PedAM

Pediatric Disease Annotations & Medicines


	embryonal rhabdomyosarcoma

Disease ID	451
Disease	embryonal rhabdomyosarcoma
Definition	A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)
Synonym	embryonal rhabdomyosarcoma (disorder) embryonal rhabdomyosarcoma (morphologic abnormality) embryonal rhabdomyosarcomas erms rhabdomyosarcoma, embryonal rhabdomyosarcoma, embryonal [disease/finding] rhabdomyosarcomas, embryonal
Orphanet	ORPHANET:99757
DOID	DOID:3246
UMLS	C0206656
MeSH	D018233
SNOMED-CT	SNOMEDCT_US_2016_09_01:404051002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0039538 \| teratoma \| 4 C1368910 \| mature teratoma \| 4 C0027708 \| nephroma \| 1 C0035412 \| rhabdomyosarcoma \| 1 C0007129 \| merkel cell carcinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) BUB1B \| 701 \| CTD_human MYOD1 \| 4654 \| CTD_human DMD \| 1756 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:120) 64132 \| XYLT2 \| DISEASES 1947 \| EFNB1 \| DISEASES 5594 \| MAPK1 \| DISEASES 6725 \| SRMS \| DISEASES 191 \| AHCY \| DISEASES 1158 \| CKM \| DISEASES 4618 \| MYF6 \| DISEASES 4617 \| MYF5 \| DISEASES 2735 \| GLI1 \| DISEASES 2026 \| ENO2 \| DISEASES 79923 \| NANOG \| DISEASES 7475 \| WNT6 \| DISEASES 10342 \| TFG \| DISEASES 4656 \| MYOG \| DISEASES 7389 \| UROD \| DISEASES 79414 \| LRFN3 \| DISEASES 4654 \| MYOD1 \| DISEASES 10389 \| SCML2 \| DISEASES 3741 \| KCNA5 \| DISEASES 10752 \| CHL1 \| DISEASES 57498 \| KIDINS220 \| DISEASES 1019 \| CDK4 \| DISEASES 6442 \| SGCA \| DISEASES 1975 \| EIF4B \| DISEASES 7305 \| TYROBP \| DISEASES 81930 \| KIF18A \| DISEASES 6855 \| SYP \| DISEASES 5290 \| PIK3CA \| DISEASES 7472 \| WNT2 \| DISEASES 3480 \| IGF1R \| DISEASES 7157 \| TP53 \| DISEASES 55527 \| FEM1A \| DISEASES 56929 \| FEM1C \| DISEASES 5723 \| PSPH \| DISEASES 1848 \| DUSP6 \| DISEASES 4613 \| MYCN \| DISEASES 6695 \| SPOCK1 \| DISEASES 10413 \| YAP1 \| DISEASES 701 \| BUB1B \| DISEASES 3815 \| KIT \| DISEASES 2264 \| FGFR4 \| DISEASES 201299 \| RDM1 \| DISEASES 64399 \| HHIP \| DISEASES 6469 \| SHH \| DISEASES 10818 \| FRS2 \| DISEASES 3611 \| ILK \| DISEASES 5604 \| MAP2K1 \| DISEASES 23261 \| CAMTA1 \| DISEASES 5897 \| RAG2 \| DISEASES 660 \| BMX \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 5591 \| PRKDC \| DISEASES 163 \| AP2B1 \| DISEASES 10956 \| OS9 \| DISEASES 4684 \| NCAM1 \| DISEASES 8648 \| NCOA1 \| DISEASES 245806 \| VGLL2 \| DISEASES 9242 \| MSC \| DISEASES 64764 \| CREB3L2 \| DISEASES 7490 \| WT1 \| DISEASES 6007 \| RHD \| DISEASES 5727 \| PTCH1 \| DISEASES 115557 \| ARHGEF25 \| DISEASES 55775 \| TDP1 \| DISEASES 2042 \| EPHA3 \| DISEASES 23462 \| HEY1 \| DISEASES 23583 \| SMUG1 \| DISEASES 4208 \| MEF2C \| DISEASES 23405 \| DICER1 \| DISEASES 4745 \| NELL1 \| DISEASES 10987 \| COPS5 \| DISEASES 4763 \| NF1 \| DISEASES 4151 \| MB \| DISEASES 4311 \| MME \| DISEASES 25937 \| WWTR1 \| DISEASES 6663 \| SOX10 \| DISEASES 4916 \| NTRK3 \| DISEASES 7150 \| TOP1 \| DISEASES 7003 \| TEAD1 \| DISEASES 800 \| CALD1 \| DISEASES 7058 \| THBS2 \| DISEASES 80328 \| ULBP2 \| DISEASES 10370 \| CITED2 \| DISEASES 1942 \| EFNA1 \| DISEASES 8038 \| ADAM12 \| DISEASES 51684 \| SUFU \| DISEASES 3725 \| JUN \| DISEASES 2021 \| ENDOG \| DISEASES 5081 \| PAX7 \| DISEASES 5095 \| PCCA \| DISEASES 29968 \| PSAT1 \| DISEASES 6839 \| SUV39H1 \| DISEASES 6756 \| SSX1 \| DISEASES 2262 \| GPC5 \| DISEASES 4609 \| MYC \| DISEASES 84964 \| ALKBH6 \| DISEASES 2308 \| FOXO1 \| DISEASES 4267 \| CD99 \| DISEASES 238 \| ALK \| DISEASES 53353 \| LRP1B \| DISEASES 5077 \| PAX3 \| DISEASES 174 \| AFP \| DISEASES 2737 \| GLI3 \| DISEASES 4773 \| NFATC2 \| DISEASES 2120 \| ETV6 \| DISEASES 4703 \| NEB \| DISEASES 23365 \| ARHGEF12 \| DISEASES 5609 \| MAP2K7 \| DISEASES 8091 \| HMGA2 \| DISEASES 6654 \| SOS1 \| DISEASES 3481 \| IGF2 \| DISEASES 10499 \| NCOA2 \| DISEASES 2130 \| EWSR1 \| DISEASES 4193 \| MDM2 \| DISEASES 57620 \| STIM2 \| DISEASES 1649 \| DDIT3 \| DISEASES 100288687 \| DUX4 \| DISEASES 653545 \| DUX4L5 \| DISEASES 161436 \| EML5 \| DISEASES
Locus	(Waiting for update.)

Disease ID	451
Disease	embryonal rhabdomyosarcoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0009792 \| Teratoma \| 4 HP:0002664 \| Neoplasia \| 2 HP:0000160 \| Small mouth \| 1 HP:0030741 \| Teratoma of the mediastinum \| 1 HP:0010784 \| Uterine tumor \| 1 HP:0100616 \| Testicular teratoma \| 1 HP:0002859 \| Rhabdomyosarcoma \| 1 HP:0030731 \| Carcinoma \| 1

Disease ID	451
Disease	embryonal rhabdomyosarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0432412 \| trisomy 8 C0346993 \| breast metastases C0027831 \| neurofibromatosis 1
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913529	23615277	3845	KRAS	umls:C0206656	BeFree	A KRAS(G12D)-induced zebrafish embryonal rhabdomyosarcoma was then used to assess the therapeutic effects of the small molecules.	0.000271442	2013	KRAS	12	25245350	C	T,G,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0206656	bortezomib	D000069286	-	rhabdomyosarcoma, embryonal	MESH:D018233	therapeutic	18342500

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

Web
Analytics