ERMS
MCID: EMB005
MIFTS: 53

Embryonal Rhabdomyosarcoma (ERMS)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Embryonal Rhabdomyosarcoma

MalaCards integrated aliases for Embryonal Rhabdomyosarcoma:

Name: Embryonal Rhabdomyosarcoma 12 53 29 6 15
Rhabdomyosarcoma, Embryonal 76 44 40 73
Rhabdomyosarcoma Embryonal 53 55
Botryoid Rhabdomyosarcoma 53 73
Spindle Cell Rhabdomyosarcomas 53
Erms 53

Classifications:



External Ids:

Disease Ontology 12 DOID:3246
MeSH 44 D018233
NCIt 50 C8971
SNOMED-CT 68 14269005

Summaries for Embryonal Rhabdomyosarcoma

Disease Ontology : 12 A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.

MalaCards based summary : Embryonal Rhabdomyosarcoma, also known as rhabdomyosarcoma, embryonal, is related to botryoid rhabdomyosarcoma and spindle cell rhabdomyosarcoma. An important gene associated with Embryonal Rhabdomyosarcoma is PAX3 (Paired Box 3), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Immune response Function of MEF2 in T lymphocytes. The drugs Femara and Tarceva have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, prostate and cervix, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 76 Sarcoma botryoides or botryoid sarcoma or botryoid rhabdomyosarcoma is a subtype of embryonal... more...

Related Diseases for Embryonal Rhabdomyosarcoma

Diseases in the Embryonal Rhabdomyosarcoma family:

Rhabdomyosarcoma, Embryonal, 2 Rhabdomyosarcoma, Embryonal, 1

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

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 botryoid rhabdomyosarcoma 32.7 DES MB MYOD1 PAX3
2 spindle cell rhabdomyosarcoma 32.6 DES MB MYOD1
3 orbit rhabdomyosarcoma 30.9 MB MYOG
4 ectomesenchymoma 30.3 DES FOXO1 HRAS
5 soft tissue sarcoma 30.3 EWSR1 FOXO1
6 gallbladder sarcoma 30.3 DES MYOD1 MYOG
7 embryonal sarcoma 30.1 DES MYOD1 MYOG
8 cystic nephroma 30.1 DES DICER1
9 malignant ectomesenchymoma 29.9 DES FOXO1 HRAS
10 pleuropulmonary blastoma 29.9 DICER1 MB MYCN
11 leiomyosarcoma 29.9 DES IGF2 MB MYOG
12 rhabdomyosarcoma 29.8 DES DICER1 EWSR1 FOXO1 IGF2 MB
13 medullomyoblastoma 29.5 DES MB MYCN MYOD1 MYOG
14 rhabdomyosarcoma 2 29.1 DES EWSR1 FOXO1 MB MYCN MYOD1
15 parameningeal embryonal rhabdomyosarcoma 12.6
16 vagina botryoid rhabdomyosarcoma 12.5
17 adult botryoid rhabdomyosarcoma 12.5
18 adult vagina botryoid rhabdomyosarcoma 12.5
19 prostate embryonal rhabdomyosarcoma 12.4
20 orbit embryonal rhabdomyosarcoma 12.4
21 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.2
22 rhabdomyosarcoma, embryonal, 1 11.4
23 rhabdomyosarcoma, embryonal, 2 11.3
24 embryonal extrahepatic bile duct rhabdomyosarcoma 11.2
25 mixed type rhabdomyosarcoma 11.2
26 childhood botryoid rhabdomyosarcoma 11.2
27 childhood vagina botryoid rhabdomyosarcoma 11.2
28 sarcoma 10.5
29 mycobacterium abscessus 10.5
30 pulmonary blastoma 10.3 DES DICER1
31 kidney sarcoma 10.2 DICER1 MB
32 giant cell myocarditis 10.2 DES MB
33 myofibroma 10.2 DES MB
34 costello syndrome 10.2
35 spindle cell lipoma 10.2 DES FOXO1
36 adenosarcoma 10.2 DES MB
37 malignant fibrous histiocytoma of bone 10.2 DES MYOD1
38 horner's syndrome 10.2 DES MYOD1
39 undifferentiated embryonal sarcoma of the liver 10.2 MYOD1 MYOG
40 breast cancer 10.2
41 dedifferentiated liposarcoma 10.2 DES MB
42 pseudosarcomatous fibromatosis 10.2 DES MYOG
43 gas gangrene 10.1 MB MYOD1
44 kidney rhabdoid cancer 10.1 EWSR1 MB
45 biphasic synovial sarcoma 10.1 DES EWSR1
46 differentiated thyroid carcinoma 10.1 DES DICER1 HRAS
47 spindle cell liposarcoma 10.1 MYOD1 MYOG
48 mesenchymoma 10.1 DES MB MYOD1
49 cellular myxoid liposarcoma 10.1 EWSR1 PAX7
50 malignant triton tumor 10.1 DES MB MYOD1

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



Diseases related to Embryonal Rhabdomyosarcoma

Symptoms & Phenotypes for Embryonal Rhabdomyosarcoma

MGI Mouse Phenotypes related to Embryonal Rhabdomyosarcoma:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 DES DICER1 FOXO1 HRAS IGF2 MYCN
2 cardiovascular system MP:0005385 10.33 DES DICER1 FOXO1 HRAS IGF2 MB
3 growth/size/body region MP:0005378 10.31 DICER1 FOXO1 HRAS IGF2 MB MYCN
4 homeostasis/metabolism MP:0005376 10.29 DES DICER1 FOXO1 HRAS IGF2 MB
5 cellular MP:0005384 10.28 DES DICER1 FOXO1 IGF2 MB MYCN
6 embryo MP:0005380 10.26 DICER1 FOXO1 IGF2 MB MYCN MYOG
7 mortality/aging MP:0010768 10.25 DES DICER1 FOXO1 HRAS IGF2 MB
8 craniofacial MP:0005382 10.18 DICER1 FOXO1 HRAS IGF2 MYCN PAX3
9 muscle MP:0005369 10.18 DES DICER1 FOXO1 IGF2 MB MYCN
10 digestive/alimentary MP:0005381 10.17 FOXO1 HRAS IGF2 MYCN PAX3 PAX7
11 endocrine/exocrine gland MP:0005379 10.15 DICER1 FOXO1 HRAS IGF2 PAX3 PAX7
12 hematopoietic system MP:0005397 10.13 DICER1 FOXO1 IGF2 MB MYCN PAX3
13 integument MP:0010771 10.1 DICER1 FOXO1 HRAS IGF2 MYOG PAX3
14 no phenotypic analysis MP:0003012 10.02 DICER1 FOXO1 HRAS IGF2 MYCN MYOD1
15 neoplasm MP:0002006 9.97 DICER1 FOXO1 HRAS MYOD1 PAX3 PAX7
16 limbs/digits/tail MP:0005371 9.95 DICER1 FOXO1 IGF2 MYCN PAX3 PTCH1
17 liver/biliary system MP:0005370 9.93 DICER1 FOXO1 IGF2 MYCN PAX3 YAP1
18 normal MP:0002873 9.91 DICER1 FOXO1 HRAS MYCN MYOD1 MYOG
19 renal/urinary system MP:0005367 9.7 DICER1 HRAS IGF2 MYCN PAX3 PTCH1
20 respiratory system MP:0005388 9.7 DICER1 HRAS IGF2 MB MYCN MYOD1
21 skeleton MP:0005390 9.32 DICER1 FOXO1 HRAS IGF2 MYCN MYOD1

Drugs & Therapeutics for Embryonal Rhabdomyosarcoma

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Femara 18 49 LETROZOLE Novartis January 2001
2
Tarceva 18 49 ERLOTINIB HYDROCHLORIDE Genentech, OSI Pharmaceuticals November, 2004
3
Zoladex 18 49 GOSERELIN ACETATE AstraZeneca January 1996
4
Zometa 18 49 ZOLEDRONIC ACID Novartis August 2001/ February 2002
5
Advair 18 FLUTICASONE PROPIONATE; SALMETEROL XINAFOATE GlaxoSmithKline August 2000

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 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 53123-88-9 46835353 6436030 5284616
7
Everolimus Approved Phase 3 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 3 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 Antibiotics, Antitubercular Phase 3,Phase 2
13 Antineoplastic Agents, Alkylating Phase 3,Phase 2
14 Antirheumatic Agents Phase 3,Phase 2
15 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
16 Antimitotic Agents Phase 3,Phase 2
17 Anti-Bacterial Agents Phase 3,Phase 2
18 Immunologic Factors Phase 3,Phase 2,Phase 1
19 Anti-Infective Agents Phase 3,Phase 2
20 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
21 Topoisomerase Inhibitors Phase 3,Phase 2
22 topoisomerase I inhibitors Phase 3,Phase 2
23 Antifungal Agents Phase 3
24
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
25
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
26
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
27
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
28
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
29
Ifosfamide Approved Phase 2 3778-73-2 3690
30
Etoposide Approved Phase 2 33419-42-0 36462
31
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
32
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
33
Doxil Approved June 1999 Phase 2 31703
34 Vaccines Phase 1, Phase 2
35 Keyhole-limpet hemocyanin Phase 1, Phase 2
36
Isophosphamide mustard Phase 2 0
37 Keratolytic Agents Phase 2
38 Etoposide phosphate Phase 2
39 Podophyllotoxin Phase 2 518-28-5
40 Antibodies Phase 2,Phase 1
41 Dermatologic Agents Phase 2
42 Antibodies, Monoclonal Phase 2,Phase 1
43 Immunoglobulins Phase 2,Phase 1
44 Protein Kinase Inhibitors Phase 2,Phase 1
45 Imatinib Mesylate Phase 2 220127-57-1 123596
46 insulin Phase 1, Phase 2
47 Mitogens Phase 1, Phase 2
48 Insulin, Globin Zinc Phase 1, Phase 2
49
Formaldehyde Approved, Vet_approved 50-00-0 712

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 Vincristine, Dactinomycin, and Cyclophosphamide in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245089 Phase 2 cyclophosphamide;vincristine sulfate
4 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245141 Phase 2 cyclophosphamide;vincristine sulfate
5 Therapy to Treat Ewing's Sarcoma, Rhabdomyosarcoma or Neuroblastoma Completed NCT00923351 Phase 1, Phase 2 Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
6 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
7 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
8 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
9 Studying Mechanisms of Radiation Therapy Resistance in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01626170
10 Biomarkers in Patients With Advanced Rhabdomyosarcoma Completed NCT01668095
11 Collecting Tumor Samples From Patients With Gynecological Tumors Completed NCT00897442
12 Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma Recruiting NCT03296371
13 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
14 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903
15 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597

Search NIH Clinical Center for Embryonal Rhabdomyosarcoma

Cochrane evidence based reviews: rhabdomyosarcoma, embryonal

Genetic Tests for Embryonal Rhabdomyosarcoma

Genetic tests related to Embryonal Rhabdomyosarcoma:

# Genetic test Affiliating Genes
1 Embryonal Rhabdomyosarcoma 29

Anatomical Context for Embryonal Rhabdomyosarcoma

MalaCards organs/tissues related to Embryonal Rhabdomyosarcoma:

41
Skeletal Muscle, Prostate, Cervix, Breast, Bone, Liver, Kidney

Publications for Embryonal Rhabdomyosarcoma

Articles related to Embryonal Rhabdomyosarcoma:

(show top 50) (show all 515)
# Title Authors Year
1
Embryonal rhabdomyosarcoma of urinary bladder in an adult patient: an unusual manifestation. ( 29654103 )
2018
2
Giant intrascrotal embryonal rhabdomyosarcoma in an adult: a case report and review of theA literature. ( 29804543 )
2018
3
Small round cell myofibroblastoma of the oral cavity: A tumor mimicking embryonal rhabdomyosarcoma. ( 29487010 )
2018
4
DICER1 mutation-positive Giant Botryoid Fibroepithelial polyp of the urinary bladder mimicking embryonal rhabdomyosarcoma. ( 29883781 )
2018
5
Pediatric Robotic Prostatectomy and Pelvic Lymphadenectomy for Embryonal Rhabdomyosarcoma. ( 29702157 )
2018
6
Corrigendum: Ermoian RP, Breneman J, Walterhouse DO, etA al. 45A Gy is not sufficient radiotherapy dose for Group III orbital embryonal rhabdomyosarcoma after less than complete response to 12A weeks of ARST0331 chemotherapy. Pediatr Blood Cancer. 2017;64:E26540. https://doi.org/10.1002/pbc.26540. ( 29679530 )
2018
7
Prosthetic rehabilitation for a patient treated for embryonal rhabdomyosarcoma. ( 29551375 )
2018
8
tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish. ( 30192230 )
2018
9
Successful treatment of relapsed testicular embryonal rhabdomyosarcoma with Endostar and traditional chemotherapy: a case report. ( 30214234 )
2018
10
Embryonal rhabdomyosarcoma within abdomen and pelvis in an adult. ( 30350743 )
2018
11
Analysis of the relationship between the KRAS G12V oncogene and the Hippo effector YAP1 in embryonal rhabdomyosarcoma. ( 30353028 )
2018
12
PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines. ( 30357520 )
2018
13
A rare pure embryonal rhabdomyosarcoma of the urinary bladder in an adult successfully managed with neoadjuvant chemotherapy and surgery: a case report. ( 30390704 )
2018
14
Laparoscopic Radical Trachelectomy for Embryonal Rhabdomyosarcoma of the Cervix in a 2-Year-Old Girl. ( 30399094 )
2018
15
12-O-tetradecanoylphorbol-13-acetate and EZH2 inhibition: A novel approach for promoting myogenic differentiation in embryonal rhabdomyosarcoma cells. ( 28722764 )
2018
16
Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations. ( 29230040 )
2018
17
The prognosis and effects of local treatment strategies for orbital embryonal rhabdomyosarcoma: a population-based study. ( 29983592 )
2018
18
Diagnosis and Multimodal Treatment of Metastatic Maxillofacial Juvenile Embryonal Rhabdomyosarcoma in a Young Golden Retriever. ( 30040001 )
2018
19
Embryonal Rhabdomyosarcoma (Botryoid Subtype) Affecting the Buccal Mucosa. ( 30094776 )
2018
20
Massive Embryonal Rhabdomyosarcoma of the Hand in an Infant With Metastasis at Birth: Management Dilemma. ( 28718313 )
2017
21
A Novel Notch-YAP Circuit Drives Stemness and Tumorigenesis in Embryonal Rhabdomyosarcoma. ( 28923841 )
2017
22
A rare case of embryonal rhabdomyosarcoma of the parapharyngeal space. ( 28530261 )
2017
23
The prognostic value of early radiographic response in children and adolescents with embryonal rhabdomyosarcoma stage IV, metastases confined to the lungs: A report from the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 28306214 )
2017
24
The NOTCH1/SNAIL1/MEF2C Pathway Regulates Growth and Self-Renewal in Embryonal Rhabdomyosarcoma. ( 28614716 )
2017
25
Pharmacological targeting of the ephrin receptor kinase signalling by GLPG1790 in vitro and in vivo reverts oncophenotype, induces myogenic differentiation and radiosensitizes embryonal rhabdomyosarcoma cells. ( 28985758 )
2017
26
Clinicopathological analysis of concomitant hepatic embryonal rhabdomyosarcoma and hepatocellular carcinoma. ( 28554759 )
2017
27
A case report of concurrent embryonal rhabdomyosarcoma and diffuse large B-cell lymphoma in an adult without identifiable cancer predisposition. ( 28194276 )
2017
28
Embryonal Rhabdomyosarcoma of the Cervix: A Rare Disease at an Uncommon Age. ( 29375950 )
2017
29
Congenital embryonal rhabdomyosarcoma; multiple lesions. ( 28103501 )
2017
30
Embryonal rhabdomyosarcoma in the maxillary sinus with orbital involvement in a pediatric patient: Case report. ( 29291204 )
2017
31
Embryonal rhabdomyosarcoma of the biliary tree: A rare cause of obstructive jaundice in children which can mimic choledochal cysts. ( 29089679 )
2017
32
45 Gy is not sufficient radiotherapy dose for Group III orbital embryonal rhabdomyosarcoma after less than complete response to 12 weeks of ARST0331 chemotherapy: A report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group. ( 28548706 )
2017
33
When Chemotherapy Is Not Enough-Management of Prostatic Embryonal Rhabdomyosarcoma in an Infant. ( 29155187 )
2017
34
NELL1, whose high expression correlates with negative outcomes, has different methylation patterns in alveolar and embryonal rhabdomyosarcoma. ( 28380437 )
2017
35
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma. ( 28524158 )
2017
36
Pediatric Anaplastic Embryonal Rhabdomyosarcoma: Targeted Therapy Guided by Genetic Analysis and a Patient-Derived Xenograft Study. ( 29376028 )
2017
37
Mandibular embryonal rhabdomyosarcoma with cartilaginous metaplasia: report of a case and review of literature. ( 29029988 )
2017
38
Stage 1 embryonal rhabdomyosarcoma of the female genital tract: a retrospective clinical study of nine cases. ( 28173865 )
2017
39
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient. ( 28421158 )
2017
40
Frequent HRAS Mutations in Malignant Ectomesenchymoma: Overlapping Genetic Abnormalities With Embryonal Rhabdomyosarcoma. ( 26872011 )
2016
41
Survivin selective inhibitor YM155 promotes cisplatina89induced apoptosis in embryonal rhabdomyosarcoma. ( 26983495 )
2016
42
Embryonal rhabdomyosarcoma arising from the uterine corpus in a postmenopausal female: a surgical case challenging the genuine diagnosis on a cytology specimen. ( 26755204 )
2016
43
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. ( 27896549 )
2016
44
Spindle cell embryonal rhabdomyosarcoma of the prostate in an adult patient - case report and review of clinicopathological features. ( 27357857 )
2016
45
Embryonal Rhabdomyosarcoma of the Oral Cavity. ( 27743320 )
2016
46
Spindle Cell Variant of Embryonal Rhabdomyosarcoma: A Rare Entity with Diagnostic Challenges. ( 27656457 )
2016
47
Embryonal Rhabdomyosarcoma of the Oesophagus in a Young Dog. ( 27865423 )
2016
48
Myxoma virus therapy for human embryonal rhabdomyosarcoma in a nude mouse model. ( 27579297 )
2016
49
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. ( 27589201 )
2016
50
The Hippo effector TAZ (WWTR1) transforms myoblasts and its abundance is associated with reduced survival in embryonal rhabdomyosarcoma. ( 27184927 )
2016

Variations for Embryonal Rhabdomyosarcoma

ClinVar genetic disease variations for Embryonal Rhabdomyosarcoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.1508G> T (p.Gly503Val) single nucleotide variant Likely pathogenic rs397507546 GRCh37 Chromosome 12, 112926888: 112926888
2 PTPN11 NM_002834.4(PTPN11): c.1508G> T (p.Gly503Val) single nucleotide variant Likely pathogenic rs397507546 GRCh38 Chromosome 12, 112489084: 112489084

Cosmic variations for Embryonal Rhabdomyosarcoma:

9 (show all 16)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10654 TP53 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 21
2 COSM44720 TP53 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 21
3 COSM13016 PTPN11 soft tissue,bladder,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 21
4 COSM580 NRAS soft tissue,vagina,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 21
5 COSM532 KRAS soft tissue,bladder,rhabdomyosarcoma,embryonal c.38G>A p.G13D 12:25245347-25245347 21
6 COSM6930430 KMT2D soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 21
7 COSM99615 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 21
8 COSM3378350 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 21
9 COSM6930429 soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 21
10 COSM99616 soft tissue,vagina,rhabdomyosarcoma,embryonal c.241C>T p.R81* 17:7674894-7674894 21
11 COSM3732985 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 21
12 COSM99618 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 21
13 COSM3732987 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 21
14 COSM3732986 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 21
15 COSM99617 soft tissue,vagina,rhabdomyosarcoma,embryonal c.358C>T p.R120* 17:7674894-7674894 21
16 COSM1638393 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 21

Copy number variations for Embryonal Rhabdomyosarcoma from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 95623 15 78300000 102531392 Amplification Embryonal rhabdomyosarcoma
2 106824 17 1 24000000 Deletion Embryonal rhabdomyosarcoma
3 149787 2 93300000 243199373 Copy number Embryonal rhabdomyosarcoma
4 194807 5 144500000 180915260 Deletion Embryonal rhabdomyosarcoma
5 230851 8 1 45600000 Amplification Embryonal rhabdomyosarcoma

Expression for Embryonal Rhabdomyosarcoma

Search GEO for disease gene expression data for Embryonal Rhabdomyosarcoma.

Pathways for Embryonal Rhabdomyosarcoma

GO Terms for Embryonal Rhabdomyosarcoma

Cellular components related to Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.4 DES DICER1 EWSR1 FOXO1 HRAS MYCN

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.86 EWSR1 FOXO1 IGF2 MYCN MYOD1 MYOG
2 regulation of cell proliferation GO:0042127 9.75 FOXO1 PTCH1 YAP1
3 animal organ morphogenesis GO:0009887 9.62 HRAS IGF2 PAX3 PTCH1
4 cellular response to gamma radiation GO:0071480 9.58 HRAS YAP1
5 positive regulation of muscle cell differentiation GO:0051149 9.57 MYOD1 MYOG
6 skeletal muscle fiber development GO:0048741 9.56 MYOD1 MYOG
7 skeletal muscle tissue regeneration GO:0043403 9.55 MYOG PAX7
8 positive regulation of myoblast differentiation GO:0045663 9.54 MYOD1 MYOG
9 skeletal muscle tissue development GO:0007519 9.54 MYOD1 MYOG PAX7
10 myoblast differentiation GO:0045445 9.52 MYOD1 MYOG
11 positive regulation of myoblast fusion GO:1901741 9.51 MYOD1 MYOG
12 positive regulation of transcription, DNA-templated GO:0045893 9.5 FOXO1 MYCN MYOD1 MYOG PAX3 PTCH1
13 striated muscle cell differentiation GO:0051146 9.49 IGF2 MYOD1
14 dorsal/ventral neural tube patterning GO:0021904 9.48 PAX7 PTCH1
15 myotube differentiation GO:0014902 9.46 MYOD1 MYOG
16 muscle organ development GO:0007517 9.46 MYOD1 MYOG PAX3 PAX7
17 positive regulation of skeletal muscle fiber development GO:0048743 9.43 MYOD1 MYOG
18 muscle cell fate commitment GO:0042693 9.4 MYOD1 MYOG
19 positive regulation of transcription by RNA polymerase II GO:0045944 9.28 FOXO1 HRAS IGF2 MYCN MYOD1 MYOG

Molecular functions related to Embryonal Rhabdomyosarcoma 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 9.73 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
2 DNA binding GO:0003677 9.7 DICER1 FOXO1 MYCN MYOD1 MYOG PAX3
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 MYCN MYOD1 MYOG YAP1
4 sequence-specific DNA binding GO:0043565 9.35 FOXO1 MYOD1 MYOG PAX3 PAX7
5 DNA-binding transcription factor activity GO:0003700 9.1 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7

Sources for Embryonal Rhabdomyosarcoma

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
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38 LifeMap
40 LOVD
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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