eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| heparin-induced thrombocytopenia | ||||
| Disease ID | 1578 |
|---|---|
| Disease | heparin-induced thrombocytopenia |
| Definition | A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. |
| Synonym | heparin induced thrombocytopaenia heparin induced thrombocytopenia heparin-induced thrombocytopenia (disorder) hit |
| Orphanet | |
| UMLS | C0272285 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:24) C0040053 | thrombosis | 35 C0034065 | pulmonary embolism | 6 C0040034 | thrombocytopenia | 4 C0007102 | colon cancer | 2 C0027051 | myocardial infarction | 2 C0040028 | essential thrombocythemia | 2 C0010072 | coronary thrombosis | 2 C0027051 | myocardial infarct | 2 C0398623 | hypercoagulability | 2 C0085278 | antiphospholipid syndrome | 1 C0398623 | hypercoagulable state | 1 C0042384 | vasculitis | 1 C0272286 | immune thrombocytopenia | 1 C1565489 | renal insufficiency | 1 C0033117 | priapism | 1 C0027059 | myocarditis | 1 C0001623 | adrenal insufficiency | 1 C0040053 | thrombus | 1 C0027022 | myeloproliferative disorder | 1 C0024790 | paroxysmal nocturnal hemoglobinuria | 1 C0027022 | myeloproliferative disorders | 1 C0087086 | thrombi | 1 C0856761 | budd-chiari syndrome | 1 C0085278 | anti-phospholipid antibody syndrome | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1578 |
|---|---|
| Disease | heparin-induced thrombocytopenia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:19) HP:0002204 | Pulmonary embolism | 4 HP:0001873 | Low platelet count | 3 HP:0004420 | Arterial thrombosis | 2 HP:0003003 | Colon cancer | 2 HP:0001658 | Myocardial infarction | 2 HP:0100724 | Hypercoagulability | 2 HP:0002633 | Vasculitis | 1 HP:0200023 | Priapism | 1 HP:0000083 | Renal insufficiency | 1 HP:0001973 | Autoimmune thrombocytopenia | 1 HP:0100758 | Gangrene | 1 HP:0004936 | Blood clot in vein | 1 HP:0001695 | Cardiac arrest | 1 HP:0000846 | Hypoadrenalism | 1 HP:0005547 | Myeloproliferative disorder | 1 HP:0001410 | Decreased liver function | 1 HP:0001297 | Cerebral vascular events | 1 HP:0010783 | Erythema | 1 HP:0004818 | Paroxysmal nocturnal hemoglobinuria | 1 |
| Disease ID | 1578 |
|---|---|
| Disease | heparin-induced thrombocytopenia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:23) C1719989 | coronary artery stent thrombosis C0948089 | acute coronary syndrome C0748428 | right atrial thrombus C0524702 | pulmonary thromboembolism C0517555 | venous thrombosis C0340608 | renal artery thrombosis C0272275 | white clot syndrome C0264856 | giant cell myocarditis C0238457 | renal vein thrombosis C0151945 | cerebral venous thrombosis C0151942 | arterial thrombosis C0151693 | adrenal hemorrhage C0151467 | acute adrenal insufficiency C0149871 | deep venous thrombosis C0087086 | thrombi C0040053 | thrombosis C0040038 | thromboembolism C0038454 | stroke C0038454 | cerebral infarction C0021308 | infarction C0019154 | hepatic vein thrombosis C0019080 | hemorrhage C0017086 | gangrene |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0040053 | thrombosis | 34 C0151693 | adrenal hemorrhage | 3 C0019080 | hemorrhage | 2 C0042487 | venous thrombosis | 1 C0087086 | thrombi | 1 C0151942 | arterial thrombosis | 1 C0340608 | renal artery thrombosis | 1 C0021308 | infarction | 1 C0017086 | gangrene | 1 C0038454 | stroke | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1801274 | 19664613 | 2212 | FCGR2A | umls:C0272285 | GAD | [Development of a real-time PCR detection method for a FCGR2A polymorphism in the LightCycler and application in the heparin-induced thrombocytopenia syndrome.] | 0.003181358 | 2009 | FCGR2A | 1 | 161509955 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1578 |
|---|---|
| Disease | heparin-induced thrombocytopenia |
| Case | (Waiting for update.) |