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Pediatric Disease Annotations & Medicines



   neuroendocrine tumor
  

Disease ID 1050
Disease neuroendocrine tumor
Definition
Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.
Synonym
neoplasms neuroendocrine
neuroendocrine neoplasia
neuroendocrine neoplasm
neuroendocrine neoplasm (morphologic abnormality)
neuroendocrine tumor (disorder)
neuroendocrine tumor nos
neuroendocrine tumors
neuroendocrine tumors [disease/finding]
neuroendocrine tumour
neuroendocrine tumours
tumor, neuroendocrine
tumors, neuroendocrine
DOID
UMLS
C0206754
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:73)
C0494165  |  liver metastases  |  34
C0024586  |  carcinoid syndrome  |  7
C0494165  |  hepatic metastases  |  7
C0027662  |  multiple endocrine neoplasia  |  6
C0494165  |  liver metastasis  |  5
C0025267  |  multiple endocrine neoplasia type 1  |  5
C0686619  |  lymph node metastases  |  3
C0011991  |  diarrhea  |  3
C0019562  |  lindau disease  |  3
C0001418  |  adenocarcinoma  |  3
C0020437  |  hypercalcemia  |  3
C0206754  |  neuroendocrine neoplasm  |  2
C0001206  |  acromegaly  |  2
C0019562  |  von hippel-lindau syndrome  |  2
C0017150  |  gastrinoma  |  2
C0017150  |  gastrinomas  |  2
C0085113  |  neurofibromatosis  |  2
C0019562  |  hippel-lindau disease  |  2
C0011649  |  mature cystic teratoma  |  2
C0021390  |  inflammatory bowel disease  |  2
C0017154  |  chronic atrophic gastritis  |  2
C1368903  |  cystic teratoma  |  2
C0031511  |  pheochromocytoma  |  2
C0021831  |  bowel disease  |  2
C0024299  |  lymphoma  |  2
C0019562  |  von hippel-lindau disease  |  2
C0030305  |  pancreatitis  |  2
C0149925  |  small cell carcinoma  |  2
C0039538  |  teratoma  |  2
C0020541  |  portal hypertension  |  1
C0030920  |  peptic ulcer  |  1
C0018799  |  heart disease  |  1
C1333990  |  lynch syndrome  |  1
C0007131  |  nsclc  |  1
C0278701  |  gastric adenocarcinoma  |  1
C0494165  |  hepatic metastasis  |  1
C0019562  |  von hippel lindau disease  |  1
C0025286  |  meningioma  |  1
C0010481  |  cushing's syndrome  |  1
C0153687  |  skin metastasis  |  1
C0030486  |  paraplegia  |  1
C0345916  |  ampullary tumor  |  1
C0948303  |  peritoneal carcinoma  |  1
C0001418  |  adenocarcinomas  |  1
C0242604  |  thyroid hormone resistance  |  1
C0010635  |  mucinous cystadenoma  |  1
C0242363  |  pancreatic endocrine tumor  |  1
C0030920  |  peptic ulcers  |  1
C0205698  |  undifferentiated carcinoma  |  1
C0272126  |  evans syndrome  |  1
C0040100  |  thymoma  |  1
C0020598  |  hypoglycemia  |  1
C0024305  |  non-hodgkin's lymphoma  |  1
C0007112  |  prostate adenocarcinoma  |  1
C0013295  |  duodenal ulcer  |  1
C0004775  |  hypokalemic alkalosis  |  1
C0087086  |  thrombi  |  1
C0023895  |  liver disease  |  1
C0010635  |  mucinous cystadenomas  |  1
C0011603  |  dermatitis  |  1
C0041341  |  tuberous sclerosis  |  1
C0017154  |  atrophic gastritis  |  1
C0007129  |  merkel cell carcinoma  |  1
C0025267  |  men type 1  |  1
C0334121  |  inflammatory pseudotumor  |  1
C1333321  |  duodenal gastrinoma  |  1
C0019829  |  hodgkin's lymphoma  |  1
C0019562  |  von hippel-lindau syndrome (vhl)  |  1
C0040053  |  thrombosis  |  1
C0001339  |  acute pancreatitis  |  1
C0149521  |  chronic pancreatitis  |  1
C0041341  |  tuberous sclerosis complex  |  1
C0024110  |  lung abscess  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:17)
SDHA  |  6389  |  GHR
KIF1B  |  23095  |  GHR
RET  |  5979  |  GHR
TYMS  |  7298  |  CTD_human
BRAF  |  673  |  CTD_human
ATRX  |  546  |  CTD_human
CDKN1B  |  1027  |  CLINVAR;CTD_human
MEN1  |  4221  |  CTD_human
SDHD  |  6392  |  GHR
SDHB  |  6390  |  GHR
VHL  |  7428  |  GHR
TMEM127  |  55654  |  GHR
PTHLH  |  5744  |  CTD_human
SSTR1  |  6751  |  CTD_human
SSTR2  |  6752  |  CTD_human
SSTR3  |  6753  |  CTD_human
DAXX  |  1616  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:170)
6344  |  SCTR  |  DISEASES
5837  |  PYGM  |  DISEASES
54474  |  KRT20  |  DISEASES
6343  |  SCT  |  DISEASES
1113  |  CHGA  |  DISEASES
5173  |  PDYN  |  DISEASES
479  |  ATP12A  |  DISEASES
9057  |  SLC7A6  |  DISEASES
7249  |  TSC2  |  DISEASES
6530  |  SLC6A2  |  DISEASES
7038  |  TG  |  DISEASES
1048  |  CEACAM5  |  DISEASES
6198  |  RPS6KB1  |  DISEASES
5539  |  PPY  |  DISEASES
1027  |  CDKN1B  |  DISEASES
2026  |  ENO2  |  DISEASES
2691  |  GHRH  |  DISEASES
23397  |  NCAPH  |  DISEASES
4852  |  NPY  |  DISEASES
11328  |  FKBP9  |  DISEASES
58158  |  NEUROD4  |  DISEASES
6745  |  SSR1  |  DISEASES
26030  |  PLEKHG3  |  DISEASES
112399  |  EGLN3  |  DISEASES
3630  |  INS  |  DISEASES
83878  |  USHBP1  |  DISEASES
25796  |  PGLS  |  DISEASES
3727  |  JUND  |  DISEASES
2670  |  GFAP  |  DISEASES
6754  |  SSTR4  |  DISEASES
4922  |  NTS  |  DISEASES
10752  |  CHL1  |  DISEASES
2922  |  GRP  |  DISEASES
85004  |  RERG  |  DISEASES
5156  |  PDGFRA  |  DISEASES
55654  |  TMEM127  |  DISEASES
57569  |  ARHGAP20  |  DISEASES
3417  |  IDH1  |  DISEASES
29953  |  TRHDE  |  DISEASES
4673  |  NAP1L1  |  DISEASES
23483  |  TGDS  |  DISEASES
57534  |  MIB1  |  DISEASES
495  |  ATP4A  |  DISEASES
8455  |  ATRN  |  DISEASES
6855  |  SYP  |  DISEASES
2034  |  EPAS1  |  DISEASES
23095  |  KIF1B  |  DISEASES
5443  |  POMC  |  DISEASES
6389  |  SDHA  |  DISEASES
1616  |  DAXX  |  DISEASES
429  |  ASCL1  |  DISEASES
6751  |  SSTR1  |  DISEASES
7157  |  TP53  |  DISEASES
5409  |  PNMT  |  DISEASES
207  |  AKT1  |  DISEASES
9616  |  RNF7  |  DISEASES
158763  |  ARHGAP36  |  DISEASES
6570  |  SLC18A1  |  DISEASES
1392  |  CRH  |  DISEASES
4851  |  NOTCH1  |  DISEASES
7762  |  ZNF215  |  DISEASES
120379  |  PIH1D2  |  DISEASES
4613  |  MYCN  |  DISEASES
5741  |  PTH  |  DISEASES
7345  |  UCHL1  |  DISEASES
6750  |  SST  |  DISEASES
3815  |  KIT  |  DISEASES
6781  |  STC1  |  DISEASES
6755  |  SSTR5  |  DISEASES
4760  |  NEUROD1  |  DISEASES
6746  |  SSR2  |  DISEASES
6571  |  SLC18A2  |  DISEASES
54949  |  SDHAF2  |  DISEASES
5617  |  PRL  |  DISEASES
3479  |  IGF1  |  DISEASES
7857  |  SCG2  |  DISEASES
5066  |  PAM  |  DISEASES
10465  |  PPIH  |  DISEASES
794  |  CALB2  |  DISEASES
27087  |  B3GAT1  |  DISEASES
3265  |  HRAS  |  DISEASES
6868  |  ADAM17  |  DISEASES
947  |  CD34  |  DISEASES
5519  |  PPP2R1B  |  DISEASES
4684  |  NCAM1  |  DISEASES
6863  |  TAC1  |  DISEASES
10160  |  FARP1  |  DISEASES
66000  |  TMEM108  |  DISEASES
4191  |  MDH2  |  DISEASES
64764  |  CREB3L2  |  DISEASES
3855  |  KRT7  |  DISEASES
6753  |  SSTR3  |  DISEASES
2520  |  GAST  |  DISEASES
796  |  CALCA  |  DISEASES
8013  |  NR4A3  |  DISEASES
9112  |  MTA1  |  DISEASES
885  |  CCK  |  DISEASES
4221  |  MEN1  |  DISEASES
3363  |  HTR7  |  DISEASES
23583  |  SMUG1  |  DISEASES
1978  |  EIF4EBP1  |  DISEASES
4089  |  SMAD4  |  DISEASES
1431  |  CS  |  DISEASES
7080  |  NKX2-1  |  DISEASES
83593  |  RASSF5  |  DISEASES
55107  |  ANO1  |  DISEASES
5979  |  RET  |  DISEASES
6752  |  SSTR2  |  DISEASES
1644  |  DDC  |  DISEASES
4763  |  NF1  |  DISEASES
4149  |  MAX  |  DISEASES
11005  |  SPINK5  |  DISEASES
9643  |  MORF4L2  |  DISEASES
4311  |  MME  |  DISEASES
128239  |  IQGAP3  |  DISEASES
2475  |  MTOR  |  DISEASES
259230  |  SGMS1  |  DISEASES
3880  |  KRT19  |  DISEASES
2271  |  FH  |  DISEASES
54583  |  EGLN1  |  DISEASES
7432  |  VIP  |  DISEASES
23612  |  PHLDA3  |  DISEASES
6391  |  SDHC  |  DISEASES
25950  |  RWDD3  |  DISEASES
5236  |  PGM1  |  DISEASES
81030  |  ZBP1  |  DISEASES
5728  |  PTEN  |  DISEASES
7422  |  VEGFA  |  DISEASES
2740  |  GLP1R  |  DISEASES
546  |  ATRX  |  DISEASES
9054  |  NFS1  |  DISEASES
9790  |  BMS1  |  DISEASES
5089  |  PBX2  |  DISEASES
195828  |  ZNF367  |  DISEASES
8859  |  STK19  |  DISEASES
6390  |  SDHB  |  DISEASES
6392  |  SDHD  |  DISEASES
158471  |  PRUNE2  |  DISEASES
3274  |  HRH2  |  DISEASES
7536  |  SF1  |  DISEASES
64344  |  HIF3A  |  DISEASES
644096  |  SDHAF1  |  DISEASES
1114  |  CHGB  |  DISEASES
2925  |  GRPR  |  DISEASES
4781  |  NFIB  |  DISEASES
1045  |  CDX2  |  DISEASES
7054  |  TH  |  DISEASES
4267  |  CD99  |  DISEASES
2315  |  MLANA  |  DISEASES
11202  |  KLK8  |  DISEASES
55216  |  C11orf57  |  DISEASES
1621  |  DBH  |  DISEASES
56901  |  NDUFA4L2  |  DISEASES
4828  |  NMB  |  DISEASES
5744  |  PTHLH  |  DISEASES
594857  |  NPS  |  DISEASES
6611  |  SMS  |  DISEASES
2641  |  GCG  |  DISEASES
4295  |  MLN  |  DISEASES
3481  |  IGF2  |  DISEASES
1029  |  CDKN2A  |  DISEASES
7849  |  PAX8  |  DISEASES
10201  |  NME6  |  DISEASES
6949  |  TCOF1  |  DISEASES
26521  |  TIMM8B  |  DISEASES
100288485  |  MTRNR2L7  |  DISEASES
57128  |  LYRM4  |  DISEASES
391104  |  VHLL  |  DISEASES
2696  |  GIPR  |  DISEASES
692084  |  SNORD13  |  DISEASES
Locus(Waiting for update.)
Disease ID 1050
Disease neuroendocrine tumor
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:45)
HP:0002664  |  Neoplasia  |  30
HP:0100570  |  Carcinoid tumor  |  16
HP:0100568  |  Endocrine neoplasia  |  7
HP:0030731  |  Carcinoma  |  5
HP:0003072  |  Hypercalcemia  |  3
HP:0002014  |  Diarrhea  |  3
HP:0001733  |  Pancreatic inflammation  |  2
HP:0002027  |  Abdominal pain  |  2
HP:0002835  |  Aspiration  |  2
HP:0002582  |  Chronic atrophic gastritis  |  2
HP:0002665  |  Lymphoma  |  2
HP:0001067  |  Neurofibromas  |  2
HP:0012531  |  Pain  |  2
HP:0009792  |  Teratoma  |  2
HP:0100634  |  Neuroendocrine neoplasia  |  2
HP:0030828  |  Wheezing  |  2
HP:0002666  |  Pheochromocytoma  |  2
HP:0000845  |  Acromegalic growth  |  2
HP:0004398  |  Peptic ulcer  |  1
HP:0008249  |  Large thyroid  |  1
HP:0006723  |  Intestinal carcinoid  |  1
HP:0001508  |  Weight faltering  |  1
HP:0008208  |  Parathyroid hyperplasia  |  1
HP:0010550  |  Paraplegia  |  1
HP:0001987  |  Hyperammonemia  |  1
HP:0001409  |  Portal hypertension  |  1
HP:0100522  |  Thymoma  |  1
HP:0002459  |  Dysautonomia  |  1
HP:0006280  |  Chronic pancreas inflammation  |  1
HP:0001988  |  hypoglycemia, recurrent  |  1
HP:0002176  |  Spinal cord compression  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0001949  |  Hypokalemic alkalosis  |  1
HP:0001541  |  Ascites  |  1
HP:0100526  |  Neoplasm of the lung  |  1
HP:0001943  |  Hypoglycemia  |  1
HP:0010783  |  Erythema  |  1
HP:0002858  |  Mengiomia  |  1
HP:0100790  |  Hernia  |  1
HP:0002271  |  Autonomic dysregulation  |  1
HP:0030405  |  Pancreatic endocrine tumor  |  1
HP:0002930  |  Resistance to thyroid hormone  |  1
HP:0001289  |  Confusion  |  1
HP:0100723  |  Gastrointestinal stroma tumor  |  1
Disease ID 1050
Disease neuroendocrine tumor
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0494165  |  liver metastases  |  34
C0206754  |  neuroendocrine neoplasm  |  2
C0153690  |  bone metastases  |  1
C0001339  |  acute pancreatitis  |  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
rs121908586175660865156PDGFRAumls:C0206754BeFreeMultiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation can occur in the germline state and lead to a syndrome that should not be confused with other genetic conditions associated with a predisposition to NETs and other tumors.0.0005428842007PDGFRA454274869TA
rs797044481NA1027CDKN1Bumls:C0206754CLINVARNA0.243267234NACDKN1B;GPR191212717966CTAA
rs797044482NA1027CDKN1Bumls:C0206754CLINVARNA0.243267234NACDKN1B;GPR191212718118-T
rs797044483NA1027CDKN1Bumls:C0206754CLINVARNA0.243267234NACDKN1B;GPR191212718173A-
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:4)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0206754everolimusD000068338-neuroendocrine tumorsMESH:D018358therapeutic21306238
C0206754interferon alfacon-1C050739118390-30-0neuroendocrine tumorsMESH:D018358therapeutic17331326
C0206754octreotideD01528283150-76-9neuroendocrine tumorsMESH:D018358therapeutic1322274
C0206754paclitaxelD017239-neuroendocrine tumorsMESH:D018358therapeutic11468447
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)