eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thrombotic thrombocytopenic purpura | ||||
| Disease ID | 280 |
|---|---|
| Disease | thrombotic thrombocytopenic purpura |
| Definition | An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. |
| Synonym | disease, moschcowitz disease, moschkowitz moschcowitz disease moschcowitz syndrome moschcowitz's syndrome moschkowitz dis moschkowitz disease moschowitz disease moschowitz's syndrome purpura thrombopenic thrombotic purpura, thrombocytopenic, thrombotic purpura, thrombohemolytic purpura, thrombotic thrombocytopenic purpura, thrombotic thrombocytopenic [disease/finding] purpura, thrombotic thrombopenic thrombocytopenic purpura, thrombotic thrombopenic purpura, thrombotic thrombotic thrombocytopenic purpura (disorder) thrombotic thrombocytopenic purpura (ttp) thrombotic thrombocytopenic purpura [ambiguous] thrombotic thrombopenic purpura ttp ttp - thrombotic thrombocytopenic purpura |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0034155 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:49) C0024141 | systemic lupus erythematosus | 9 C0409974 | lupus erythematosus | 7 C0040034 | thrombocytopenia | 5 C0035078 | renal failure | 4 C0022660 | acute renal failure | 3 C0026272 | mixed connective tissue disease | 2 C0021053 | immune disorder | 2 C0021053 | immune disorders | 2 C0002871 | anemia | 2 C0009782 | connective tissue disease | 2 C0085253 | adult-onset still's disease | 2 C0030305 | pancreatitis | 2 C0035305 | retinal detachment | 2 C0040188 | tic disorders | 1 C0027051 | myocardial infarction | 1 C0023364 | leptospirosis | 1 C0020538 | hypertension | 1 C0008049 | varicella | 1 C0085253 | adult onset still's disease | 1 C0008325 | cholecystitis | 1 C0002878 | haemolytic anaemia | 1 C0002871 | anaemia | 1 C0027051 | myocardial infarct | 1 C0017658 | glomerulonephritis | 1 C0026654 | moyamoya syndrome | 1 C0019158 | hepatitis | 1 C0033117 | priapism | 1 C0403529 | goodpasture's syndrome | 1 C0019360 | zoster | 1 C0002878 | hemolytic anemia | 1 C0040053 | thrombosis | 1 C0034734 | raynaud's syndrome | 1 C0026654 | moyamoya | 1 C0019196 | hepatitis c | 1 C0019061 | hemolytic uremic syndrome | 1 C0010068 | coronary artery disease | 1 C0042384 | vasculitis | 1 C0162739 | hellp syndrome | 1 C0012739 | disseminated intravascular coagulation | 1 C0034065 | pulmonary embolism | 1 C0027697 | nephritis | 1 C0221239 | rapidly progressive glomerulonephritis | 1 C1527336 | sjogren syndrome | 1 C0024143 | lupus nephritis | 1 C0878544 | cardiomyopathy | 1 C0026764 | multiple myeloma | 1 C0270612 | leukoencephalopathy | 1 C1527336 | sjogren's syndrome | 1 C0001339 | acute pancreatitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 11093 | ADAMTS13 | 8.77 | DISEASES 80070 | ADAMTS20 | 1.94 | DISEASES 9719 | ADAMTSL2 | 1.978 | DISEASES 774 | CACNA1B | 1.04 | DISEASES 959 | CD40LG | 1.794 | DISEASES 629 | CFB | 2.205 | DISEASES 3075 | CFH | 3.596 | DISEASES 3426 | CFI | 3.363 | DISEASES 85443 | DCLK3 | 1.306 | DISEASES 1668 | DEFA3 | 1.102 | DISEASES 1847 | DUSP5 | 1.784 | DISEASES 2160 | F11 | 1.889 | DISEASES 2152 | F3 | 3.235 | DISEASES 2157 | F8 | 3.013 | DISEASES 646480 | FABP9 | 1.327 | DISEASES 51661 | FKBP7 | 2.203 | DISEASES 2811 | GP1BA | 2.819 | DISEASES 3030 | HADHA | 3.094 | DISEASES 3043 | HBB | 1.297 | DISEASES 3240 | HP | 3.358 | DISEASES 3456 | IFNB1 | 1.124 | DISEASES 3767 | KCNJ11 | 1.615 | DISEASES 9500 | MAGED1 | 1.222 | DISEASES 23481 | PES1 | 2.31 | DISEASES 5251 | PHEX | 4.551 | DISEASES 5328 | PLAU | 1.503 | DISEASES 23275 | POFUT2 | 2.171 | DISEASES 122183 | PRR20A | 2.383 | DISEASES 6401 | SELE | 1.556 | DISEASES 5104 | SERPINA5 | 1.521 | DISEASES 462 | SERPINC1 | 2.885 | DISEASES 5345 | SERPINF2 | 2.401 | DISEASES 83650 | SLC35G5 | 1.886 | DISEASES 2054 | STX2 | 2.342 | DISEASES 7056 | THBD | 4.039 | DISEASES 7058 | THBS2 | 2.319 | DISEASES 7060 | THBS4 | 1.217 | DISEASES 51337 | THEM6 | 1.073 | DISEASES 84000 | TMPRSS13 | 1.354 | DISEASES 90121 | TSR2 | 3.207 | DISEASES 23038 | WDTC1 | 1.908 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 280 |
|---|---|
| Disease | thrombotic thrombocytopenic purpura |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:46) C2717961 | thrombotic microangiopathy C2613439 | extramedullary haematopoiesis C2363755 | acquired protein s deficiency C1963229 | retinal detachment C1963154 | renal failure C1962966 | retinopathy C1959629 | seizure C1504665 | diabetic ketoacidosis C1504439 | reversible posterior leukoencephalopathy syndrome C1442837 | myocardial necrosis C1402315 | vascular lesions C0878544 | cardiomyopathy C0877077 | myocardial hemorrhage C0851887 | adenoviral infection C0751955 | brain infarct C0751523 | nonconvulsive status epilepticus C0398623 | thrombophilia C0270612 | leukoencephalopathy C0262405 | cerebral dysfunction C0238351 | penile gangrene C0221106 | alkalemia C0155765 | microangiopathy C0154841 | central retinal vein occlusion C0151773 | hypocellular marrow C0087086 | thrombi C0085655 | polymyositis C0042373 | vascular disorders C0040053 | thrombosis C0040034 | thrombocytopenia C0035326 | retinal vascular occlusion C0035305 | retinal detachments C0033117 | priapism C0027051 | myocardial infarction C0026654 | moyamoya disease C0026272 | mixed connective tissue disease C0024141 | systemic lupus erythematosus C0021308 | infarction C0020437 | hypercalcemia C0019829 | hodgkin's disease C0019693 | human immunodeficiency virus C0019068 | reactive hemophagocytic syndrome C0017531 | giant lymph node hyperplasia C0014804 | erythromelalgia C0007398 | catatonia C0005779 | blood coagulation disorders C0001339 | acute pancreatitis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:17) C0024141 | systemic lupus erythematosus | 9 C0040034 | thrombocytopenia | 5 C0035078 | renal failure | 4 C0019682 | human immunodeficiency virus | 2 C0035305 | retinal detachment | 2 C0026272 | mixed connective tissue disease | 2 C0036572 | seizure | 1 C0238351 | penile gangrene | 1 C0040053 | thrombosis | 1 C0878544 | cardiomyopathy | 1 C2717961 | thrombotic microangiopathy | 1 C0027051 | myocardial infarction | 1 C1504439 | reversible posterior leukoencephalopathy syndrome | 1 C0270612 | leukoencephalopathy | 1 C0021308 | infarction | 1 C0001339 | acute pancreatitis | 1 C0033117 | priapism | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11575933 | 23621748 | 7450 | VWF | umls:C0034155 | BeFree | The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to prevent thrombotic thrombocytopenic purpura (TTP) onset. | 0.019010863 | 2013 | ADAMTS13 | 9 | 133436943 | C | T |
| rs11575933 | 23621748 | 11093 | ADAMTS13 | umls:C0034155 | BeFree | The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to prevent thrombotic thrombocytopenic purpura (TTP) onset. | 0.226848999 | 2013 | ADAMTS13 | 9 | 133436943 | C | T |
| rs142572218 | 24401653 | 11093 | ADAMTS13 | umls:C0034155 | BeFree | Low incidence of ADAMTS13 missense mutation R1060W in adult Egyptian patients with thrombotic thrombocytopenic purpura. | 0.226848999 | 2013 | ADAMTS13 | 9 | 133454548 | C | T |
| rs142572218 | 18031293 | 11093 | ADAMTS13 | umls:C0034155 | BeFree | Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. | 0.226848999 | 2008 | ADAMTS13 | 9 | 133454548 | C | T |
| rs148312697 | 25442981 | 7450 | VWF | umls:C0034155 | BeFree | In Adamts13(-/-) mice, the homozygous p.D187H mutation reduced ADAMTS13 secretion and activity and contributed to TTP when these mice were triggered with recombinant human von Willebrand factor. | 0.019010863 | 2015 | ADAMTS13 | 9 | 133426218 | G | C |
| rs148312697 | 25442981 | 11093 | ADAMTS13 | umls:C0034155 | BeFree | The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice. | 0.226848999 | 2015 | ADAMTS13 | 9 | 133426218 | G | C |
| rs2301612 | 16160007 | 11093 | ADAMTS13 | umls:C0034155 | BeFree | Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic thrombocytopenic purpura (TTP) revealed the homozygous presence of 4 single nucleotide polymorphisms (SNPs) (R7W, Q448E, P618A, A732V) and a rare missense mutation (R1336W). | 0.226848999 | 2006 | ADAMTS13 | 9 | 133436862 | C | G |
| rs281875308 | 16160007 | 11093 | ADAMTS13 | umls:C0034155 | BeFree | Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic thrombocytopenic purpura (TTP) revealed the homozygous presence of 4 single nucleotide polymorphisms (SNPs) (R7W, Q448E, P618A, A732V) and a rare missense mutation (R1336W). | 0.226848999 | 2006 | ADAMTS13;CACFD1 | 9 | 133458023 | C | T |
| rs281875335 | 22075512 | 11093 | ADAMTS13 | umls:C0034155 | BeFree | A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura. | 0.226848999 | 2011 | ADAMTS13 | 9 | 133442403 | A | G |
| rs28647808 | 16160007 | 11093 | ADAMTS13 | umls:C0034155 | BeFree | Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic thrombocytopenic purpura (TTP) revealed the homozygous presence of 4 single nucleotide polymorphisms (SNPs) (R7W, Q448E, P618A, A732V) and a rare missense mutation (R1336W). | 0.226848999 | 2006 | ADAMTS13 | 9 | 133440409 | C | G |
| rs41314453 | 16160007 | 11093 | ADAMTS13 | umls:C0034155 | BeFree | Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic thrombocytopenic purpura (TTP) revealed the homozygous presence of 4 single nucleotide polymorphisms (SNPs) (R7W, Q448E, P618A, A732V) and a rare missense mutation (R1336W). | 0.226848999 | 2006 | ADAMTS13 | 9 | 133442704 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003324 | Generalized muscle weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0001919 | Acute kidney injury | MP:0011423 | kidney cortex atrophy | acquired diminution of the size of the outer portion of the kidney located between the renal capsule and the renal medulla, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pres |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0000707 | Abnormality of the nervous system | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001937 | Microangiopathic hemolytic anemia | MP:0004828 | decreased susceptibility to autoimmune hemolytic anemia | reduced likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001937 | Microangiopathic hemolytic anemia | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001289 | Confusion | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000707 | Abnormality of the nervous system | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001923 | Reticulocytosis | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001259 | Coma | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001919 | Acute kidney injury | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0003324 | Generalized muscle weakness | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001297 | Stroke | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 280 |
|---|---|
| Disease | thrombotic thrombocytopenic purpura |
| Case | (Waiting for update.) |