idiopathic thrombocytopenic purpura |
Disease ID | 95 |
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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) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
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 |
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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) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:7) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs153109 | 23937109 | 53342 | IL17D | umls:C0398650 | BeFree | Interleukin-27 rs153109 polymorphism and the risk for immune thrombocytopenia. | 0.000814326 | 2014 | IL27;NPIPB8 | 16 | 28507775 | T | C |
rs1801274 | 25457587 | 2212 | FCGR2A | umls:C0398650 | BeFree | FCGR2A rs1801274 polymorphism is associated with risk of childhood-onset idiopathic (immune) thrombocytopenic purpura: evidence from a meta-analysis. | 0.006091273 | 2014 | FCGR2A | 1 | 161509955 | A | G |
rs2501432 | 21828121 | 1269 | CNR2 | umls:C0398650 | BeFree | CNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura. | 0.000542884 | 2011 | CNR2 | 1 | 23875430 | T | C |
rs2910164 | 24502829 | 406938 | MIR146A | umls:C0398650 | BeFree | Has-mir-146a rs2910164 polymorphism and risk of immune thrombocytopenia. | 0.000271442 | 2014 | LOC285628;MIR146A | 5 | 160485411 | C | G |
rs35761398 | 21828121 | 1269 | CNR2 | umls:C0398650 | BeFree | CNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura. | 0.000542884 | 2011 | NA | NA | NA | NA | NA |
rs386629540 | 21828121 | 1269 | CNR2 | umls:C0398650 | BeFree | CNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura. | 0.000542884 | 2011 | NA | NA | NA | NA | NA |
rs80338835 | 23759689 | 4627 | MYH9 | umls:C0398650 | BeFree | R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. | 0.000814326 | 2010 | MYH9 | 22 | 36282754 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 95 |
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Disease | idiopathic thrombocytopenic purpura |
Case | (Waiting for update.) |