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TTP
MCID: THR005
MIFTS: 61

Thrombotic Thrombocytopenic Purpura (TTP)

Categories: Blood diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Thrombotic Thrombocytopenic Purpura

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MalaCards integrated aliases for Thrombotic Thrombocytopenic Purpura:

Name: Thrombotic Thrombocytopenic Purpura 12 25 36 29 6 15 62
Purpura, Thrombotic Thrombocytopenic 74 25 43 71
Chronic Relapsing Thrombotic Thrombocytopenic Purpura 25
Congenital Thrombotic Thrombocytopenic Purpura 71
Familial Thrombotic Thrombocytopenia Purpura 25
Familial Thrombotic Thrombocytopenic Purpura 71
Purpura Thrombotic Thrombocytopenic 54
Microangiopathic Hemolytic Anemia 71
Moschcowitz's Syndrome 12
Moschkowitz Disease 25
Ttp 25

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Nephrological diseases Neuronal diseases Respiratory diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32


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Summaries for Thrombotic Thrombocytopenic Purpura

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Genetics Home Reference : 25 Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Complications resulting from these clots can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Blood clots normally form to stop blood loss at the sites of blood vessel injury. In people with thrombotic thrombocytopenic purpura, clots develop even in the absence of apparent injury. Blood clots are formed from clumps of cells called platelets that circulate in the blood and assist with clotting. Because a large number of platelets are used to make clots in people with thrombotic thrombocytopenic purpura, fewer platelets are available in the bloodstream. A reduced level of circulating platelets is known as thrombocytopenia. Thrombocytopenia can lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura. This disorder also causes red blood cells to break down (undergo hemolysis) prematurely. As blood squeezes past clots within blood vessels, red blood cells can break apart. A condition called hemolytic anemia occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. There are two major forms of thrombotic thrombocytopenic purpura, an acquired (noninherited) form and a familial (inherited) form. The acquired form usually appears in late childhood or adulthood. Affected individuals may have a single episode of signs and symptoms, or, more commonly, they may experience multiple recurrences over time. The familial form of this disorder is much rarer and typically appears in infancy or early childhood, although it can appear later in life. In people with the familial form, signs and symptoms often recur on a regular basis and may return during times of stress, such as during illness or pregnancy.

MalaCards based summary : Thrombotic Thrombocytopenic Purpura, also known as purpura, thrombotic thrombocytopenic, is related to thrombotic thrombocytopenic purpura, hereditary and eclampsia, and has symptoms including fever and tremor. An important gene associated with Thrombotic Thrombocytopenic Purpura is ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Cell surface interactions at the vascular wall. The drugs Magnesium Sulfate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and heart, and related phenotypes are dyspnea and generalized muscle weakness

KEGG : 36 Thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene and characterized by microangiopathic hemolytic anemia and thrombocytopenia. The idiopathic forms were found to have acquired autoantibody inhibitors of the ADAMTS13 metalloprotease.

PubMed Health : 62 About thrombotic thrombocytopenic purpura: Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body. The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop. The increased clotting that occurs in TTP also uses up platelets (PLATE-lets) in the blood. Platelets are blood cell fragments that help form blood clots. These cell fragments stick together to seal small cuts and breaks on blood vessel walls and stop bleeding. With fewer platelets available in the blood, bleeding problems can occur. People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal. "Thrombotic" (throm-BOT-ik) refers to the blood clots that form. "Thrombocytopenic" (throm-bo-cy-toe-PEE-nick) means the blood has a lower than normal number of platelets. "Purpura" (PURR-purr-ah) refers to purple bruises caused by bleeding under the skin. Bleeding under the skin also can cause tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash.

Wikipedia : 74 Thrombotic thrombocytopenic purpura (TTP) is a blood disorder that results in blood clots forming in... more...

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Related Diseases for Thrombotic Thrombocytopenic Purpura

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Diseases in the Thrombotic Thrombocytopenic Purpura family:

Thrombotic Thrombocytopenic Purpura, Hereditary Thrombotic Thrombocytopenic Purpura, Acquired

Diseases related to Thrombotic Thrombocytopenic Purpura via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 651)
# Related Disease Score Top Affiliating Genes
1 thrombotic thrombocytopenic purpura, hereditary 34.5 HP CFH ADAMTS13
2 eclampsia 31.4 THBD SERPINC1 APOH
3 raynaud phenomenon 31.1 VWF THBD APOH
4 heparin-induced thrombocytopenia 31.1 SERPINC1 F3 CD40LG
5 mixed connective tissue disease 31.0 CD40LG APOH ADAMTS13
6 endocarditis 31.0 SERPINC1 PLAT APOH
7 polyarteritis nodosa 30.9 SELP SELE APOH
8 thrombotic microangiopathy 30.9 VWF HP CFH CD46 ADAMTS13
9 purpura 30.8 VWF THBD SERPINC1 ITGB3 F3 CD40LG
10 thrombocytopenic purpura, autoimmune 30.8 SELP ITGB3 CD40LG ADAMTS13
11 placental abruption 30.8 THBD SERPINC1 APOH
12 placenta disease 30.7 SERPINC1 F3 APOH
13 evans' syndrome 30.7 HP CD40LG ADAMTS13
14 moyamoya disease 1 30.7 VWF SERPINC1 F3
15 collagen disease 30.6 VWF THBD CD40LG APOH
16 spotted fever 30.6 VWF THBD CD40LG
17 toxic shock syndrome 30.6 SERPINC1 F3 CD40LG
18 bilirubin metabolic disorder 30.6 HP F3 CD40LG ADAMTS13
19 acquired von willebrand syndrome 30.6 VWF F3 ADAMTS13
20 thrombocytopenia due to platelet alloimmunization 30.6 SELP ITGB3 CD40LG
21 acute kidney failure 30.5 HP CFH CABIN1 ADAMTS13
22 retinal vein occlusion 30.5 SERPINC1 F3 CD40LG APOH
23 anemia, autoimmune hemolytic 30.5 HP CD40LG C3
24 hemophilia b 30.4 VWF SERPINC1 F3
25 retinal vascular occlusion 30.4 SERPINC1 SELP APOH
26 hypertensive encephalopathy 30.4 CABIN1 ADAMTS13
27 acute chest syndrome 30.3 THBS1 SELP CD40LG
28 diabetic angiopathy 30.3 VWF THBD SELE
29 shwartzman phenomenon 30.3 SELE F3
30 budd-chiari syndrome 30.3 SERPINC1 F3 APOH
31 malignant hypertension 30.3 VWF THBD CFH CD46 ADAMTS13
32 nephrosclerosis 30.3 THBS1 F3 ADAMTS13
33 homocysteinemia 30.3 VWF THBD SERPINC1 APOH
34 thrombocytosis 30.2 VWF SERPINC1 SELP F3
35 intermediate coronary syndrome 30.2 VWF SERPINC1 SELP PLAT F3
36 protein s deficiency 30.2 THBD SERPINC1 F3 APOH
37 papilledema 30.2 SERPINC1 F3 CD40LG APOH
38 complement factor h deficiency 30.2 CFI CFH CD46
39 hantavirus hemorrhagic fever with renal syndrome 30.2 F3 CD40LG CABIN1
40 central retinal vein occlusion 30.2 VWF SERPINC1 PLAT F3 APOH
41 anuria 30.1 HP F3 CD40LG ADAMTS13
42 polycythemia vera 30.1 VWF THBD SELP ITGB3
43 severe pre-eclampsia 30.1 SERPINC1 CFH C3 APOH
44 vasculitis 30.1 VWF THBD SELP SELE CD40LG C3
45 respiratory failure 30.0 THBD ITGB3 F3 CD40LG
46 disseminated intravascular coagulation 30.0 VWF THBD SERPINF2 SERPINC1 SELE PLAT
47 central retinal artery occlusion 30.0 SERPINC1 PLAT CD40LG
48 coronary heart disease 1 30.0 VWF SELP SELE PLAT
49 hepatic veno-occlusive disease 29.9 THBD SERPINC1 PLAT F3
50 end stage renal disease 29.9 THBD CFI CFH CD46 C3

Graphical network of the top 20 diseases related to Thrombotic Thrombocytopenic Purpura:



Diseases related to Thrombotic Thrombocytopenic Purpura
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Symptoms & Phenotypes for Thrombotic Thrombocytopenic Purpura

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Human phenotypes related to Thrombotic Thrombocytopenic Purpura:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 dyspnea 31 hallmark (90%) HP:0002094
2 generalized muscle weakness 31 hallmark (90%) HP:0003324
3 thrombocytopenia 31 hallmark (90%) HP:0001873
4 reticulocytosis 31 hallmark (90%) HP:0001923
5 microangiopathic hemolytic anemia 31 hallmark (90%) HP:0001937
6 abdominal pain 31 frequent (33%) HP:0002027
7 stroke 31 frequent (33%) HP:0001297
8 headache 31 frequent (33%) HP:0002315
9 diarrhea 31 frequent (33%) HP:0002014
10 confusion 31 frequent (33%) HP:0001289
11 coma 31 frequent (33%) HP:0001259
12 seizure 31 frequent (33%) HP:0001250
13 abnormal lactate dehydrogenase level 31 frequent (33%) HP:0045040
14 proteinuria 31 occasional (7.5%) HP:0000093
15 fever 31 occasional (7.5%) HP:0001945
16 arrhythmia 31 occasional (7.5%) HP:0011675
17 hematuria 31 occasional (7.5%) HP:0000790
18 myocardial infarction 31 occasional (7.5%) HP:0001658
19 acute kidney injury 31 very rare (1%) HP:0001919
20 decreased serum creatinine 31 very rare (1%) HP:0012101

UMLS symptoms related to Thrombotic Thrombocytopenic Purpura:


fever, tremor

GenomeRNAi Phenotypes related to Thrombotic Thrombocytopenic Purpura according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.55 ITGB3
2 Decreased viability GR00055-A-2 9.55 ITGB3
3 Decreased viability GR00055-A-3 9.55 ITGB3
4 Decreased viability GR00221-A-2 9.55 ITGB3
5 Decreased viability GR00221-A-4 9.55 ITGB3 THBS1
6 Decreased viability GR00240-S-1 9.55 CD40LG
7 Decreased viability GR00249-S 9.55 ADAMTSL1 HP ITGB3
8 Decreased viability GR00381-A-1 9.55 PLAT SERPINF2
9 Decreased viability GR00381-A-2 9.55 SERPINF2
10 Decreased viability GR00386-A-1 9.55 C3 SELP
11 Decreased viability GR00402-S-2 9.55 ADAMTSL1 THBS1
12 Decreased replication of vaccinia virus (VACV) GR00362-A 9.13 CFH ITGB3 THBD

MGI Mouse Phenotypes related to Thrombotic Thrombocytopenic Purpura:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.36 ADAMTS13 C3 CABIN1 CD40LG CFH CFI
2 homeostasis/metabolism MP:0005376 10.36 ADAMTS13 APOH C3 CD40LG CFH CFI
3 cardiovascular system MP:0005385 10.34 C3 CD40LG CD46 CFH F3 HP
4 immune system MP:0005387 10.28 ADAMTS13 C3 CABIN1 CD40LG CFH F3
5 cellular MP:0005384 10.22 C3 CD40LG F3 HP ITGB3 PLAT
6 mortality/aging MP:0010768 10.22 ADAMTS13 APOH C3 CABIN1 CD40LG CFH
7 nervous system MP:0003631 10 C3 CD40LG CD46 CFH F3 ITGB3
8 liver/biliary system MP:0005370 9.97 C3 HP ITGB3 SELE SELP SERPINC1
9 renal/urinary system MP:0005367 9.85 C3 CD40LG CFH CFI HP ITGB3
10 respiratory system MP:0005388 9.5 F3 ITGB3 PLAT SELE SELP THBD
11 vision/eye MP:0005391 9.36 ADAMTS13 C3 CD46 CFH F3 ITGB3
Sources

Drugs & Therapeutics for Thrombotic Thrombocytopenic Purpura

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PubMed Health treatment related to Thrombotic Thrombocytopenic Purpura: 62

Thrombotic thrombocytopenic purpura (TTP) can be fatal or cause lasting damage, such as brain damage or a stroke , if it's not treated right away. In most cases, TTP occurs suddenly and lasts for days or weeks, but it can go on for months. Relapses (flareups ) can occur in up to 60 percent of people who have acquired TTP. Flareups also occur in most people who have inherited TTP. Plasma treatments are the most common way to treat TTP. Other treatments include medicines and surgery . Treatments are done in a hospital.

Drugs for Thrombotic Thrombocytopenic Purpura (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 101)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
2
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
3
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
7
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
8
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
9
Coal tar Approved Phase 3 8007-45-2
10
Etanercept Approved, Investigational Phase 3 185243-69-0
11
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
12
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
13 Anesthetics Phase 3
14 Anti-Arrhythmia Agents Phase 3
15 Anticonvulsants Phase 3
16 Tocolytic Agents Phase 3
17 Calcium, Dietary Phase 3
18 calcium channel blockers Phase 3
19 Pharmaceutical Solutions Phase 2, Phase 3
20 glucocorticoids Phase 2, Phase 3
21 Antineoplastic Agents, Hormonal Phase 2, Phase 3
22 Protective Agents Phase 2, Phase 3
23 Methylprednisolone Acetate Phase 2, Phase 3
24 Antiemetics Phase 2, Phase 3
25 Neuroprotective Agents Phase 2, Phase 3
26 Immunoglobulins, Intravenous Phase 2, Phase 3
27 Shiga Toxins Phase 2, Phase 3
28 Immunologic Factors Phase 3
29 Antirheumatic Agents Phase 3
30 Analgesics Phase 3
31 Cyclosporins Phase 3
32 Antifungal Agents Phase 3
33 Immunosuppressive Agents Phase 3
34 Anti-Infective Agents Phase 3
35 Dermatologic Agents Phase 3
36 Calcineurin Inhibitors Phase 3
37 Anti-Inflammatory Agents Phase 3
38 Gastrointestinal Agents Phase 3
39 Analgesics, Non-Narcotic Phase 3
40 Anti-Inflammatory Agents, Non-Steroidal Phase 3
41
Calcium Nutraceutical Phase 3 7440-70-2 271
42
Promethazine Approved, Investigational Phase 2 60-87-7 4927
43
Acetaminophen Approved Phase 2 103-90-2 1983
44
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
45
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
46
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
47
Defibrotide Approved, Investigational Phase 2 83712-60-1
48
Danazol Approved Phase 2 17230-88-5 28417
49
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
50
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 Influence of Plasma Exchange Therapy on the Pharmacokinetics of Rituximab in Patients Treated for Autoimmune Disorders. Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
2 Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic Purpura Withdrawn NCT01754545 Phase 4 Octaplas infusion and placebo (group 1);Octaplas infusion and placebo (group 2)
3 Interest of Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care: Multicentric Randomized Controlled Trial Unknown status NCT03237819 Phase 3 Sulfate, Magnesium;Placebo - Concentrate
4 A Phase III Double-blind, Randomized, Parallel Group, Multicenter Placebo-controlled Trial to Study the Efficacy and Safety of Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT02553317 Phase 3
5 A Multi-Center, Randomized Study of Cyclosporine or Corticosteroids as an Adjunct to Plasma Exchange in the Initial Therapy of Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT00713193 Phase 3 Cyclosporine;Prednisone
6 A Phase 3, Prospective, Randomized, Controlled, Open-Label, Multicenter, 2-Period Crossover Study With a Single Arm Continuation Evaluating the Safety and Efficacy of BAX 930 (rADAMTS13) in the Prophylactic and On-demand Treatment of Participants With Severe Congenital Thrombotic Thrombocytopenic Purpura (cTTP) (Upshaw-Schulman Syndrome) Recruiting NCT03393975 Phase 3
7 An Open-label Multicenter Trial to Study the Efficacy and Safety of Caplacizumab in Japanese Patients With Acquired Thrombotic Thrombocytopenic Purpura Recruiting NCT04074187 Phase 2, Phase 3 Caplacizumab (ALX-0081);Plasma exchange (PE);Corticosteroid treatment (Methylprednisolone or prednisolone);Immunosuppressive treatment (eg, rituximab)
8 A Double-blind, Placebo-controlled, Adaptive, Phase 2/3 Study to Evaluate the Pharmacokinetics, Safety, and Efficacy of INM004 in Pediatric Patients With Shiga Toxin-positive Bloody Diarrhea for Prevention of Hemolytic Uremic Syndrome Recruiting NCT04132375 Phase 2, Phase 3 INM004;Placebo
9 Prospective Follow-up Study for Patients Who Completed Study ALX0681-C301 (HERCULES) to Evaluate Long-term Safety and Efficacy of Caplacizumab (Post-HERCULES) Active, not recruiting NCT02878603 Phase 3
10 NATIENS: A Phase III Randomized Double-Blinded Placebo Controlled Study to Determine the Optimal Management and Mechanisms of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Not yet recruiting NCT02987257 Phase 3 Harmonized supportive care;Cyclosporine 5 mg/kg bid days 0-14;Etanercept 50 mg sc day 0 and day 3
11 A Blinded Non-inferiority Study to Compare Uniplas With Cryosupernatant Plasma in Thrombotic Thrombocytopenic Purpura (TTP) Terminated NCT00411801 Phase 3
12 STAR - Study of TTP and Rituximab, A Randomized Clinical Trial Terminated NCT00799773 Phase 3 Rituximab;Corticosteroids
13 The Plasma Large-Volume Exchange Randomized Controlled Trial (PLEX-RCT) Withdrawn NCT01433003 Phase 3
14 A Phase II Study Evaluating the Efficacy of Rituximab in the Management of Patients With Relapsed/Refractory Thrombotic Thrombocytopenic Purpura (TTP) - Hemolytic Uremic Syndrome (HUS) Unknown status NCT00531089 Phase 2 Rituximab
15 A Study to Assess the Safety, Efficacy and Tolerability of Rituximab (Mabthera) in Combination With Plasma Exchange (PEX) in Patients With Acute Thrombotic Thrombocytopenic Purpura (TTP) Unknown status NCT00937131 Phase 2 Rituximab
16 A Single-center Clinical Trial of Bortezomib in Management of Immune Thrombocytopenia (ITP) With High Anti-platelet Antibodies Level Unknown status NCT03013114 Phase 2 Bortezomib
17 Adjuvant Low Dose Rituximab for Acquired TTP With Severe ADAMTS13 Deficiency Completed NCT01554514 Phase 2
18 A Phase II, Single-blind, Randomized, Placebo-controlled Trial to Study the Efficacy and Safety of Anti-von Willebrand Factor Nanobody Administered as Adjunctive Treatment to Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT01151423 Phase 2
19 Association of Rituximab to Plasma Exchange in Adult Acquired Idiopathic Thrombotic Thrombocytopenic Purpura Completed NCT00907751 Phase 2 rituximab
20 A Phase 2 Pilot Study of the Safety, Pharmacokinetics, and Pharmacodynamics of ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779;ARC1779
21 An Open-label Safety Study of S-888711 in Adult Subjects With Relapsed Persistent or Chronic Immune Thrombocytopenia With or Without Prior Splenectomy Completed NCT01129024 Phase 2 S-888711 0.5 mg tablet
22 A Phase II Trial of Combination Therapy With Thalidomide and CPT-11 in Patients With Recurrent Anaplastic Gliomas or Glioblastoma Multiforme Completed NCT00412542 Phase 2 Thalidomide;CPT-11
23 A Phase 2, Multicenter, Randomized, Placebo-Controlled, Double-blind Study in Patients With Acquired Thrombotic Thrombocytopenic Purpura (aTTP) to Evaluate the Pharmacokinetics,Safety and Efficacy of rADAMTS-13 (SHP655) Administered in Addition to Standard Of Care (SoC) Treatment Recruiting NCT03922308 Phase 2 SHP655
24 A Pilot Trial of Using Pre-Transplant Risk Stratification and Prophylactic Defibrotide to Prevent Serious Thrombotic Microangiopathy in High-Risk Hematopoietic Stem Cell Transplant Patients Recruiting NCT03384693 Phase 2 Defibrotide
25 A Multicenter, Randomized, Double-blind, Placebo-parallel, Phase II Clinical Trial of the Efficacy and Safety of Anfibatide in Treating Patients With Acquired Thrombotic Thrombocytopenic Purpura (TTP) Not yet recruiting NCT04021173 Phase 2 Anfibatide;Placebos
26 A Phase II, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Safety and Efficacy of Cemdisiran (ALN-CC5) Following Withdrawal of Chronic Eculizumab Therapy in Patients With Atypical HUS at High Risk of Recurrence Not yet recruiting NCT03999840 Phase 2 cemdisiran;Placebos
27 Phase II Study of Danazol With Plasma Exchange and Steroids for the Treatment of Thrombotic Thrombocytopenic Purpura Terminated NCT00953771 Phase 2 Danazol
28 A Phase II Pilot Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacodynamics and Pharmacokinetics of IdeS in Asymptomatic Antibody-Mediated Thrombotic Thrombocytopenic Purpura (TTP) Patients With Low ADAMTS13 Activity Terminated NCT02854059 Phase 2
29 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Investigate the Efficacy and Safety of S-888711 Tablets Administered Once-daily for 42 Days to Adult Subjects With Relapsed Persistent or Chronic Immune Thrombocytopenia With or Without Prior Splenectomy Terminated NCT01054443 Phase 2 placebo to S-888711;S-888711;S-888711;S-888711
30 A Randomized, Double-blind, Placebo Controlled, Clinical Outcome Study of ARC1779 Injection in Patients With Thrombotic Microangiopathy Terminated NCT00726544 Phase 2 ARC 1779 Placebo;ARC1779 Injection;ARC1779 Injection;ARC1779 Injection
31 A Pilot Study Using High Dose Busulfan and Bortezomib as Part of Allogeneic Transplant Conditioning Regimen for High Risk Multiple Myeloma Patients. Terminated NCT01534143 Phase 2 tacrolimus;sirolimus;fludarabine phosphate;busulfan;bortezomib
32 Use of Rituximab Treatment in Addition to Standard Care for Newly Presenting Thrombotic Thrombocytopenic Purpura Withdrawn NCT00251277 Phase 1, Phase 2 Rituximab
33 CHIMERIC MONOCLONAL CD-20 ANTIBODY (RITUXIMAB) FOR STEROID REFRACTORY ACUTE GRAFT VERSUS HOST DISEASE (SR-AGVHD): A PILOT STUDY Withdrawn NCT00578591 Phase 2 Rituximab
34 BAX930 (rADAMTS13): A Phase 1 Prospective, Uncontrolled, Open-Label, Multicenter, Dose-Escalation Study Evaluating the Safety and Pharmacokinetics in Hereditary Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT02216084 Phase 1 Recombinant ADAMTS13
35 Levels of Von Willebrand Factor Multimers and VWF-Cleaving Protease (ADAMTS-13) in Preterm and Neonate Unknown status NCT00701610
36 Prospective Psychometric Evaluation Study of a Patient-reported Outcomes (PRO) Instrument for Congenital Thrombotic Thrombocytopenic Purpura (cTTP, Upshaw-Schulman Syndrome [USS], Hereditary Thrombotic Thrombocytopenic Purpura [hTTP] Completed NCT03519672
37 A Pilot Study of N-acetylcysteine in Suspected Thrombotic Thrombocytopenia Purpura Completed NCT01808521 Early Phase 1 N-Acetylcysteine
38 Identification of Early Predictive Factors of Cardiac and Cerebral Involvement in Thrombotic Microangiopathies Completed NCT02134171
39 ADAMTS13-related Prognostic Factors in Adult and Pediatric Thrombotic Thrombocytopenic Purpura Completed NCT00426686
40 Association Between the Quantitative Assessment of Schistocytes in Peripheral Blood Smear and Prognosis of Patient Initially Diagnosed as HELLP Syndrome. Completed NCT03246542
41 Assessment of Immature Platelet Fraction in Pregnancy-Associated Thrombotic Microangiopathy Completed NCT03232359
42 Safety of Tacrolimus And Methotrexate (MTX) Versus Tacrolimus And Mycophenolate Mofetil (MMF) As Graft Versus Host Disease Prophylaxis In Allogeneic Hematopoietic Cell Transplants (HCT) Completed NCT00360685 Tac+MTX;TAC + MMF
43 Thrombotic Thrombocytopenic Purpura Registry - A Prospective Observational Study for Patients Suffering From Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
44 A Observational Study to Determine the Prevalence of Pregnancy-related Thrombotic Thrombocytopenic Purpura and Atypical Haemolytic Uraemic Syndrome in Women Affected by Specific Obstetric Complications Recruiting NCT03605511
45 The United Kingdom Thrombotic Thrombocytopenic Purpura Registry Recruiting NCT03832881
46 A Prospective Study on the Long-Term Vascular Burden in TTP Patients Recruiting NCT03187652
47 Observational, Real-life Study of the Use of octaplasLG®. Recruiting NCT03369314 octaplasLG®
48 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
49 Azithromycin in Post Diarrheal Haemolytic and Uremic Syndrome Recruiting NCT02336516 Azithromycin;Placebo (glucose solution 10%)
50 Usefulness of a Diagnostic Algorithm to Diagnose Thrombotic Microangiopathies in Pregnancy Active, not recruiting NCT03580941

Search NIH Clinical Center for Thrombotic Thrombocytopenic Purpura

Cochrane evidence based reviews: purpura, thrombotic thrombocytopenic

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Genetic Tests for Thrombotic Thrombocytopenic Purpura

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Genetic tests related to Thrombotic Thrombocytopenic Purpura:

# Genetic test Affiliating Genes
1 Thrombotic Thrombocytopenic Purpura 29
Sources

Anatomical Context for Thrombotic Thrombocytopenic Purpura

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MalaCards organs/tissues related to Thrombotic Thrombocytopenic Purpura:

40
Kidney, Brain, Heart, Skin, Endothelial, Bone, Bone Marrow
Sources

Publications for Thrombotic Thrombocytopenic Purpura

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Articles related to Thrombotic Thrombocytopenic Purpura:

(show top 50) (show all 4571)
# Title Authors PMID Year
1
Acquired, noncongenital thrombotic thrombocytopenic purpura in children and adolescents: clinical management and the use of ADAMTS 13 assays. 61 54
20083997 2010
2
Amino acid residues Arg(659), Arg(660), and Tyr(661) in the spacer domain of ADAMTS13 are critical for cleavage of von Willebrand factor. 54 61
20075158 2010
3
Von Willebrand factor, ADAMTS-13, and thrombotic thrombocytopenic purpura. 54 61
20391298 2010
4
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. 61 54
19847791 2010
5
Adamalysins in biology and disease. 54 61
19662664 2009
6
Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura. 54 61
19786614 2009
7
Reduced ADAMTS13 activity in delayed cerebral ischemia after aneurysmal subarachnoid hemorrhage. 54 61
19584892 2009
8
Leukocyte proteases cleave von Willebrand factor at or near the ADAMTS13 cleavage site. 61 54
19541819 2009
9
Detection of intracellular ADAMTS13, a secreted zinc-metalloprotease, via flow cytometry. 61 54
19526483 2009
10
Novel evaluation method for densitometric curves of von Willebrand factor multimers and a new parameter (M(MW)) to describe the degree of multimersation. 61 54
19652894 2009
11
Characterization of conformation-sensitive antibodies to ADAMTS13, the von Willebrand cleavage protease. 54 61
19654870 2009
12
The active conformation of von Willebrand factor in patients with thrombotic thrombocytopenic purpura in remission. 61 54
19548905 2009
13
Thrombotic microangiopathies: towards a pathophysiology-based classification. 61 54
19275576 2009
14
VH1-69 germline encoded antibodies directed towards ADAMTS13 in patients with acquired thrombotic thrombocytopenic purpura. 61 54
19054323 2009
15
ADAMTS13 binds to CD36: a potential mechanism for platelet and endothelial localization of ADAMTS13. 54 61
19389207 2009
16
Mechanisms of microvascular thrombosis in thrombotic thrombocytopenic purpura. 61 54
19180123 2009
17
The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura. 54 61
19116307 2009
18
Correction of ADAMTS13 deficiency by in utero gene transfer of lentiviral vector encoding ADAMTS13 genes. 54 61
18957966 2009
19
Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children. 54 61
18574602 2009
20
Effect of blood group on idiopathic thrombotic thrombocytopenic purpura. 61 54
19591220 2009
21
Thrombotic thrombocytopenic purpura associated with severe acute pancreatitis in a context of decreased ADAMTS13 activity: a case report. 61 54
18989146 2008
22
[Genetic polymorphism of von Willebrand factor (VWF)-cleaving protease, ADAMTS13]. 54 61
19069166 2008
23
Von Willebrand factor: another janus-faced hemostasis protein. 61 54
19085767 2008
24
Rapid quantitative assay of ADAMTS13 activity on an automated coagulation analyzer: clinical applications and comparison with immunoblot method. 61 54
18528825 2008
25
Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura. 61 54
18574040 2008
26
The VWF/ADAMTS13 axis in the antiphospholipid syndrome: ADAMTS13 antibodies and ADAMTS13 dysfunction. 61 54
18341632 2008
27
Association between thrombotic microangiopathy and reduced ADAMTS13 activity in malignant hypertension. 61 54
18332284 2008
28
[Hemolytic uremic syndrome and thrombotic thrombocytopenic purpura. Current perspectives on EHEC, complement mutations and ADAMTS13]. 54 61
18561752 2008
29
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. 54 61
18031293 2008
30
ADAMTS13 and anti-ADAMTS13 antibodies as markers for recurrence of acquired thrombotic thrombocytopenic purpura during remission. 61 54
18223285 2008
31
Linear relationship between ADAMTS13 activity and platelet dynamics even before severe thrombocytopenia. 54 61
18988930 2008
32
Pathogenesis of thrombotic microangiopathies. 54 61
18215115 2008
33
ADAMTS13 related markers and von Willebrand factor in plasma from patients with thrombotic microangiopathy (TMA). 54 61
17900666 2008
34
Thrombotic microangiopathy in a 17-year-old patient: TTP, HUS or a bit of both? 61 54
18184524 2007
35
ADAMTS-13, von Willebrand factor and related parameters in severe sepsis and septic shock. 61 54
17764538 2007
36
Cyclosporin and plasma exchange in thrombotic thrombocytopenic purpura: long-term follow-up with serial analysis of ADAMTS13 activity. 61 54
17910638 2007
37
von Willebrand factor, von Willebrand factor-cleaving protease, and shear stress. 54 61
17979694 2007
38
Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). 61 54
17849048 2007
39
Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura. 61 54
17627784 2007
40
An IAP retrotransposon in the mouse ADAMTS13 gene creates ADAMTS13 variant proteins that are less effective in cleaving von Willebrand factor multimers. 61 54
17426255 2007
41
Coagulation parameters of thawed fresh-frozen plasma during storage at different temperatures. 54 61
17561859 2007
42
ADAMTS13 assays and ADAMTS13-deficient mice. 54 61
17414219 2007
43
Targeting the inhibitor of ADAMTS13 in thrombotic thrombocytopenic purpura. 54 61
17309338 2007
44
ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura. 61 54
17187257 2007
45
Intravenous gamma globulin for thrombotic microangiopathy of unknown etiology. 54 61
17058049 2007
46
The clinical utility of ADAMTS13 activity, antigen and autoantibody assays in thrombotic thrombocytopenic purpura. 54 61
17367414 2007
47
Comparison and stability of ADAMTS13 activity in therapeutic plasma products. 61 54
17207240 2007
48
Successful treatment of refractory thrombotic thrombocytopenic purpura with cyclosporine and corticosteroids in a patient with systemic lupus erythematosus and antibodies to ADAMTS13. 61 54
17603247 2007
49
The role of von Willebrand factor in hemorrhagic and thrombotic disorders. 54 61
17364690 2007
50
Decreased ADAMTS13 activity in plasma from patients with thrombotic thrombocytopenic purpura. 61 54
16797677 2007
Sources

Variations for Thrombotic Thrombocytopenic Purpura

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ClinVar genetic disease variations for Thrombotic Thrombocytopenic Purpura:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTS13 NM_139025.4(ADAMTS13):c.581G>T (p.Gly194Val)SNV Pathogenic 559578 rs1554785242 9:136291360-136291360 9:133426240-133426240
2 ADAMTS13 NM_139025.4(ADAMTS13):c.2209T>C (p.Cys737Arg)SNV Pathogenic 559588 rs1554791280 9:136307839-136307839 9:133442718-133442718
3 ADAMTS13 NM_139025.4(ADAMTS13):c.1787C>T (p.Ala596Val)SNV Pathogenic 68805 rs281875299 9:136305465-136305465 9:133440344-133440344
4 ADAMTS13 NM_139025.4(ADAMTS13):c.3541G>A (p.Gly1181Arg)SNV Benign 559577 rs192619276 9:136320698-136320698 9:133455576-133455576
Sources

Expression for Thrombotic Thrombocytopenic Purpura

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Search GEO for disease gene expression data for Thrombotic Thrombocytopenic Purpura.
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Pathways for Thrombotic Thrombocytopenic Purpura

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Pathways related to Thrombotic Thrombocytopenic Purpura according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 12.77 VWF THBS1 THBD SERPINF2 SERPINC1 SELP
2
Cell surface interactions at the vascular wall 65
Show member pathways
 12.05 THBD SELP SELE ITGB3
3
Immune response Lectin induced complement pathway 22
Show member pathways
 11.96 CFI CFH CD46 C3
4
Creation of C4 and C2 activators 65
Show member pathways
 11.9 CFI CFH CD46 C3
5
Fluid shear stress and atherosclerosis 36
11.85 THBD SELE PLAT ITGB3
6
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.83 VWF THBD SERPINF2 SERPINC1 PLAT F3
7
AGE-RAGE signaling pathway in diabetic complications 36
11.72 THBD SELE F3
8
Staphylococcus aureus infection 36
11.65 SELP CFI CFH C3
9
O-glycosylation of TSR domain-containing proteins 65
Show member pathways
 11.58 THBS1 ADAMTSL1 ADAMTS13
10
Angiogenesis (CST) 4
11.57 VWF THBS1 ITGB3 F3
11
IL4-mediated signaling events 1
11.49 SELP ITGB3 CD40LG
12
Complement and coagulation cascades 36 1
11.48 VWF THBD SERPINF2 SERPINC1 PLAT F3
13
amb2 Integrin signaling 1
11.33 SELP PLAT HP
14
Malaria 36
11.26 THBS1 SELP SELE CD40LG
15
Dissolution of Fibrin Clot 65
10.65 SERPINF2 PLAT
Sources

GO Terms for Thrombotic Thrombocytopenic Purpura

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Cellular components related to Thrombotic Thrombocytopenic Purpura according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.03 VWF THBS1 SERPINF2 SERPINC1 PLAT ITGB3
2 extracellular region GO:0005576 10 VWF THBS1 SERPINF2 SERPINC1 PLAT HP
3 collagen-containing extracellular matrix GO:0062023 9.87 VWF THBS1 SERPINF2 SERPINC1 PLAT F3
4 endoplasmic reticulum lumen GO:0005788 9.8 THBS1 SERPINC1 C3 ADAMTSL1 ADAMTS13
5 blood microparticle GO:0072562 9.77 SERPINF2 SERPINC1 HP CFH C3
6 cell surface GO:0009986 9.7 THBS1 THBD SERPINF2 PLAT ITGB3 F3
7 platelet alpha granule lumen GO:0031093 9.63 VWF THBS1 SERPINF2
8 extracellular space GO:0005615 9.5 THBS1 THBD SERPINF2 SERPINC1 SELP SELE
9 platelet alpha granule GO:0031091 9.48 VWF THBS1
10 fibrinogen complex GO:0005577 9.43 THBS1 SERPINF2

Biological processes related to Thrombotic Thrombocytopenic Purpura according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.89 THBS1 SELP SELE CD40LG C3
2 leukocyte migration GO:0050900 9.83 THBD SELP SELE ITGB3
3 integrin-mediated signaling pathway GO:0007229 9.77 ITGB3 CD40LG ADAMTS13
4 extracellular matrix organization GO:0030198 9.77 VWF THBS1 ITGB3 ADAMTSL1 ADAMTS13
5 regulation of complement activation GO:0030449 9.76 CFI CFH CD46 C3
6 platelet activation GO:0030168 9.71 VWF ITGB3 CD40LG ADAMTS13
7 hemostasis GO:0007599 9.65 VWF THBD SERPINC1 F3 ADAMTS13
8 platelet degranulation GO:0002576 9.63 VWF THBS1 SERPINF2 SELP ITGB3 APOH
9 leukocyte cell-cell adhesion GO:0007159 9.61 SELP SELE CD40LG
10 negative regulation of blood coagulation GO:0030195 9.58 THBD APOH
11 positive regulation of blood coagulation GO:0030194 9.58 THBS1 APOH
12 regulation of blood coagulation GO:0030193 9.57 SERPINC1 APOH
13 complement activation, alternative pathway GO:0006957 9.56 CFH C3
14 plasminogen activation GO:0031639 9.55 PLAT APOH
15 positive regulation of leukocyte tethering or rolling GO:1903238 9.54 SELP SELE
16 smooth muscle cell migration GO:0014909 9.51 PLAT ITGB3
17 positive regulation of transforming growth factor beta production GO:0071636 9.5 THBS1 SERPINF2 CD46
18 negative regulation of plasminogen activation GO:0010757 9.48 THBS1 SERPINF2
19 negative regulation of fibrinolysis GO:0051918 9.26 THBS1 THBD SERPINF2 APOH
20 blood coagulation GO:0007596 9.17 VWF THBD SERPINC1 PLAT ITGB3 F3

Molecular functions related to Thrombotic Thrombocytopenic Purpura according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 VWF THBS1 THBD SERPINF2 SERPINC1 SELP
2 serine-type endopeptidase activity GO:0004252 9.67 PLAT HP F3 CFI
3 heparin binding GO:0008201 9.55 THBS1 SERPINC1 SELP CFH APOH
4 oligosaccharide binding GO:0070492 9.4 SELP SELE
5 integrin binding GO:0005178 9.35 VWF THBS1 ITGB3 CD40LG ADAMTS13
6 fibrinogen binding GO:0070051 9.32 THBS1 ITGB3
7 protease binding GO:0002020 9.02 VWF SERPINF2 SERPINC1 ITGB3 F3
Sources

Sources for Thrombotic Thrombocytopenic Purpura

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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