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Pediatric Disease Annotations & Medicines



   chordoma
  

Disease ID 362
Disease chordoma
Definition
A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed)
Synonym
chdm
chordoma (morphologic abnormality)
chordoma [disease/finding]
chordoma, malignant
chordoma, susceptibility to
chordomas
notochordoma
Orphanet
OMIM
DOID
UMLS
C0008487
MeSH
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:9)
C0392548  |  cauda equina syndrome  |  1
C0153676  |  pulmonary metastases  |  1
C0041341  |  tuberous sclerosis complex  |  1
C0027765  |  neurological disease  |  1
C0041341  |  tuberous sclerosis  |  1
C0019829  |  hodgkin's disease  |  1
C0205945  |  spindle cell sarcoma  |  1
C1334699  |  mesenchymal tumor  |  1
C0153676  |  lung metastases  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
T  |  6862  |  CTD_human;ORPHANET;GHR
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:152)
6591  |  SNAI2  |  DISEASES
1015  |  CDH17  |  DISEASES
7145  |  TNS1  |  DISEASES
771  |  CA12  |  DISEASES
8839  |  WISP2  |  DISEASES
1113  |  CHGA  |  DISEASES
4313  |  MMP2  |  DISEASES
7249  |  TSC2  |  DISEASES
5516  |  PPP2CB  |  DISEASES
1048  |  CEACAM5  |  DISEASES
3082  |  HGF  |  DISEASES
7431  |  VIM  |  DISEASES
6198  |  RPS6KB1  |  DISEASES
4848  |  CNOT2  |  DISEASES
2026  |  ENO2  |  DISEASES
84417  |  C2orf40  |  DISEASES
3204  |  HOXA7  |  DISEASES
23682  |  RAB38  |  DISEASES
79441  |  HAUS3  |  DISEASES
6662  |  SOX9  |  DISEASES
968  |  CD68  |  DISEASES
3848  |  KRT1  |  DISEASES
2670  |  GFAP  |  DISEASES
3958  |  LGALS3  |  DISEASES
10752  |  CHL1  |  DISEASES
5156  |  PDGFRA  |  DISEASES
4856  |  NOV  |  DISEASES
3417  |  IDH1  |  DISEASES
999  |  CDH1  |  DISEASES
5159  |  PDGFRB  |  DISEASES
9739  |  SETD1A  |  DISEASES
9368  |  SLC9A3R1  |  DISEASES
23239  |  PHLPP1  |  DISEASES
6598  |  SMARCB1  |  DISEASES
6855  |  SYP  |  DISEASES
51430  |  SUCO  |  DISEASES
89884  |  LHX4  |  DISEASES
8673  |  VAMP8  |  DISEASES
3791  |  KDR  |  DISEASES
5290  |  PIK3CA  |  DISEASES
9759  |  HDAC4  |  DISEASES
6774  |  STAT3  |  DISEASES
29999  |  FSCN3  |  DISEASES
3480  |  IGF1R  |  DISEASES
4240  |  MFGE8  |  DISEASES
1000  |  CDH2  |  DISEASES
7157  |  TP53  |  DISEASES
207  |  AKT1  |  DISEASES
9869  |  SETDB1  |  DISEASES
1513  |  CTSK  |  DISEASES
1956  |  EGFR  |  DISEASES
1030  |  CDKN2B  |  DISEASES
4851  |  NOTCH1  |  DISEASES
3206  |  HOXA10  |  DISEASES
1436  |  CSF1R  |  DISEASES
3815  |  KIT  |  DISEASES
9669  |  EIF5B  |  DISEASES
6271  |  S100A1  |  DISEASES
3856  |  KRT8  |  DISEASES
3889  |  KRT83  |  DISEASES
10630  |  PDPN  |  DISEASES
4009  |  LMX1A  |  DISEASES
55314  |  TMEM144  |  DISEASES
6228  |  RPS23  |  DISEASES
64321  |  SOX17  |  DISEASES
10818  |  FRS2  |  DISEASES
10653  |  SPINT2  |  DISEASES
79058  |  ASPSCR1  |  DISEASES
3643  |  INSR  |  DISEASES
197259  |  MLKL  |  DISEASES
9940  |  DLEC1  |  DISEASES
572  |  BAD  |  DISEASES
3265  |  HRAS  |  DISEASES
947  |  CD34  |  DISEASES
1163  |  CKS1B  |  DISEASES
1464  |  CSPG4  |  DISEASES
4327  |  MMP19  |  DISEASES
3090  |  HIC1  |  DISEASES
7030  |  TFE3  |  DISEASES
4233  |  MET  |  DISEASES
7358  |  UGDH  |  DISEASES
4312  |  MMP1  |  DISEASES
6657  |  SOX2  |  DISEASES
55553  |  SOX6  |  DISEASES
5241  |  PGR  |  DISEASES
64764  |  CREB3L2  |  DISEASES
3855  |  KRT7  |  DISEASES
5155  |  PDGFB  |  DISEASES
9146  |  HGS  |  DISEASES
23762  |  OSBP2  |  DISEASES
9112  |  MTA1  |  DISEASES
23583  |  SMUG1  |  DISEASES
1978  |  EIF4EBP1  |  DISEASES
10383  |  TUBB4B  |  DISEASES
2066  |  ERBB4  |  DISEASES
10166  |  SLC25A15  |  DISEASES
1499  |  CTNNB1  |  DISEASES
5154  |  PDGFA  |  DISEASES
8764  |  TNFRSF14  |  DISEASES
2050  |  EPHB4  |  DISEASES
8356  |  HIST1H3J  |  DISEASES
8353  |  HIST1H3E  |  DISEASES
2475  |  MTOR  |  DISEASES
3880  |  KRT19  |  DISEASES
23328  |  SASH1  |  DISEASES
389432  |  SAMD5  |  DISEASES
2117  |  ETV3  |  DISEASES
2258  |  FGF13  |  DISEASES
51013  |  EXOSC1  |  DISEASES
4070  |  TACSTD2  |  DISEASES
9334  |  B4GALT5  |  DISEASES
5728  |  PTEN  |  DISEASES
7422  |  VEGFA  |  DISEASES
4318  |  MMP9  |  DISEASES
9935  |  MAFB  |  DISEASES
171023  |  ASXL1  |  DISEASES
11166  |  SOX21  |  DISEASES
7347  |  UCHL3  |  DISEASES
8434  |  RECK  |  DISEASES
54880  |  BCOR  |  DISEASES
1855  |  DVL1  |  DISEASES
4507  |  MTAP  |  DISEASES
7280  |  TUBB2A  |  DISEASES
8544  |  PIR  |  DISEASES
2315  |  MLANA  |  DISEASES
29126  |  CD274  |  DISEASES
192668  |  CYS1  |  DISEASES
390874  |  ONECUT3  |  DISEASES
6736  |  SRY  |  DISEASES
3875  |  KRT18  |  DISEASES
7306  |  TYRP1  |  DISEASES
12  |  SERPINA3  |  DISEASES
55193  |  PBRM1  |  DISEASES
7227  |  TRPS1  |  DISEASES
100134934  |  TEN1  |  DISEASES
80380  |  PDCD1LG2  |  DISEASES
176  |  ACAN  |  DISEASES
1029  |  CDKN2A  |  DISEASES
6660  |  SOX5  |  DISEASES
2130  |  EWSR1  |  DISEASES
4193  |  MDM2  |  DISEASES
3712  |  IVD  |  DISEASES
1977  |  EIF4E  |  DISEASES
4914  |  NTRK1  |  DISEASES
84107  |  ZIC4  |  DISEASES
6207  |  RPS13  |  DISEASES
8352  |  HIST1H3C  |  DISEASES
3250  |  HPR  |  DISEASES
4090  |  SMAD5  |  DISEASES
10381  |  TUBB3  |  DISEASES
100630918  |  PARTICL  |  DISEASES
7503  |  XIST  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
T  |  6q27
Disease ID 362
Disease chordoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:7)
HP:0002664  |  Neoplasia  |  12
HP:0002617  |  Aneurysmal dilatation  |  1
HP:0011029  |  Internal bleeding  |  1
HP:0002797  |  Increased bone resorption  |  1
HP:0012318  |  Occipital neuralgia  |  1
HP:0002385  |  Paraparesis  |  1
HP:0030746  |  Intraventricular hemorrhage  |  1
Disease ID 362
Disease chordoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:10)
C2598155  |  pain
C1608408  |  malignant transformation
C0751078  |  intermittent diplopia
C0334463  |  malignant fibrous histiocytoma
C0262576  |  nerve palsy
C0158242  |  cervical spinal cord compression
C0153687  |  cutaneous metastasis
C0153676  |  lung metastasis
C0038525  |  subarachnoid hemorrhage
C0007682  |  cns disease
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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:2)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0008487bortezomibD000069286-chordomaMESH:D002817therapeutic24223206
C0008487vincristineD014750-chordomaMESH:D002817therapeutic4528471
FDA approved drug and dosage information(Total Drugs:1)
DiseaseID Drug_name active_ingredients strength Dosage Form/Route Marketing Status TE code RLD RS
MESH:D002817velcadebortezomib3.5MG/VIALINJECTABLE;INTRAVENOUS, SUBCUTANEOUSPrescriptionNoneYesYes
FDA labeling changes(Total Drugs:1)
DiseaseID Pediatric_Labeling_Date Trade_Name Generic_Name_or_Proper_Name Indications Studied Label Changes Summary Product Labeling BPCA(B) PREA(P) BPCA(B) and PREA(P) Pediatric Rule (R) Sponsor Pediatric Exclusivity Granted Date NNPS
MESH:D00281709/14/2015velcadebortezomibRelapsed Acute Lymphoblastic Leukemia (ALL) and Lymphoblastic Lymphoma (LL)Effectiveness in pediatric patients with relapsed pre-B ALL has not been established. The activity and safety of Velcade in combination with intensive reinduction chemotherapy was evaluated in pediatric and young adult patients with lymphoid malignancies. There were 140 patients with ALL or LL enrolled and evaluated for safety. No new safety concerns were observedLabelingB---Millennium Pharmaceuticals, Inc.-FALSE