RMS2
MCID: RHB009
MIFTS: 48

Rhabdomyosarcoma 2, Alveolar (RMS2) malady

Categories: Genetic diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Rhabdomyosarcoma 2, Alveolar

Aliases & Descriptions for Rhabdomyosarcoma 2, Alveolar:

Name: Rhabdomyosarcoma 2, Alveolar 54 13
Alveolar Rhabdomyosarcoma 12 50 56 14 69
Rhabdomyosarcoma Alveolar 50 66 29 52
Alveolar Childhood Rhabdomyosarcoma 12 69
Rhabdomyosarcoma, Alveolar 54 42
Rhabdomyosarcoma 2 54 66
Pediatric Alveolar Rhabdomyosarcoma 12
Arms 50
Rmsa 66
Rms2 66

Characteristics:

HPO:

32
rhabdomyosarcoma 2, alveolar:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 268220
Disease Ontology 12 DOID:4051
MeSH 42 D018232
NCIt 47 C3749 C7958
SNOMED-CT 64 404053004 63449009
Orphanet 56 ORPHA99756
UMLS via Orphanet 70 C0206655
ICD10 via Orphanet 34 C49.9
MESH via Orphanet 43 D018232
MedGen 40 C0206655

Summaries for Rhabdomyosarcoma 2, Alveolar

UniProtKB/Swiss-Prot : 66 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, Alveolar, also known as alveolar rhabdomyosarcoma, is related to orbit alveolar rhabdomyosarcoma and rhabdomyosarcoma, and has symptoms including alveolar rhabdomyosarcoma An important gene associated with Rhabdomyosarcoma 2, Alveolar is PAX3 (Paired Box 3), and among its related pathways/superpathways are MAPK Signaling: Mitogen Stimulation Pathway and Glioblastoma Multiforme. The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include lung and skeletal muscle, and related phenotypes are cellular and cardiovascular system

Wikipedia : 71 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, Alveolar

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

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 orbit alveolar rhabdomyosarcoma 10.9
2 rhabdomyosarcoma 10.3
3 myoblastoma 10.3 MYOD1 PAX3 PAX7
4 rommen mueller sybert syndrome 10.3 CDK4 MDM2
5 endodermal sinus tumor 10.2 MB MDM2 MYOD1
6 subacute leukemia 10.2 MB MYOG
7 verruciform xanthoma of skin 10.2 DES MB MYOD1
8 intrahepatic bile duct cystadenoma 10.2 DES MB MYOD1
9 glaucoma iridogoniodysgenesia 10.2 DES MB
10 urinary tract obstruction 10.2 ENO2 MDM2 MYCN
11 transitional cell carcinoma 10.2 DES MB MYOD1
12 ovarian cystadenoma 10.2 DES MB MYOD1
13 breast rhabdomyosarcoma 10.2 DES ENO2 PAX3
14 extracutaneous mastocytoma 10.2 DES MB MYCN
15 hyperandrogenism 10.2 ENO2 MB MYCN
16 intracranial liposarcoma 10.2 CDK4 MB MDM2
17 childhood central nervous system primitive neuroectodermal neoplasm 10.2 ENO2 MDM2 MYCN
18 conjunctival disease 10.2 MYOD1 WT1
19 malignant mixed mullerian tumor 10.2 DES ENO2
20 small intestinal sarcoma 10.2 ENO2 MDM2 WT1
21 primary eye hypotony 10.2 CDK4 MDM2
22 osteomyelitis 10.2 CDK4 DES MDM2
23 heart leiomyosarcoma 10.2 DES MYOG
24 pinta disease 10.2 CDK4 ENO2 MDM2
25 episodic ataxia 10.2 CDK4 DES MDM2
26 advanced sleep-phase syndrome, familial, 2 10.2 DES MB MYOD1
27 house allergic alveolitis 10.2 CDK4 DES MDM2
28 hyperpituitarism 10.2 DES ENO2 MB
29 testis sarcoma 10.2 DES MYOD1 MYOG
30 ectopic pregnancy 10.2 DES MYOD1
31 nodular tenosynovitis 10.1 MYOD1 MYOG WT1
32 breast cancer 10.1
33 postmenopausal atrophic vaginitis 10.1 ENO2 MYCN TH
34 cystadenoma 10.1 ENO2 MYCN TH
35 ectodermal dysplasia 3, witkop type 10.1 CDK4 DES MDM2
36 extraosseous osteosarcoma 10.1 CDK4 DES MDM2 MYOD1
37 van regemorter pierquin vamos syndrome 10.1 DES MB MDM2 WT1
38 brain stem infarction 10.1 MB MYOD1 MYOG WT1
39 amyloidosis, hereditary, transthyretin-related 10.1 DES IGF1R MDM2
40 bile duct rhabdomyosarcoma 10.1 DES MB MYOD1 PAX3 PAX7
41 lung benign neoplasm 10.1 DES IGF1R MYOD1 WT1
42 amelogenesis imperfecta-gingival hyperplasia syndrome 10.1 CDK4 MDM2 MYOD1 MYOG
43 mixed type rhabdomyosarcoma 10.1 DES MB MYOD1 MYOG
44 liposarcoma 10.1 EWSR1 WT1
45 gliofibroma 10.1 ENO2 EWSR1 WT1
46 functionless pituitary adenoma 10.1 MB MDM2
47 juvenile xanthogranuloma 10.0 DES EWSR1 MYOD1
48 colorectal cancer 1 10.0 ENO2 EWSR1 WT1
49 congenital muscular dystrophy with hyperlaxity 10.0 DES ENO2 EWSR1
50 stickler syndrome, type i 10.0 CDK4 EWSR1 MDM2

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



Diseases related to Rhabdomyosarcoma 2, Alveolar

Symptoms & Phenotypes for Rhabdomyosarcoma 2, Alveolar

Symptoms by clinical synopsis from OMIM:

268220

Clinical features from OMIM:

268220

Human phenotypes related to Rhabdomyosarcoma 2, Alveolar:

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

MGI Mouse Phenotypes related to Rhabdomyosarcoma 2, Alveolar:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 DES ENO2 FOXO1 IGF1R KIDINS220 MB
2 cardiovascular system MP:0005385 10.33 CDK4 DES FOXO1 IGF1R KIDINS220 MB
3 growth/size/body region MP:0005378 10.32 IGF1R KIDINS220 MB MDM2 MYCN MYOD1
4 behavior/neurological MP:0005386 10.3 CDK4 DES ENO2 FOXO1 IGF1R MDM2
5 homeostasis/metabolism MP:0005376 10.25 IGF1R MB MDM2 MYCN MYOD1 MYOG
6 mortality/aging MP:0010768 10.21 CDK4 DES FOXO1 IGF1R KIDINS220 MB
7 embryo MP:0005380 10.19 CDK4 FOXO1 IGF1R MB MDM2 MYCN
8 hematopoietic system MP:0005397 10.16 CDK4 FOXO1 IGF1R MB MDM2 MYCN
9 muscle MP:0005369 10.1 CDK4 DES FOXO1 IGF1R MB MDM2
10 craniofacial MP:0005382 10.07 ENO2 FOXO1 IGF1R MDM2 MYCN PAX3
11 digestive/alimentary MP:0005381 10.05 CDK4 FOXO1 IGF1R MDM2 MYCN PAX3
12 liver/biliary system MP:0005370 10.01 CDK4 FOXO1 IGF1R MDM2 MYCN PAX3
13 neoplasm MP:0002006 9.91 WT1 CDK4 FOXO1 IGF1R MDM2 MYOD1
14 no phenotypic analysis MP:0003012 9.85 FOXO1 KIDINS220 MDM2 MYCN MYOD1 MYOG
15 normal MP:0002873 9.65 PAX3 PAX7 TH WT1 CDK4 FOXO1
16 respiratory system MP:0005388 9.32 ENO2 IGF1R MB MYCN MYOD1 MYOG

Drugs & Therapeutics for Rhabdomyosarcoma 2, Alveolar

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

(show top 50) (show all 88)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 498142 38904
2
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
3
Dactinomycin Approved Phase 3,Phase 2 50-76-0 2019 457193
4
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
5
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
6
Ifosfamide Approved Phase 3,Phase 2,Phase 1 3778-73-2 3690
7
Morphine Approved, Investigational Phase 3,Phase 1,Phase 2 57-27-2 5288826
8
Topotecan Approved, Investigational Phase 3,Phase 2 119413-54-6, 123948-87-8 60700
9
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
10
Vinorelbine Approved, Investigational Phase 3,Phase 2 71486-22-1 60780 44424639
11
Lenograstim Approved Phase 3,Phase 2 135968-09-1
12
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
13
Mechlorethamine Approved Phase 3,Phase 2,Phase 1 51-75-2 4033
14
Irinotecan Approved, Investigational Phase 3,Phase 2 97682-44-5, 100286-90-6 60838
15
Everolimus Approved Phase 3,Phase 2 159351-69-6 6442177
16
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
17
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 5284616 6436030 46835353
18
Cyproheptadine Approved Phase 3 129-03-3 2913
19
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
20
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
21
Camptothecin Experimental Phase 3,Phase 2 7689-03-4
22 Alkylating Agents Phase 3,Phase 2,Phase 1
23 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
24 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
25 Anti-Infective Agents Phase 3,Phase 2
26 Antimitotic Agents Phase 3,Phase 2
27 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
28 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
29 Antirheumatic Agents Phase 3,Phase 2
30 Etoposide phosphate Phase 3,Phase 2
31 Immunosuppressive Agents Phase 3,Phase 2
32 Isophosphamide mustard Phase 3,Phase 2,Phase 1
33 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
34 topoisomerase I inhibitors Phase 3,Phase 2
35 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
36 Adjuvants, Immunologic Phase 3
37 Antifungal Agents Phase 3,Phase 2
38 Dermatologic Agents Phase 3,Phase 2
39 Anti-Allergic Agents Phase 3
40 Antipruritics Phase 3
41 Gastrointestinal Agents Phase 3
42 Histamine Antagonists Phase 3
43 Histamine H1 Antagonists Phase 3
44
Histamine Phosphate Phase 3 51-74-1 65513
45 Neurotransmitter Agents Phase 3
46
Serotonin Phase 3 50-67-9 5202
47 Serotonin Agents Phase 3
48 Serotonin Antagonists Phase 3
49
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
50
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394

Interventional clinical trials:

(show top 50) (show all 53)
id Name Status NCT ID Phase
1 Combination Chemotherapy in Treating Young Patients With Nonmetastatic Rhabdomyosarcoma Unknown status NCT00379457 Phase 3
2 Combination Chemotherapy in Treating Patients With Previously Untreated Rhabdomyosarcoma Completed NCT00003958 Phase 3
3 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3
4 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3
5 Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Active, not recruiting NCT00354835 Phase 3
6 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Suspended NCT02567435 Phase 3
7 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3
8 Brostallicin or Doxorubicin as First-Line Therapy in Treating Patients With Relapsed, Refractory, or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2
9 Temozolomide in Treating Patients With Advanced Soft Tissue Sarcoma Unknown status NCT00003718 Phase 2
10 Temozolomide, Cixutumumab, and Combination Chemotherapy in Treating Patients With Metastatic Rhabdomyosarcoma Completed NCT01055314 Phase 2
11 Vinorelbine Tartrate and Cyclophosphamide in Combination With Bevacizumab or Temsirolimus in Treating Patients With Recurrent or Refractory Rhabdomyosarcoma Completed NCT01222715 Phase 2
12 A Study of R1507 in Participants With Recurrent or Refractory Sarcoma Completed NCT00642941 Phase 2
13 Comparison of Chemotherapy Regimens in Treating Children With Relapsed or Progressive Rhabdomyosarcoma Completed NCT00025363 Phase 2
14 Combination Chemotherapy in Treating Children With Metastatic Rhabdomyosarcoma or Other Malignant Mesenchymal Tumors Completed NCT00025441 Phase 2
15 Combination Chemotherapy Plus Radiation Therapy in Treating Patients With Metastatic Rhabdomyosarcoma or Sarcoma Completed NCT00003955 Phase 2
16 Ixabepilone in Treating Young Patients With Refractory Solid Tumors Completed NCT00331643 Phase 2
17 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2
18 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2
19 Imatinib Mesylate in Treating Patients With Advanced Soft Tissue Sarcoma or Bone Sarcoma Completed NCT00031915 Phase 2
20 Chemotherapy in Treating Children With Recurrent or Refractory Sarcomas Completed NCT00003745 Phase 2
21 Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer Completed NCT00002515 Phase 2
22 Perifosine in Treating Patients With Metastatic or Locally Advanced Soft Tissue Sarcoma Completed NCT00053794 Phase 2
23 BI 2536 in Treating Patients With Recurrent or Metastatic Solid Tumors Completed NCT00526149 Phase 2
24 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2
25 STI571 in Treating Patients With Recurrent or Refractory Soft Tissue Sarcoma Completed NCT00006357 Phase 1, Phase 2
26 Ecteinascidin 743 in Treating Patients With Advanced Soft Tissue Sarcoma Completed NCT00003939 Phase 2
27 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
28 A Two-Part Study of TB-403 in Pediatric Subjects With Relapsed or Refractory Medulloblastoma Recruiting NCT02748135 Phase 1, Phase 2
29 CREATE: Cross-tumoral Phase 2 With Crizotinib Recruiting NCT01524926 Phase 2
30 Gemcitabine Hydrochloride With or Without Pazopanib Hydrochloride in Treating Patients With Refractory Soft Tissue Sarcoma Recruiting NCT01532687 Phase 2
31 Autologous Dendritic Cell Vaccine Loaded With Allogeneic Tumor Lysate Expression of Cancer Testis Antigens in Patients With Soft Tissue Sarcoma Recruiting NCT01883518 Phase 1, Phase 2
32 Therapy to Treat Ewing's Sarcoma, Rhabdomyosarcoma or Neuroblastoma Active, not recruiting NCT00923351 Phase 1, Phase 2
33 Irinotecan and Carboplatin as Upfront Window Therapy in Treating Patients With Newly Diagnosed Intermediate-Risk or High-Risk Rhabdomyosarcoma Active, not recruiting NCT00077285 Phase 2
34 Trial of Dasatinib in Advanced Sarcomas Active, not recruiting NCT00464620 Phase 2
35 Cixutumumab and Temsirolimus in Treating Younger Patients With Recurrent or Refractory Sarcoma Active, not recruiting NCT01614795 Phase 2
36 Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors Not yet recruiting NCT02867592 Phase 2
37 Intensity-Modulated Radiation Therapy in Treating Patients Undergoing Surgery for Stage IB, Stage II, or Stage III Soft Tissue Sarcoma Terminated NCT00740597 Phase 2
38 Safety Study of Seneca Valley Virus in Patients With Solid Tumors With Neuroendocrine Features Unknown status NCT00314925 Phase 1
39 Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma Completed NCT00720174 Phase 1
40 Liposomal Doxorubicin Plus Ifosfamide in Treating Patients With Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00030784 Phase 1
41 Studying Protein Expression in Tissue Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01609803
42 Studying Mechanisms of Radiation Therapy Resistance in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01626170
43 Biomarkers in Patients With Advanced Rhabdomyosarcoma Completed NCT01668095
44 Studying Genes in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01585376
45 Biomarkers in Tumor Tissue Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01496573
46 Protein Expression in Samples From Young Patients With Rhabdomyosarcoma Completed NCT01426945
47 Biomarker in Tumor Tissue Samples From Patients With Rhabdomyosarcoma Completed NCT01365962
48 Studying Biomarkers in Samples From Patients With Rhabdomyosarcoma Completed NCT01433237
49 DNA Tests in Detecting Disseminated Disease in Tumor, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma Completed NCT01419509
50 Combination Chemotherapy in Treating Patients With Sarcoma Completed NCT00662233

Search NIH Clinical Center for Rhabdomyosarcoma 2, Alveolar

Cochrane evidence based reviews: rhabdomyosarcoma, alveolar

Genetic Tests for Rhabdomyosarcoma 2, Alveolar

Genetic tests related to Rhabdomyosarcoma 2, Alveolar:

id Genetic test Affiliating Genes
1 Rhabdomyosarcoma Alveolar 29

Anatomical Context for Rhabdomyosarcoma 2, Alveolar

MalaCards organs/tissues related to Rhabdomyosarcoma 2, Alveolar:

39
Lung, Skeletal Muscle

Publications for Rhabdomyosarcoma 2, Alveolar

Variations for Rhabdomyosarcoma 2, Alveolar

Cosmic variations for Rhabdomyosarcoma 2, Alveolar:

9 (show top 50) (show all 56)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 25
2 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 25
3 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 25
4 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1636C>A p.Q546K 25
5 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.38G>A p.G13D 25
6 COSM12475 CDKN2A soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.238C>T p.R80* 25
7 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 14
8 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 14
9 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 14
10 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 14
11 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 14
12 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 14
13 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 14
14 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 14
15 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 14
16 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1624G>A p.E542K 14
17 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 14
18 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 14
19 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 14
20 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 14
21 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 14
22 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 14
23 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 14
24 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 14
25 COSM1745010 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.365T>G p.L122R 14
26 COSM521 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 14
27 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 14
28 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 14
29 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>C p.G12A 14
30 COSM483 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>T p.G12V 14
31 COSM480 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 14
32 COSM496 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 14
33 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 14
34 COSM481 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 14
35 COSM3744763 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5428G>T p.D1810Y 14
36 COSM959251 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5113G>A p.E1705K 14
37 COSM3738459 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5437G>A p.E1813K 14
38 COSM4169595 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5425G>A p.G1809R 14
39 COSM3738549 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5365-1G>T p.? 14
40 COSM3738451 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5439G>T p.E1813D 14
41 COSM393242 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2062C>T p.R688* 14
42 COSM5664 CTNNB1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.121A>G p.T41A 14
43 COSM5692 CTNNB1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.134C>A p.S45Y 14
44 COSM1651691 ALK soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3830T>C p.I1277T 14
45 COSM143842 ALK soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3673G>A p.D1225N 14
46 COSM99938 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 14
47 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 13
48 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 13
49 COSM1235326 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3023C>T p.S1008F 13
50 COSM762 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1625A>T p.E542V 13

Copy number variations for Rhabdomyosarcoma 2, Alveolar from CNVD:

7
id 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, Alveolar

Search GEO for disease gene expression data for Rhabdomyosarcoma 2, Alveolar.

Pathways for Rhabdomyosarcoma 2, Alveolar

GO Terms for Rhabdomyosarcoma 2, Alveolar

Cellular components related to Rhabdomyosarcoma 2, Alveolar according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.1 CDK4 EWSR1 FAM193B MDM2 MYCN WT1

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter GO:0006357 9.92 FOXO1 MYCN MYOD1 PAX3 WT1
2 negative regulation of apoptotic process GO:0043066 9.91 FOXO1 IGF1R MDM2 PAX7 WT1
3 heart development GO:0007507 9.8 MB MDM2 TH WT1
4 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.8 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
5 regulation of gene expression GO:0010468 9.76 CDK4 MDM2 MYOD1 PAX7
6 positive regulation of transcription, DNA-templated GO:0045893 9.63 FOXO1 MYCN MYOD1 MYOG PAX3 WT1
7 cellular response to growth factor stimulus GO:0071363 9.58 MDM2 MYOG TH
8 positive regulation of myoblast fusion GO:1901741 9.56 MYOD1 MYOG
9 myoblast differentiation GO:0045445 9.55 MYOD1 MYOG
10 myotube differentiation GO:0014902 9.54 MYOD1 MYOG
11 skeletal muscle tissue development GO:0007519 9.5 MYOD1 MYOG PAX7
12 cellular response to alkaloid GO:0071312 9.48 MDM2 TH
13 positive regulation of skeletal muscle fiber development GO:0048743 9.43 MYOD1 MYOG
14 muscle cell fate commitment GO:0042693 9.37 MYOD1 MYOG
15 response to ether GO:0045472 8.96 MDM2 TH
16 muscle organ development GO:0007517 8.92 MYOD1 MYOG PAX3 PAX7

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.5 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
2 sequence-specific DNA binding GO:0043565 9.1 FOXO1 MYOD1 MYOG PAX3 PAX7 WT1

Sources for Rhabdomyosarcoma 2, Alveolar

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