Comparison With Glimepiride as Add on to Metformin on Postprandial Beta Cell Function, Postprandial Metabolism and Oxidative Stress in Patients With Type 2 Diabetes Mellitus Unknown status NCT01547104 Phase 4 Linagliptin;Glimepiride
44 A Randomized Controlled Trial to Compare Sublingual and Buccal Misoprostol Regimens After Mifepristone for Termination of Pregnancy 13 - 21 Weeks From Last Menstrual Period (LMP) Unknown status NCT02708446 Phase 4 Mifepristone;Buccal misoprostol;Sublingual misoprostol
45 Study of the Concentrations of Long Acting Morphine After Oral Absorption in Subjects Who Underwent Gastric Bypass (OBEMO 2) Unknown status NCT02641301 Phase 4 Sustained release morphine sulfate, 30 mg
46 Efficacy of Omega-3 Fatty Acids on Borderline Personality Disorder: a Randomized, Double Blind Clinical Trial. Unknown status NCT00437099 Phase 4 Omacor®;Placebo
47 Safety and Efficacy of Immunosuppression With Basiliximab, Delayed Dose Tacrolimus Plus Enteric Coated Mycophenolic Acid, Versus Standard Dose Tacrolimus, Enteric Coated Mycophenolic Acid Plus Corticosteroids in Patients Undergoing Orthotopic Liver Transplantation (OLT) Unknown status NCT02123108 Phase 4 Basiliximab
48 Minimizing Post-Procedural Vascular Complications: Comparing Bivalirudin Versus Heparin/GP IIB/IIA in Patients Undergoing Percutaneous Coronary Intervention Unknown status NCT00476944 Phase 4
49 A Single Center, Prospective Phase IV, Open-Label, Randomized Trial Comparing the Efficacy , Tolerability, and Safety of Quadritherapy Regimen (Reiferon Retard® + Ribavirin + Nitazoxanide + Alfacalcidol ( Bon-One ®) ) Versus Triple Therapy Regimen (Reiferon Retard® + Ribavirin + Nitazoxanide) Versus the Standard of Care Regimen(Reiferon Retard® + Ribavirin) in the Treatment of Naïve Chronic Hepatitis- C Among the Egyptian Population. Effectiveness Will be Evaluated Based on Sustained Viral Response (SVR) Unknown status NCT01896609 Phase 4 Bon one in Arm 3;Xerovirinc in Arm 2;Ribavirin in Arm 1
50 Herbal Alternatives for Menopause Symptoms: A Randomized Trial Unknown status NCT00169299 Phase 4 Black cohosh;Multibotanical preparation;Multibotanical preparation + dietary soy counseling;Conjugated equine estrogen +/- medroxyprogesterone acetate

Search NIH Clinical Center for Rhabdomyosarcoma 2

Cochrane evidence based reviews: rhabdomyosarcoma, alveolar

Genetic Tests for Rhabdomyosarcoma 2

Genetic tests related to Rhabdomyosarcoma 2:

# Genetic test Affiliating Genes
1 Alveolar Rhabdomyosarcoma 29 FOXO1 PAX3 PAX7

Anatomical Context for Rhabdomyosarcoma 2

MalaCards organs/tissues related to Rhabdomyosarcoma 2:

41
Breast, Lung, Prostate, Testes, Bone, Brain, Heart

Publications for Rhabdomyosarcoma 2

Articles related to Rhabdomyosarcoma 2:

(show top 50) (show all 992)
# Title Authors PMID Year
1
Mechanism for transcriptional gain of function resulting from chromosomal translocation in alveolar rhabdomyosarcoma. 9 38 8
8643596 1996
2
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. 9 38 8
8275086 1993
3
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. 9 38 8
8098985 1993
4
Clinical utility gene card for: Alveolar rhabdomyosarcoma. 38 71
21829230 2012
5
Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome? 38 8
11556833 2001
6
Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. 38 8
1505949 1992
7
Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma. 38 8
1382566 1992
8
Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13. 38 8
1783402 1991
9
Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis. 8
12368906 2002
10
Translocation 2;8 in a congenital rhabdomyosarcoma. 8
3342389 1988
11
Chromosomal analysis of sixteen human rhabdomyosarcomas. 8
3338090 1988
12
A specific chromosomal abnormality in rhabdomyosarcoma. 8
3691179 1987
13
The utility of FOXO1 fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded specimens in the diagnosis of alveolar rhabdomyosarcoma. 9 38
19704258 2009
14
MI-63: a novel small-molecule inhibitor targets MDM2 and induces apoptosis in embryonal and alveolar rhabdomyosarcoma cells with wild-type p53. 9 38
19707204 2009
15
Structural basis for DNA recognition by the human PAX3 homeodomain. 9 38
19199574 2009
16
Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 9 38
18386058 2008
17
Adult cutaneous alveolar rhabdomyosarcoma on the face diagnosed by the expression of PAX3-FKHR gene fusion transcripts. 9 38
18705836 2008
18
Rhabdomyosarcoma an ubiquitous pediatric tumour. 9 38
18727437 2008
19
Guilt by association: PAX3-FOXO1 regulates gene expression through selective destabilization of the EGR1 transcription factor. 9 38
18414034 2008
20
[Diagnosis of micrometastases of alveolar rhabdomyosarcoma]. 9 38
18540440 2008
21
Comparison of the proximal promoter regions of the PAX3 and PAX7 genes. 9 38
17954266 2007
22
New genetic tactics to model alveolar rhabdomyosarcoma in the mouse. 9 38
16140913 2005
23
Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. 9 38
15313887 2004
24
Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression. 9 38
15184910 2004
25
The MYCN oncoprotein as a drug development target. 9 38
12880971 2003
26
Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma. 9 38
11863357 2002
27
Transcriptional regulation of IGF-I receptor gene expression by the PAX3-FKHR oncoprotein. 9 38
11735247 2001
28
Regulating the neoplastic phenotype using engineered transcriptional repressors. 9 38
11164187 2001
29
Structural analysis of PAX7 rearrangements in alveolar rhabdomyosarcoma. 9 38
10700864 2000
30
A genetic analysis of PAX3-FKHR, the oncogene of alveolar rhabdomyosarcoma. 9 38
10616906 1999
31
PAX3 gene structure, alternative splicing and evolution. 9 38
10521655 1999
32
PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma. 9 38
10439042 1999
33
The oncogenic potential of the Pax3-FKHR fusion protein requires the Pax3 homeodomain recognition helix but not the Pax3 paired-box DNA binding domain. 9 38
9858583 1999
34
Expression of WT1 in pediatric small cell tumors: report of two cases with a possible mesothelial origin. 9 38
9841704 1999
35
Normal and rearranged PAX3 expression in human rhabdomyosarcoma. 9 38
9546061 1998
36
Chromosomal translocations involving paired box transcription factors in human cancer. 9 38
9570138 1997
37
The genomic organization and the full coding region of the human PAX7 gene. 9 38
9339373 1997
38
Translin recognition site sequences flank chromosome translocation breakpoints in alveolar rhabdomyosarcoma cell lines. 9 38
9294613 1997
39
[Pathologic diagnosis on bone and soft tissue tumors by molecular biological methods]. 9 38
9256013 1997
40
Expression of PAX3 in Ewing's sarcoma family of tumors. 9 38
9169092 1997
41
Novel formation and amplification of the PAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma. 9 38
8889501 1996
42
Cytogenetics and tissue culture of small round cell tumors of bone and soft tissue. 9 38
8875708 1996
43
Alpha 2a-interferon-induced differentiation of human alveolar rhabdomyosarcoma cells: correlation with down-regulation of the insulin-like growth factor type I receptor. 9 38
9052994 1996
44
MDM2 amplification in a primary alveolar rhabdomyosarcoma displaying a t(2;13)(q35;q14). 9 38
8751388 1996
45
Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma. 9 38
8634710 1995
46
The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator. 9 38
7630639 1995
47
Wild type PAX3 protein and the PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma contain potent, structurally distinct transcriptional activation domains. 9 38
7624119 1995
48
Antisense-mediated reduction in insulin-like growth factor-I receptor expression suppresses the malignant phenotype of a human alveolar rhabdomyosarcoma. 9 38
8083365 1994
49
Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. 9 38
8221646 1993
50
Orbital rhabdomyosarcoma. Immunohistochemical studies of seven cases. 9 38
2119961 1990

Variations for Rhabdomyosarcoma 2

ClinVar genetic disease variations for Rhabdomyosarcoma 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PAX3 NM_181457.4(PAX3): c.540C> G (p.Ser180Arg) single nucleotide variant Uncertain significance rs200679164 2:223158932-223158932 2:222294213-222294213
2 PAX3 NM_181457.4(PAX3): c.580G> A (p.Glu194Lys) single nucleotide variant Uncertain significance rs148454691 2:223158892-223158892 2:222294173-222294173
3 APC NM_000038.6(APC): c.449A> G (p.Lys150Arg) single nucleotide variant Uncertain significance rs371085910 5:112111352-112111352 5:112775655-112775655

Cosmic variations for Rhabdomyosarcoma 2:

9 (show top 50) (show all 177)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 8
2 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 8
3 COSM10648 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.524G>A p.R175H 17:7675088-7675088 8
4 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 8
5 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 8
6 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 8
7 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 8
8 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 8
9 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 8
10 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 8
11 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 8
12 COSM10725 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.701A>G p.Y234C 17:7674262-7674262 8
13 COSM6986214 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 8
14 COSM6945139 RICTOR soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.2898-1G>T p.? 5:38952426-38952426 8
15 COSM6986215 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 8
16 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 8
17 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 12:112489084-112489084 8
18 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 8
19 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 8
20 COSM6986208 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 8
21 COSM6910708 POLE soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 8
22 COSM1083818 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 8
23 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1636C>A p.Q546K 3:179218306-179218306 8
24 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 8
25 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1624G>A p.E542K 3:179218294-179218294 8
26 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 8
27 COSM6914067 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 8
28 COSM6964921 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 8
29 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 8
30 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 8
31 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 8
32 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 1:114713907-114713907 8
33 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 8
34 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 8
35 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 8
36 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 8
37 COSM6910706 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 8
38 COSM6933086 NF1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 8
39 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 12:25245351-25245351 8
40 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.38G>A p.G13D 12:25245347-25245347 8
41 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>C p.G12A 12:25245350-25245350 8
42 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 12:25227342-25227342 8
43 COSM6930430 KMT2D soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 8
44 COSM2965310 KDM6A soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.493C>T p.R165* 23:45020659-45020659 8
45 COSM496 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 11:533875-533875 8
46 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 11:534286-534286 8
47 COSM483 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>T p.G12V 11:534288-534288 8
48 COSM481 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 11:534289-534289 8
49 COSM480 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 11:534289-534289 8
50 COSM6945140 GATA1 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.1099C>A p.L367M 23:48794021-48794021 8

Copy number variations for Rhabdomyosarcoma 2 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 25460 1 18957499 19075360 Amplification PAX7 Alveolar rhabdomyosarcoma
2 76221 13 28900000 50900000 Amplification FOXO1A Alveolar rhabdomyosarcoma
3 141698 2 215300000 221500000 Amplification PAX3 Alveolar rhabdomyosarcoma

Expression for Rhabdomyosarcoma 2

Search GEO for disease gene expression data for Rhabdomyosarcoma 2.

Pathways for Rhabdomyosarcoma 2

GO Terms for Rhabdomyosarcoma 2

Biological processes related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.97 WT1 PAX7 PAX3 MYOG MYOD1 MYCN
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 WT1 PAX7 PAX3 MYOG MYOD1 MYCN
3 regulation of gene expression GO:0010468 9.76 PAX7 MYOD1 MDM2 CDK4
4 positive regulation of transcription, DNA-templated GO:0045893 9.63 WT1 PAX3 MYOG MYOD1 MYCN FOXO1
5 positive regulation of myoblast fusion GO:1901741 9.49 MYOG MYOD1
6 myotube differentiation GO:0014902 9.48 MYOG MYOD1
7 positive regulation of skeletal muscle fiber development GO:0048743 9.43 MYOG MYOD1
8 skeletal muscle tissue development GO:0007519 9.43 PAX7 MYOG MYOD1
9 negative regulation of apoptotic process GO:0043066 9.35 WT1 PAX7 MDM2 IGF1R FOXO1
10 muscle cell fate commitment GO:0042693 9.32 MYOG MYOD1
11 muscle organ development GO:0007517 8.92 PAX7 PAX3 MYOG MYOD1

Molecular functions related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.43 WT1 PAX7 PAX3 MYOG MYOD1 FOXO1
2 DNA-binding transcription factor activity GO:0003700 9.17 WT1 PAX7 PAX3 MYOG MYOD1 MYCN

Sources for Rhabdomyosarcoma 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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