RMS2
MCID: RHB024
MIFTS: 59

Rhabdomyosarcoma 2 (RMS2)

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

Aliases & Classifications for Rhabdomyosarcoma 2

MalaCards integrated aliases for Rhabdomyosarcoma 2:

Name: Rhabdomyosarcoma 2 57 75
Alveolar Rhabdomyosarcoma 12 53 59 37 29 15 73
Rhabdomyosarcoma Alveolar 53 75 55 40
Rhabdomyosarcoma, Alveolar 57 76 44
Alveolar Childhood Rhabdomyosarcoma 12 73
Rhabdomyosarcoma 2, Alveolar 57 13
Rms2 57 75
Rmsa 57 75
Pediatric Alveolar Rhabdomyosarcoma 12
Rhabdomyosarcoma, Alveolar; Rmsa 57
Arms 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
rhabdomyosarcoma 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 268220
Disease Ontology 12 DOID:4051
MeSH 44 D018232
NCIt 50 C3749 C7958
SNOMED-CT 68 63449009
Orphanet 59 ORPHA99756
UMLS via Orphanet 74 C0206655
ICD10 via Orphanet 34 C49.9
MESH via Orphanet 45 D018232
MedGen 42 C0206655
KEGG 37 H00037
SNOMED-CT via HPO 69 258211005 404053004

Summaries for Rhabdomyosarcoma 2

UniProtKB/Swiss-Prot : 75 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 soft tissue sarcoma and orbit rhabdomyosarcoma. An important gene associated with Rhabdomyosarcoma 2 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Pathways in cancer. The drugs Cyclophosphamide and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skeletal muscle, and related phenotypes are alveolar rhabdomyosarcoma and growth/size/body region

Wikipedia : 76 Alveolar rhabdomyosarcoma (ARMS) is a sub-type of the rhabdomyosarcoma soft tissue cancer family whose... more...

Description 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 139)
# Related Disease Score Top Affiliating Genes
1 soft tissue sarcoma 30.4 EWSR1 FOXO1 MDM2
2 orbit rhabdomyosarcoma 30.2 MB MYOG
3 desmoplastic small round cell tumor 30.0 WT1 EWSR1 ENO2 DES
4 sarcoma, synovial 29.9 DES IGF1R MDM2
5 neuroblastoma 29.6 ALK ENO2 MDM2 MYCN TH
6 breast rhabdomyosarcoma 29.5 MYOG MYOD1 MB KIDINS220 FOXO1
7 rhabdomyosarcoma 29.0 RMST PAX7 PAX3 MYOG MYOD1 MYCN
8 embryonal rhabdomyosarcoma 29.0 PAX7 PAX3 MYOG MYOD1 MYCN MB
9 ewing sarcoma 28.2 WT1 PAX7 PAX3 MYOG MYOD1 MYCN
10 mixed type rhabdomyosarcoma 11.2
11 orbit alveolar rhabdomyosarcoma 11.2
12 breast cancer 10.4
13 sarcoma 10.4
14 lymphoma 10.3
15 leukemia 10.2
16 kidney sarcoma 10.2 MB WT1
17 adrenal neuroblastoma 10.2 ENO2 MYCN
18 ring chromosome 7 10.2 CDK4 MDM2
19 orbital cancer 10.2 ENO2 MB
20 giant cell myocarditis 10.2 DES MB
21 infiltrating angiolipoma 10.2 CDK4 MDM2
22 sclerosing liposarcoma 10.2 MB MDM2
23 primitive neuroectodermal tumor of the cervix uteri 10.2 DES ENO2
24 inflammatory mfh 10.2 CDK4 MDM2
25 cellular schwannoma 10.2 MDM2 PAX3 PAX7
26 conventional fibrosarcoma 10.2 ENO2 MDM2
27 epulis 10.2 DES ENO2
28 ossifying fibromyxoid tumor 10.2 DES ENO2
29 epithelioid leiomyosarcoma 10.2 DES ENO2
30 myofibroma 10.2 DES MB
31 lipoblastoma 10.2 CDK4 MDM2
32 malignant triton tumor 10.2 DES MB MYOD1
33 acute leukemia 10.2
34 neonatal hypoxic and ischemic brain injury 10.2 ENO2 TH
35 central nervous system mesenchymal non-meningothelial tumor 10.2 PAX7 PAX3 MYOD1 FOXO1
36 bone osteosarcoma 10.2 CDK4 MDM2
37 spindle cell rhabdomyosarcoma 10.2 DES MB MYOD1
38 pericardium cancer 10.2 ENO2 MB MYCN
39 bilateral retinoblastoma 10.1 DES MB MYCN
40 epithelioid cell melanoma 10.1 ENO2 WT1
41 malignant ectomesenchymoma 10.1 DES ENO2 FOXO1
42 ectomesenchymoma 10.1 DES ENO2 FOXO1
43 kidney clear cell sarcoma 10.1 ENO2 MB WT1
44 mixed liposarcoma 10.1 CDK4 MB MDM2
45 adult medulloblastoma 10.1 ENO2 MDM2 MYCN
46 heart sarcoma 10.1 ENO2 MDM2 WT1
47 childhood kidney cell carcinoma 10.1 ALK FOXO1 PAX3
48 sarcomatosis 10.1 EWSR1 WT1
49 chondroid lipoma 10.1 CDK4 ENO2 MDM2
50 atypical lipomatous tumor 10.1 CDK4 MDM2

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



Diseases related to Rhabdomyosarcoma 2

Symptoms & Phenotypes for Rhabdomyosarcoma 2

Symptoms via clinical synopsis from OMIM:

57
Oncology:
alveolar rhabdomyosarcoma


Clinical features from OMIM:

268220

Human phenotypes related to Rhabdomyosarcoma 2:

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

MGI Mouse Phenotypes related to Rhabdomyosarcoma 2:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 ALK CDK4 ENO2 FOXO1 IGF1R KIDINS220
2 cellular MP:0005384 10.4 CDK4 DES ENO2 FOXO1 IGF1R KIDINS220
3 behavior/neurological MP:0005386 10.38 ALK CDK4 DES ENO2 FOXO1 IGF1R
4 cardiovascular system MP:0005385 10.37 CDK4 DES FOXO1 IGF1R KIDINS220 MB
5 homeostasis/metabolism MP:0005376 10.36 ALK CDK4 DES FOXO1 IGF1R MB
6 mortality/aging MP:0010768 10.33 ALK CDK4 DES FOXO1 IGF1R KIDINS220
7 embryo MP:0005380 10.26 CDK4 FOXO1 IGF1R MB MDM2 MYCN
8 hematopoietic system MP:0005397 10.22 CDK4 FOXO1 IGF1R MB MDM2 MYCN
9 muscle MP:0005369 10.21 CDK4 DES FOXO1 IGF1R MB MDM2
10 endocrine/exocrine gland MP:0005379 10.2 ALK CDK4 FOXO1 IGF1R MDM2 PAX3
11 craniofacial MP:0005382 10.12 ENO2 FOXO1 IGF1R MDM2 MYCN PAX3
12 digestive/alimentary MP:0005381 10.11 CDK4 FOXO1 IGF1R MDM2 MYCN PAX3
13 integument MP:0010771 10.1 ALK CDK4 FOXO1 IGF1R MDM2 MYOG
14 neoplasm MP:0002006 10.1 ALK CDK4 FOXO1 IGF1R MDM2 MYOD1
15 liver/biliary system MP:0005370 10.08 CDK4 FOXO1 IGF1R MDM2 MYCN PAX3
16 nervous system MP:0003631 10.07 ALK CDK4 ENO2 IGF1R KIDINS220 MDM2
17 no phenotypic analysis MP:0003012 10.02 FOXO1 KIDINS220 MDM2 MYCN MYOD1 MYOG
18 normal MP:0002873 9.96 CDK4 FOXO1 MDM2 MYCN MYOD1 MYOG
19 reproductive system MP:0005389 9.76 ALK CDK4 FOXO1 IGF1R MDM2 MYCN
20 respiratory system MP:0005388 9.7 ALK ENO2 IGF1R MB MYCN MYOD1
21 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 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 6055-19-2, 50-18-0 2907
2
Vincristine Approved, Investigational Phase 3,Phase 2 57-22-7, 2068-78-2 5978
3
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
4
Irinotecan Approved, Investigational Phase 3,Phase 2 100286-90-6, 97682-44-5 60838
5
Morphine Approved, Investigational Phase 3,Phase 1,Phase 2 57-27-2 5288826
6
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 46835353 6436030 5284616
7
Everolimus Approved Phase 3,Phase 2 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
9
Camptothecin Experimental Phase 3,Phase 2 7689-03-4
10 Immunosuppressive Agents Phase 3,Phase 2
11 Alkylating Agents Phase 3,Phase 2
12 Topoisomerase Inhibitors Phase 3,Phase 2
13 Antibiotics, Antitubercular Phase 3,Phase 2
14 Antineoplastic Agents, Alkylating Phase 3,Phase 2
15 Antirheumatic Agents Phase 3,Phase 2
16 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
17 Antimitotic Agents Phase 3,Phase 2
18 Anti-Bacterial Agents Phase 3,Phase 2
19 Immunologic Factors Phase 3,Phase 2,Phase 1
20 Anti-Infective Agents Phase 3,Phase 2
21 topoisomerase I inhibitors Phase 3,Phase 2
22 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
23 Antifungal Agents Phase 3,Phase 2
24
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
25
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
26
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
27
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
28
Ifosfamide Approved Phase 2 3778-73-2 3690
29
Etoposide Approved Phase 2 33419-42-0 36462
30
Vinblastine Approved Phase 2 865-21-4 241903 13342
31
Bevacizumab Approved, Investigational Phase 2 216974-75-3
32
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
33
Indinavir Approved Phase 2 150378-17-9 5362440
34
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
35
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
36
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
37
Doxil Approved June 1999 Phase 2 31703
38
Isophosphamide mustard Phase 2 0
39 Keratolytic Agents Phase 2
40 Etoposide phosphate Phase 2
41 Podophyllotoxin Phase 2 518-28-5
42 Antibodies Phase 2,Phase 1
43 Dermatologic Agents Phase 2
44 Antibodies, Monoclonal Phase 2,Phase 1
45 Immunoglobulins Phase 2,Phase 1
46 Immunoglobulin G Phase 2
47 Angiogenesis Modulating Agents Phase 2
48 Mitogens Phase 2,Phase 1
49 Endothelial Growth Factors Phase 2
50 Angiogenesis Inhibitors Phase 2

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
2 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine
3 Temozolomide, Cixutumumab, and Combination Chemotherapy in Treating Patients With Metastatic Rhabdomyosarcoma Completed NCT01055314 Phase 2 Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Irinotecan Hydrochloride;Temozolomide;Vincristine Sulfate Liposome
4 Vinorelbine Tartrate and Cyclophosphamide in Combination With Bevacizumab or Temsirolimus in Treating Patients With Recurrent or Refractory Rhabdomyosarcoma Completed NCT01222715 Phase 2 Cyclophosphamide;Temsirolimus;Vinorelbine Tartrate
5 A Pilot Study of Autologous T-Cell Transplantation With Vaccine Driven Expansion of Anti-Tumor Effectors After Cytoreductive Therapy in Metastatic Pediatric Sarcomas Completed NCT00001566 Phase 2 indinavir sulfate
6 Insulin-like Growth Factor 1 Receptor (IGF-1R) Antibody AMG479 (Ganitumab) in Combination With the Src Family Kinase (SFK) Inhibitor Dasatinib in People With Embryonal and Alveolar Rhabdomyosarcoma Recruiting NCT03041701 Phase 1, Phase 2 Dasatinib;Ganitumab
7 A Two-Part Study of TB-403 in Pediatric Subjects With Relapsed or Refractory Medulloblastoma Recruiting NCT02748135 Phase 1, Phase 2 TB-403 20mg/kg;TB-403 50mg/kg;TB-403 100mg/kg;TB-403 ≤175mg/kg
8 CREATE: Cross-tumoral Phase 2 With Crizotinib Active, not recruiting NCT01524926 Phase 2 Crizotinib (PF-02341066)
9 Safety Study of Seneca Valley Virus in Patients With Solid Tumors With Neuroendocrine Features Unknown status NCT00314925 Phase 1 Seneca Valley Virus (biological agent)
10 Studying Protein Expression in Tissue Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01609803
11 Studying Mechanisms of Radiation Therapy Resistance in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01626170
12 Biomarkers in Patients With Advanced Rhabdomyosarcoma Completed NCT01668095
13 Collecting and Storing Tissue From Young Patients With Cancer Completed NCT00898755
14 Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma Recruiting NCT03296371
15 Risk Factors for Drusen Progression Withdrawn NCT01830608

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
Bone, Lung, Skeletal Muscle, Bone Marrow, T Cells, Brain, Myeloid

Publications for Rhabdomyosarcoma 2

Articles related to Rhabdomyosarcoma 2:

(show top 50) (show all 431)
# Title Authors Year
1
Berberis orthobotrys - A promising herbal anti-tumorigenic candidate for the treatment of pediatric alveolar rhabdomyosarcoma. ( 30315865 )
2019
2
Cytologic Diagnosis of Metastatic Alveolar Rhabdomyosarcoma in Cerebrospinal Fluid: A Case Report. ( 29902914 )
2018
3
Importance of whole-body imaging with complete coverage of hands and feet in alveolar rhabdomyosarcoma staging. ( 29368010 )
2018
4
Camptothecin exhibits topoisomerase1-independent KMT1A suppression and myogenic differentiation in alveolar rhabdomyosarcoma cells. ( 29899822 )
2018
5
PAX3-FOXO1 drives miR-486-5p and represses miR-221 contributing to pathogenesis of alveolar rhabdomyosarcoma. ( 29367756 )
2018
6
Synchronous breast cancer and alveolar rhabdomyosarcoma bone marrow metastases. ( 30042812 )
2018
7
One-year survivor of adult alveolar rhabdomyosarcoma of the maxillary sinus with orbital extension: Case report. ( 30170378 )
2018
8
Autophagy modulates temozolomide-induced cell death in alveolar Rhabdomyosarcoma cells. ( 30416757 )
2018
9
Alveolar Rhabdomyosarcoma of the Breast in Adolescent Female. ( 30454495 )
2018
10
18F-FDG PET/CT as staging of alveolar rhabdomyosarcoma. ( 28576545 )
2018
11
Hypercalcaemia secondary to ectopic parathyroid hormone expression in an adolescent with metastatic alveolar rhabdomyosarcoma. ( 28843052 )
2018
12
Sphingosine Induces Apoptosis and Down-regulation of MYCN in PAX3-FOXO1-positive Alveolar Rhabdomyosarcoma Cells Irrespective of TP53 Mutation. ( 29277758 )
2018
13
Regional Nodal Control for Head and Neck Alveolar Rhabdomyosarcoma. ( 29477293 )
2018
14
The Transcriptional Coactivator TAZ Is a Potent Mediator of Alveolar Rhabdomyosarcoma Tumorigenesis. ( 29514840 )
2018
15
The tyrosine kinase inhibitor crizotinib does not have clinically meaningful activity in heavily pre-treated patients with advanced alveolar rhabdomyosarcoma with FOXO rearrangement: European Organisation for Research and Treatment of Cancer phase 2 trial 90101 'CREATE'. ( 29567632 )
2018
16
Alveolar rhabdomyosarcoma presenting as a lung mass: an uncommon presentation of a less common tumor. ( 29588303 )
2018
17
Alveolar rhabdomyosarcoma in the cerebrospinal fluid. ( 29663721 )
2018
18
Fusion status in patients with lymph node-positive (N1) alveolar rhabdomyosarcoma is a powerful predictor of prognosis: Experience of the European Paediatric Soft Tissue Sarcoma Study Group (EpSSG). ( 29797665 )
2018
19
SNAIL is a key regulator of alveolar rhabdomyosarcoma tumor growth and differentiation through repression of MYF5 and MYOD function. ( 29844345 )
2018
20
PPP2R1A regulated by PAX3/FOXO1 fusion contributes to the acquisition of aggressive behavior in PAX3/FOXO1-positive alveolar rhabdomyosarcoma. ( 29861864 )
2018
21
Alveolar rhabdomyosarcoma in a 6-month-old boy. ( 28501810 )
2018
22
Alveolar Rhabdomyosarcoma Decellularization. ( 28540560 )
2018
23
Successful treatment of metastatic alveolar rhabdomyosarcoma with MGMT gene promoter methylation by temozolomide-based combination chemotherapy. ( 28834127 )
2017
24
Sinonasal Tract Alveolar Rhabdomyosarcoma in Adults: A Clinicopathologic and Immunophenotypic Study of Fifty-Two Cases with Emphasis on Epithelial Immunoreactivity. ( 28875443 )
2017
25
NFI_B signaling in alveolar rhabdomyosarcoma. ( 28883017 )
2017
26
Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia. ( 29096655 )
2017
27
Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma. ( 28646473 )
2017
28
An Infrequent Case of Adult Alveolar Rhabdomyosarcoma with Pancreatic Metastases Detected in F-18 FDG PET/CT. ( 28680211 )
2017
29
Synergistic Antitumour Properties of viscumTT in Alveolar Rhabdomyosarcoma. ( 28791312 )
2017
30
Pleural Alveolar Rhabdomyosarcoma. ( 29035460 )
2017
31
Life-Threatening Irinotecan-Induced Toxicity in an Adult Patient with Alveolar Rhabdomyosarcoma: The Role of a UGT1A1 Polymorphism. ( 29098099 )
2017
32
MET/ERK2 pathway regulates the motility of human alveolar rhabdomyosarcoma cells. ( 27840956 )
2017
33
Survival With Persistent Metastatic Alveolar Rhabdomyosarcoma. ( 28195812 )
2017
34
Novel Roles for Staufen1 in Embryonal and Alveolar Rhabdomyosarcoma via c-myc-dependent and -independent events. ( 28211476 )
2017
35
Rare pattern of relapse to the pancreas and bilateral extraocular muscles in paediatric alveolar rhabdomyosarcoma. ( 28295798 )
2017
36
The proprotein convertase furin is required to maintain viability of alveolar rhabdomyosarcoma cells. ( 27572312 )
2016
37
Breast relapse after metastatic alveolar rhabdomyosarcoma: Is it an incurable entity? ( 27168712 )
2016
38
P/CAF mediates PAX3-FOXO1-dependent oncogenesis in alveolar rhabdomyosarcoma. ( 27453350 )
2016
39
Alveolar rhabdomyosarcoma of the sphenoid sinus mimicking optic neuritis presenting with intermittent visual loss in an adult. ( 27932889 )
2016
40
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma. ( 27760049 )
2016
41
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome. ( 27345568 )
2016
42
Alveolar rhabdomyosarcoma of maxilla. ( 27194887 )
2016
43
Severe Tumor Lysis Syndrome and Acute Pulmonary Edema Requiring Extracorporeal Membrane Oxygenation Following Initiation of Chemotherapy for Metastatic Alveolar Rhabdomyosarcoma. ( 26713672 )
2016
44
Alveolar rhabdomyosarcoma mimicking Burkitt-like lymphoma. ( 27003894 )
2016
45
Inhibitory Effects of Resveratrol on the Human Alveolar Rhabdomyosarcoma Cell Line PLA-802 through Inhibition of the TGF-β1/Smad Signaling Pathway. ( 27008654 )
2016
46
RGD liposome-protamine-siRNA (LPR) nanoparticles targeting PAX3-FOXO1 for alveolar rhabdomyosarcoma therapy. ( 27261335 )
2016
47
Alveolar rhabdomyosarcoma: morphoproteomics and personalized tumor graft testing further define the biology of PAX3-FKHR(FOXO1) subtype and provide targeted therapeutic options. ( 27323832 )
2016
48
Alveolar Rhabdomyosarcoma of the foot metastasizing to the Iris: report of a rare case. ( 27401166 )
2016
49
Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature. ( 27756397 )
2016
50
Fusion transcriptome profiling provides insights into alveolar rhabdomyosarcoma. ( 27799565 )
2016

Variations for Rhabdomyosarcoma 2

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 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 28
2 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 28
3 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 28
4 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1636C>A p.Q546K 3:179218306-179218306 28
5 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1624G>A p.E542K 3:179218294-179218294 28
6 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.38G>A p.G13D 12:25245347-25245347 28
7 COSM1042370 EIF4A2 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.854A>G p.K285R 3:186787209-186787209 28
8 COSM6909274 DOT1L soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1826T>A p.L609Q 19:2214499-2214499 28
9 COSM12475 CDKN2A soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.238C>T p.R80* 9:21971121-21971121 28
10 COSM6948085 APC soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.2335T>G p.L779V 5:112837929-112837929 28
11 COSM6909273 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1826T>A p.L609Q 19:2214499-2214499 28
12 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 16
13 COSM10648 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.524G>A p.R175H 17:7675088-7675088 16
14 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 16
15 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 16
16 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 16
17 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 16
18 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 16
19 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 16
20 COSM10725 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.701A>G p.Y234C 17:7674262-7674262 16
21 COSM6986214 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 16
22 COSM6945139 RICTOR soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.2898-1G>T p.? 5:38952426-38952426 16
23 COSM6986215 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 16
24 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 16
25 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 16
26 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 12:112489084-112489084 16
27 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 16
28 COSM6986208 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 16
29 COSM6910708 POLE soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 16
30 COSM1083818 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 16
31 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 16
32 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 16
33 COSM6914067 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 16
34 COSM6964921 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 16
35 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 16
36 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 1:114713907-114713907 16
37 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 16
38 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 16
39 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 16
40 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 16
41 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 16
42 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 16
43 COSM6910706 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 16
44 COSM6933086 NF1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 16
45 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 12:25245351-25245351 16
46 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>C p.G12A 12:25245350-25245350 16
47 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 12:25227342-25227342 16
48 COSM6930430 KMT2D soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 16
49 COSM2965310 KDM6A soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.493C>T p.R165* 23:45020659-45020659 16
50 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 11:534286-534286 16

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

Pathways related to Rhabdomyosarcoma 2 according to KEGG:

37
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

GO Terms for Rhabdomyosarcoma 2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
2 regulation of transcription, DNA-templated GO:0006355 9.92 EWSR1 FOXO1 MYCN MYOD1 MYOG PAX3
3 heart development GO:0007507 9.83 MB MDM2 TH WT1
4 regulation of gene expression GO:0010468 9.78 CDK4 MDM2 MYOD1 PAX7
5 positive regulation of transcription, DNA-templated GO:0045893 9.73 FOXO1 MYCN MYOD1 MYOG PAX3 WT1
6 cellular response to growth factor stimulus GO:0071363 9.63 MDM2 MYOG TH
7 myoblast differentiation GO:0045445 9.56 MYOD1 MYOG
8 positive regulation of myoblast fusion GO:1901741 9.55 MYOD1 MYOG
9 myotube differentiation GO:0014902 9.54 MYOD1 MYOG
10 skeletal muscle tissue development GO:0007519 9.54 MYOD1 MYOG PAX7
11 cellular response to alkaloid GO:0071312 9.51 MDM2 TH
12 positive regulation of skeletal muscle fiber development GO:0048743 9.49 MYOD1 MYOG
13 negative regulation of apoptotic process GO:0043066 9.43 ALK FOXO1 IGF1R MDM2 PAX7 WT1
14 muscle cell fate commitment GO:0042693 9.4 MYOD1 MYOG
15 response to ether GO:0045472 9.16 MDM2 TH
16 muscle organ development GO:0007517 8.92 MYOD1 MYOG PAX3 PAX7

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
2 sequence-specific DNA binding GO:0043565 9.43 FOXO1 MYOD1 MYOG PAX3 PAX7 WT1
3 DNA-binding transcription factor activity GO:0003700 9.17 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7

Sources for Rhabdomyosarcoma 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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