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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   idiopathic thrombocytopenic purpura
  

Disease ID 95
Disease idiopathic thrombocytopenic purpura
Definition
Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms.
Synonym
aitp
autoimmune thrombocytopenias
autoimmune thrombocytopenic purpura
autoimmune thrombocytopenic purpuras
disease, werlhof
disease, werlhof's
ideopath thrombocytopenic pur
idiopathic purpura
idiopathic purpura (& thrombocytopenic)
idiopathic purpura (& thrombocytopenic) (disorder)
idiopathic purpura, nos
idiopathic thrombocytopenia
idiopathic thrombocytopenia purpura
idiopathic thrombocytopenic purpura (disorder)
idiopathic thrombocytopenic purpura (itp)
idiopathic thrombocytopenic purpura, nos
idiopathic thrombocytopenic purpuras
immune purpura thrombocytopenic
immune thrombocyt purpra
immune thrombocytopenias
immune thrombocytopenic purpura
immune thrombocytopenic purpura (disorder)
immune thrombocytopenic purpuras
itp - idiopathic thrombocytopenic purpura
itp, nos
purpura, autoimmune thrombocytopenic
purpura, idiopathic thrombocytopenic
purpura, immune thrombocytopenic
purpura, thrombocytopenic, autoimmune
purpura, thrombocytopenic, idiopathic
purpura, thrombocytopenic, idiopathic [disease/finding]
purpuras, autoimmune thrombocytopenic
purpuras, idiopathic thrombocytopenic
purpuras, immune thrombocytopenic
thrombocytopenia, immune
thrombocytopenias, autoimmune
thrombocytopenias, immune
thrombocytopenic purpura immune
thrombocytopenic purpura, autoimmune
thrombocytopenic purpura, idiopathic
thrombocytopenic purpura, immune
thrombocytopenic purpuras, idiopathic
thrombocytopenic purpuras, immune
werlhof dis
werlhof disease
werlhof's disease
werlhofs dis
werlhofs disease
Orphanet
OMIM
DOID
ICD10
UMLS
C0398650
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:78)
C0040034  |  thrombocytopenia  |  6
C0009324  |  ulcerative colitis  |  4
C0155626  |  acute myocardial infarction  |  3
C0027051  |  myocardial infarct  |  3
C0027051  |  myocardial infarction  |  3
C0041296  |  tuberculosis  |  3
C0006142  |  breast cancer  |  2
C0024299  |  lymphoma  |  2
C0024305  |  non-hodgkin's lymphoma  |  2
C0002880  |  autoimmune hemolytic anemia  |  2
C0007113  |  rectal cancer  |  2
C0019829  |  hodgkin's lymphoma  |  2
C0021053  |  immune disorders  |  2
C0021053  |  immune disorder  |  2
C0041327  |  pulmonary tuberculosis  |  2
C0007134  |  renal cell carcinoma  |  2
C0040053  |  thrombosis  |  2
C0206754  |  neuroendocrine tumour  |  1
C0027122  |  myositis ossificans  |  1
C0023890  |  cirrhosis  |  1
C1140680  |  ovarian ca  |  1
C0029882  |  otitis media  |  1
C0002878  |  hemolytic anemia  |  1
C1261473  |  sarcoma  |  1
C0023449  |  acute lymphoblastic leukemia  |  1
C0042769  |  virus infection  |  1
C0398623  |  hypercoagulable state  |  1
C0009319  |  colitis  |  1
C0007785  |  cerebral infarction  |  1
C0027121  |  myositis  |  1
C0008311  |  cholangitis  |  1
C0278554  |  recurrent rectal cancer  |  1
C0007102  |  colon cancer  |  1
C0028754  |  obesity  |  1
C0007785  |  cerebral infarctions  |  1
C1140680  |  ovarian cancer  |  1
C0010072  |  coronary thrombosis  |  1
C0025289  |  meningitis  |  1
C0011633  |  dermatomyositis  |  1
C0023267  |  fibroid  |  1
C0026769  |  multiple sclerosis  |  1
C0032463  |  polycythemia vera  |  1
C0494491  |  mononeuropathy  |  1
C0014121  |  infective endocarditis  |  1
C0026764  |  myeloma  |  1
C0162739  |  hellp syndrome  |  1
C0162316  |  iron deficiency anemia  |  1
C0263666  |  juvenile dermatomyositis  |  1
C0017154  |  atrophic gastritis  |  1
C0014118  |  endocarditis  |  1
C0017152  |  gastritis  |  1
C0836924  |  thrombocytosis  |  1
C0010346  |  crohn disease  |  1
C0085652  |  pyoderma gangrenosum  |  1
C0275911  |  intestinal tuberculosis  |  1
C0042133  |  uterine fibroid  |  1
C0678222  |  breast carcinoma  |  1
C0151332  |  active tuberculosis  |  1
C0032453  |  relapsing polychondritis  |  1
C0026764  |  multiple myeloma  |  1
C0002871  |  anemia  |  1
C0041331  |  splenic tuberculosis  |  1
C0409974  |  lupus erythematosus  |  1
C0023418  |  leukemia  |  1
C0393799  |  fisher syndrome  |  1
C0007785  |  cerebral infarct  |  1
C0079731  |  b-cell non-hodgkin's lymphoma  |  1
C0341858  |  adenomyosis  |  1
C0021053  |  immune disease  |  1
C0037274  |  dermatosis  |  1
C0023448  |  lymphoblastic leukemia  |  1
C0079731  |  b-cell lymphoma  |  1
C0272126  |  evans syndrome  |  1
C0032461  |  polycythemia  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0010346  |  crohn's disease  |  1
C0019158  |  hepatitis  |  1
C0023890  |  liver cirrhosis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
9103  |  FCGR2C  |  CTD_human
11093  |  ADAMTS13  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:8)
2214  |  FCGR3A  |  CIPHER
971  |  CD72  |  CIPHER
1789  |  DNMT3B  |  CIPHER
84868  |  HAVCR2  |  CIPHER
2212  |  FCGR2A  |  CIPHER
2213  |  FCGR2B  |  CIPHER
11093  |  ADAMTS13  |  CTD_human
9103  |  FCGR2C  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:82)
11093  |  ADAMTS13  |  3.61  |  DISEASES
114899  |  C1QTNF3  |  1.003  |  DISEASES
8573  |  CASK  |  1.316  |  DISEASES
892  |  CCNC  |  1.393  |  DISEASES
930  |  CD19  |  2.72  |  DISEASES
914  |  CD2  |  1.954  |  DISEASES
958  |  CD40  |  2.222  |  DISEASES
959  |  CD40LG  |  4.724  |  DISEASES
921  |  CD5  |  1.378  |  DISEASES
1043  |  CD52  |  2.06  |  DISEASES
942  |  CD86  |  1.724  |  DISEASES
1378  |  CR1  |  1.824  |  DISEASES
541466  |  CT45A1  |  1.81  |  DISEASES
1503  |  CTPS1  |  1.509  |  DISEASES
192668  |  CYS1  |  1.223  |  DISEASES
80067  |  DCAF17  |  1.57  |  DISEASES
51428  |  DDX41  |  2.041  |  DISEASES
11325  |  DDX42  |  2.337  |  DISEASES
1668  |  DEFA3  |  1.393  |  DISEASES
1789  |  DNMT3B  |  2.345  |  DISEASES
1850  |  DUSP8  |  1.421  |  DISEASES
253738  |  EBF3  |  1.75  |  DISEASES
2152  |  F3  |  2.587  |  DISEASES
2157  |  F8  |  1.787  |  DISEASES
356  |  FASLG  |  1.909  |  DISEASES
2213  |  FCGR2B  |  1.199  |  DISEASES
2214  |  FCGR3A  |  1.923  |  DISEASES
2245  |  FGD1  |  1.373  |  DISEASES
2290  |  FOXG1  |  3.41  |  DISEASES
50943  |  FOXP3  |  2.177  |  DISEASES
2550  |  GABBR1  |  1.263  |  DISEASES
2624  |  GATA2  |  1.311  |  DISEASES
2625  |  GATA3  |  2.579  |  DISEASES
2811  |  GP1BA  |  3.122  |  DISEASES
2812  |  GP1BB  |  2.727  |  DISEASES
160897  |  GPR180  |  1.314  |  DISEASES
9146  |  HGS  |  2.085  |  DISEASES
3105  |  HLA-A  |  1.748  |  DISEASES
3123  |  HLA-DRB1  |  2.014  |  DISEASES
3214  |  HOXB4  |  1.403  |  DISEASES
3240  |  HP  |  2.194  |  DISEASES
60495  |  HPSE2  |  2.773  |  DISEASES
3440  |  IFNA2  |  2.518  |  DISEASES
3586  |  IL10  |  2.067  |  DISEASES
387755  |  INSC  |  1.301  |  DISEASES
55656  |  INTS8  |  2.286  |  DISEASES
84148  |  KAT8  |  1.118  |  DISEASES
3767  |  KCNJ11  |  1.457  |  DISEASES
3792  |  KEL  |  1.357  |  DISEASES
348120  |  LINC01193  |  1.005  |  DISEASES
4152  |  MBD1  |  1.36  |  DISEASES
4311  |  MME  |  1.438  |  DISEASES
51660  |  MPC1  |  1.609  |  DISEASES
4352  |  MPL  |  4.423  |  DISEASES
4698  |  NDUFA5  |  1.598  |  DISEASES
54872  |  PIGG  |  3.011  |  DISEASES
93183  |  PIGM  |  2.201  |  DISEASES
64840  |  PORCN  |  1.312  |  DISEASES
389362  |  PSMG4  |  2.852  |  DISEASES
5901  |  RAN  |  1.174  |  DISEASES
6007  |  RHD  |  2.019  |  DISEASES
7732  |  RNF112  |  1.201  |  DISEASES
6170  |  RPL39  |  2.268  |  DISEASES
6279  |  S100A8  |  1.483  |  DISEASES
113675  |  SDSL  |  2.035  |  DISEASES
462  |  SERPINC1  |  1.057  |  DISEASES
6452  |  SH3BP2  |  1.243  |  DISEASES
6478  |  SIAH2  |  1.477  |  DISEASES
27036  |  SIGLEC7  |  2.101  |  DISEASES
83650  |  SLC35G5  |  1.058  |  DISEASES
6625  |  SNRNP70  |  1.08  |  DISEASES
6850  |  SYK  |  2.084  |  DISEASES
54790  |  TET2  |  1.822  |  DISEASES
7056  |  THBD  |  1.429  |  DISEASES
7124  |  TNF  |  1.727  |  DISEASES
8718  |  TNFRSF25  |  1.273  |  DISEASES
10673  |  TNFSF13B  |  3.019  |  DISEASES
9652  |  TTC37  |  1.499  |  DISEASES
9094  |  UNC119  |  1.259  |  DISEASES
10090  |  UST  |  1.343  |  DISEASES
7454  |  WAS  |  1.622  |  DISEASES
23038  |  WDTC1  |  3.006  |  DISEASES
Locus(Waiting for update.)
Disease ID 95
Disease idiopathic thrombocytopenic purpura
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:49)
HP:0001873  |  Low platelet count  |  8
HP:0100279  |  Ulcerative colitis  |  4
HP:0001658  |  Myocardial infarction  |  3
HP:0002140  |  Ischemic stroke  |  3
HP:0003002  |  Breast carcinoma  |  3
HP:0001297  |  Cerebral vascular events  |  3
HP:0002960  |  Autoimmune condition  |  2
HP:0100309  |  Subdural hemorrhage  |  2
HP:0001894  |  Thrombocytosis  |  2
HP:0005584  |  Renal cell carcinoma  |  2
HP:0002665  |  Lymphoma  |  2
HP:0002170  |  Intracranial hemorrhage  |  2
HP:0012189  |  Hodgkin disease  |  2
HP:0001890  |  Autoimmune hemolytic anemia  |  2
HP:0030151  |  Cholangitis  |  1
HP:0004872  |  Recurrent abdominal hernia  |  1
HP:0012378  |  Fatigue  |  1
HP:0003613  |  Antiphospholipid antibodies  |  1
HP:0100614  |  Muscle inflammation  |  1
HP:0001681  |  Angina pectoris  |  1
HP:0100584  |  Endocarditis  |  1
HP:0002664  |  Neoplasia  |  1
HP:0002583  |  Colitis  |  1
HP:0002835  |  Aspiration  |  1
HP:0001903  |  Anemia  |  1
HP:0001891  |  Iron-deficiency anemia  |  1
HP:0006689  |  Bacterial endocarditis  |  1
HP:0030731  |  Carcinoma  |  1
HP:0006775  |  Multiple myeloma  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0001513  |  Obesity  |  1
HP:0100790  |  Hernia  |  1
HP:0001878  |  Haemolytic anaemia  |  1
HP:0001394  |  Hepatic cirrhosis  |  1
HP:0001895  |  Normochromic anemia  |  1
HP:0000388  |  Otitis media  |  1
HP:0001909  |  Leukemia  |  1
HP:0012191  |  B-cell lymphoma  |  1
HP:0001287  |  Meningitis  |  1
HP:0005263  |  Gastritis  |  1
HP:0006721  |  Acute lymphocytic leukemia  |  1
HP:0030171  |  Perirenal hematoma  |  1
HP:0001901  |  Abnormally shaped erythrocytes  |  1
HP:0100242  |  Sarcoma  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0003003  |  Colon cancer  |  1
HP:0009831  |  Single damaged nerve  |  1
HP:0100749  |  Thoracic pain  |  1
Disease ID 95
Disease idiopathic thrombocytopenic purpura
Manually Symptom
UMLS  | Name(Total Manually Symptoms:65)
C2707258  |  infections
C1962966  |  retinopathy
C1962958  |  hematoma
C1959635  |  parvovirus b19
C1550639  |  fistula
C1541923  |  infective endocarditis
C1521999  |  acute myocardial infarction
C1510428  |  cerebral abscess
C0948691  |  cerebral aspergillosis
C0948008  |  ischemic stroke
C0877172  |  spinal epidural hematoma
C0678222  |  breast cancer
C0549471  |  superior sulcus tumor
C0409675  |  juvenile ankylosing spondylitis
C0392175  |  renal hemorrhage
C0341714  |  renal lymphoma
C0340708  |  deep vein thrombosis
C0339901  |  acute respiratory infection
C0333099  |  fusiform aneurysm
C0275934  |  tuberculous gumma
C0275583  |  pulmonary nocardiosis
C0272405  |  functional asplenia
C0271814  |  silent thyroiditis
C0242770  |  bronchiolitis obliterans with organizing pneumonia
C0242383  |  age-related macular degeneration
C0241910  |  autoimmune hepatitis
C0239946  |  hepatic fibrosis
C0235560  |  airway hemorrhage
C0206061  |  interstitial pneumonia
C0162871  |  abdominal aortic aneurysm
C0162869  |  ruptured aneurysm
C0152025  |  polyneuropathy
C0151295  |  mononeuritis multiplex
C0085409  |  autoimmune polyglandular syndrome
C0085404  |  crow-fukase syndrome
C0085278  |  antiphospholipid syndrome
C0085273  |  parvovirus b19 infection
C0040034  |  thrombocytopenia
C0033680  |  protein-losing enteropathy
C0032001  |  pituitary apoplexy
C0031029  |  periapical granuloma
C0029166  |  oral manifestations
C0028242  |  nocardiosis
C0026896  |  myasthenia gravis
C0026691  |  kawasaki disease
C0026266  |  mitral regurgitation
C0024143  |  lupus nephritis
C0023804  |  multiple symmetrical lipomatosis
C0022972  |  lambert-eaton myasthenic syndrome
C0021933  |  intussusception
C0019618  |  histiocytosis
C0019125  |  hemotympanum
C0019080  |  hemorrhage
C0018818  |  ventricular septal defect
C0018817  |  atrial septal defect
C0017665  |  membranous glomerulonephritis
C0014804  |  erythromelalgia
C0014518  |  toxic epidermal necrolysis
C0009324  |  ulcerative colitis
C0008312  |  primary biliary cirrhosis
C0008311  |  cholangitis
C0007134  |  renal cell carcinoma
C0005937  |  bone cysts
C0004610  |  bacteremia
C0004030  |  aspergillosis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:14)
C0040034  |  thrombocytopenia  |  6
C0018944  |  hematoma  |  4
C0948008  |  ischemic stroke  |  3
C0019080  |  hemorrhage  |  3
C0006142  |  breast cancer  |  2
C0155626  |  acute myocardial infarction  |  2
C0009324  |  ulcerative colitis  |  1
C0025289  |  meningitis  |  1
C0019158  |  hepatitis  |  1
C0008311  |  cholangitis  |  1
C0024141  |  systemic lupus  |  1
C0014121  |  infective endocarditis  |  1
C0007134  |  renal cell carcinoma  |  1
C0026764  |  multiple myeloma  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:7)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1531092393710953342IL17Dumls:C0398650BeFreeInterleukin-27 rs153109 polymorphism and the risk for immune thrombocytopenia.0.0008143262014IL27;NPIPB81628507775TC
rs1801274254575872212FCGR2Aumls:C0398650BeFreeFCGR2A rs1801274 polymorphism is associated with risk of childhood-onset idiopathic (immune) thrombocytopenic purpura: evidence from a meta-analysis.0.0060912732014FCGR2A1161509955AG
rs2501432218281211269CNR2umls:C0398650BeFreeCNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura.0.0005428842011CNR2123875430TC
rs291016424502829406938MIR146Aumls:C0398650BeFreeHas-mir-146a rs2910164 polymorphism and risk of immune thrombocytopenia.0.0002714422014LOC285628;MIR146A5160485411CG
rs35761398218281211269CNR2umls:C0398650BeFreeCNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura.0.0005428842011NANANANANA
rs386629540218281211269CNR2umls:C0398650BeFreeCNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura.0.0005428842011NANANANANA
rs80338835237596894627MYH9umls:C0398650BeFreeR1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura.0.0008143262010MYH92236282754GA
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 95
Disease idiopathic thrombocytopenic purpura
Case(Waiting for update.)