Thrombotic Thrombocytopenic Purpura disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

TTP MCID: THR005 MIFTS: 60	Thrombotic Thrombocytopenic Purpura (TTP) Categories: Blood diseases, Genetic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Blood diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the musculoskeletal system and connective tissue

Systemic connective tissue disorders

Other necrotizing vasculopathies

Thrombotic microangiopathy

ICD11: ³³

Diseases of the blood or blood-forming organs

Coagulation defects, purpura or other haemorrhagic or related conditions

Thrombocytopenia

Acquired thrombocytopenia

Thrombotic thrombocytopenic purpura

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

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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...

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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:

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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

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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

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Bortezomib

Approved, Investigational

Phase 4

179324-69-7

387447 93860

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

4897

Hormones

Phase 4

Methylprednisolone Acetate

Phase 4

584547

Miconazole

Approved, Investigational, Vet_approved

Phase 3

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 3

23593-75-1

2812

Magnesium sulfate

Approved, Investigational, Vet_approved

Phase 3

7487-88-9

Acetylsalicylic acid

Approved, Vet_approved

Phase 2, Phase 3

50-78-2

2244

Prednisone

Approved, Vet_approved

Phase 3

53-03-2

5865

Rituximab

Approved

Phase 3

174722-31-7

Anti-Infective Agents

Phase 3

Calcineurin Inhibitors

Phase 3

Cyclosporins

Phase 3

Antifungal Agents

Phase 3

Dermatologic Agents

Phase 3

Neuroprotective Agents

Phase 2, Phase 3

Antiemetics

Phase 2, Phase 3

Gastrointestinal Agents

Phase 2, Phase 3

Protective Agents

Phase 2, Phase 3

Antineoplastic Agents, Hormonal

Phase 3

Hormone Antagonists

Phase 3

glucocorticoids

Phase 3

Immunosuppressive Agents

Phase 3

Pharmaceutical Solutions

Phase 3

Immunoglobulins

Phase 3

Antibodies

Phase 3

Anti-Arrhythmia Agents

Phase 3

Calcium, Dietary

Phase 3

Anticonvulsants

Phase 3

Anesthetics

Phase 3

calcium channel blockers

Phase 3

Tocolytic Agents

Phase 3

Anti-Inflammatory Agents

Phase 2, Phase 3

Analgesics

Phase 2, Phase 3

Fibrinolytic Agents

Phase 2, Phase 3

Antipyretics

Phase 2, Phase 3

Cyclooxygenase Inhibitors

Phase 2, Phase 3

Platelet Aggregation Inhibitors

Phase 2, Phase 3

Anti-Inflammatory Agents, Non-Steroidal

Phase 2, Phase 3

Analgesics, Non-Narcotic

Phase 2, Phase 3

Antirheumatic Agents

Phase 3

Immunologic Factors

Phase 3

Antineoplastic Agents, Immunological

Phase 3

Calcium

Nutraceutical

Phase 3

7440-70-2

271

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

Sources

Genetic Tests for Thrombotic Thrombocytopenic Purpura

Genetic tests related to Thrombotic Thrombocytopenic Purpura:

#	Genetic test	Affiliating Genes
1	Thrombotic Thrombocytopenic Purpura ²⁸

Sources

Anatomical Context for Thrombotic Thrombocytopenic Purpura

Organs/tissues related to Thrombotic Thrombocytopenic Purpura:

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

Sources

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	Downes K...Freson K	31064749	2019
2	Acquired, noncongenital thrombotic thrombocytopenic purpura in children and adolescents: clinical management and the use of ADAMTS 13 assays. ⁵³ ⁶²	McDonald V...Scully M	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	Jin SY...Zheng XL	20075158	2010
4	Von Willebrand factor, ADAMTS-13, and thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Zhou Z...Dong JF	20391298	2010
5	A 9-month-old infant with acquired idiopathic thrombotic thrombocytopenic purpura caused by inhibitory IgG-autoantibody to ADAMTS13. ⁵³ ⁶²	Sato A...Imaizumi M	20121555	2010
6	ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Lotta LA...Peyvandi F	19847791	2010
7	Demographic and ADAMTS13 biomarker data as predictors of early recurrences of idiopathic thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Cataland SR...Wu HM	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	Feys HB...Vanhoorelbeke K	19786614	2009
9	Adamalysins in biology and disease. ⁵³ ⁶²	van Goor H...Holgate ST	19662664	2009
10	Reduced ADAMTS13 activity in delayed cerebral ischemia after aneurysmal subarachnoid hemorrhage. ⁵³ ⁶²	Vergouwen MD...Meijers JC	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	Udvardy ML...Harsfalvi J	19652894	2009
12	Heterogeneous pathogenic processes of thrombotic microangiopathies in patients with connective tissue diseases. ⁵³ ⁶²	Matsuyama T...Fujimura Y	19652889	2009
13	Characterization of conformation-sensitive antibodies to ADAMTS13, the von Willebrand cleavage protease. ⁵³ ⁶²	Sauna ZE...Kimchi-Sarfaty C	19654870	2009
14	Detection of intracellular ADAMTS13, a secreted zinc-metalloprotease, via flow cytometry. ⁵³ ⁶²	Geetha S...Kimchi-Sarfaty C	19526483	2009
15	Leukocyte proteases cleave von Willebrand factor at or near the ADAMTS13 cleavage site. ⁵³ ⁶²	Raife TJ...Zheng XL	19541819	2009
16	The active conformation of von Willebrand factor in patients with thrombotic thrombocytopenic purpura in remission. ⁵³ ⁶²	Groot E...Lenting PJ	19548905	2009
17	VH1-69 germline encoded antibodies directed towards ADAMTS13 in patients with acquired thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Pos W...Voorberg J	19054323	2009
18	Thrombotic microangiopathies: towards a pathophysiology-based classification. ⁵³ ⁶²	Coppo P...Veyradier A	19275576	2009
19	Mechanisms of microvascular thrombosis in thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Tsai HM	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	Palla R...Peyvandi F	19116307	2009
21	ADAMTS13 binds to CD36: a potential mechanism for platelet and endothelial localization of ADAMTS13. ⁵³ ⁶²	Davis AK...Dzik WH	19389207	2009
22	Correction of ADAMTS13 deficiency by in utero gene transfer of lentiviral vector encoding ADAMTS13 genes. ⁵³ ⁶²	Niiya M...Zheng XL	18957966	2009
23	Effect of blood group on idiopathic thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Zuberi L...Kuriakose P	19591220	2009
24	Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children. ⁵³ ⁶²	Loirat C...Veyradier A	18574602	2009
25	Effect of prophylactic cyclosporine therapy on ADAMTS13 biomarkers in patients with idiopathic thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Cataland SR...Wu HM	18821711	2008
26	Thrombotic thrombocytopenic purpura associated with severe acute pancreatitis in a context of decreased ADAMTS13 activity: a case report. ⁵³ ⁶²	Piton G...Capellier G	18989146	2008
27	[Genetic polymorphism of von Willebrand factor (VWF)-cleaving protease, ADAMTS13]. ⁵³ ⁶²	Kokame K	19069166	2008
28	Von Willebrand factor: another janus-faced hemostasis protein. ⁵³ ⁶²	Franchini M...Mannucci PM	19085767	2008
29	Rapid quantitative assay of ADAMTS13 activity on an automated coagulation analyzer: clinical applications and comparison with immunoblot method. ⁵³ ⁶²	Knovich MA...Owen J	18528825	2008
30	Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Sadler JE	18574040	2008
31	The VWF/ADAMTS13 axis in the antiphospholipid syndrome: ADAMTS13 antibodies and ADAMTS13 dysfunction. ⁵³ ⁶²	Austin SK...Mackie IJ	18341632	2008
32	Association between thrombotic microangiopathy and reduced ADAMTS13 activity in malignant hypertension. ⁵³ ⁶²	van den Born BJ...van Montfrans GA	18332284	2008
33	[Hemolytic uremic syndrome and thrombotic thrombocytopenic purpura. Current perspectives on EHEC, complement mutations and ADAMTS13]. ⁵³ ⁶²	Karpman D	18561752	2008
34	Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Camilleri RS...Machin SJ	18031293	2008
35	ADAMTS13 and anti-ADAMTS13 antibodies as markers for recurrence of acquired thrombotic thrombocytopenic purpura during remission. ⁵³ ⁶²	Peyvandi F...Mannucci PM	18223285	2008
36	Pathogenesis of thrombotic microangiopathies. ⁵³ ⁶²	Zheng XL...Sadler JE	18215115	2008
37	ADAMTS13 related markers and von Willebrand factor in plasma from patients with thrombotic microangiopathy (TMA). ⁵³ ⁶²	Kobayashi T...Nobori T	17900666	2008
38	Linear relationship between ADAMTS13 activity and platelet dynamics even before severe thrombocytopenia. ⁵³ ⁶²	Song J...Choi JR	18988930	2008
39	Thrombotic microangiopathy in a 17-year-old patient: TTP, HUS or a bit of both? ⁵³ ⁶²	Gerth J...Wolf G	18184524	2007
40	Evidence based therapeutic apheresis in autoimmune and other hemolytic anemias. ⁵³ ⁶²	McLeod BC	17898570	2007
41	Cyclosporin and plasma exchange in thrombotic thrombocytopenic purpura: long-term follow-up with serial analysis of ADAMTS13 activity. ⁵³ ⁶²	Cataland SR...Wu HM	17910638	2007
42	ADAMTS-13, von Willebrand factor and related parameters in severe sepsis and septic shock. ⁵³ ⁶²	Kremer Hovinga JA...Lammle B	17764538	2007
43	von Willebrand factor, von Willebrand factor-cleaving protease, and shear stress. ⁵³ ⁶²	Perutelli P...Molinari AC	17979694	2007
44	Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Manea M...Karpman D	17627784	2007
45	Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). ⁵³ ⁶²	Hommais A...Ribba AS	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	Zhou W...Tsai HM	17426255	2007
47	Coagulation parameters of thawed fresh-frozen plasma during storage at different temperatures. ⁵³ ⁶²	Lamboo M...de Vries RR	17561859	2007
48	ADAMTS13 assays and ADAMTS13-deficient mice. ⁵³ ⁶²	Miyata T...Akiyama M	17414219	2007
49	Targeting the inhibitor of ADAMTS13 in thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Cataland SR...Wu HM	17309338	2007
50	ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura. ⁵³ ⁶²	Manea M...Karpman D	17187257	2007

Sources

Genes for Thrombotic Thrombocytopenic Purpura

Genes related to Thrombotic Thrombocytopenic Purpura (1 elite genes):

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	465.21	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	31064749 17898570 20121555 (more) 17910638 15232311 14727262 19652889 16430944 19674080 16627268 18821711 18332284 10961577 18223285 15561695 17414219 19116307 16879212 17367414 19847791 12855569 16923518 12614216 18528825 18031293 17627784 16934083 16102032 15126318 15199746 20391298 15890682 14982879 15045144 20075158 16796708 15711742 15521921 15009458 12615692 17849048 16449289 15367436 14512317 12438949 11557746 17900666 17187257 16797677 16898953 16093784 16575683 14962303 12923683 19054323 20436664 16411392 11563771 12434890 12590947 12714826 12871558 12775718 12869506 14694551 15030284 19591220 19548905 19389207 18989146 18782260 18561752 18215115 17058049 16831327 17309338 17207240 16635066 16113782 15524133 14982878 14631548 19526483 15806136 12969811 12858075 12172456 18184524 17603247 17426255 17164349 17319494 16676082 15827129 15284596 15029276 19584892 19190805 18988930 18574040 18341632 14755376 12935979 20083997 19423151 18957966 19180123 18574602
2	VWF	Von Willebrand Factor	Protein Coding	29.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8438900 19190805 9535389 (more) 10227776 11450586 11535494 12590947 15043592 16102036 16855353 17060968 17236283 18332284 19389207 19548905 19654870 19786614 2191307 19584892 9704664 12393397 19652894 1803615 9828023 10361861 10381511 16113782 10595623 8767102 1942536 2072761 20075158 16796708 12393505 9531594 9129011 14727256 12395148 10397728 10097823 9423794 8292728 2072762 19069166 17979694 19275576 17764538 17364690 16959682 16689741 16388413 15662617 15045144 14727257 12446430 12393399 11818464 11332762 8826906 19541819 16568319 15801961 10676770 8948657 20391298 19662664 19085767 19423151 7823715 10961577 11675345 12182911 12601725 14995983 16104533 16014562 16388412
3	THBS1	Thrombospondin 1	Protein Coding	23.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17367414 16204318 16831327 (more) 15890682 16931205 16898953 15136581 16405838
4	THBD	Thrombomodulin	Protein Coding	23.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8381883 7737745 18625649 (more) 1659186 1311143 8948657 11052232 15952301 19767779
5	CD46	CD46 Molecule	Protein Coding	22.7	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19459807 16762990 18557729
6	F3	Coagulation Factor III, Tissue Factor	Protein Coding	20.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10410587 7740478 7647217
7	ADAMTSL1	ADAMTS Like 1	Protein Coding	20.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19786614 18828196 18957966
8	CFH	Complement Factor H	Protein Coding	16.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12020532 1751375 10544747 (more) 14615110 15590760 16760911 17973958 18557729 19351878 15816899 14583443
9	HP	Haptoglobin	Protein Coding	15.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15952301
10	CFI	Complement Factor I	Protein Coding	14.27	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	SERPINC1	Serpin Family C Member 1	Protein Coding	14.21	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	APOH	Apolipoprotein H	Protein Coding	12.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16765713 2116723 1795331 (more) 11224691 9890320 10069206
13	CD36	CD36 Molecule	Protein Coding	12.37	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	SELP	Selectin P	Protein Coding	11.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7692937
15	CFHR2	Complement Factor H Related 2	Protein Coding	10.47	DISEASES inferred ¹⁴ ¹⁴
16	SERPINE1	Serpin Family E Member 1	Protein Coding	10.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11441985
17	HBB	Hemoglobin Subunit Beta	Protein Coding	10.25	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	PPIC	Peptidylprolyl Isomerase C	Protein Coding	10.22	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	F8	Coagulation Factor VIII	Protein Coding	9.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17561859
20	SELE	Selectin E	Protein Coding	9.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11436109
21	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	7.42	GeneCards inferred via : Publications (show sections)
22	DGKE	Diacylglycerol Kinase Epsilon	Protein Coding	7.38	DISEASES inferred ¹⁴
23	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	7.08	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Thrombotic Thrombocytopenic Purpura

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

Sources

Pathways for Thrombotic Thrombocytopenic Purpura

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+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.8	VWF THBS1 THBD SERPINE1 SERPINC1 SELP
2	Complement cascade ⁶⁶ Show member pathways Activation of C3 and C5 ⁶⁶ Classical Complement Pathway ⁶⁴ Complement Pathway ⁶⁴ Complement system ⁷⁴ Complement system in neuronal development and plasticity ⁷⁴ Lectin Induced Complement Pathway ⁶⁴ Regulation of Complement cascade ⁶⁶	12.26	THBS1 SELP SELE CFI CFHR2 CFH
3	Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) ⁶⁶ Show member pathways Blood clotting cascade ⁷⁴ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Complement and coagulation cascades ⁷⁴ Defective F8 binding to von Willebrand factor ⁶⁶ Defective F8 cleavage by thrombin ⁶⁶ Defective F8 sulfation at Y1699 ⁶⁶ Defective F9 activation ⁶⁶ Defective F9 secretion ⁶⁶ Defective factor IX causes hemophilia B ⁶⁶ Defective factor VIII causes hemophilia A ⁶⁶ Defective factor XII causes hereditary angioedema ⁶⁶ Defective gamma-carboxylation of F9 ⁶⁶ Diseases of hemostasis ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶ Thrombin/protease-activated receptor (PAR) pathway ⁶¹	11.74	VWF THBD SERPINE1 SERPINC1 F8 F3
4	Immune response Lectin induced complement pathway ²² Show member pathways Immune response Alternative complement pathway ²² Immune response Classical complement pathway ²² Terminal pathway of complement ⁶⁶	11.58	CFI CFH CD46
5	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.45	HP HBB CD36
6	Angiogenesis (CST) ³	11.38	VWF THBS1 F3

Sources

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