RMS2
MCID: RHB024
MIFTS: 57

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 58 76
Alveolar Rhabdomyosarcoma 12 54 60 30 6 15 17 74
Rhabdomyosarcoma Alveolar 54 76 56 41
Rhabdomyosarcoma, Alveolar 58 77 45
Alveolar Childhood Rhabdomyosarcoma 12 74
Rhabdomyosarcoma 2, Alveolar 58 13
Rms2 58 76
Rmsa 58 76
Pediatric Alveolar Rhabdomyosarcoma 12
Rhabdomyosarcoma, Alveolar; Rmsa 58
Arms 54

Characteristics:

OMIM:

58
Inheritance:
somatic mutation


HPO:

33
rhabdomyosarcoma 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:4051
OMIM 58 268220
MeSH 45 D018232
NCIt 51 C3749 C7958
SNOMED-CT 69 63449009
MESH via Orphanet 46 D018232
ICD10 via Orphanet 35 C49.9
UMLS via Orphanet 75 C0206655
Orphanet 60 ORPHA99756
MedGen 43 C0206655
SNOMED-CT via HPO 70 258211005 404053004

Summaries for Rhabdomyosarcoma 2

UniProtKB/Swiss-Prot : 76 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 Pathways in cancer and Glioma. The drugs Morphine and Irinotecan have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and bone marrow, and related phenotypes are alveolar rhabdomyosarcoma and growth/size/body region

Wikipedia : 77 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 144)
# Related Disease Score Top Affiliating Genes
1 soft tissue sarcoma 30.4 EWSR1 FOXO1 MDM2
2 orbit rhabdomyosarcoma 30.4 MB MYOG
3 desmoplastic small round cell tumor 30.0 DES ENO2 EWSR1 WT1
4 sarcoma, synovial 30.0 DES IGF1R MDM2
5 alveolar soft part sarcoma 29.9 DES ENO2 MB MYOD1
6 breast rhabdomyosarcoma 29.4 FOXO1 KIDINS220 MB MYOD1 MYOG
7 embryonal rhabdomyosarcoma 29.0 DES EWSR1 FOXO1 MB MYCN MYOD1
8 wilms tumor 1 29.0 ENO2 EWSR1 IGF1R MYCN MYOG WT1
9 rhabdomyosarcoma 28.0 ALK CDK4 DES ENO2 EWSR1 FOXO1
10 ewing sarcoma 27.3 ALK CDK4 DES ENO2 EWSR1 FOXO1
11 mixed type rhabdomyosarcoma 11.3
12 orbit alveolar rhabdomyosarcoma 11.3
13 breast cancer 10.5
14 kidney sarcoma 10.4 MB WT1
15 adrenal neuroblastoma 10.4 ENO2 MYCN
16 ring chromosome 7 10.3 CDK4 MDM2
17 orbital cancer 10.3 ENO2 MB
18 giant cell myocarditis 10.3 DES MB
19 infiltrating angiolipoma 10.3 CDK4 MDM2
20 sclerosing liposarcoma 10.3 MB MDM2
21 primitive neuroectodermal tumor of the cervix uteri 10.3 DES ENO2
22 inflammatory mfh 10.3 CDK4 MDM2
23 cellular schwannoma 10.3 MDM2 PAX3 PAX7
24 conventional fibrosarcoma 10.3 ENO2 MDM2
25 myxofibrosarcoma 10.3 DES MDM2
26 epulis 10.3 DES ENO2
27 ossifying fibromyxoid tumor 10.3 DES ENO2
28 epithelioid leiomyosarcoma 10.3 DES ENO2
29 leukemia 10.3
30 myofibroma 10.3 DES MB
31 lipoblastoma 10.2 CDK4 MDM2
32 malignant triton tumor 10.2 DES MB MYOD1
33 neonatal hypoxic and ischemic brain injury 10.2 ENO2 TH
34 central nervous system mesenchymal non-meningothelial tumor 10.2 FOXO1 MYOD1 PAX3 PAX7
35 bone osteosarcoma 10.2 CDK4 MDM2
36 spindle cell rhabdomyosarcoma 10.2 DES MB MYOD1
37 pericardium cancer 10.2 ENO2 MB MYCN
38 bilateral retinoblastoma 10.2 DES MB MYCN
39 epithelioid cell melanoma 10.2 ENO2 WT1
40 malignant ectomesenchymoma 10.2 DES ENO2 FOXO1
41 ectomesenchymoma 10.2 DES ENO2 FOXO1
42 kidney clear cell sarcoma 10.2 ENO2 MB WT1
43 mixed liposarcoma 10.2 CDK4 MB MDM2
44 adult medulloblastoma 10.2 ENO2 MDM2 MYCN
45 heart sarcoma 10.2 ENO2 MDM2 WT1
46 childhood kidney cell carcinoma 10.2 ALK FOXO1 PAX3
47 sarcomatosis 10.2 EWSR1 WT1
48 chondroid lipoma 10.2 CDK4 ENO2 MDM2
49 atypical lipomatous tumor 10.2 CDK4 MDM2
50 small cell osteogenic sarcoma 10.2 ENO2 EWSR1

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:

33
# Description HPO Frequency HPO Source Accession
1 alveolar rhabdomyosarcoma 33 HP:0006779

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
alveolar rhabdomyosarcoma

Clinical features from OMIM:

268220

MGI Mouse Phenotypes related to Rhabdomyosarcoma 2:

47 (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 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 3,Phase 1,Phase 2 57-27-2 5288826
2
Irinotecan Approved, Investigational Phase 3,Phase 2 100286-90-6, 97682-44-5 60838
3
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
4
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
5
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
6
Everolimus Approved Phase 3,Phase 2 159351-69-6 70789204 6442177
7
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 46835353 5284616 6436030
9
Vinorelbine Approved, Investigational Phase 3,Phase 2 71486-22-1 44424639 60780
10
Camptothecin Experimental Phase 3,Phase 2 7689-03-4
11
Emodepside Investigational, Vet_approved Phase 3,Phase 2 155030-63-0
12 topoisomerase I inhibitors Phase 3,Phase 2
13 Antineoplastic Agents, Alkylating Phase 3,Phase 2
14 Antimitotic Agents Phase 3,Phase 2
15 Alkylating Agents Phase 3,Phase 2
16 Immunosuppressive Agents Phase 3,Phase 2
17 Anti-Infective Agents Phase 3,Phase 2
18 Antirheumatic Agents Phase 3,Phase 2
19 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
20 Anti-Bacterial Agents Phase 3,Phase 2
21 Immunologic Factors Phase 3,Phase 2,Phase 1
22 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
23 Antibiotics, Antitubercular Phase 3,Phase 2
24 Topoisomerase Inhibitors Phase 3,Phase 2
25 Antifungal Agents Phase 3,Phase 2
26
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
27
Ifosfamide Approved Phase 2 3778-73-2 3690
28
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
29
Etoposide Approved Phase 2 33419-42-0 36462
30
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
31
Bevacizumab Approved, Investigational Phase 2 216974-75-3
32
Indinavir Approved Phase 2 150378-17-9 5362440
33
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
34
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
35
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
36
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
37
Doxil Approved June 1999 Phase 2 31703
38 Antibodies, Monoclonal Phase 2,Phase 1
39 Podophyllotoxin Phase 2 518-28-5
40 Dermatologic Agents Phase 2
41 Etoposide phosphate Phase 2
42 Antibodies Phase 2,Phase 1
43
Isophosphamide mustard Phase 2 0
44 Keratolytic Agents Phase 2
45 Immunoglobulins Phase 2,Phase 1
46 Immunoglobulin G Phase 2
47 Endothelial Growth Factors Phase 2
48 Mitogens Phase 2,Phase 1
49 Angiogenesis Inhibitors Phase 2
50 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:

(show all 16)
# 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 Therapy to Treat Ewing's Sarcoma, Rhabdomyosarcoma or Neuroblastoma Completed NCT00923351 Phase 1, Phase 2 Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
7 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
8 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
9 CREATE: Cross-tumoral Phase 2 With Crizotinib Active, not recruiting NCT01524926 Phase 2 Crizotinib (PF-02341066)
10 Safety Study of Seneca Valley Virus in Patients With Solid Tumors With Neuroendocrine Features Unknown status NCT00314925 Phase 1 Seneca Valley Virus (biological agent)
11 Studying Protein Expression in Tissue Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01609803
12 Studying Mechanisms of Radiation Therapy Resistance in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01626170
13 Biomarkers in Patients With Advanced Rhabdomyosarcoma Completed NCT01668095
14 Collecting and Storing Tissue From Young Patients With Cancer Completed NCT00898755
15 Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma Recruiting NCT03296371
16 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 30 FOXO1 PAX3 PAX7

Anatomical Context for Rhabdomyosarcoma 2

MalaCards organs/tissues related to Rhabdomyosarcoma 2:

42
Bone, Skeletal Muscle, Bone Marrow, Kidney, Brain, Myeloid, T Cells

Publications for Rhabdomyosarcoma 2

Articles related to Rhabdomyosarcoma 2:

(show top 50) (show all 442)
# Title Authors Year
1
One-year survivor of adult alveolar rhabdomyosarcoma of the maxillary sinus with orbital extension: Case report: Erratum. ( 30681634 )
2019
2
NRF2 orchestrates the redox regulation induced by radiation therapy, sustaining embryonal and alveolar rhabdomyosarcoma cells radioresistance. ( 30701326 )
2019
3
Early detection of the PAX3-FOXO1 fusion gene in circulating tumor-derived DNA in a case of alveolar rhabdomyosarcoma. ( 30739374 )
2019
4
Epigenetic Regulation of the PTEN-AKT-RAC1 Axis by G9a Is Critical for Tumor Growth in Alveolar Rhabdomyosarcoma. ( 30833420 )
2019
5
Primary alveolar rhabdomyosarcoma of retrorectal-presacral space in an adult patient: A case report of an uncommon tumor with rare presentation. ( 30855432 )
2019
6
Primary Alveolar Rhabdomyosarcoma of the Breast in an Adult: An Extremely Rare Case. ( 31032134 )
2019
7
Adult Alveolar Rhabdomyosarcoma on Extremity, Successful Treatment with Radiotherapy following Chemotherapy: Serial Case Report. ( 31041178 )
2019
8
Exfoliation of alveolar rhabdomyosarcoma cells in the ascites of a 50-year-old woman: A diagnostic pitfall with a literature review. ( 31061253 )
2019
9
Berberis orthobotrys - A promising herbal anti-tumorigenic candidate for the treatment of pediatric alveolar rhabdomyosarcoma. ( 30315865 )
2019
10
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
11
Alveolar rhabdomyosarcoma presenting as a lung mass: an uncommon presentation of a less common tumor. ( 29588303 )
2018
12
Alveolar rhabdomyosarcoma in the cerebrospinal fluid. ( 29663721 )
2018
13
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
14
SNAIL is a key regulator of alveolar rhabdomyosarcoma tumor growth and differentiation through repression of MYF5 and MYOD function. ( 29844345 )
2018
15
PPP2R1A regulated by PAX3/FOXO1 fusion contributes to the acquisition of aggressive behavior in PAX3/FOXO1-positive alveolar rhabdomyosarcoma. ( 29861864 )
2018
16
Camptothecin exhibits topoisomerase1-independent KMT1A suppression and myogenic differentiation in alveolar rhabdomyosarcoma cells. ( 29899822 )
2018
17
Cytologic Diagnosis of Metastatic Alveolar Rhabdomyosarcoma in Cerebrospinal Fluid: A Case Report. ( 29902914 )
2018
18
Synchronous breast cancer and alveolar rhabdomyosarcoma bone marrow metastases. ( 30042812 )
2018
19
One-year survivor of adult alveolar rhabdomyosarcoma of the maxillary sinus with orbital extension: Case report. ( 30170378 )
2018
20
Autophagy modulates temozolomide-induced cell death in alveolar Rhabdomyosarcoma cells. ( 30416757 )
2018
21
Alveolar Rhabdomyosarcoma of the Breast in Adolescent Female. ( 30454495 )
2018
22
Successful treatment of metastatic alveolar rhabdomyosarcoma with MGMT gene promoter methylation by temozolomide-based combination chemotherapy. ( 28834127 )
2018
23
Hypercalcaemia secondary to ectopic parathyroid hormone expression in an adolescent with metastatic alveolar rhabdomyosarcoma. ( 28843052 )
2018
24
Sinonasal Tract Alveolar Rhabdomyosarcoma in Adults: A Clinicopathologic and Immunophenotypic Study of Fifty-Two Cases with Emphasis on Epithelial Immunoreactivity. ( 28875443 )
2018
25
Sphingosine Induces Apoptosis and Down-regulation of MYCN in PAX3-FOXO1-positive Alveolar Rhabdomyosarcoma Cells Irrespective of TP53 Mutation. ( 29277758 )
2018
26
PAX3-FOXO1 drives miR-486-5p and represses miR-221 contributing to pathogenesis of alveolar rhabdomyosarcoma. ( 29367756 )
2018
27
Importance of whole-body imaging with complete coverage of hands and feet in alveolar rhabdomyosarcoma staging. ( 29368010 )
2018
28
Regional Nodal Control for Head and Neck Alveolar Rhabdomyosarcoma. ( 29477293 )
2018
29
The Transcriptional Coactivator TAZ Is a Potent Mediator of Alveolar Rhabdomyosarcoma Tumorigenesis. ( 29514840 )
2018
30
Alveolar rhabdomyosarcoma in an adolescent male patient - case report and current perspectives. ( 30845308 )
2018
31
Alveolar rhabdomyosarcoma in a 6-month-old boy. ( 28501810 )
2018
32
Alveolar Rhabdomyosarcoma Decellularization. ( 28540560 )
2018
33
18F-FDG PET/CT as staging of alveolar rhabdomyosarcoma. ( 28576545 )
2018
34
Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia. ( 29096655 )
2017
35
An Infrequent Case of Adult Alveolar Rhabdomyosarcoma with Pancreatic Metastases Detected in F-18 FDG PET/CT. ( 28680211 )
2017
36
Synergistic Antitumour Properties of viscumTT in Alveolar Rhabdomyosarcoma. ( 28791312 )
2017
37
NFκB signaling in alveolar rhabdomyosarcoma. ( 28883017 )
2017
38
Pleural Alveolar Rhabdomyosarcoma. ( 29035460 )
2017
39
Life-Threatening Irinotecan-Induced Toxicity in an Adult Patient with Alveolar Rhabdomyosarcoma: The Role of a UGT1A1 Polymorphism. ( 29098099 )
2017
40
MET/ERK2 pathway regulates the motility of human alveolar rhabdomyosarcoma cells. ( 27840956 )
2017
41
Survival With Persistent Metastatic Alveolar Rhabdomyosarcoma. ( 28195812 )
2017
42
Novel Roles for Staufen1 in Embryonal and Alveolar Rhabdomyosarcoma via c-myc-dependent and -independent events. ( 28211476 )
2017
43
Rare pattern of relapse to the pancreas and bilateral extraocular muscles in paediatric alveolar rhabdomyosarcoma. ( 28295798 )
2017
44
Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma. ( 28646473 )
2017
45
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome. ( 27345568 )
2016
46
Alveolar rhabdomyosarcoma of the sphenoid sinus mimicking optic neuritis presenting with intermittent visual loss in an adult. ( 27932889 )
2016
47
Severe Tumor Lysis Syndrome and Acute Pulmonary Edema Requiring Extracorporeal Membrane Oxygenation Following Initiation of Chemotherapy for Metastatic Alveolar Rhabdomyosarcoma. ( 26713672 )
2016
48
P/CAF mediates PAX3-FOXO1-dependent oncogenesis in alveolar rhabdomyosarcoma. ( 27453350 )
2016
49
Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature. ( 27756397 )
2016
50
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma. ( 27760049 )
2016

Variations for Rhabdomyosarcoma 2

ClinVar genetic disease variations for Rhabdomyosarcoma 2:

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

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 0
2 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 0
3 COSM10648 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.524G>A p.R175H 17:7675088-7675088 0
4 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 0
5 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 0
6 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 0
7 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 0
8 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 0
9 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 0
10 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
11 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
12 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 0
13 COSM10725 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.701A>G p.Y234C 17:7674262-7674262 0
14 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 0
15 COSM6979022 SRC soft tissue,lung,sarcoma,NS c.205T>G p.S69A 20:37384358-37384358 0
16 COSM6986214 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 0
17 COSM6945139 RICTOR soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.2898-1G>T p.? 5:38952426-38952426 0
18 COSM389868 RAC1 soft tissue,lung,sarcoma,NS c.476C>T p.A159V 7:6402343-6402343 0
19 COSM6986215 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 0
20 COSM6979014 PTPRD soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 0
21 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 0
22 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 12:112489084-112489084 0
23 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 0
24 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 0
25 COSM6986208 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 0
26 COSM6959031 PTCH1 soft tissue,lung,sarcoma,NS c.2921T>G p.F974C 9:95458260-95458260 0
27 COSM6910708 POLE soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 0
28 COSM1083818 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 0
29 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1636C>A p.Q546K 3:179218306-179218306 0
30 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 0
31 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1624G>A p.E542K 3:179218294-179218294 0
32 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 0
33 COSM762 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1625A>T p.E542V 3:179218295-179218295 0
34 COSM1235326 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3023C>T p.S1008F 3:179234180-179234180 0
35 COSM6914067 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 0
36 COSM6979006 PBRM1 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 0
37 COSM6979021 PAK5 soft tissue,lung,sarcoma,NS c.41C>A p.P14Q 20:9644288-9644288 0
38 COSM6964921 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 0
39 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 0
40 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 0
41 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 0
42 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 1:114713907-114713907 0
43 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 0
44 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 0
45 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 0
46 COSM586 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>C p.Q61H 1:114713907-114713907 0
47 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 0
48 COSM6910706 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 0
49 COSM6933086 NF1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 0
50 COSM1745010 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.365T>G p.L122R 11:17720147-17720147 0

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 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 muscle cell fate commitment GO:0042693 9.4 MYOD1 MYOG
14 negative regulation of apoptotic process GO:0043066 9.35 FOXO1 IGF1R MDM2 PAX7 WT1
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....