TTP
MCID: THR005
MIFTS: 60

Thrombotic Thrombocytopenic Purpura (TTP)

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Thrombotic Thrombocytopenic Purpura

MalaCards integrated aliases for Thrombotic Thrombocytopenic Purpura:

Name: Thrombotic Thrombocytopenic Purpura 11 42 58 28 5 14 63 75 33
Purpura, Thrombotic Thrombocytopenic 19 42 75 43 71
Ttp 19 42 58
Idiopathic Thrombotic Thrombocytopenic Purpura 19 53
Thrombotic Thrombocytopenic Purpura, Acquired 19 71
Moschcowitz Disease 58 33
Chronic Relapsing Thrombotic Thrombocytopenic Purpura 42
Congenital Thrombotic Thrombocytopenic Purpura 71
Autoimmune Thrombotic Thrombocytopenic Purpura 71
Familial Thrombotic Thrombocytopenia Purpura 42
Familial Thrombotic Thrombocytopenic Purpura 71
Ttp - [thrombotic Thrombocytopenic Purpura] 33
Purpura Thrombotic Thrombocytopenic 53
Microangiopathic Hemolytic Anemia 71
Moschcowitz's Syndrome 11
Moschcowitz Syndrome 33
Moschowitz Syndrome 19
Moschkowitz Disease 42

Characteristics:


Inheritance:

Autosomal recessive,Multigenic/multifactorial 58

Prevelance:

1-9/1000000 (Worldwide) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare renal diseases
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:10772
MeSH 43 D011697
NCIt 49 C78797
SNOMED-CT 68 360402008
MESH via Orphanet 44 D011697
ICD10 via Orphanet 32 M31.1
UMLS via Orphanet 72 C0034155
Orphanet 58 ORPHA54057
ICD11 33 1708277768
UMLS 71 C0034155 C0221021 C1268935 more

Summaries for Thrombotic Thrombocytopenic Purpura

MedlinePlus Genetics: 42 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 purpura, and has symptoms including tremor and fever. 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 Complement cascade. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and kidney, and related phenotypes are thrombocytopenia and dyspnea

PubMed Health : 63 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.

GARD: 19 Thrombotic thrombocytopenic purpura (TTP), acquired is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause medical problems if they block vessels and decrease or stop blood flow to organs such as the brain, kidneys, and heart. Complications may include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Hemolytic anemia can lead to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Acquired TTP usually begins in adulthood, but can affect children. An episode of TTP usually occurs suddenly and lasts for days or weeks, but it may continue for months. Relapses (or flareups) can occur in up to 60 percent of people who have the acquired TTP. Acquired TTP is caused when a person's body mistakingly makes antibodies that block the activity of the ADAMTS13 enzyme. THe ADAMTS13 enzyme normally helps control the activity of certain blood clotting factors.

Orphanet: 58 An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form.

Wikipedia: 75 Thrombotic thrombocytopenic purpura (TTP) is a blood disorder that results in blood clots forming in... more...

Related Diseases for Thrombotic Thrombocytopenic Purpura

Diseases in the Thrombotic Thrombocytopenic Purpura family:

Thrombotic Thrombocytopenic Purpura, Hereditary

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

(show top 50) (show all 798)
# Related Disease Score Top Affiliating Genes
1 thrombotic thrombocytopenic purpura, hereditary 33.6 HP CFH ADAMTS13
2 purpura 32.3 VWF THBD SERPINC1 SELP F3 APOH
3 thrombocytopenia due to platelet alloimmunization 31.6 VWF SELP F3 ADAMTS13
4 acute kidney failure 31.6 HP CFH ADAMTS13
5 d-minus hemolytic uremic syndrome 31.4 CFI CFH CD46 ADAMTS13
6 thrombocytopenic purpura, autoimmune 31.2 SELP F8 F3 ADAMTS13
7 eclampsia 31.1 THBD SERPINC1 F3 APOH
8 endocarditis 31.0 SERPINE1 SERPINC1 APOH
9 factor viii deficiency 31.0 VWF SERPINC1 HBB F8 F3
10 evans' syndrome 31.0 HP APOH ADAMTS13
11 disseminated intravascular coagulation 31.0 VWF THBD SERPINE1 SERPINC1 PPIC F3
12 sickle cell disease 30.9 SELP HBB ADAMTSL1
13 end stage renal disease 30.9 THBD CFI CFH CD46
14 anemia, autoimmune hemolytic 30.9 HP APOH ADAMTS13
15 deficiency anemia 30.9 VWF SERPINC1 HP HBB F3 CFHR2
16 infective endocarditis 30.9 VWF F3 CFHR2
17 central retinal vein occlusion 30.8 SERPINC1 F3 APOH
18 hemolytic uremic syndrome, atypical 1 30.8 VWF THBD SELP HP F3 CFI
19 hemolytic anemia 30.8 VWF THBD HP HBB F3 CFI
20 bilirubin metabolic disorder 30.8 VWF SERPINC1 HP F3 CFHR2 ADAMTS13
21 hemophilia a 30.7 VWF F8 F3
22 moyamoya disease 1 30.7 VWF SERPINC1 F3
23 intermediate coronary syndrome 30.7 VWF SERPINC1 SELP F3
24 respiratory failure 30.7 VWF THBD SERPINE1 SERPINC1 F3
25 transient cerebral ischemia 30.6 VWF SERPINC1 F3 APOH
26 coronary thrombosis 30.6 VWF SERPINE1 SERPINC1 F3
27 purpura fulminans 30.6 THBD SERPINC1 F3 ADAMTS13
28 malignant hypertension 30.6 VWF HP CFHR2 CFH CD46 ADAMTS13
29 liver cirrhosis 30.6 SERPINC1 HP F3 ADAMTS13
30 papilledema 30.5 SERPINC1 F3 APOH
31 polyarteritis nodosa 30.5 SELP SELE APOH
32 lemierre's syndrome 30.5 SERPINC1 F3
33 collagen disease 30.5 VWF THBD CFHR2 CD36 APOH
34 hemoglobinuria 30.5 THBD SERPINC1 SELP HP CFI
35 membranous nephropathy 30.5 SERPINE1 HP CFHR2
36 nonbacterial thrombotic endocarditis 30.5 VWF SERPINC1 F3 APOH
37 anuria 30.4 HP F3 CFHR2 ADAMTS13
38 cavernous hemangioma 30.4 VWF SERPINC1 F3
39 vasculitis 30.4 VWF THBD SELP SELE APOH
40 von willebrand's disease 30.4 VWF SERPINC1 SELP F8 F3 ADAMTS13
41 vitamin k deficiency bleeding 30.4 SERPINC1 F8 F3
42 raynaud disease 30.4 VWF THBD SELE APOH ADAMTS13
43 retinal vein occlusion 30.4 VWF SERPINE1 SERPINC1 F3 APOH
44 placental abruption 30.4 SERPINC1 F3 CFHR2 APOH
45 central retinal artery occlusion 30.4 SERPINC1 F3
46 hemolytic-uremic syndrome 30.3 VWF THBD SERPINE1 SERPINC1 SELP HP
47 essential thrombocythemia 30.3 VWF THBD SERPINE1 SELP
48 ischemic colitis 30.3 SERPINC1 F3
49 retinal vascular occlusion 30.3 SERPINC1 F3 APOH
50 von willebrand disease, type 2 30.3 VWF F8 ADAMTS13

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



Diseases related to Thrombotic Thrombocytopenic Purpura

Symptoms & Phenotypes for Thrombotic Thrombocytopenic Purpura

Human phenotypes related to Thrombotic Thrombocytopenic Purpura:

58 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001873
2 dyspnea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002094
3 reticulocytosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001923
4 generalized muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003324
5 microangiopathic hemolytic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001937
6 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
7 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002027
8 stroke 58 30 Frequent (33%) Frequent (79-30%)
HP:0001297
9 headache 58 30 Frequent (33%) Frequent (79-30%)
HP:0002315
10 coma 58 30 Frequent (33%) Frequent (79-30%)
HP:0001259
11 diarrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002014
12 confusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0001289
13 abnormal lactate dehydrogenase level 30 Frequent (33%) HP:0045040
14 proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000093
15 fever 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001945
16 myocardial infarction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001658
17 hematuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000790
18 arrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011675
19 acute kidney injury 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001919
20 decreased serum creatinine 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012101
21 renal insufficiency 58 Occasional (29-5%)
22 abnormality of the nervous system 58 Occasional (29-5%)
23 abnormal lactate dehydrogenase activity 58 Frequent (79-30%)

UMLS symptoms related to Thrombotic Thrombocytopenic Purpura:


tremor; fever

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.21 ADAMTS13 ADAMTSL1 APOH CD36 CD46 CFH
2 no effect GR00402-S-2 10.21 ADAMTS13 ADAMTSL1 APOH CD36 CD46 CFH

MGI Mouse Phenotypes related to Thrombotic Thrombocytopenic Purpura:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 ADAMTS13 APOH CD36 CFH CFI F3
2 immune system MP:0005387 10.16 ADAMTS13 CD36 CFH CFI F3 F8
3 cardiovascular system MP:0005385 10.1 CD36 CD46 CFH F3 HP SELE
4 renal/urinary system MP:0005367 10.09 CD36 CFH CFI HP SELP SERPINC1
5 liver/biliary system MP:0005370 10.06 CD36 HBB HP SELE SELP SERPINC1
6 hematopoietic system MP:0005397 9.86 ADAMTS13 CD36 CFH CFI F3 F8
7 vision/eye MP:0005391 9.81 ADAMTS13 CD36 CD46 CFH F3 SELE
8 mortality/aging MP:0010768 9.5 ADAMTS13 APOH CD36 CFH F3 F8

Drugs & Therapeutics for Thrombotic Thrombocytopenic Purpura

PubMed Health treatment related to Thrombotic Thrombocytopenic Purpura: 63

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 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
6
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
8 Hormones Phase 4
9
Methylprednisolone Acetate Phase 4 584547
10
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
11
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
12
Magnesium sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9
13
Acetylsalicylic acid Approved, Vet_approved Phase 2, Phase 3 50-78-2 2244
14
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
15
Rituximab Approved Phase 3 174722-31-7
16 Anti-Infective Agents Phase 3
17 Calcineurin Inhibitors Phase 3
18 Cyclosporins Phase 3
19 Antifungal Agents Phase 3
20 Dermatologic Agents Phase 3
21 Neuroprotective Agents Phase 2, Phase 3
22 Antiemetics Phase 2, Phase 3
23 Gastrointestinal Agents Phase 2, Phase 3
24 Protective Agents Phase 2, Phase 3
25 Antineoplastic Agents, Hormonal Phase 3
26 Hormone Antagonists Phase 3
27 glucocorticoids Phase 3
28 Immunosuppressive Agents Phase 3
29 Pharmaceutical Solutions Phase 3
30 Immunoglobulins Phase 3
31 Antibodies Phase 3
32 Anti-Arrhythmia Agents Phase 3
33 Calcium, Dietary Phase 3
34 Anticonvulsants Phase 3
35 Anesthetics Phase 3
36 calcium channel blockers Phase 3
37 Tocolytic Agents Phase 3
38 Anti-Inflammatory Agents Phase 2, Phase 3
39 Analgesics Phase 2, Phase 3
40 Fibrinolytic Agents Phase 2, Phase 3
41 Antipyretics Phase 2, Phase 3
42 Cyclooxygenase Inhibitors Phase 2, Phase 3
43 Platelet Aggregation Inhibitors Phase 2, Phase 3
44 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
45 Analgesics, Non-Narcotic Phase 2, Phase 3
46 Antirheumatic Agents Phase 3
47 Immunologic Factors Phase 3
48 Antineoplastic Agents, Immunological Phase 3
49
Calcium Nutraceutical Phase 3 7440-70-2 271
50
Acetaminophen Approved Phase 2 103-90-2 1983

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Safety of Bortezomib as First-line Treatment for Acquired Thrombotic Thrombocytopenic Purpura Not yet recruiting NCT05135442 Phase 4 Bortezomib Injection
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 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
4 An Open-label Multicenter Trial to Study the Efficacy and Safety of Caplacizumab in Japanese Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT04074187 Phase 2, Phase 3 Caplacizumab (ALX-0081);Plasma exchange (PE);Corticosteroid treatment (Methylprednisolone or prednisolone);Immunosuppressive treatment (eg, rituximab)
5 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
6 Prospective Follow-up Study for Patients Who Completed Study ALX0681-C301 (HERCULES) to Evaluate Long-term Safety and Efficacy of Caplacizumab (Post-HERCULES) Completed NCT02878603 Phase 3
7 A Phase 3b, Prospective, Open-label, Multicenter, Single Treatment Arm, Continuation Study of the Safety and Efficacy of TAK-755 (rADAMTS13, Also Known as BAX 930/SHP655) in the Prophylactic and On-demand Treatment of Subjects With Severe Congenital Thrombotic Thrombocytopenic Purpura (cTTP; Upshaw-Schulman Syndrome, or Hereditary Thrombotic Thrombocytopenic Purpura) Recruiting NCT04683003 Phase 3
8 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 Subjects With Severe Congenital Thrombotic Thrombocytopenic Purpura (cTTP, Upshaw-Schulman Syndrome [USS], Hereditary Thrombotic Thrombocytopenic Purpura [hTTP]) Recruiting NCT03393975 Phase 3
9 An Open-label, Single-arm, Multicenter Study to Evaluate the Efficacy and Safety of Caplacizumab and Immunosuppressive Therapy Without Firstline Therapeutic Plasma Exchange in Adults With Immune-mediated Thrombotic Thrombocytopenic Purpura Recruiting NCT05468320 Phase 3 Caplacizumab;Corticosteroids
10 Interest of Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care: Multicentric Randomized Controlled Trial Active, not recruiting NCT03237819 Phase 3 Sulfate, Magnesium;Placebo - Concentrate
11 A Prospective Multicenter Clinical Study of Aspirin for Prophylaxis in Patients With Hereditary or Acquired Thrombotic Thrombocytopenic Purpura Not yet recruiting NCT05568147 Phase 2, Phase 3 Aspirin tablet;Placebo
12 A Blinded Non-inferiority Study to Compare Uniplas With Cryosupernatant Plasma in Thrombotic Thrombocytopenic Purpura (TTP) Terminated NCT00411801 Phase 3
13 STAR - Study of TTP and Rituximab, A Randomized Clinical Trial Terminated NCT00799773 Phase 3 Rituximab;Corticosteroids
14 The Plasma Large-Volume Exchange Randomized Controlled Trial (PLEX-RCT) Withdrawn NCT01433003 Phase 3
15 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
16 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
17 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) Unknown status NCT04021173 Phase 2 Anfibatide;Placebos
18 Romiplostim in Combination With Low-dose Rituximab and High-dose Dexamethasone as Frontline Treatment for Immune Thrombocytopenia Unknown status NCT04588194 Phase 2 Romiplostim;Rituximab;Dexamethasone
19 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 Completed NCT03922308 Phase 2 SHP655
20 Association of Rituximab to Plasma Exchange in Adult Acquired Idiopathic Thrombotic Thrombocytopenic Purpura Completed NCT00907751 Phase 2 rituximab
21 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
22 Adjuvant Low Dose Rituximab for Acquired TTP With Severe ADAMTS13 Deficiency Completed NCT01554514 Phase 2
23 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
24 Efficacy of a Personalized Caplacizumab Regimen Based on ADAMTS13 Activity Monitoring in Adult Acquired Thrombotic Thrombocytopenic Purpura: A Phase II, Multicenter Non-inferiority Single-arm Study. Not yet recruiting NCT04720261 Phase 2 Caplacizumab
25 Phase II Study of Danazol With Plasma Exchange and Steroids for the Treatment of Thrombotic Thrombocytopenic Purpura Terminated NCT00953771 Phase 2 Danazol
26 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
27 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
28 Use of Rituximab Treatment in Addition to Standard Care for Newly Presenting Thrombotic Thrombocytopenic Purpura Withdrawn NCT00251277 Phase 1, Phase 2 Rituximab
29 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
30 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 Unknown status NCT03605511
31 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
32 ADAMTS13-related Prognostic Factors in Adult and Pediatric Thrombotic Thrombocytopenic Purpura Completed NCT00426686
33 Identification of Early Predictive Factors of Cardiac and Cerebral Involvement in Thrombotic Microangiopathies Completed NCT02134171
34 Observational, Real-life Study of the Use of octaplasLG®. Completed NCT03369314 octaplasLG®
35 A Pilot Study of N-acetylcysteine in Suspected Thrombotic Thrombocytopenia Purpura Completed NCT01808521 Early Phase 1 N-Acetylcysteine
36 Thrombotic Thrombocytopenic Purpura Registry - A Prospective Observational Study for Patients Suffering From Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
37 Construction of a Database for Thrombotic Thrombocytopenic Purpura Recruiting NCT05571774
38 Improvement of Immunologic and Molecular Techniques for the Diagnosis and Follow-up of Patients With Thrombotic Thrombocytopenic Purpura: a Collaborative Study Proposal of the Spanish Apheresis Group (GEA) in Collaboration With the Spanish Foundation of Hematology and Hemotherapy (FEHH) Recruiting NCT05046717
39 The United Kingdom Thrombotic Thrombocytopenic Purpura Registry Recruiting NCT03832881
40 A Prospective Study on the Long-Term Vascular Burden in Thrombotic Thrombocytopenic Purpura Patients Recruiting NCT03187652
41 The ConNeCT Study: Neurological Complications of Thrombotic Thrombocytopenic Purpura Recruiting NCT04981028
42 Retrospective Analysis of the Efficiency of Caplacizumab in the Treatment of Acquired Thrombotic Thrombocytopenic Purpura (aTTP)- REACT-2020 Recruiting NCT04985318 Cablivi®
43 German TTP- Registry- Prospective Cohort of Patients With Acquired Thrombotic Thrombocytopenic Purpura (aTTP): Pathophysiology, Diagnosis, Treatment and Follow-Up Recruiting NCT05389007
44 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
45 Retrospective Data Collection of Pediatric Patients With Immune-mediated Thrombotic Thrombocytopenic Purpura (iTTP) Treated With Caplacizumab Active, not recruiting NCT05263193 Caplacizumab
46 A Retrospective, Observational Study on the Response to Caplacizumab Treatment in aTTP Patients: the Italian Experience (ROSCAPLI) Not yet recruiting NCT05262881
47 Post-Marketing Requirement Study to Evaluate the Safety and Efficacy of Octaplas™ in Patients With Thrombotic Thrombocytopenic Purpura With Special Emphasis on Monitoring the Occurrence of Thromboembolic Events Terminated NCT01938404 Standard Plasma
48 An Observational Study of All Forms of Thrombotic Microangiopathy in Pediatric Patients Terminated NCT00593229
49 The Role of Microparticles as a Biomarker in Distinguishing Between Thrombotic Thrombocytopenic Purpura (TTP) and Atypical Hemolytic Uremic Syndrome (aHUS) Withdrawn NCT02626663

Search NIH Clinical Center for Thrombotic Thrombocytopenic Purpura

Cochrane evidence based reviews: purpura, thrombotic thrombocytopenic

Genetic Tests for Thrombotic Thrombocytopenic Purpura

Genetic tests related to Thrombotic Thrombocytopenic Purpura:

# Genetic test Affiliating Genes
1 Thrombotic Thrombocytopenic Purpura 28

Anatomical Context for Thrombotic Thrombocytopenic Purpura

Organs/tissues related to Thrombotic Thrombocytopenic Purpura:

MalaCards : Heart, Skin, Kidney, Brain, Bone Marrow, Endothelial, Bone

Publications for Thrombotic Thrombocytopenic Purpura

Articles related to Thrombotic Thrombocytopenic Purpura:

(show top 50) (show all 5252)
# Title Authors PMID Year
1
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 5
31064749 2019
2
Acquired, noncongenital thrombotic thrombocytopenic purpura in children and adolescents: clinical management and the use of ADAMTS 13 assays. 53 62
20083997 2010
3
Amino acid residues Arg(659), Arg(660), and Tyr(661) in the spacer domain of ADAMTS13 are critical for cleavage of von Willebrand factor. 53 62
20075158 2010
4
Von Willebrand factor, ADAMTS-13, and thrombotic thrombocytopenic purpura. 53 62
20391298 2010
5
A 9-month-old infant with acquired idiopathic thrombotic thrombocytopenic purpura caused by inhibitory IgG-autoantibody to ADAMTS13. 53 62
20121555 2010
6
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. 53 62
19847791 2010
7
Demographic and ADAMTS13 biomarker data as predictors of early recurrences of idiopathic thrombotic thrombocytopenic purpura. 53 62
19674080 2009
8
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. 53 62
19786614 2009
9
Adamalysins in biology and disease. 53 62
19662664 2009
10
Reduced ADAMTS13 activity in delayed cerebral ischemia after aneurysmal subarachnoid hemorrhage. 53 62
19584892 2009
11
Novel evaluation method for densitometric curves of von Willebrand factor multimers and a new parameter (M(MW)) to describe the degree of multimersation. 53 62
19652894 2009
12
Heterogeneous pathogenic processes of thrombotic microangiopathies in patients with connective tissue diseases. 53 62
19652889 2009
13
Characterization of conformation-sensitive antibodies to ADAMTS13, the von Willebrand cleavage protease. 53 62
19654870 2009
14
Detection of intracellular ADAMTS13, a secreted zinc-metalloprotease, via flow cytometry. 53 62
19526483 2009
15
Leukocyte proteases cleave von Willebrand factor at or near the ADAMTS13 cleavage site. 53 62
19541819 2009
16
The active conformation of von Willebrand factor in patients with thrombotic thrombocytopenic purpura in remission. 53 62
19548905 2009
17
VH1-69 germline encoded antibodies directed towards ADAMTS13 in patients with acquired thrombotic thrombocytopenic purpura. 53 62
19054323 2009
18
Thrombotic microangiopathies: towards a pathophysiology-based classification. 53 62
19275576 2009
19
Mechanisms of microvascular thrombosis in thrombotic thrombocytopenic purpura. 53 62
19180123 2009
20
The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura. 53 62
19116307 2009
21
ADAMTS13 binds to CD36: a potential mechanism for platelet and endothelial localization of ADAMTS13. 53 62
19389207 2009
22
Correction of ADAMTS13 deficiency by in utero gene transfer of lentiviral vector encoding ADAMTS13 genes. 53 62
18957966 2009
23
Effect of blood group on idiopathic thrombotic thrombocytopenic purpura. 53 62
19591220 2009
24
Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children. 53 62
18574602 2009
25
Effect of prophylactic cyclosporine therapy on ADAMTS13 biomarkers in patients with idiopathic thrombotic thrombocytopenic purpura. 53 62
18821711 2008
26
Thrombotic thrombocytopenic purpura associated with severe acute pancreatitis in a context of decreased ADAMTS13 activity: a case report. 53 62
18989146 2008
27
[Genetic polymorphism of von Willebrand factor (VWF)-cleaving protease, ADAMTS13]. 53 62
19069166 2008
28
Von Willebrand factor: another janus-faced hemostasis protein. 53 62
19085767 2008
29
Rapid quantitative assay of ADAMTS13 activity on an automated coagulation analyzer: clinical applications and comparison with immunoblot method. 53 62
18528825 2008
30
Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura. 53 62
18574040 2008
31
The VWF/ADAMTS13 axis in the antiphospholipid syndrome: ADAMTS13 antibodies and ADAMTS13 dysfunction. 53 62
18341632 2008
32
Association between thrombotic microangiopathy and reduced ADAMTS13 activity in malignant hypertension. 53 62
18332284 2008
33
[Hemolytic uremic syndrome and thrombotic thrombocytopenic purpura. Current perspectives on EHEC, complement mutations and ADAMTS13]. 53 62
18561752 2008
34
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. 53 62
18031293 2008
35
ADAMTS13 and anti-ADAMTS13 antibodies as markers for recurrence of acquired thrombotic thrombocytopenic purpura during remission. 53 62
18223285 2008
36
Pathogenesis of thrombotic microangiopathies. 53 62
18215115 2008
37
ADAMTS13 related markers and von Willebrand factor in plasma from patients with thrombotic microangiopathy (TMA). 53 62
17900666 2008
38
Linear relationship between ADAMTS13 activity and platelet dynamics even before severe thrombocytopenia. 53 62
18988930 2008
39
Thrombotic microangiopathy in a 17-year-old patient: TTP, HUS or a bit of both? 53 62
18184524 2007
40
Evidence based therapeutic apheresis in autoimmune and other hemolytic anemias. 53 62
17898570 2007
41
Cyclosporin and plasma exchange in thrombotic thrombocytopenic purpura: long-term follow-up with serial analysis of ADAMTS13 activity. 53 62
17910638 2007
42
ADAMTS-13, von Willebrand factor and related parameters in severe sepsis and septic shock. 53 62
17764538 2007
43
von Willebrand factor, von Willebrand factor-cleaving protease, and shear stress. 53 62
17979694 2007
44
Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura. 53 62
17627784 2007
45
Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). 53 62
17849048 2007
46
An IAP retrotransposon in the mouse ADAMTS13 gene creates ADAMTS13 variant proteins that are less effective in cleaving von Willebrand factor multimers. 53 62
17426255 2007
47
Coagulation parameters of thawed fresh-frozen plasma during storage at different temperatures. 53 62
17561859 2007
48
ADAMTS13 assays and ADAMTS13-deficient mice. 53 62
17414219 2007
49
Targeting the inhibitor of ADAMTS13 in thrombotic thrombocytopenic purpura. 53 62
17309338 2007
50
ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura. 53 62
17187257 2007

Variations for Thrombotic Thrombocytopenic Purpura

ClinVar genetic disease variations for Thrombotic Thrombocytopenic Purpura:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTS13 NM_139027.6(ADAMTS13):c.581G>T (p.Gly194Val) SNV Pathogenic
559578 rs1554785242 GRCh37: 9:136291360-136291360
GRCh38: 9:133426240-133426240
2 ADAMTS13 NM_139027.6(ADAMTS13):c.2209T>C (p.Cys737Arg) SNV Pathogenic
559588 rs1554791280 GRCh37: 9:136307839-136307839
GRCh38: 9:133442718-133442718
3 ADAMTS13 NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) SNV Pathogenic
68805 rs281875299 GRCh37: 9:136305465-136305465
GRCh38: 9:133440344-133440344
4 ADAMTS13 NM_139027.6(ADAMTS13):c.3400+141G>A SNV Conflicting Interpretations Of Pathogenicity
559577 rs192619276 GRCh37: 9:136320698-136320698
GRCh38: 9:133455576-133455576

Expression for Thrombotic Thrombocytopenic Purpura

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

Pathways for Thrombotic Thrombocytopenic Purpura

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 VWF THBS1 THBD SERPINE1 SERPINC1 SELP
2
Show member pathways
12.26 THBS1 SELP SELE CFI CFHR2 CFH
3
Show member pathways
11.74 VWF THBD SERPINE1 SERPINC1 F8 F3
4
Show member pathways
11.58 CFI CFH CD46
5
Show member pathways
11.45 HP HBB CD36
6 11.38 VWF THBS1 F3

GO Terms for Thrombotic Thrombocytopenic Purpura

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 10.45 APOH CD46 CFH CFI HBB HP
2 cell surface GO:0009986 10.17 THBS1 THBD F3 CD46 CD36 APOH
3 endoplasmic reticulum lumen GO:0005788 10.16 THBS1 SERPINC1 F8 ADAMTSL1 ADAMTS13
4 external side of plasma membrane GO:0009897 10.11 CD36 F3 SELE SELP THBD THBS1
5 extracellular region GO:0005576 10.07 ADAMTS13 ADAMTSL1 APOH CFH CFHR2 CFI
6 blood microparticle GO:0072562 10.03 SERPINC1 HP HBB CFH
7 collagen-containing extracellular matrix GO:0062023 10.03 APOH F3 SERPINC1 SERPINE1 THBS1 VWF
8 extracellular space GO:0005615 9.85 ADAMTS13 APOH CD36 CFH CFHR2 CFI
9 platelet alpha granule lumen GO:0031093 9.76 VWF THBS1 SERPINE1 F8

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.21 VWF THBS1 SELP SELE CD36 ADAMTSL1
2 positive regulation of cell death GO:0010942 9.91 HP HBB CD36
3 positive regulation of blood coagulation GO:0030194 9.86 THBS1 SERPINE1 CD36 APOH
4 negative regulation of blood coagulation GO:0030195 9.8 APOH SERPINE1 THBD
5 negative regulation of plasminogen activation GO:0010757 9.78 THBS1 SERPINE1
6 complement activation GO:0006956 9.77 CFI CFHR2 CFH
7 blood coagulation GO:0007596 9.77 VWF THBD SERPINC1 F8 F3 CD36
8 blood coagulation, intrinsic pathway GO:0007597 9.76 F8 APOH
9 negative regulation of fibrinolysis GO:0051918 9.76 THBS1 THBD SERPINE1 APOH
10 triglyceride transport GO:0034197 9.71 CD36 APOH
11 positive regulation of transforming growth factor beta production GO:0071636 9.67 THBS1 CD46
12 hemostasis GO:0007599 9.17 VWF THBD SERPINC1 F8 F3 ADAMTS13

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.56 VWF SERPINE1 SERPINC1 F3
2 hemoglobin binding GO:0030492 9.46 HP HBB
3 heparin binding GO:0008201 9.32 THBS1 SERPINC1 SELP CFH APOH

Sources for Thrombotic Thrombocytopenic Purpura

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....