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encyclopedia of Rare Disease Annotation for Precision Medicine

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	rhabdomyosarcoma

Disease ID	481
Disease	rhabdomyosarcoma
Definition	A malignant solid tumor arising from mesenchymal tissues which normally differentiate to form striated muscle. It can occur in a wide variety of sites. It is divided into four distinct types: pleomorphic, predominantly in male adults; alveolar (RHABDOMYOSARCOMA, ALVEOLAR), mainly in adolescents and young adults; embryonal (RHABDOMYOSARCOMA, EMBRYONAL), predominantly in infants and children; and botryoidal, also in young children. It is one of the most frequently occurring soft tissue sarcomas and the most common in children under 15. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p2186; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1647-9)
Synonym	[m]rhabdomyosarcoma nos [m]rhabdomyosarcoma nos (morphologic abnormality) rhabdomyoblastoma rhabdomyosarcoma (disorder) rhabdomyosarcoma [disease/finding] rhabdomyosarcoma, malignant rhabdomyosarcoma, no subtype rhabdomyosarcoma, no subtype (morphologic abnormality) rhabdomyosarcoma, nos rhabdomyosarcomas rhabdosarcoma
Orphanet	ORPHANET:780
DOID	DOID:3247
UMLS	C0035412
MeSH	D012208
SNOMED-CT	SNOMEDCT_US_2016_09_01:302847003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:45) C1261473 \| sarcoma \| 5 C1261473 \| sarcomas \| 5 C0039538 \| teratoma \| 3 C1261473 \| soft tissue sarcoma \| 2 C0553580 \| ewing's sarcoma \| 2 C0153687 \| skin metastasis \| 2 C0346976 \| pancreatic metastasis \| 2 C0085669 \| acute leukemia \| 1 C1368910 \| mature teratoma \| 1 C0007129 \| merkel cell carcinoma \| 1 C0025149 \| medulloblastoma \| 1 C0025268 \| multiple endocrine neoplasia type 2a \| 1 C1333990 \| hereditary nonpolyposis colorectal cancer \| 1 C0011649 \| dermoid \| 1 C0220650 \| brain metastases \| 1 C0006142 \| breast cancer \| 1 C0025268 \| multiple endocrine neoplasia type 2 \| 1 C0007140 \| carcinosarcoma \| 1 C0005684 \| bladder cancer \| 1 C0206655 \| alveolar rhabdomyosarcoma \| 1 C0025149 \| medulloblastomas \| 1 C0035335 \| retinoblastoma \| 1 C0007138 \| urothelial carcinoma \| 1 C0027819 \| neuroblastoma \| 1 C0085113 \| neurofibromatosis \| 1 C0025202 \| melanoma \| 1 C0376545 \| hematological malignancy \| 1 C0280630 \| uterine carcinosarcoma \| 1 C0026896 \| myasthenia gravis \| 1 C0011649 \| dermoid cyst \| 1 C0007642 \| cellulitis \| 1 C1261473 \| soft tissue sarcomas \| 1 C1334699 \| mesenchymal tumor \| 1 C0008497 \| choriocarcinoma \| 1 C0027708 \| nephroma \| 1 C0007113 \| rectal cancer \| 1 C0007140 \| carcinosarcomas \| 1 C0007137 \| squamous cell carcinoma \| 1 C0023418 \| leukemia \| 1 C0009402 \| colorectal cancer \| 1 C1720771 \| scrotal hydrocele \| 1 C0026764 \| multiple myeloma \| 1 C0042769 \| virus infection \| 1 C0020305 \| fetal hydrops \| 1 C0027662 \| multiple endocrine neoplasia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 5727 \| PTCH1 \| CTD_human 7422 \| VEGFA \| CTD_human 3481 \| IGF2 \| CTD_human 1268 \| CNR1 \| CTD_human 5077 \| PAX3 \| UNIPROT 5395 \| PMS2 \| CTD_human 2308 \| FOXO1 \| UNIPROT 26519 \| TIMM10 \| CTD_human 5081 \| PAX7 \| UNIPROT 5757 \| PTMA \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 7157 \| TP53 \| CIPHER 1268 \| CNR1 \| CTD_human 5395 \| PMS2 \| CTD_human 3481 \| IGF2 \| CTD_human 26519 \| TIMM10 \| CTD_human 5727 \| PTCH1 \| CTD_human 5757 \| PTMA \| CTD_human 7422 \| VEGFA \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:210) 80755 \| AARSD1 \| 2.38 \| DISEASES 60 \| ACTB \| 1.408 \| DISEASES 86 \| ACTL6A \| 2.449 \| DISEASES 174 \| AFP \| 2.599 \| DISEASES 238 \| ALK \| 2.822 \| DISEASES 84964 \| ALKBH6 \| 2.91 \| DISEASES 196527 \| ANO6 \| 1.079 \| DISEASES 9938 \| ARHGAP25 \| 2.042 \| DISEASES 115557 \| ARHGEF25 \| 3.277 \| DISEASES 10973 \| ASCC3 \| 2.156 \| DISEASES 430 \| ASCL2 \| 1.634 \| DISEASES 567 \| B2M \| 1.399 \| DISEASES 9531 \| BAG3 \| 1.006 \| DISEASES 8537 \| BCAS1 \| 1.134 \| DISEASES 10018 \| BCL2L11 \| 1.304 \| DISEASES 54880 \| BCOR \| 2.465 \| DISEASES 79656 \| BEND5 \| 1.935 \| DISEASES 353500 \| BMP8A \| 1.852 \| DISEASES 800 \| CALD1 \| 3.154 \| DISEASES 841 \| CASP8 \| 1.866 \| DISEASES 842 \| CASP9 \| 1.89 \| DISEASES 857 \| CAV1 \| 1.32 \| DISEASES 859 \| CAV3 \| 1.993 \| DISEASES 11335 \| CBX3 \| 1.061 \| DISEASES 4267 \| CD99 \| 3.886 \| DISEASES 1028 \| CDKN1C \| 2.806 \| DISEASES 1029 \| CDKN2A \| 1.932 \| DISEASES 1146 \| CHRNG \| 1.15 \| DISEASES 548596 \| CKMT1A \| 1.992 \| DISEASES 1268 \| CNR1 \| 1.289 \| DISEASES 64764 \| CREB3L2 \| 3.678 \| DISEASES 1499 \| CTNNB1 \| 1.612 \| DISEASES 6387 \| CXCL12 \| 1.533 \| DISEASES 7852 \| CXCR4 \| 2.031 \| DISEASES 3491 \| CYR61 \| 1.142 \| DISEASES 56616 \| DIABLO \| 1.465 \| DISEASES 23405 \| DICER1 \| 3.523 \| DISEASES 1756 \| DMD \| 1.07 \| DISEASES 55466 \| DNAJA4 \| 1.737 \| DISEASES 26052 \| DNM3 \| 1.023 \| DISEASES 100288687 \| DUX4 \| 2.879 \| DISEASES 653545 \| DUX4L5 \| 2.879 \| DISEASES 144455 \| E2F7 \| 1.083 \| DISEASES 1977 \| EIF4E \| 1.008 \| DISEASES 1978 \| EIF4EBP1 \| 2.322 \| DISEASES 161436 \| EML5 \| 2.215 \| DISEASES 2021 \| ENDOG \| 1.727 \| DISEASES 2027 \| ENO3 \| 2.03 \| DISEASES 10495 \| ENOX2 \| 1.515 \| DISEASES 1969 \| EPHA2 \| 1.23 \| DISEASES 2042 \| EPHA3 \| 1.118 \| DISEASES 2050 \| EPHB4 \| 1.578 \| DISEASES 3266 \| ERAS \| 1.095 \| DISEASES 2098 \| ESD \| 2.076 \| DISEASES 2107 \| ETF1 \| 1.47 \| DISEASES 2115 \| ETV1 \| 1.572 \| DISEASES 2118 \| ETV4 \| 1.378 \| DISEASES 2120 \| ETV6 \| 1.697 \| DISEASES 2130 \| EWSR1 \| 4.777 \| DISEASES 7430 \| EZR \| 1.896 \| DISEASES 54540 \| FAM193B \| 2.998 \| DISEASES 10447 \| FAM3C \| 1.031 \| DISEASES 2260 \| FGFR1 \| 1.072 \| DISEASES 2261 \| FGFR3 \| 1.09 \| DISEASES 2274 \| FHL2 \| 2.004 \| DISEASES 2314 \| FLII \| 2.099 \| DISEASES 27023 \| FOXB1 \| 1.768 \| DISEASES 2297 \| FOXD1 \| 1.163 \| DISEASES 2306 \| FOXD2 \| 1.835 \| DISEASES 2298 \| FOXD4 \| 1.797 \| DISEASES 286380 \| FOXD4L3 \| 2.248 \| DISEASES 22887 \| FOXJ3 \| 1.912 \| DISEASES 3607 \| FOXK2 \| 1.132 \| DISEASES 2300 \| FOXL1 \| 1.817 \| DISEASES 668 \| FOXL2 \| 1.124 \| DISEASES 3344 \| FOXN2 \| 1.573 \| DISEASES 2308 \| FOXO1 \| 6.914 \| DISEASES 2309 \| FOXO3 \| 1.52 \| DISEASES 4303 \| FOXO4 \| 1.694 \| DISEASES 100132074 \| FOXO6 \| 1.019 \| DISEASES 139628 \| FOXR2 \| 1.328 \| DISEASES 1647 \| GADD45A \| 1.402 \| DISEASES 645073 \| GAGE12G \| 1.219 \| DISEASES 729447 \| GAGE2A \| 2.236 \| DISEASES 645037 \| GAGE2B \| 2.236 \| DISEASES 2574 \| GAGE2C \| 2.236 \| DISEASES 729408 \| GAGE2D \| 2.759 \| DISEASES 26749 \| GAGE2E \| 2.759 \| DISEASES 2736 \| GLI2 \| 2.854 \| DISEASES 2737 \| GLI3 \| 1.86 \| DISEASES 2262 \| GPC5 \| 2.164 \| DISEASES 2875 \| GPT \| 1.346 \| DISEASES 2932 \| GSK3B \| 1.149 \| DISEASES 283120 \| H19 \| 1.233 \| DISEASES 3039 \| HBA1 \| 1.811 \| DISEASES 390992 \| HES3 \| 1.009 \| DISEASES 57801 \| HES4 \| 1.491 \| DISEASES 388585 \| HES5 \| 1.359 \| DISEASES 84667 \| HES7 \| 1.159 \| DISEASES 23462 \| HEY1 \| 2.203 \| DISEASES 84439 \| HHIPL1 \| 2.11 \| DISEASES 79802 \| HHIPL2 \| 2.395 \| DISEASES 3091 \| HIF1A \| 1.053 \| DISEASES 3092 \| HIP1 \| 1.692 \| DISEASES 8091 \| HMGA2 \| 2.228 \| DISEASES 3320 \| HSP90AA1 \| 2.052 \| DISEASES 3481 \| IGF2 \| 4.369 \| DISEASES 3645 \| INSRR \| 1.176 \| DISEASES 3725 \| JUN \| 1.864 \| DISEASES 3768 \| KCNJ12 \| 1.022 \| DISEASES 10984 \| KCNQ1OT1 \| 1.14 \| DISEASES 23028 \| KDM1A \| 1.272 \| DISEASES 53353 \| LRP1B \| 1.531 \| DISEASES 4100 \| MAGEA1 \| 1.533 \| DISEASES 4102 \| MAGEA3 \| 1.398 \| DISEASES 4105 \| MAGEA6 \| 1.098 \| DISEASES 55534 \| MAML3 \| 2.354 \| DISEASES 5609 \| MAP2K7 \| 2.182 \| DISEASES 5599 \| MAPK8 \| 1.318 \| DISEASES 4151 \| MB \| 5.757 \| DISEASES 4170 \| MCL1 \| 2.08 \| DISEASES 4192 \| MDK \| 1.048 \| DISEASES 4193 \| MDM2 \| 4.096 \| DISEASES 4205 \| MEF2A \| 2.005 \| DISEASES 4208 \| MEF2C \| 1.797 \| DISEASES 55384 \| MEG3 \| 1.02 \| DISEASES 407975 \| MIR17HG \| 1.385 \| DISEASES 2315 \| MLANA \| 1.814 \| DISEASES 4311 \| MME \| 2.002 \| DISEASES 4338 \| MOCS2 \| 1.002 \| DISEASES 9242 \| MSC \| 2.386 \| DISEASES 2475 \| MTOR \| 1.938 \| DISEASES 347273 \| MURC \| 1.576 \| DISEASES 4609 \| MYC \| 2.888 \| DISEASES 4624 \| MYH6 \| 1.23 \| DISEASES 4635 \| MYL4 \| 1.504 \| DISEASES 4637 \| MYL6 \| 1.035 \| DISEASES 8736 \| MYOM1 \| 1.545 \| DISEASES 4666 \| NACA \| 1.755 \| DISEASES 4676 \| NAP1L4 \| 1.596 \| DISEASES 8648 \| NCOA1 \| 2.1 \| DISEASES 10499 \| NCOA2 \| 2.795 \| DISEASES 4703 \| NEB \| 1.235 \| DISEASES 4745 \| NELL1 \| 1.76 \| DISEASES 10763 \| NES \| 1.908 \| DISEASES 4763 \| NF1 \| 3.143 \| DISEASES 190 \| NR0B1 \| 1.435 \| DISEASES 4893 \| NRAS \| 1.975 \| DISEASES 4916 \| NTRK3 \| 1.729 \| DISEASES 9127 \| P2RX6 \| 1.83 \| DISEASES 142 \| PARP1 \| 1.16 \| DISEASES 5077 \| PAX3 \| 7.357 \| DISEASES 5079 \| PAX5 \| 1.13 \| DISEASES 5081 \| PAX7 \| 6.746 \| DISEASES 56144 \| PCDHA4 \| 2.647 \| DISEASES 5111 \| PCNA \| 1.449 \| DISEASES 5155 \| PDGFB \| 1.506 \| DISEASES 56034 \| PDGFC \| 1.109 \| DISEASES 10471 \| PFDN6 \| 1.478 \| DISEASES 5366 \| PMAIP1 \| 2.032 \| DISEASES 8842 \| PROM1 \| 1.368 \| DISEASES 5727 \| PTCH1 \| 4.047 \| DISEASES 5781 \| PTPN11 \| 1.4 \| DISEASES 5788 \| PTPRC \| 2.87 \| DISEASES 5869 \| RAB5B \| 1.251 \| DISEASES 6007 \| RHD \| 6.297 \| DISEASES 196475 \| RMST \| 2.998 \| DISEASES 22908 \| SACM1L \| 1.195 \| DISEASES 12 \| SERPINA3 \| 1.245 \| DISEASES 23446 \| SLC44A1 \| 1.163 \| DISEASES 4089 \| SMAD4 \| 1.228 \| DISEASES 6597 \| SMARCA4 \| 1.635 \| DISEASES 6603 \| SMARCD2 \| 1.874 \| DISEASES 23583 \| SMUG1 \| 2.802 \| DISEASES 150572 \| SMYD1 \| 1.714 \| DISEASES 6654 \| SOS1 \| 1.619 \| DISEASES 6663 \| SOX10 \| 2.171 \| DISEASES 6657 \| SOX2 \| 1.219 \| DISEASES 6714 \| SRC \| 1.171 \| DISEASES 26576 \| SRPK3 \| 2.023 \| DISEASES 6760 \| SS18 \| 2.973 \| DISEASES 6756 \| SSX1 \| 2.628 \| DISEASES 727837 \| SSX2B \| 2.388 \| DISEASES 51684 \| SUFU \| 2.031 \| DISEASES 6832 \| SUPV3L1 \| 1.193 \| DISEASES 6839 \| SUV39H1 \| 1.801 \| DISEASES 6867 \| TACC1 \| 1.909 \| DISEASES 55775 \| TDP1 \| 1.527 \| DISEASES 7003 \| TEAD1 \| 2.352 \| DISEASES 7021 \| TFAP2B \| 1.409 \| DISEASES 7054 \| TH \| 1.132 \| DISEASES 7075 \| TIE1 \| 1.079 \| DISEASES 7150 \| TOP1 \| 2.676 \| DISEASES 7260 \| TSSC1 \| 2.266 \| DISEASES 7270 \| TTF1 \| 1.875 \| DISEASES 7273 \| TTN \| 1.542 \| DISEASES 54579 \| UGT1A5 \| 1.38 \| DISEASES 80328 \| ULBP2 \| 1.419 \| DISEASES 25989 \| ULK3 \| 1.696 \| DISEASES 7422 \| VEGFA \| 1.955 \| DISEASES 245806 \| VGLL2 \| 3.608 \| DISEASES 79971 \| WLS \| 1.338 \| DISEASES 7490 \| WT1 \| 4.468 \| DISEASES 25937 \| WWTR1 \| 1.256 \| DISEASES 9502 \| XAGE2 \| 1.842 \| DISEASES 331 \| XIAP \| 1.245 \| DISEASES 65986 \| ZBTB10 \| 1.18 \| DISEASES 403341 \| ZBTB34 \| 2.759 \| DISEASES 171392 \| ZNF675 \| 1.359 \| DISEASES 201516 \| ZSCAN4 \| 1.828 \| DISEASES
Locus	(Waiting for update.)

Disease ID	481
Disease	rhabdomyosarcoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:32) HP:0002664 \| Neoplasia \| 13 HP:0100242 \| Sarcoma \| 5 HP:0009792 \| Teratoma \| 4 HP:0030448 \| Soft tissue sarcoma \| 3 HP:0012254 \| Ewing's sarcoma \| 2 HP:0030731 \| Carcinoma \| 2 HP:0002835 \| Aspiration \| 1 HP:0100616 \| Testicular teratoma \| 1 HP:0006779 \| Alveolar rhabdomyosarcoma \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0100650 \| Vaginal neoplasm \| 1 HP:0010475 \| Cloacal exstrophy \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0002861 \| Melanoma \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0009919 \| Retinoblastoma \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0000160 \| Small mouth \| 1 HP:0100658 \| Bacterial infection of skin \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0100768 \| Choriocarcinoma \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0010788 \| Testicular neoplasm \| 1 HP:0009733 \| Glioma \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0009725 \| Bladder neoplasm \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0002488 \| Acute leukemias \| 1 HP:0030741 \| Teratoma of the mediastinum \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0010784 \| Uterine tumor \| 1 HP:0001909 \| Leukemia \| 1

Disease ID	481
Disease	rhabdomyosarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:20) C2681938 \| beckwith-wiedemann syndrome C2364133 \| infection C1963274 \| vasculitis C1264606 \| persistent infection C1261473 \| soft tissue sarcomas C0581384 \| chronic anemia C0334517 \| spermatocytic seminoma C0279665 \| ovarian mucinous cystadenocarcinoma C0220650 \| brain metastasis C0220650 \| brain metastases C0153690 \| bone metastasis C0153690 \| bone metastases C0153676 \| pulmonary metastasis C0029089 \| ophthalmoplegia C0023903 \| hepatoma C0020437 \| hypercalcemia C0018133 \| graft-versus-host disease C0013533 \| echovirus infection C0012739 \| disseminated intravascular coagulation C0008626 \| chromosomal abnormality
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C1261473 \| soft tissue sarcomas \| 1 C0153690 \| bone metastases \| 1 C0220650 \| brain metastases \| 1

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

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

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913529	23821038	3845	KRAS	umls:C0035412	BeFree	By contrast, mylz2:KRAS(G12D) tumors more closely resembled mature skeletal muscle and were most similar to well-differentiated human rhabdomyosarcoma in terms of gene expression.	0.000814326	2013	KRAS	12	25245350	C	T,G,A
rs121913529	23705022	3845	KRAS	umls:C0035412	BeFree	We performed an overexpression screen of chromatin-modifying factors in a KRAS(G12D)-driven zebrafish model for RMS.	0.000814326	2013	KRAS	12	25245350	C	T,G,A
rs121913529	20805368	3845	KRAS	umls:C0035412	BeFree	Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma.	0.000814326	2010	KRAS	12	25245350	C	T,G,A
rs28934576	21484931	7157	TP53	umls:C0035412	BeFree	Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.	0.011867498	2011	TP53	17	7673802	C	T,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.)

Disease ID	481
Disease	rhabdomyosarcoma
Case	(Waiting for update.)

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