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TTP
MCID: THR005
MIFTS: 65

Thrombotic Thrombocytopenic Purpura (TTP)

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare 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 26 38 30 6 15 64
Purpura, Thrombotic Thrombocytopenic 77 26 45 74
Microangiopathic Hemolytic Anemia 26 74
Congenital Thrombotic Thrombocytopenic Purpura 74
Familial Thrombotic Thrombocytopenia Purpura 26
Familial Thrombotic Thrombocytopenic Purpura 74
Thrombotic Microangiopathy, Familial 26
Purpura Thrombotic Thrombocytopenic 56
Moschcowitz's Syndrome 12
Moschkowitz Disease 26
Ttp 26

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Neuronal diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Thrombotic Thrombocytopenic Purpura

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PubMed Health : 64 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.

MalaCards based summary : Thrombotic Thrombocytopenic Purpura, also known as purpura, thrombotic thrombocytopenic, is related to thrombotic thrombocytopenic purpura, congenital 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 O-linked glycosylation. The drugs rituximab and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and bone, and related phenotypes are dyspnea and generalized muscle weakness

Genetics Home Reference : 26 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. Resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems.

Wikipedia : 77 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, Congenital 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 374)
# Related Disease Score Top Affiliating Genes
1 thrombotic thrombocytopenic purpura, congenital 35.0 ADAMTS13 CFH
2 purpura 31.9 ADAMTS13 APOH F3 THBD VWF
3 thrombocytopenia 31.0 ADAMTS13 APOH F3
4 disseminated intravascular coagulation 30.9 ADAMTS13 F3 THBD
5 pulmonary hypertension 30.6 F3 THBD VWF
6 mixed connective tissue disease 30.6 ADAMTS13 APOH
7 acute myocardial infarction 30.4 F3 SELP VWF
8 coronary thrombosis 30.4 F3 VWF
9 systemic lupus erythematosus 30.4 ADAMTS13 APOH F3 SELE THBD VWF
10 spotted fever 30.4 THBD VWF
11 myocardial infarction 30.3 ADAMTS13 F3 SELP THBD VWF
12 hemophilia 30.2 F3 VWF
13 hemophilia a 30.2 F3 VWF
14 polyarteritis nodosa 30.2 APOH SELE
15 vasculitis 30.1 APOH SELE THBD VWF
16 retinal vascular occlusion 30.1 APOH SELP
17 hepatic veno-occlusive disease 30.1 F3 THBD
18 buerger disease 30.0 APOH SELE
19 hemolytic uremic syndrome, atypical 1 30.0 ADAMTS13 CD46 CFH THBD VWF
20 pulmonary embolism 30.0 APOH F3 VWF
21 hemolytic-uremic syndrome 30.0 ADAMTS13 CABIN1 CD46 CFH F3 THBD
22 thrombosis 29.9 ADAMTS13 APOH F3 SELP THBD VWF
23 afibrinogenemia 29.9 CD46 F3 VWF
24 arteries, anomalies of 29.9 F3 SELE SELP VWF
25 protein s deficiency 29.8 APOH F3
26 hemorrhagic disease 29.8 ADAMTS13 F3 THBD VWF
27 von willebrand's disease 29.8 ADAMTS13 F3 SELP VWF
28 thrombophilia 29.8 APOH F3 THBD VWF
29 essential thrombocythemia 29.7 F3 SELP THBD VWF
30 membranoproliferative glomerulonephritis 29.7 CD46 CFH
31 catastrophic antiphospholipid syndrome 29.4 ADAMTS13 APOH CFH F3
32 antiphospholipid syndrome 29.3 ADAMTS13 APOH F3 SELE SELP THBD
33 pre-eclampsia 29.1 APOH F3 SELE SELP THBD VWF
34 hellp syndrome 28.9 ADAMTS13 APOH CD46 CFH F3 THBD
35 vascular disease 28.9 APOH F3 SELE SELP THBD VWF
36 malaria 28.8 ADAMTS13 ADAMTSL1 F3 SELE SELP THBD
37 thrombotic thrombocytopenic purpura, acquired 13.0
38 nephrotic syndrome, type 7 11.5
39 hemolytic uremic syndrome, atypical 2 11.3
40 hemolytic uremic syndrome, atypical 3 11.3
41 hemolytic uremic syndrome, atypical 4 11.3
42 hemolytic uremic syndrome, atypical 5 11.3
43 hemolytic uremic syndrome, atypical 6 11.3
44 lupus erythematosus 10.9
45 pancreatitis 10.7
46 acute pancreatitis 10.5
47 hepatitis 10.5
48 hemolytic anemia 10.5
49 human immunodeficiency virus infectious disease 10.5
50 connective tissue disease 10.5

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:

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

UMLS symptoms related to Thrombotic Thrombocytopenic Purpura:


tremor, fever

MGI Mouse Phenotypes related to Thrombotic Thrombocytopenic Purpura:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 CD46 CFH F3 SELE SELP THBD
2 hematopoietic system MP:0005397 9.97 ADAMTS13 CABIN1 CFH F3 SELE SELP
3 homeostasis/metabolism MP:0005376 9.91 ADAMTS13 APOH CFH F3 SELE SELP
4 immune system MP:0005387 9.81 ADAMTS13 CABIN1 CFH F3 SELE SELP
5 mortality/aging MP:0010768 9.65 ADAMTS13 APOH CABIN1 CFH F3 SELE
6 vision/eye MP:0005391 9.17 ADAMTS13 CD46 CFH F3 SELE SELP
Sources

Drugs & Therapeutics for Thrombotic Thrombocytopenic Purpura

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PubMedHealth treatment related to Thrombotic Thrombocytopenic Purpura: 64

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 128)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1 174722-31-7 10201696
2
Clopidogrel Approved Phase 4,Phase 3 120202-66-6, 113665-84-2 60606
3 Antineoplastic Agents, Immunological Phase 4,Phase 3,Phase 2,Phase 1
4 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Platelet Aggregation Inhibitors Phase 4,Phase 3
7 Purinergic P2Y Receptor Antagonists Phase 4,Phase 3
8 Purinergic P2 Receptor Antagonists Phase 4,Phase 3
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
10 Prasugrel hydrochloride Phase 4 389574-19-0
11
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
12
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
13
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
14
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
15
Tacrolimus Approved, Investigational Phase 2, Phase 3,Not Applicable 104987-11-3 445643 439492 6473866
16
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
17
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
18
Dipyridamole Approved Phase 3 58-32-2 3108
19
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
20 Anti-Inflammatory Agents Phase 3,Phase 2
21 Immunosuppressive Agents Phase 3,Phase 2,Not Applicable
22 Hormones Phase 3,Phase 2
23 Anti-Infective Agents Phase 3,Phase 2,Not Applicable,Early Phase 1
24 Hormone Antagonists Phase 3,Phase 2
25 Antineoplastic Agents, Hormonal Phase 3,Phase 2
26 Cyclosporins Phase 3
27 Antifungal Agents Phase 3,Phase 2
28 Dermatologic Agents Phase 3,Not Applicable
29 Calcineurin Inhibitors Phase 3,Phase 2,Not Applicable
30 glucocorticoids Phase 3,Phase 2
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
32 Anti-Bacterial Agents Phase 2, Phase 3,Not Applicable
33 Antibiotics, Antitubercular Phase 2, Phase 3,Not Applicable
34 Peripheral Nervous System Agents Phase 3,Phase 2
35 Anticonvulsants Phase 3
36 Analgesics Phase 3
37 Calcium, Dietary Phase 3
38 Anti-Arrhythmia Agents Phase 3
39 Anesthetics Phase 3
40 calcium channel blockers Phase 3
41 Tocolytic Agents Phase 3
42 Central Nervous System Depressants Phase 3
43 Analgesics, Non-Narcotic Phase 3
44 Cyclooxygenase Inhibitors Phase 3
45 Anti-Inflammatory Agents, Non-Steroidal Phase 3
46 Antipyretics Phase 3
47 Fibrinolytic Agents Phase 3
48
Acetaminophen Approved Phase 2 103-90-2 1983
49
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
50
Promethazine Approved, Investigational Phase 2 60-87-7 4927

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Study of the Influence of Plasma Exchange on the Pharmacokinetics of Rituximab Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
2 VERifynow in DIabetes Non-responsiveness: a Study on Switching From Clopidogrel to Prasugrel Completed NCT01684813 Phase 4 Prasugrel.;Clopidogrel
3 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)
4 Study of Cyclosporine or Corticosteroids as an Adjunct to Plasma Exchange in Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT00713193 Phase 3 Cyclosporine;Prednisone
5 Phase III Trial With Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT02553317 Phase 3
6 A Phase 3, Randomized, Controlled Study of Prophylactic and On-demand Treatment of cTTP With BAX 930 (rADAMTS13) Active, not recruiting NCT03393975 Phase 3
7 Follow-up Study for Patients Who Completed Study ALX0681-C301 (Post-HERCULES) Active, not recruiting NCT02878603 Phase 3
8 Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care Not yet recruiting NCT03237819 Phase 3 Sulfate, Magnesium;Placebo - Concentrate
9 Safety and Efficacy Study to Compare Uniplas With Cryosupernatant Plasma in Thrombotic Thrombocytopenic Purpura (TTP) Terminated NCT00411801 Phase 3
10 Evaluating the Effectiveness of Adding Rituximab to Standard Treatment for Thrombotic Thrombocytopenic Purpura (TTP) Terminated NCT00799773 Phase 3 Rituximab;Corticosteroids
11 Triple Antiplatelets for Reducing Dependency After Ischaemic Stroke Terminated NCT01661322 Phase 3 Aspirin, Dipyradimole, Clopidogrel
12 Prevention of the Graft-Versus-Host-Disease in Patients After Stem Cell Transplantation With Tacrolimus and Everolimus Terminated NCT00117702 Phase 2, Phase 3 Tacrolimus;Everolimus
13 The Plasma Large-Volume Exchange RCT Withdrawn NCT01433003 Phase 3
14 The Use of Rituximab in Acute Thrombotic Thrombocytopenic Purpura (TTP) Unknown status NCT00937131 Phase 2 Rituximab
15 Rituximab in Patients With Relapsed or Refractory TTP-HUS Unknown status NCT00531089 Phase 2 Rituximab
16 A Single-center Clinical Trial of Bortezomib in Management of Immune Thrombocytopenia (ITP) Unknown status NCT03013114 Phase 2 Bortezomib
17 Study to Assess Efficacy and Safety of Anti-von Willebrand Factor Nanobody in Patients With Acquired Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT01151423 Phase 2
18 Rituximab in Adult Acquired Idiopathic Thrombotic Thrombocytopenic Purpura Completed NCT00907751 Phase 2 rituximab
19 Thalidomide and Temozolomide or Camptothecin-11 (CPT-11) in Patients With Gliomas Completed NCT00412542 Phase 2 Thalidomide;CPT-11
20 Vinorelbine Tartrate and Cyclophosphamide in Combination With Bevacizumab or Temsirolimus in Treating Patients With Recurrent or Refractory Rhabdomyosarcoma Completed NCT01222715 Phase 2 Cyclophosphamide;Temsirolimus;Vinorelbine Tartrate
21 An Open-label Safety Study of S-888711 Completed NCT01129024 Phase 2 S-888711 0.5 mg tablet
22 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779;ARC1779
23 Ixazomib and Dexamethasone Versus Ixazomib, Dexamethasone and Lenalidomide, Randomized With NFKB2 Rearrangement Recruiting NCT02765854 Phase 2 Dexamethasone;Ixazomib;Lenalidomide
24 Low Dose Rituximab in Thrombotic Thrombocytopenic Purpura Active, not recruiting NCT01554514 Phase 2
25 Safety Study of Danazol With Plasma Exchange and Steroids for the Treatment of Thrombotic Thrombocytopenic Purpura (TTP) Terminated NCT00953771 Phase 2 Danazol
26 IdeS in Asymptomatic Asymptomatic Antibody-Mediated Thrombotic Thrombocytopenic Purpura (TTP) Patients Terminated NCT02854059 Phase 1, Phase 2
27 Clinical Outcome Study of ARC1779 Injection in Patients With Thrombotic Microangiopathy Terminated NCT00726544 Phase 2 ARC 1779 Placebo;ARC1779 Injection;ARC1779 Injection;ARC1779 Injection
28 A Study to Investigate the Efficacy and Safety of S-888711 Tablets Administered to Adult Subjects With Immune Thrombocytopenia (ITP) Terminated NCT01054443 Phase 2 placebo to S-888711;S-888711;S-888711;S-888711
29 Use of Rituximab Treatment in Addition to Standard Care for Newly Presenting Thrombotic Thrombocytopenic Purpura Withdrawn NCT00251277 Phase 1, Phase 2 Rituximab
30 Phase 1 Dose Escalation, Single Dose Study to Assess Safety and Pharmacokinetics of BAX930 in Hereditary Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT02216084 Phase 1 Recombinant ADAMTS13
31 Influence of Extracorporeal Circulation During Cardiac Surgery on the Development of Postoperative Thrombotic Thrombocytopenic Purpura (TTP) Unknown status NCT01300117
32 Levels of Von Willebrand Factor Multimers and VWF-Cleaving Protease (ADAMTS-13) in Preterm and Neonate Unknown status NCT00701610
33 ADAMTS13 in Thrombotic Thrombocytopenic Purpura Completed NCT00426686
34 Early Predictive Factors of Cardiac and Cerebral Involvement in TMA Completed NCT02134171 Not Applicable
35 Promising Bimarker Prediction of Outcome of HELLP Syndrome. Completed NCT03246542
36 European Safety Registry in Ulcerative Colitis (P04808) Completed NCT00705484 Standard Therapy
37 Tacrolimus and Mycophenolate Mofetil (MMF) in GVHD Prophylactic Regimen Compared to Tacrolimus and Methotrexate (MTX Completed NCT00360685 Not Applicable Tac+MTX;TAC + MMF
38 A Pilot Study of N-acetylcysteine in Thrombotic Thrombocytopenia Purpura Completed NCT01808521 Early Phase 1 N-Acetylcysteine
39 The United Kingdom Thrombotic Thrombocytopenic Purpura Registry (UK TTP Registry) Recruiting NCT03832881
40 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] Recruiting NCT03519672
41 Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
42 Octaplas Adult TTP Trial Recruiting NCT01938404 Standard Plasma
43 TTP and aHUS in Complicated Pregnancies Recruiting NCT03605511
44 Observational Study of the Use of octaplasLG®. Recruiting NCT03369314 octaplasLG®
45 A Prospective Study on the Long-Term Vascular Burden in TTP Patients Recruiting NCT03187652
46 Natural History Study of SCID Disorders Recruiting NCT01186913
47 International Registry and Biorepository for TMA(Thrombotic Microangiopathy) Terminated NCT00593229
48 The Role of Microparticles as a Biomarker Withdrawn NCT02626663

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 30
Sources

Anatomical Context for Thrombotic Thrombocytopenic Purpura

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MalaCards organs/tissues related to Thrombotic Thrombocytopenic Purpura:

42
Brain, Kidney, Bone, Bone Marrow, Endothelial, Skin, Heart
Sources

Publications for Thrombotic Thrombocytopenic Purpura

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Articles related to Thrombotic Thrombocytopenic Purpura:

(show top 50) (show all 2590)
# Title Authors Year
1
Association of Appendicitis, Helicobacter Pylori Positive Gastritis and Thrombotic Thrombocytopenic Purpura in an Adolescent. ( 30700693 )
2019
2
Thrombotic Microangiopathy, Hemolytic Uremic Syndrome, and Thrombotic Thrombocytopenic Purpura Following Hump-nosed Pit Viper (Genus: Hypnale) Envenoming in Sri Lanka. ( 30711421 )
2019
3
No More Thrombotic Thrombocytopenic Purpura/Hemolytic Uremic Syndrome Please. ( 30367852 )
2019
4
Successful use of TNFα blockade in a severe case of idiopathic non-granulomatous ulcerative jejunoileitis associated with thrombotic thrombocytopenic purpura. ( 30899536 )
2019
5
Refractory Thrombotic Thrombocytopenic Purpura in a patient with Kaposi sarcoma. ( 30910619 )
2019
6
Thrombotic thrombocytopenic purpura in a patient with metastatic lung cancer. ( 30871822 )
2019
7
Link between von Willebrand factor multimers, relapses and coronary microcirculation in patients with thrombotic thrombocytopenic purpura in remission. ( 30471507 )
2019
8
Thrombotic thrombocytopenic purpura: A 5-year tertiary care centre experience. ( 30536422 )
2019
9
Acquired autoimmune thrombotic thrombocytopenic purpura. ( 30586046 )
2019
10
Correction to: Transfusion of Platelets Loaded With Recombinant ADAMTS13 (A Disintegrin and Metalloprotease With Thrombospondin Type 1 Repeats-13) Is Efficacious for Inhibiting Arterial Thrombosis Associated With Thrombotic Thrombocytopenic Purpura. ( 30586332 )
2019
11
Caplacizumab Treatment for Acquired Thrombotic Thrombocytopenic Purpura. ( 30625070 )
2019
12
Prevention of relapse in patients with acquired thrombotic thrombocytopenic purpura undergoing elective surgery: a case series. ( 30629316 )
2019
13
Thrombotic thrombocytopenic purpura: Toward targeted therapy and precision medicine. ( 30656273 )
2019
14
Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura. ( 30762934 )
2019
15
Atypical Thrombotic Thrombocytopenic Purpura Presenting as Stroke. ( 30766737 )
2019
16
Characterization and treatment of congenital thrombotic thrombocytopenic purpura. ( 30770395 )
2019
17
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: Key findings at enrolment until 2017. ( 30792199 )
2019
18
Comparison of the Long-Term Remission of Rituximab and Conventional Treatment for Acquired Thrombotic Thrombocytopenic Purpura: A Systematic Review and Meta-Analysis. ( 30808221 )
2019
19
Transfer of ADAMTS13 antibodies-mediated thrombotic thrombocytopenic purpura via kidney transplantation. ( 30819908 )
2019
20
Combination of Fresh Frozen Plasma and Cryosupernatant Plasma for Therapeutic Plasma Exchange in Thrombotic Thrombocytopenic Purpura: A Single Institution Experience. ( 30834255 )
2019
21
ADDITIONAL AUTOIMMUNE DISORDERS IN PATIENTS WITH ACQUIRED AUTOIMMUNE THROMBOTIC THROMBOCYTOPENIC PURPURA. ( 30895642 )
2019
22
Outcome of Thrombotic Thrombocytopenic Purpura Patients: Single Center Experience ( 30905143 )
2019
23
Rituximab-induced acute and delayed serum sickness in thrombotic thrombocytopenic purpura: the role of anti-rituximab antibodies. ( 29527657 )
2019
24
Acquired thrombotic thrombocytopenic purpura with isolated CFHR3/1 deletion-rapid remission following complement blockade. ( 29728803 )
2018
25
Insights into 3D Structure of ADAMTS13: A Stepping Stone towards Novel Therapeutic Treatment of Thrombotic Thrombocytopenic Purpura. ( 29304523 )
2018
26
Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report. ( 29357939 )
2018
27
The clinical features of cardiac involvement in patients with severe thrombotic thrombocytopenic purpura. ( 29752524 )
2018
28
Pediatric thrombotic thrombocytopenic purpura. ( 29889319 )
2018
29
Child-onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13. ( 29763513 )
2018
30
Large vessel stroke as initial presentation of thrombotic thrombocytopenic purpura. ( 29437728 )
2018
31
ADAMTS13 Testing Methodologies and Thrombotic Thrombocytopenic Purpura (TTP): Conflicting Results Can Pose a Clinical Dilemma. ( 29970443 )
2018
32
Post-Partum Thrombotic Thrombocytopenic Purpura (TTP) in a Patient with known Idiopathic (Immune) Thrombocytopenic Purpura: a case report and review of the literature. ( 29855343 )
2018
33
An open conformation of ADAMTS-13 is a hallmark of acute acquired thrombotic thrombocytopenic purpura. ( 29222940 )
2018
34
Concurrent Presentation of Thrombotic Thrombocytopenic Purpura and Membranous Nephropathy. ( 29725652 )
2018
35
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. ( 29356300 )
2018
36
Ticagrelor-induced thrombotic thrombocytopenic purpura: A case report and review of the literature. ( 29952973 )
2018
37
Myocardial Infarction as an Early Presentation in Thrombotic Thrombocytopenic Purpura: A Rare Case Series. ( 29761111 )
2018
38
Changes in plasma von Willebrand factor and von Willebrand factor cleaving protease in thrombotic thrombocytopenic purpura: A case report. ( 29250148 )
2018
39
Intravenous immunoglobulin as salvage therapy for refractory thrombotic thrombocytopenic purpura. ( 29247542 )
2018
40
The Diagnostic Challenge of Acquired Thrombotic Thrombocytopenic Purpura in Children: Case Report and Review of the Literature. ( 29659973 )
2018
41
Neuro-Behcet's disease in a patient with thrombotic thrombocytopenic purpura. ( 29444324 )
2018
42
Does this patient with thrombotic thrombocytopenic purpura have a cardiac involvement? ( 29868970 )
2018
43
No major differences in outcomes between the initial and relapse episodes in patients with thrombotic thrombocytopenic purpura: The experience from the Ohio State University Registry. ( 29226481 )
2018
44
Schistocytosis occurs in severely anemic B12-deficient patients and does not imply thrombotic thrombocytopenic purpura. ( 29790646 )
2018
45
Relapsed/refractory thrombotic thrombocytopenic purpura treated with N-acetylcysteine: a case report. ( 29739267 )
2018
46
Nurses best practices for the management of thrombotic thrombocytopenic purpura. ( 29960714 )
2018
47
Dissecting the pathophysiology of immune thrombotic thrombocytopenic purpura: interplay between genes and environmental triggers. ( 29674502 )
2018
48
Characterization of efficacy and safety of pathogen inactivated and quarantine plasma in routine use for treatment of acquired immune thrombotic thrombocytopenic purpura. ( 29786866 )
2018
49
The utility of a fast turnaround ADAMTS13 activity in the diagnosis and exclusion of thrombotic thrombocytopenic purpura. ( 29687882 )
2018
50
Vincristine as an Adjunct to Therapeutic Plasma Exchange for Thrombotic Thrombocytopenic Purpura: A Single Institution Experience. ( 29966997 )
2018
Sources

Variations for Thrombotic Thrombocytopenic Purpura

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ClinVar genetic disease variations for Thrombotic Thrombocytopenic Purpura:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS13 NM_139025.4(ADAMTS13): c.3541G> A (p.Gly1181Arg) single nucleotide variant Pathogenic rs192619276 GRCh37 Chromosome 9, 136320698: 136320698
2 ADAMTS13 NM_139025.4(ADAMTS13): c.3541G> A (p.Gly1181Arg) single nucleotide variant Pathogenic rs192619276 GRCh38 Chromosome 9, 133455576: 133455576
3 ADAMTS13 NM_139025.4(ADAMTS13): c.581G> T (p.Gly194Val) single nucleotide variant Pathogenic rs1554785242 GRCh37 Chromosome 9, 136291360: 136291360
4 ADAMTS13 NM_139025.4(ADAMTS13): c.581G> T (p.Gly194Val) single nucleotide variant Pathogenic rs1554785242 GRCh38 Chromosome 9, 133426240: 133426240
5 ADAMTS13 NM_139025.4(ADAMTS13): c.2209T> C (p.Cys737Arg) single nucleotide variant Pathogenic rs1554791280 GRCh38 Chromosome 9, 133442718: 133442718
6 ADAMTS13 NM_139025.4(ADAMTS13): c.2209T> C (p.Cys737Arg) single nucleotide variant Pathogenic rs1554791280 GRCh37 Chromosome 9, 136307839: 136307839
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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:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 12.58 APOH F3 SELE SELP THBD THBS1
2
O-linked glycosylation 67
Show member pathways
 11.92 ADAMTS13 ADAMTSL1 THBS1
3
Cell surface interactions at the vascular wall 67
Show member pathways
 11.89 SELE SELP THBD
4
Formation of Fibrin Clot (Clotting Cascade) 67
Show member pathways
 11.81 F3 THBD VWF
5
Diseases of glycosylation 67
Show member pathways
 11.74 ADAMTS13 ADAMTSL1 THBS1
6
AGE-RAGE signaling pathway in diabetic complications 38
11.54 F3 SELE THBD
7
Angiogenesis (CST) 4
11.45 F3 THBS1 VWF
8
O-glycosylation of TSR domain-containing proteins 67
Show member pathways
 11.31 ADAMTS13 ADAMTSL1 THBS1
9
Complement and coagulation cascades 38 1
11.16 CD46 CFH F3 THBD VWF
10
Malaria 38
11.02 SELE SELP THBS1
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 region GO:0005576 9.87 ADAMTS13 ADAMTSL1 APOH CFH F3 THBS1
2 extracellular space GO:0005615 9.56 ADAMTS13 APOH CFH F3 SELE SELP
3 collagen-containing extracellular matrix GO:0062023 9.46 APOH F3 THBS1 VWF
4 platelet alpha granule GO:0031091 9.26 THBS1 VWF
5 cell surface GO:0009986 9.1 ADAMTS13 APOH CD46 F3 THBD THBS1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 SELE SELP THBS1 VWF
2 response to lipopolysaccharide GO:0032496 9.67 SELE SELP THBD
3 blood coagulation GO:0007596 9.56 ADAMTS13 F3 THBD VWF
4 negative regulation of endothelial cell proliferation GO:0001937 9.54 APOH THBS1
5 response to tumor necrosis factor GO:0034612 9.52 ADAMTS13 SELE
6 leukocyte cell-cell adhesion GO:0007159 9.51 SELE SELP
7 negative regulation of endothelial cell migration GO:0010596 9.48 APOH THBS1
8 leukocyte tethering or rolling GO:0050901 9.46 SELE SELP
9 platelet degranulation GO:0002576 9.46 APOH SELP THBS1 VWF
10 blood coagulation, intrinsic pathway GO:0007597 9.43 APOH VWF
11 negative regulation of blood coagulation GO:0030195 9.4 APOH THBD
12 positive regulation of blood coagulation GO:0030194 9.37 APOH THBS1
13 positive regulation of transforming growth factor beta production GO:0071636 9.32 CD46 THBS1
14 negative regulation of fibrinolysis GO:0051918 9.13 APOH THBD THBS1
15 hemostasis GO:0007599 8.92 ADAMTS13 F3 THBD VWF

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.43 ADAMTS13 THBS1 VWF
2 oligosaccharide binding GO:0070492 9.16 SELE SELP
3 sialic acid binding GO:0033691 8.96 SELE SELP
4 heparin binding GO:0008201 8.92 APOH CFH SELP THBS1
Sources

Sources for Thrombotic Thrombocytopenic Purpura

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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