PedAM

Pediatric Disease Annotations & Medicines


	thrombotic thrombocytopenic purpura

Disease ID	99
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	ORPHANET:54057
OMIM	OMIM:274150
DOID	DOID:10772
UMLS	C0034155
MeSH	D011697
SNOMED-CT	SNOMEDCT_US_2016_09_01:78129009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:50) C0024141 \| systemic lupus erythematosus \| 9 C0409974 \| lupus erythematosus \| 7 C0040034 \| thrombocytopenia \| 5 C0035078 \| renal failure \| 4 C0022660 \| acute renal failure \| 3 C0035305 \| retinal detachment \| 2 C0009782 \| connective tissue disease \| 2 C0002871 \| anemia \| 2 C0085253 \| adult-onset still's disease \| 2 C0030305 \| pancreatitis \| 2 C0026272 \| mixed connective tissue disease \| 2 C0040053 \| thrombosis \| 1 C0019196 \| hepatitis c \| 1 C0026654 \| moyamoya \| 1 C0040188 \| tic disorders \| 1 C0034734 \| raynaud's syndrome \| 1 C0024143 \| lupus nephritis \| 1 C0162739 \| hellp syndrome \| 1 C1527336 \| sjogren syndrome \| 1 C0001339 \| acute pancreatitis \| 1 C0019158 \| hepatitis \| 1 C0042384 \| vasculitis \| 1 C0270612 \| leukoencephalopathy \| 1 C0027051 \| myocardial infarction \| 1 C0020538 \| hypertension \| 1 C0008049 \| varicella \| 1 C0162529 \| ischemic colitis \| 1 C0023364 \| leptospirosis \| 1 C0026654 \| moyamoya syndrome \| 1 C0027051 \| myocardial infarct \| 1 C0085253 \| adult onset still's disease \| 1 C0010068 \| coronary artery disease \| 1 C0026764 \| multiple myeloma \| 1 C0021053 \| immune disorders \| 1 C0002871 \| anaemia \| 1 C0021053 \| immune disorder \| 1 C0403529 \| goodpasture's syndrome \| 1 C0221239 \| rapidly progressive glomerulonephritis \| 1 C0002878 \| haemolytic anaemia \| 1 C0027697 \| nephritis \| 1 C0012739 \| disseminated intravascular coagulation \| 1 C0878544 \| cardiomyopathy \| 1 C0034065 \| pulmonary embolism \| 1 C0033117 \| priapism \| 1 C0019061 \| hemolytic uremic syndrome \| 1 C0008325 \| cholecystitis \| 1 C0017658 \| glomerulonephritis \| 1 C1527336 \| sjogren's syndrome \| 1 C0019360 \| zoster \| 1 C0002878 \| hemolytic anemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) ADAMTS13 \| 11093 \| CTD_human;GHR F3 \| 2152 \| CTD_human TFPI \| 7035 \| CTD_human THBD \| 7056 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2162 \| F13A1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:86) 350 \| APOH \| DISEASES 5327 \| PLAT \| DISEASES 6804 \| STX1A \| DISEASES 5054 \| SERPINE1 \| DISEASES 727 \| C5 \| DISEASES 4353 \| MPO \| DISEASES 7035 \| TFPI \| DISEASES 5657 \| PRTN3 \| DISEASES 1843 \| DUSP1 \| DISEASES 718 \| C3 \| DISEASES 81494 \| CFHR5 \| DISEASES 2694 \| GIF \| DISEASES 7057 \| THBS1 \| DISEASES 3685 \| ITGAV \| DISEASES 7450 \| VWF \| DISEASES 3690 \| ITGB3 \| DISEASES 3674 \| ITGA2B \| DISEASES 6403 \| SELP \| DISEASES 2817 \| GPC1 \| DISEASES 170691 \| ADAMTS17 \| DISEASES 8128 \| ST8SIA2 \| DISEASES 81794 \| ADAMTS10 \| DISEASES 54507 \| ADAMTSL4 \| DISEASES 4841 \| NONO \| DISEASES 3948 \| LDHC \| DISEASES 23037 \| PDZD2 \| DISEASES 8526 \| DGKE \| DISEASES 9510 \| ADAMTS1 \| DISEASES 27163 \| NAAA \| DISEASES 4690 \| NCK1 \| DISEASES 5739 \| PTGIR \| DISEASES 7412 \| VCAM1 \| DISEASES 213 \| ALB \| DISEASES 5473 \| PPBP \| DISEASES 5196 \| PF4 \| DISEASES 55720 \| TSR1 \| DISEASES 10296 \| MAEA \| DISEASES 5480 \| PPIC \| DISEASES 64805 \| P2RY12 \| DISEASES 2147 \| F2 \| DISEASES 51206 \| GP6 \| DISEASES 5340 \| PLG \| DISEASES 2286 \| FKBP2 \| DISEASES 4179 \| CD46 \| DISEASES 3078 \| CFHR1 \| DISEASES 5345 \| SERPINF2 \| DISEASES 1668 \| DEFA3 \| DISEASES 2811 \| GP1BA \| DISEASES 6401 \| SELE \| DISEASES 5104 \| SERPINA5 \| DISEASES 3043 \| HBB \| DISEASES 2152 \| F3 \| DISEASES 51337 \| THEM6 \| DISEASES 23275 \| POFUT2 \| DISEASES 7060 \| THBS4 \| DISEASES 3767 \| KCNJ11 \| DISEASES 9719 \| ADAMTSL2 \| DISEASES 23481 \| PES1 \| DISEASES 3240 \| HP \| DISEASES 2157 \| F8 \| DISEASES 23038 \| WDTC1 \| DISEASES 7058 \| THBS2 \| DISEASES 3075 \| CFH \| DISEASES 462 \| SERPINC1 \| DISEASES 1847 \| DUSP5 \| DISEASES 959 \| CD40LG \| DISEASES 774 \| CACNA1B \| DISEASES 11093 \| ADAMTS13 \| DISEASES 5328 \| PLAU \| DISEASES 90121 \| TSR2 \| DISEASES 9500 \| MAGED1 \| DISEASES 7056 \| THBD \| DISEASES 122183 \| PRR20A \| DISEASES 646480 \| FABP9 \| DISEASES 5251 \| PHEX \| DISEASES 3456 \| IFNB1 \| DISEASES 3030 \| HADHA \| DISEASES 83650 \| SLC35G5 \| DISEASES 80070 \| ADAMTS20 \| DISEASES 2054 \| STX2 \| DISEASES 3426 \| CFI \| DISEASES 2160 \| F11 \| DISEASES 85443 \| DCLK3 \| DISEASES 51661 \| FKBP7 \| DISEASES 629 \| CFB \| DISEASES 84000 \| TMPRSS13 \| DISEASES
Locus	(Waiting for update.)

Disease ID	99
Disease	thrombotic thrombocytopenic purpura
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0011675 \| Arrhythmia HP:0003324 \| Generalized muscle weakness HP:0001289 \| Confusion HP:0002014 \| Diarrhea HP:0001945 \| Fever HP:0002315 \| Headache HP:0001250 \| Seizures HP:0000083 \| Renal insufficiency HP:0000707 \| Abnormality of the nervous system HP:0001259 \| Coma HP:0002094 \| Dyspnea HP:0000093 \| Proteinuria HP:0001873 \| Thrombocytopenia HP:0000790 \| Hematuria HP:0001923 \| Reticulocytosis HP:0001658 \| Myocardial infarction HP:0001919 \| Acute kidney injury HP:0001297 \| Stroke HP:0045040 \| Abnormal lactate dehydrogenase activity HP:0012101 \| Decreased serum creatinine HP:0002027 \| Abdominal pain HP:0001937 \| Microangiopathic hemolytic anemia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:40) HP:0002725 \| Systemic lupus erythematosus \| 9 HP:0001873 \| Low platelet count \| 5 HP:0000083 \| Renal insufficiency \| 4 HP:0001903 \| Anemia \| 3 HP:0001919 \| Acute renal failure \| 3 HP:0001733 \| Pancreatic inflammation \| 2 HP:0000541 \| Detached retina \| 2 HP:0002721 \| Immunodeficiency \| 2 HP:0001878 \| Haemolytic anaemia \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0012115 \| Liver inflammation \| 1 HP:0001259 \| Coma \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0000123 \| Nephritis \| 1 HP:0100758 \| Gangrene \| 1 HP:0100806 \| Sepsis \| 1 HP:0001250 \| Seizures \| 1 HP:0000822 \| Hypertension \| 1 HP:0002756 \| Pathologic fracture \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0100033 \| Tic disorder \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002633 \| Vasculitis \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0006859 \| Posterior leukoencephalopathy \| 1 HP:0002315 \| Headaches \| 1 HP:0003256 \| Coagulopathy \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0001645 \| Sudden cardiac death \| 1 HP:0001082 \| Cholecystitis \| 1 HP:0200023 \| Priapism \| 1 HP:0001735 \| Acute pancreatitis \| 1 HP:0005575 \| Hemolytic-uremic syndrome \| 1 HP:0002352 \| Leukoencephalopathy \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0001945 \| Fever \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0005521 \| Disseminated intravascular coagulation \| 1

Disease ID	99
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 C0033117 \| priapism \| 1 C0027051 \| myocardial infarction \| 1 C1504439 \| reversible posterior leukoencephalopathy syndrome \| 1 C2717961 \| thrombotic microangiopathy \| 1 C0001339 \| acute pancreatitis \| 1 C0036572 \| seizure \| 1 C0270612 \| leukoencephalopathy \| 1 C0040053 \| thrombosis \| 1 C0021308 \| infarction \| 1 C0238351 \| penile gangrene \| 1 C0878544 \| cardiomyopathy \| 1

Manually Genotype(Total Text Mining 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:9)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0034155	bleomycin	D001761	11056-06-7	purpura, thrombotic thrombocytopenic	MESH:D011697	marker/mechanism	6203452
C0034155	cyclosporine	D016572	59865-13-3	purpura, thrombotic thrombocytopenic	MESH:D011697	marker/mechanism	11604563
C0034155	cisplatin	D002945	15663-27-1	purpura, thrombotic thrombocytopenic	MESH:D011697	marker/mechanism	6203452
C0034155	gemcitabine	C056507	103882-84-4	purpura, thrombotic thrombocytopenic	MESH:D011697	marker/mechanism	20119714
C0034155	mitomycin	D016685	1950/7/7	purpura, thrombotic thrombocytopenic	MESH:D011697	marker/mechanism	11604563
C0034155	quinine	D011803	130-95-0	purpura, thrombotic thrombocytopenic	MESH:D011697	marker/mechanism	11604563
C0034155	tacrolimus	D016559	109581-93-3	purpura, thrombotic thrombocytopenic	MESH:D011697	marker/mechanism	18580733
C0034155	ticlopidine	D013988	55142-85-3	purpura, thrombotic thrombocytopenic	MESH:D011697	marker/mechanism	11604563
C0034155	tretinoin	D014212	302-79-4	purpura, thrombotic thrombocytopenic	MESH:D011697	marker/mechanism	14565670

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
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