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Pediatric Disease Annotations & Medicines



   leiomyosarcoma
  

Disease ID 136
Disease leiomyosarcoma
Definition
A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)
Synonym
[m]leiomyosarcoma nos
[m]leiomyosarcoma nos (morphologic abnormality)
leiomyomosarcoma, no subtype (morphologic abnormality)
leiomyosarcoma (disorder)
leiomyosarcoma (excluding uterine leiomyosarcoma)
leiomyosarcoma - not uterine
leiomyosarcoma [disease/finding]
leiomyosarcoma, malignant
leiomyosarcoma, no subtype
leiomyosarcoma, no subtype (morphologic abnormality)
leiomyosarcoma, nos
leiomyosarcomas
lms - leiomyosarcoma
Orphanet
DOID
UMLS
C0023269
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:39)
C0494165  |  liver metastasis  |  4
C1261473  |  sarcomas  |  3
C1261473  |  sarcoma  |  3
C0153676  |  pulmonary metastases  |  2
C0007137  |  squamous cell carcinoma  |  2
C1334699  |  mesenchymal tumor  |  2
C0206630  |  endometrial stromal sarcoma  |  1
C0035335  |  retinoblastoma  |  1
C0007847  |  cervical cancer  |  1
C0032285  |  pneumonitis  |  1
C0025464  |  mesenchymoma  |  1
C0018801  |  heart failure  |  1
C0334492  |  malignant mesenchymoma  |  1
C0494165  |  hepatic metastasis  |  1
C0042133  |  uterine fibroids  |  1
C0595989  |  carcinoma of the larynx  |  1
C0019829  |  hodgkin's lymphoma  |  1
C0005684  |  bladder cancer  |  1
C0016057  |  fibrosarcomas  |  1
C0206658  |  smooth muscle tumour  |  1
C0948303  |  peritoneal carcinoma  |  1
C0007140  |  carcinosarcoma  |  1
C0206694  |  mucoepidermoid carcinoma  |  1
C0009324  |  ulcerative colitis  |  1
C0280324  |  squamous cell carcinoma of the larynx  |  1
C0023267  |  fibroid  |  1
C0238198  |  gastrointestinal stromal tumor  |  1
C0024299  |  lymphoma  |  1
C0686619  |  lymph node metastases  |  1
C0235974  |  pancreatic carcinoma  |  1
C0007137  |  epidermoid carcinoma  |  1
C0042133  |  uterine fibroid  |  1
C0740457  |  renal cancer  |  1
C0007107  |  laryngeal cancer  |  1
C0302592  |  cervical ca  |  1
C0879615  |  stromal tumor  |  1
C0153687  |  skin metastasis  |  1
C0030305  |  pancreatitis  |  1
C0024305  |  non-hodgkin's lymphoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
PTGS2  |  5743  |  CTD_human
DMD  |  1756  |  CTD_human
CSF3  |  1440  |  CTD_human
HMGA1  |  3159  |  CTD_human
USP18  |  11274  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:268)
401237  |  CASC15  |  DISEASES
4830  |  NME1  |  DISEASES
4804  |  NGFR  |  DISEASES
1361  |  CPB2  |  DISEASES
6820  |  SULT2B1  |  DISEASES
2099  |  ESR1  |  DISEASES
8216  |  LZTR1  |  DISEASES
11274  |  USP18  |  DISEASES
10454  |  TAB1  |  DISEASES
1113  |  CHGA  |  DISEASES
6790  |  AURKA  |  DISEASES
6725  |  SRMS  |  DISEASES
7249  |  TSC2  |  DISEASES
1428  |  CRYM  |  DISEASES
3163  |  HMOX2  |  DISEASES
1048  |  CEACAM5  |  DISEASES
1440  |  CSF3  |  DISEASES
8402  |  SLC25A11  |  DISEASES
708  |  C1QBP  |  DISEASES
1949  |  EFNB3  |  DISEASES
595  |  CCND1  |  DISEASES
4254  |  KITLG  |  DISEASES
4618  |  MYF6  |  DISEASES
2026  |  ENO2  |  DISEASES
2822  |  GPLD1  |  DISEASES
1611  |  DAP  |  DISEASES
4436  |  MSH2  |  DISEASES
4656  |  MYOG  |  DISEASES
11017  |  SNRNP27  |  DISEASES
55831  |  EMC3  |  DISEASES
8139  |  GAN  |  DISEASES
4654  |  MYOD1  |  DISEASES
968  |  CD68  |  DISEASES
3852  |  KRT5  |  DISEASES
56301  |  SLC7A10  |  DISEASES
9113  |  LATS1  |  DISEASES
2670  |  GFAP  |  DISEASES
2521  |  FUS  |  DISEASES
3845  |  KRAS  |  DISEASES
5156  |  PDGFRA  |  DISEASES
55226  |  NAT10  |  DISEASES
1019  |  CDK4  |  DISEASES
7057  |  THBS1  |  DISEASES
4069  |  LYZ  |  DISEASES
1112  |  FOXN3  |  DISEASES
845  |  CASQ2  |  DISEASES
27190  |  IL17B  |  DISEASES
5159  |  PDGFRB  |  DISEASES
114294  |  LACTB  |  DISEASES
466  |  ATF1  |  DISEASES
9972  |  NUP153  |  DISEASES
57509  |  MTUS1  |  DISEASES
23361  |  ZNF629  |  DISEASES
55816  |  DOK5  |  DISEASES
8503  |  PIK3R3  |  DISEASES
10552  |  ARPC1A  |  DISEASES
6598  |  SMARCB1  |  DISEASES
6855  |  SYP  |  DISEASES
23264  |  ZC3H7B  |  DISEASES
55850  |  USE1  |  DISEASES
3791  |  KDR  |  DISEASES
4162  |  MCAM  |  DISEASES
7531  |  YWHAE  |  DISEASES
2247  |  FGF2  |  DISEASES
9759  |  HDAC4  |  DISEASES
8626  |  TP63  |  DISEASES
57110  |  HRASLS  |  DISEASES
6722  |  SRF  |  DISEASES
29999  |  FSCN3  |  DISEASES
1616  |  DAXX  |  DISEASES
11070  |  TMEM115  |  DISEASES
1017  |  CDK2  |  DISEASES
663  |  BNIP2  |  DISEASES
3480  |  IGF1R  |  DISEASES
7157  |  TP53  |  DISEASES
2064  |  ERBB2  |  DISEASES
57410  |  SCYL1  |  DISEASES
207  |  AKT1  |  DISEASES
55244  |  SLC47A1  |  DISEASES
275  |  AMT  |  DISEASES
1956  |  EGFR  |  DISEASES
54539  |  NDUFB11  |  DISEASES
55909  |  BIN3  |  DISEASES
6876  |  TAGLN  |  DISEASES
5805  |  PTS  |  DISEASES
2321  |  FLT1  |  DISEASES
221895  |  JAZF1  |  DISEASES
7345  |  UCHL1  |  DISEASES
1633  |  DCK  |  DISEASES
3815  |  KIT  |  DISEASES
26060  |  APPL1  |  DISEASES
112950  |  MED8  |  DISEASES
58500  |  ZNF250  |  DISEASES
2256  |  FGF11  |  DISEASES
10630  |  PDPN  |  DISEASES
72  |  ACTG2  |  DISEASES
4286  |  MITF  |  DISEASES
7871  |  SLMAP  |  DISEASES
1073  |  CFL2  |  DISEASES
10214  |  SSX3  |  DISEASES
9317  |  PTER  |  DISEASES
121643  |  FOXN4  |  DISEASES
148156  |  ZNF558  |  DISEASES
7083  |  TK1  |  DISEASES
9427  |  ECEL1  |  DISEASES
3479  |  IGF1  |  DISEASES
26287  |  ANKRD2  |  DISEASES
23261  |  CAMTA1  |  DISEASES
3622  |  ING2  |  DISEASES
794  |  CALB2  |  DISEASES
27087  |  B3GAT1  |  DISEASES
10855  |  HPSE  |  DISEASES
57124  |  CD248  |  DISEASES
3159  |  HMGA1  |  DISEASES
7015  |  TERT  |  DISEASES
3265  |  HRAS  |  DISEASES
947  |  CD34  |  DISEASES
836  |  CASP3  |  DISEASES
80227  |  PAAF1  |  DISEASES
5553  |  PRG2  |  DISEASES
64759  |  TNS3  |  DISEASES
6758  |  SSX5  |  DISEASES
80818  |  ZNF436  |  DISEASES
7030  |  TFE3  |  DISEASES
283150  |  FOXR1  |  DISEASES
23512  |  SUZ12  |  DISEASES
115207  |  KCTD12  |  DISEASES
827  |  CAPN6  |  DISEASES
4684  |  NCAM1  |  DISEASES
51715  |  RAB23  |  DISEASES
8289  |  ARID1A  |  DISEASES
222235  |  FBXL13  |  DISEASES
3039  |  HBA1  |  DISEASES
60485  |  SAV1  |  DISEASES
5241  |  PGR  |  DISEASES
5324  |  PLAG1  |  DISEASES
3052  |  HCCS  |  DISEASES
1435  |  CSF1  |  DISEASES
333929  |  SNAI3  |  DISEASES
64764  |  CREB3L2  |  DISEASES
3855  |  KRT7  |  DISEASES
5121  |  PCP4  |  DISEASES
283869  |  NPW  |  DISEASES
3009  |  HIST1H1B  |  DISEASES
23542  |  MAPK8IP2  |  DISEASES
7490  |  WT1  |  DISEASES
6297  |  SALL2  |  DISEASES
887  |  CCKBR  |  DISEASES
139065  |  SLITRK4  |  DISEASES
3092  |  HIP1  |  DISEASES
9138  |  ARHGEF1  |  DISEASES
57820  |  CCNB1IP1  |  DISEASES
6645  |  SNTB2  |  DISEASES
23583  |  SMUG1  |  DISEASES
4076  |  CAPRIN1  |  DISEASES
23193  |  GANAB  |  DISEASES
54345  |  SOX18  |  DISEASES
344901  |  OSTN  |  DISEASES
3344  |  FOXN2  |  DISEASES
1499  |  CTNNB1  |  DISEASES
55107  |  ANO1  |  DISEASES
1785  |  DNM2  |  DISEASES
5265  |  SERPINA1  |  DISEASES
253260  |  RICTOR  |  DISEASES
4763  |  NF1  |  DISEASES
6525  |  SMTN  |  DISEASES
8323  |  FZD6  |  DISEASES
56916  |  SMARCAD1  |  DISEASES
9332  |  CD163  |  DISEASES
126014  |  OSCAR  |  DISEASES
4151  |  MB  |  DISEASES
93034  |  NT5C1B  |  DISEASES
4638  |  MYLK  |  DISEASES
4311  |  MME  |  DISEASES
6663  |  SOX10  |  DISEASES
22871  |  NLGN1  |  DISEASES
2475  |  MTOR  |  DISEASES
800  |  CALD1  |  DISEASES
2271  |  FH  |  DISEASES
339501  |  PRSS38  |  DISEASES
1380  |  CR2  |  DISEASES
25802  |  LMOD1  |  DISEASES
5788  |  PTPRC  |  DISEASES
3645  |  INSRR  |  DISEASES
57326  |  PBXIP1  |  DISEASES
11000  |  SLC27A3  |  DISEASES
3713  |  IVL  |  DISEASES
149428  |  BNIPL  |  DISEASES
4803  |  NGF  |  DISEASES
11124  |  FAF1  |  DISEASES
7410  |  VAV2  |  DISEASES
5728  |  PTEN  |  DISEASES
7422  |  VEGFA  |  DISEASES
9452  |  ITM2A  |  DISEASES
546  |  ATRX  |  DISEASES
58490  |  RPRD1B  |  DISEASES
8565  |  YARS  |  DISEASES
8668  |  EIF3I  |  DISEASES
23633  |  KPNA6  |  DISEASES
54797  |  MED18  |  DISEASES
7321  |  UBE2D1  |  DISEASES
9968  |  MED12  |  DISEASES
4303  |  FOXO4  |  DISEASES
5252  |  PHF1  |  DISEASES
5698  |  PSMB9  |  DISEASES
978  |  CDA  |  DISEASES
727837  |  SSX2B  |  DISEASES
2259  |  FGF14  |  DISEASES
7088  |  TLE1  |  DISEASES
158471  |  PRUNE2  |  DISEASES
6096  |  RORB  |  DISEASES
6756  |  SSX1  |  DISEASES
22803  |  XRN2  |  DISEASES
4609  |  MYC  |  DISEASES
768  |  CA9  |  DISEASES
54880  |  BCOR  |  DISEASES
7102  |  TSPAN7  |  DISEASES
7163  |  TPD52  |  DISEASES
284390  |  ZNF763  |  DISEASES
4267  |  CD99  |  DISEASES
2315  |  MLANA  |  DISEASES
1024  |  CDK8  |  DISEASES
80333  |  KCNIP4  |  DISEASES
6624  |  FSCN1  |  DISEASES
5720  |  PSME1  |  DISEASES
6468  |  FBXW4  |  DISEASES
238  |  ALK  |  DISEASES
10123  |  ARL4C  |  DISEASES
12  |  SERPINA3  |  DISEASES
4831  |  NME2  |  DISEASES
65009  |  NDRG4  |  DISEASES
87  |  ACTN1  |  DISEASES
4239  |  MFAP4  |  DISEASES
7920  |  ABHD16A  |  DISEASES
115560  |  ZNF501  |  DISEASES
89797  |  NAV2  |  DISEASES
29911  |  HOOK2  |  DISEASES
10106  |  CTDSP2  |  DISEASES
4148  |  MATN3  |  DISEASES
8091  |  HMGA2  |  DISEASES
2531  |  KDSR  |  DISEASES
85300  |  ATCAY  |  DISEASES
3481  |  IGF2  |  DISEASES
3800  |  KIF5C  |  DISEASES
1029  |  CDKN2A  |  DISEASES
7849  |  PAX8  |  DISEASES
387836  |  CLEC2A  |  DISEASES
7155  |  TOP2B  |  DISEASES
960  |  CD44  |  DISEASES
2352  |  FOLR3  |  DISEASES
2130  |  EWSR1  |  DISEASES
93649  |  MYOCD  |  DISEASES
9734  |  HDAC9  |  DISEASES
196527  |  ANO6  |  DISEASES
7153  |  TOP2A  |  DISEASES
51512  |  GTSE1  |  DISEASES
6513  |  SLC2A1  |  DISEASES
54751  |  FBLIM1  |  DISEASES
4193  |  MDM2  |  DISEASES
139628  |  FOXR2  |  DISEASES
4914  |  NTRK1  |  DISEASES
90993  |  CREB3L1  |  DISEASES
55733  |  HHAT  |  DISEASES
1622  |  DBI  |  DISEASES
3679  |  ITGA7  |  DISEASES
84033  |  OBSCN  |  DISEASES
4927  |  NUP88  |  DISEASES
100507540  |  LINC01504  |  DISEASES
Locus(Waiting for update.)
Disease ID 136
Disease leiomyosarcoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:26)
HP:0002664  |  Neoplasia  |  14
HP:0100242  |  Sarcoma  |  3
HP:0030731  |  Carcinoma  |  2
HP:0002860  |  Squamous cell carcinoma  |  2
HP:0100721  |  Mediastinal lymphadenopathy  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0012118  |  Cancer of the larynx  |  1
HP:0100723  |  Gastrointestinal stroma tumor  |  1
HP:0001289  |  Confusion  |  1
HP:0009733  |  Glioma  |  1
HP:0001733  |  Pancreatic inflammation  |  1
HP:0002015  |  Swallowing difficulty  |  1
HP:0001945  |  Fever  |  1
HP:0002584  |  Intestinal hemorrhage  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0002665  |  Lymphoma  |  1
HP:0100279  |  Ulcerative colitis  |  1
HP:0001824  |  Weight loss  |  1
HP:0002239  |  Gastrointestinal hemorrhage  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0012531  |  Pain  |  1
HP:0200058  |  Angiosarcoma  |  1
HP:0001974  |  Leukocytosis  |  1
HP:0000131  |  Uterine leiomyoma  |  1
HP:0009725  |  Bladder neoplasm  |  1
HP:0009919  |  Retinoblastoma  |  1
Disease ID 136
Disease leiomyosarcoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:21)
C1142158  |  hepatic vein occlusion
C0555278  |  cerebral metastasis
C0494165  |  liver metastasis
C0494165  |  liver metastases
C0494165  |  hepatic metastasis
C0346989  |  peritoneal metastases
C0346976  |  pancreatic metastasis
C0302592  |  carcinoma of the cervix
C0302148  |  thrombus
C0153690  |  bone metastasis
C0153690  |  bone metastases
C0153687  |  cutaneous metastasis
C0153676  |  pulmonary metastasis
C0153676  |  pulmonary metastases
C0149871  |  deep venous thrombosis
C0040053  |  thrombosis
C0030552  |  paresis
C0023885  |  liver abscesses
C0023370  |  leriche syndrome
C0020295  |  hydronephrosis
C0011168  |  dysphagia
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0494165  |  liver metastasis  |  4
C0153676  |  pulmonary metastases  |  2
C0011168  |  dysphagia  |  1
C0494165  |  hepatic metastasis  |  1
Manually Genotype(Total Text Mining 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
rs13181166460692073ERCC5umls:C0023269BeFreeDNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms.0.0002714422006ERCC2;KLC31945351661TA,G
rs13181166460692068ERCC2umls:C0023269BeFreeDNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms.0.0002714422006ERCC2;KLC31945351661TA,G
rs17655166460692073ERCC5umls:C0023269BeFreeDNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms.0.0002714422006ERCC5;BIVM-ERCC513102875652GC
rs17655166460692068ERCC2umls:C0023269BeFreeDNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms.0.0002714422006ERCC5;BIVM-ERCC513102875652GC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0002625Deep venous thrombosisMP:0001855atrial thrombosis;
Mapped by homologous gene(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0000126HydronephrosisMP:0010465aberrant origin of the right subclavian artery;HP:0002015Dysphagia
Chemical(Total Drugs:8)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0023269cyclophosphamideD00352050-18-0leiomyosarcomaMESH:D007890marker/mechanism11487082
C0023269cisplatinD00294515663-27-1leiomyosarcomaMESH:D007890therapeutic15878560
C0023269ifosfamideD0070693778-73-2leiomyosarcomaMESH:D007890therapeutic15878560
C0023269mesnaD01508019767-45-4leiomyosarcomaMESH:D007890therapeutic15878560
C0023269paclitaxelD017239-leiomyosarcomaMESH:D007890therapeutic9774950
C0023269vincristineD014750-leiomyosarcomaMESH:D007890marker/mechanism12748258
C0023269vincristineD014750-leiomyosarcomaMESH:D007890therapeutic1421432
C0023269vindesineD01475153643-48-4leiomyosarcomaMESH:D007890therapeutic7438126
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)