Thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms).

Input patient's signs and symptoms

Narrow down the case reports

Total: 978 (papers)

(per page)

Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (50.2%)	29464836	The presentation and management of platelet disorders in pregnancy. Goldman BG, Hehir MP, Yambasu S, O'Donnell EM. Eur J Haematol. 2018;100(6):560-566. [ Show abstract ] [ Hide abstract ]
		Thrombocytopenia Absent radius


		Adult Biological Markers Blood Platelet Disorders Disease Management Females Homo sapiens Incidence Phenotype Pregnancy Pregnancy Complications, Hematologic
2 (40.9%)	22567017 (3332179)	Moxifloxacin (avelox) induced thrombotic thrombocytopenic purpura. Surana SP, Sardinas Z, Multz AS. Case Rep Med. 2012;2012:459140. [ Show abstract ] [ Hide abstract ]
		Sinusitis



2 (40.9%)	15211963	[Clinical reasoning and decision-making in practice. A man with jaundice, renal function disorder, thrombocytopenia, muscular pain and confusion]. Huits RM, van der Werf TS, Zijlstra JG. Ned Tijdschr Geneeskd. 2004;148(23):1137-41. [ Show abstract ] [ Hide abstract ]
		Sinusitis


		Anti-Bacterial Agents Differential Diagnosis Homo sapiens Icterus Kidney Diseases Male Middle Aged Thrombocytopenia Weil Disease Zoonoses
2 (40.9%)	11126658	[A case of systemic lupus erythematosus associated with thrombotic thrombocytopenic purpura manifestating homonymous hemianopsia]. Kingetsu I, Kurosaka D, Hashimoto N, Tajima N. Nihon Rinsho Meneki Gakkai Kaishi. 1999;22(2):80-5. [ Show abstract ] [ Hide abstract ]
		Sinusitis


		Adult Brain Females Hemianopsia Homo sapiens Lupus Erythematosus, Systemic Magnetic Resonance Imaging Purpura, Thrombotic Thrombocytopenic
5 (37.8%)	15461768	A pruritic linear urticarial rash, fever, and systemic inflammatory disease in five adolescents: adult-onset still disease or systemic juvenile idiopathic arthritis sine arthritis? Prendiville JS, Tucker LB, Cabral DA, Crawford RI. Pediatr Dermatol. 2004;21(5):580-8. [ Show abstract ] [ Hide abstract ]
		Arthritis Periorbital edema


		Adult-Onset Still Disease Blood Chemical Analysis Child Differential Diagnosis Females Homo sapiens Inflammation Male Pruritus Urticaria
6 (35.3%)	17221322	A dramatic response to rituximab in a patient with resistant thrombotic thrombocytopenic purpura (TTP) who developed acute stroke. Ozdogu H, Boga C, Kizilkilic E, Yeral M, Kozanoglu I, Karatas M. J Thromb Thrombolysis. 2007;23(2):147-50. [ Show abstract ] [ Hide abstract ]
		Facial paralysis


		Adult Antibodies, Monoclonal, Murine-Derived Antirheumatic Agents Females Homo sapiens Immunologic Factors Monoclonal Antibodies Purpura, Thrombotic Thrombocytopenic
6 (35.3%)	16921072	Thrombotic thrombocytopenic purpura mimicking acute ischemic stroke. Aksay E, Kiyan S, Ersel M, Hudaverdi O. Emerg Med J. 2006;23(9):e51. [ Show abstract ] [ Hide abstract ]
		Facial paralysis


		Acute Disease Adult Differential Diagnosis Homo sapiens Male Plasma Exchange Purpura, Thrombotic Thrombocytopenic
6 (35.3%)	9538636 (4531942)	A case of Wegener's granulomatosis complicated by diffuse pulmonary hemorrhage and thrombotic thrombocytopenic purpura. Lim HE, Jo SK, Kim SW, Choi HK, Suh IB, Yoon SY, Moon JS, Won NH, Kwon YJ, Pyo HJ. Korean J Intern Med. 1998;13(1):68-71. [ Show abstract ] [ Hide abstract ]
		Facial palsy


		Females Hemorrhage Homo sapiens Purpura, Thrombotic Thrombocytopenic
9 (29.4%)	28815344	Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency. Naviglio S, Soncini E, Vairo D, Lanfranchi A, Badolato R, Porta F. J Clin Immunol. 2017;37(7):701-706. [ Show abstract ] [ Hide abstract ]
		Keratoconjunctivitis
		STAT1

		Child, Preschool Homo sapiens Immunologic Deficiency Syndromes Male
10 (27.8%)	27609730 (5016747)	An improbable and unusual case of thrombotic thrombocytopenia purpura. Patel J, Patel P, Ahmed Z. J Community Hosp Intern Med Perspect. 2016;6(4):32258. [ Show abstract ] [ Hide abstract ]
		Gingival bleeding

Phenotype(s) retrieved from Orphanet

Total: 22

HPO ID	Term	Frequency
HP:0001873	Thrombocytopenia	Very frequent (99-80%)
HP:0001923	Reticulocytosis	Very frequent (99-80%)
HP:0001937	Microangiopathic hemolytic anemia	Very frequent (99-80%)
HP:0002094	Dyspnea	Very frequent (99-80%)
HP:0003324	Generalized muscle weakness	Very frequent (99-80%)
HP:0001250	Seizures	Frequent (79-30%)
HP:0001259	Coma	Frequent (79-30%)
HP:0001289	Confusion	Frequent (79-30%)
HP:0001297	Stroke	Frequent (79-30%)
HP:0002014	Diarrhea	Frequent (79-30%)
HP:0002027	Abdominal pain	Frequent (79-30%)
HP:0002315	Headache	Frequent (79-30%)
HP:0045040	Abnormal lactate dehydrogenase activity	Frequent (79-30%)
HP:0000083	Renal insufficiency	Occasional (29-5%)
HP:0000093	Proteinuria	Occasional (29-5%)
HP:0000707	Abnormality of the nervous system	Occasional (29-5%)
HP:0000790	Hematuria	Occasional (29-5%)
HP:0001658	Myocardial infarction	Occasional (29-5%)
HP:0001945	Fever	Occasional (29-5%)
HP:0011675	Arrhythmia	Occasional (29-5%)
HP:0001919	Acute kidney injury	Very rare (4-1%)
HP:0012101	Decreased serum creatinine	Very rare (4-1%)

Phenotype(s) retrieved from case reports

Total: 153

HPO ID	Term	# of case reports
HP:0001873	Thrombocytopenia	161
HP:0005575	Hemolytic-uremic syndrome	131
HP:0001937	Microangiopathic hemolytic anemia	81
HP:0001945	Fever	63
HP:0001878	Hemolytic anemia	26
HP:0001903	Anemia	26
HP:0005521	Disseminated intravascular coagulation	19
HP:0000979	Purpura	18
HP:0000822	Hypertension	14
HP:0002721	Immunodeficiency	14
HP:0001297	Stroke	11
HP:0001733	Pancreatitis	11
HP:0001735	Acute pancreatitis	11
HP:0100806	Sepsis	10
HP:0000541	Retinal detachment	9
HP:0001250	Seizures	7
HP:0001298	Encephalopathy	7
HP:0000083	Renal insufficiency	6
HP:0001658	Myocardial infarction	6
HP:0002090	Pneumonia	6
HP:0012115	Hepatitis	6
HP:0100584	Endocarditis	6
HP:0000123	Nephritis	5
HP:0001919	Acute kidney injury	5
HP:0002140	Ischemic stroke	5
HP:0002315	Headache	5
HP:0100601	Eclampsia	5
HP:0001370	Rheumatoid arthritis	4
HP:0001875	Neutropenia	4
HP:0012636	Retinal vein occlusion	4
HP:0100758	Gangrene	4
HP:0000100	Nephrotic syndrome	3
HP:0001394	Cirrhosis	3
HP:0001981	Schistocytosis	3
HP:0006859	Posterior leukoencephalopathy	3
HP:0012125	Prostate cancer	3
HP:0030731	Carcinoma	3
HP:0040223	Pulmonary hemorrhage	3
HP:0100279	Ulcerative colitis	3
HP:0100502	Vitamin B12 deficiency	3
HP:0000097	Focal segmental glomerulosclerosis	2
HP:0000790	Hematuria	2
HP:0001638	Cardiomyopathy	2
HP:0001876	Pancytopenia	2
HP:0001923	Reticulocytosis	2
HP:0001974	Leukocytosis	2
HP:0002133	Status epilepticus	2
HP:0002204	Pulmonary embolism	2
HP:0002381	Aphasia	2
HP:0002861	Melanoma	2
HP:0002955	Granulomatosis	2
HP:0005268	Spontaneous abortion	2
HP:0012089	Arteritis	2
HP:0012231	Exudative retinal detachment	2
HP:0030149	Cardiogenic shock	2
HP:0031475	Nonconvulsive status epilepticus	2
HP:0200119	Acute hepatitis	2
HP:0200123	Chronic hepatitis	2
HP:0000093	Proteinuria	1
HP:0000099	Glomerulonephritis	1
HP:0000112	Nephropathy	1
HP:0000282	Facial edema	1
HP:0000488	Retinopathy	1
HP:0000572	Visual loss	1
HP:0000613	Photophobia	1
HP:0000648	Optic atrophy	1
HP:0000726	Dementia	1
HP:0000793	Membranoproliferative glomerulonephritis	1
HP:0000819	Diabetes mellitus	1
HP:0000821	Hypothyroidism	1
HP:0000873	Diabetes insipidus	1
HP:0000967	Petechiae	1
HP:0001019	Erythroderma	1
HP:0001082	Cholecystitis	1
HP:0001096	Keratoconjunctivitis	1
HP:0001260	Dysarthria	1
HP:0001269	Hemiparesis	1
HP:0001279	Syncope	1
HP:0001287	Meningitis	1
HP:0001289	Confusion	1
HP:0001342	Cerebral hemorrhage	1
HP:0001645	Sudden cardiac death	1
HP:0001695	Cardiac arrest	1
HP:0001824	Weight loss	1
HP:0001882	Leukopenia	1
HP:0001909	Leukemia	1
HP:0001948	Alkalosis	1
HP:0001950	Respiratory alkalosis	1
HP:0001953	Diabetic ketoacidosis	1
HP:0002018	Nausea	1
HP:0002027	Abdominal pain	1
HP:0002093	Respiratory insufficiency	1
HP:0002098	Respiratory distress	1
HP:0002113	Pulmonary infiltrates	1
HP:0002155	Hypertriglyceridemia	1
HP:0002157	Azotemia	1
HP:0002181	Cerebral edema	1
HP:0002527	Falls	1
HP:0002583	Colitis	1
HP:0002637	Cerebral ischemia	1
HP:0002653	Bone pain	1
HP:0002756	Pathologic fracture	1
HP:0002835	Aspiration	1
HP:0002860	Squamous cell carcinoma	1
HP:0002862	Bladder carcinoma	1
HP:0002878	Respiratory failure	1
HP:0003003	Colon cancer	1
HP:0003077	Hyperlipidemia	1
HP:0003125	Reduced factor VIII activity	1
HP:0003201	Rhabdomyolysis	1
HP:0003401	Paresthesia	1
HP:0003470	Paralysis	1
HP:0003974	Absent radius	1
HP:0005263	Gastritis	1
HP:0005305	Cerebral venous thrombosis	1
HP:0006689	Bacterial endocarditis	1
HP:0007209	Facial paralysis	1
HP:0007302	Bipolar affective disorder	1
HP:0007902	Vitreous hemorrhage	1
HP:0010628	Facial palsy	1
HP:0011497	Iris neovascularization	1
HP:0011869	Abnormal platelet function	1
HP:0012050	Anasarca	1
HP:0012151	Hemothorax	1
HP:0012158	Carotid artery dissection	1
HP:0012234	Agranulocytosis	1
HP:0012251	ST segment elevation	1
HP:0012378	Fatigue	1
HP:0012578	Membranous nephropathy	1
HP:0012593	Nephrotic range proteinuria	1
HP:0012819	Myocarditis	1
HP:0025337	Red eye	1
HP:0025342	Central retinal artery occlusion	1
HP:0025615	Abscess	1
HP:0030157	Flank pain	1
HP:0030243	Hepatic vein thrombosis	1
HP:0030907	Thunderclap headache	1
HP:0031047	Paraproteinemia	1
HP:0031273	Shock	1
HP:0031864	Bacteremia	1
HP:0032147	Erythromelalgia	1
HP:0032369	Alkalemia	1
HP:0040222	Maternal thrombophilia	1
HP:0040276	Adenocarcinoma of the colon	1
HP:0100027	Recurrent pancreatitis	1
HP:0100598	Pulmonary edema	1
HP:0100603	Toxemia of pregnancy	1
HP:0100726	Kaposi's sarcoma	1
HP:0100753	Schizophrenia	1
HP:0200023	Priapism	1
HP:0200114	Metabolic alkalosis	1
HP:0410263	Brain imaging abnormality	1
HP:0500093	Food allergy	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID