TTP
MCID: THR124
MIFTS: 53

Thrombotic Thrombocytopenic Purpura, Hereditary (TTP)

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thrombotic Thrombocytopenic Purpura, Hereditary

MalaCards integrated aliases for Thrombotic Thrombocytopenic Purpura, Hereditary:

Name: Thrombotic Thrombocytopenic Purpura, Hereditary 57 73
Upshaw-Schulman Syndrome 57 20 58 73 29 6
Microangiopathic Hemolytic Anemia 57 20 73 29
Thrombotic Thrombocytopenic Purpura, Familial 57 20 13
Thrombotic Microangiopathy, Familial 57 74 20
Schulman-Upshaw Syndrome 57 20 73
Ttp 57 58 73
Uss 57 20 73
Thrombotic Thrombocytopenic Purpura, Congenital 57 20
Congenital Thrombotic Thrombocytopenic Purpura 20 58
Microangiopathic Hemolytic Anemia, Congenital 57 20
Upshaw Factor, Deficiency of 57 20
Thrombotic Thrombocytopenic Purpura, Hereditary, Infantile- or Adult-Onset 57
Thrombocytopenic Purpura, Thrombotic, Congenital 39
Microangiopathic Hemolytic Anemia Congenital 73
Thrombotic Thrombocytopenic Purpura Familial 73
Thrombotic Thrombocytopenic Purpura 58
Thrombotic Microangiopathy Familial 73
Anemia Hemolytic Microangiopathic 54
Congenital Adamts-13 Deficiency 58
Upshaw-Schulman Syndrome; Uss 57
Deficiency of Upshaw Factor 73
Upshaw-Schülman Syndrome 74
Moschkowitz Disease 73
Moschcowitz Disease 58
Ttp, Congenital 20
Congenital Ttp 58
Familial Ttp 58

Characteristics:

Orphanet epidemiological data:

58
thrombotic thrombocytopenic purpura
Inheritance: Autosomal recessive,Multigenic/multifactorial; Prevalence: 1-9/1000000 (United States),1-5/10000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;
congenital thrombotic thrombocytopenic purpura
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection
familial form - constitutional deficiency of vwf-cleaving protease
acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease
in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, )


HPO:

31
thrombotic thrombocytopenic purpura, hereditary:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare renal diseases
Rare haematological diseases


External Ids:

OMIM® 57 274150
MeSH 44 D011697
MESH via Orphanet 45 D011697
ICD10 via Orphanet 33 M31.1
UMLS via Orphanet 72 C0034155 C1268935

Summaries for Thrombotic Thrombocytopenic Purpura, Hereditary

GARD : 20 Congenital thrombotic thrombocytopenic purpura (congenital TTP) is a blood disorder in which blood clots form in the small blood vessels throughout the body. Signs and symptoms typically develop in infancy or early childhood, but in some cases they do not develop until adulthood, particularly during pregnancy in women or after an infection or vaccination. Signs and symptoms generally are due to hemolytic anemia, low platelets (thrombocytopenia), and neurologic dysfunction. Symptoms of anemia can include fatigue, paleness, jaundice, shortness of breath, and a rapid heart rate. Widespread thrombosis (abnormal clotting) can lead to problems with the nervous system (such as personality changes, headaches, confusion, and seizures), abnormal kidney function, heart problems, and gastrointestinal problems. Signs and symptoms often recur on a regular basis but the severity and frequency varies. Congenital TTP is caused by changes (mutations) in the ADAMTS13 gene and inheritance is autosomal recessive. Treatment may involve plasma exchange (also called plasmapheresis) for acute episodes, and prophylactic plasma therapy for those with chronic disease. Women with congenital TTP should receive pregnancy counseling in order to prepare for management during pregnancy. Regular plasma infusions are needed during pregnancy, in addition to close monitoring. Most people respond well to treatment, which can prevent long-term organ complications due to relapses. However, life expectancy largely depends on severity and whether other underlying conditions are present. Without treatment, congenital TTP is fatal.

MalaCards based summary : Thrombotic Thrombocytopenic Purpura, Hereditary, also known as upshaw-schulman syndrome, is related to thrombotic thrombocytopenic purpura and thrombotic microangiopathy, and has symptoms including tremor and fever. An important gene associated with Thrombotic Thrombocytopenic Purpura, Hereditary is ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13). The drugs Magnesium Sulfate and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include heart, bone marrow and bone, and related phenotypes are respiratory distress and proteinuria

OMIM® : 57 Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome (USS), is a rare autosomal recessive thrombotic microangiopathy (TMA). Clinically, acute phases of TTP are defined by microangiopathic mechanical hemolytic anemia, severe thrombocytopenia, and visceral ischemia. Hereditary TTP makes up 5% of TTP cases and is caused mostly by biallelic mutation in the ADAMTS13 gene, or in very rare cases, by monoallelic ADAMTS13 mutation associated with a cluster of single-nucleotide polymorphisms (SNPs); most cases of all TTP (95%) are acquired via an autoimmune mechanism (see 188030). Hereditary TTP is more frequent among child-onset TTP compared with adult-onset TTP, and its clinical presentation is significantly different as a function of its age of onset. Child-onset TTP usually starts in the neonatal period with hematological features and severe jaundice. In contrast, almost all cases of adult-onset hereditary TTP are unmasked during the first pregnancy of a woman whose disease was silent during childhood (summary by Joly et al., 2018). (274150) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Thrombotic thrombocytopenic purpura, hereditary: An autosomal recessive hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever.

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

Related Diseases for Thrombotic Thrombocytopenic Purpura, Hereditary

Diseases in the Thrombotic Thrombocytopenic Purpura family:

Thrombotic Thrombocytopenic Purpura, Hereditary Thrombotic Thrombocytopenic Purpura, Acquired

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

(show top 50) (show all 611)
# Related Disease Score Top Affiliating Genes
1 thrombotic thrombocytopenic purpura 31.6 HP CFH ADAMTS13
2 thrombotic microangiopathy 30.7 HP ADAMTS13
3 cerebrovascular disease 30.1 HP ADAMTS13
4 hemolytic-uremic syndrome 30.1 HP CFH ADAMTS13
5 thrombocytopenia 30.1 HP CFH ADAMTS13
6 hemolytic anemia 30.1 HP CFH ADAMTS13
7 liver cirrhosis 29.9 HP ADAMTS13
8 myocardial infarction 29.8 HP CFH ADAMTS13
9 antiphospholipid syndrome 29.7 CFH ADAMTS13
10 evans' syndrome 29.7 HP ADAMTS13
11 hemorrhagic disease 29.5 HP CFH ADAMTS13
12 anuria 29.5 HP ADAMTS13
13 bilirubin metabolic disorder 29.4 HP ADAMTS13
14 acute kidney failure 29.3 HP CFH ADAMTS13
15 chronic kidney disease 29.3 HP CFH
16 blood coagulation disease 29.3 HP CFH ADAMTS13
17 catastrophic antiphospholipid syndrome 29.2 CFH ADAMTS13
18 deficiency anemia 29.2 HP ADAMTS13
19 hemolytic uremic syndrome, atypical 1 29.1 HP CFH ADAMTS13
20 hellp syndrome 29.1 HP CFH ADAMTS13
21 malaria 28.6 HP CFH ADAMTS13
22 thrombotic thrombocytopenic purpura, acquired 11.5
23 adult-onset still's disease 11.4
24 nephrotic syndrome, type 7 11.4
25 hemolytic uremic syndrome, atypical 3 11.2
26 hemolytic uremic syndrome, atypical 4 11.2
27 hemolytic uremic syndrome, atypical 5 11.2
28 hemolytic uremic syndrome, atypical 6 11.2
29 immune-mediated thrombotic thrombocytopenic purpura 11.0
30 purpura 11.0
31 gastric adenocarcinoma 10.6
32 cardiac arrest 10.6
33 kidney disease 10.6
34 endocarditis 10.6
35 mixed connective tissue disease 10.5
36 acquired immunodeficiency syndrome 10.5
37 pernicious anemia 10.5
38 immune deficiency disease 10.5
39 vascular disease 10.5
40 von willebrand's disease 10.5
41 status epilepticus 10.5
42 cardiogenic shock 10.5
43 hemangioma 10.5
44 polymyositis 10.4
45 graves' disease 10.4
46 hemophilia 10.4
47 pulmonary hypertension 10.4
48 adenocarcinoma 10.4
49 signet ring cell adenocarcinoma 10.4
50 neonatal jaundice 10.4

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



Diseases related to Thrombotic Thrombocytopenic Purpura, Hereditary

Symptoms & Phenotypes for Thrombotic Thrombocytopenic Purpura, Hereditary

Human phenotypes related to Thrombotic Thrombocytopenic Purpura, Hereditary:

31 58 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 31 occasional (7.5%) HP:0002098
2 proteinuria 58 31 Occasional (29-5%) HP:0000093
3 fever 58 31 Occasional (29-5%) HP:0001945
4 thrombocytopenia 58 31 Very frequent (99-80%) HP:0001873
5 reticulocytosis 58 31 Very frequent (99-80%) HP:0001923
6 confusion 58 31 Frequent (79-30%) HP:0001289
7 microangiopathic hemolytic anemia 58 31 Very frequent (99-80%) HP:0001937
8 seizures 58 Frequent (79-30%)
9 tremor 31 HP:0001337
10 renal insufficiency 58 Occasional (29-5%)
11 myocardial infarction 58 Occasional (29-5%)
12 jaundice 31 HP:0000952
13 hematuria 58 Occasional (29-5%)
14 abdominal pain 58 Frequent (79-30%)
15 dyspnea 58 Very frequent (99-80%)
16 arrhythmia 58 Occasional (29-5%)
17 increased serum lactate 31 HP:0002151
18 stroke 58 Frequent (79-30%)
19 headache 58 Frequent (79-30%)
20 abnormality of the nervous system 58 Occasional (29-5%)
21 prolonged neonatal jaundice 31 HP:0006579
22 coma 58 Frequent (79-30%)
23 generalized muscle weakness 58 Very frequent (99-80%)
24 diarrhea 58 Frequent (79-30%)
25 acute kidney injury 58 Very rare (<4-1%)
26 microscopic hematuria 31 HP:0002907
27 elevated serum creatinine 31 HP:0003259
28 abnormal lactate dehydrogenase activity 58 Frequent (79-30%)
29 decreased serum creatinine 58 Very rare (<4-1%)
30 increased blood urea nitrogen 31 HP:0003138
31 schistocytosis 31 HP:0001981
32 hemolytic-uremic syndrome 31 HP:0005575

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
tremor
confusion
fluctuating neurologic signs
focal neurologic signs
disturbances of consciousness

Metabolic Features:
fever

Abdomen Liver:
jaundice, neonatal

Genitourinary Kidneys:
renal dysfunction

Laboratory Abnormalities:
proteinuria
microscopic hematuria
increased blood urea nitrogen (bun)
decreased hemoglobin
increased creatinine
more
Hematology:
thrombocytopenia
reticulocytosis
schistocytes
microangiopathic hemolytic anemia (coomb negative)
thrombotic microangiopathy (hyaline thrombi of platelets and fibrin in terminal arterioles and capillaries)

Skin Nails Hair Skin:
jaundice, neonatal

Respiratory Lung:
acute respiratory distress syndrome (uncommon)

Clinical features from OMIM®:

274150 (Updated 05-Mar-2021)

UMLS symptoms related to Thrombotic Thrombocytopenic Purpura, Hereditary:


tremor, fever

Drugs & Therapeutics for Thrombotic Thrombocytopenic Purpura, Hereditary

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
2
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
4 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
5
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
8
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
9
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
10
rituximab Approved Phase 3 174722-31-7 10201696
11
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
12 Anticonvulsants Phase 3
13 Anesthetics Phase 3
14 Tocolytic Agents Phase 3
15 Calcium, Dietary Phase 3
16 Analgesics Phase 3
17 calcium channel blockers Phase 3
18 Anti-Arrhythmia Agents Phase 3
19 Antifungal Agents Phase 3
20 Anti-Infective Agents Phase 3
21 Cyclosporins Phase 3
22 Dermatologic Agents Phase 3
23 Calcineurin Inhibitors Phase 3
24 Anti-Inflammatory Agents Phase 2, Phase 3
25 Immunosuppressive Agents Phase 2, Phase 3
26 glucocorticoids Phase 2, Phase 3
27 Antineoplastic Agents, Hormonal Phase 2, Phase 3
28 Pharmaceutical Solutions Phase 2, Phase 3
29 Protective Agents Phase 2, Phase 3
30 Gastrointestinal Agents Phase 2, Phase 3
31 Neuroprotective Agents Phase 2, Phase 3
32 Methylprednisolone Acetate Phase 2, Phase 3
33 Antiemetics Phase 2, Phase 3
34 Immunologic Factors Phase 3
35 Antineoplastic Agents, Immunological Phase 3
36 Antirheumatic Agents Phase 3
37
Calcium Nutraceutical Phase 3 7440-70-2 271
38
Acetaminophen Approved Phase 2 103-90-2 1983
39
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
40
Promethazine Approved, Investigational Phase 2 60-87-7 4927
41
Danazol Approved Phase 2 17230-88-5 28417
42
Fibrinolysin Investigational Phase 2 9004-09-5
43 Fibrinolytic Agents Phase 2
44 Hormone Antagonists Phase 2
45 Hormones Phase 2
46 Estrogens Phase 2
47 Estrogen Antagonists Phase 2
48 Estrogen Receptor Antagonists Phase 2
49 Immunoglobulins Phase 2
50 Antibodies Phase 2

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 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)
2 Interest of Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care: Multicentric Randomized Controlled Trial Unknown status NCT03237819 Phase 3 Sulfate, Magnesium;Placebo - Concentrate
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 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
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 A Phase 3, Prospective, Randomized, Controlled, Open-Label, Multicenter, 2-Period Crossover Study With a Single Arm Continuation Evaluating the Safety and Efficacy of BAX 930 (rADAMTS13) in the Prophylactic and On-demand Treatment of Participants With Severe Congenital Thrombotic Thrombocytopenic Purpura (cTTP) (Upshaw-Schulman Syndrome) Recruiting NCT03393975 Phase 3
7 An Open-label Multicenter Trial to Study the Efficacy and Safety of Caplacizumab in Japanese Patients With Acquired Thrombotic Thrombocytopenic Purpura Recruiting NCT04074187 Phase 2, Phase 3 Caplacizumab (ALX-0081);Plasma exchange (PE);Corticosteroid treatment (Methylprednisolone or prednisolone);Immunosuppressive treatment (eg, rituximab)
8 A Phase 3b, Prospective, Open-label, Multicenter, Single Treatment Arm, Continuation Study of the Safety and Efficacy of TAK-755 (rADAMTS-13, 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) Not yet recruiting NCT04683003 Phase 3
9 A Blinded Non-inferiority Study to Compare Uniplas With Cryosupernatant Plasma in Thrombotic Thrombocytopenic Purpura (TTP) Terminated NCT00411801 Phase 3
10 STAR - Study of TTP and Rituximab, A Randomized Clinical Trial Terminated NCT00799773 Phase 3 Rituximab;Corticosteroids
11 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
12 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
13 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
14 Adjuvant Low Dose Rituximab for Acquired TTP With Severe ADAMTS13 Deficiency Completed NCT01554514 Phase 2
15 Association of Rituximab to Plasma Exchange in Adult Acquired Idiopathic Thrombotic Thrombocytopenic Purpura Completed NCT00907751 Phase 2 rituximab
16 A Phase 2, Multicenter, Randomized, Placebo-Controlled, Double-blind Study in Patients With Acquired Thrombotic Thrombocytopenic Purpura (aTTP) to Evaluate the Pharmacokinetics,Safety and Efficacy of rADAMTS-13 (SHP655) Administered in Addition to Standard Of Care (SoC) Treatment Recruiting NCT03922308 Phase 2 SHP655
17 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
18 A Multicenter, Randomized, Double-blind, Placebo-parallel, Phase II Clinical Trial of the Efficacy and Safety of Anfibatide in Treating Patients With Acquired Thrombotic Thrombocytopenic Purpura (TTP) Not yet recruiting NCT04021173 Phase 2 Anfibatide;Placebos
19 A Randomized, Double-blind, Placebo Controlled, Clinical Outcome Study of ARC1779 Injection in Patients With Thrombotic Microangiopathy Terminated NCT00726544 Phase 2 ARC 1779 Placebo;ARC1779 Injection;ARC1779 Injection;ARC1779 Injection
20 Phase II Study of Danazol With Plasma Exchange and Steroids for the Treatment of Thrombotic Thrombocytopenic Purpura Terminated NCT00953771 Phase 2 Danazol
21 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
22 Use of Rituximab Treatment in Addition to Standard Care for Newly Presenting Thrombotic Thrombocytopenic Purpura Withdrawn NCT00251277 Phase 1, Phase 2 Rituximab
23 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
24 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
25 ADAMTS13-related Prognostic Factors in Adult and Pediatric Thrombotic Thrombocytopenic Purpura Completed NCT00426686
26 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
27 Thrombotic Thrombocytopenic Purpura Registry - A Prospective Observational Study for Patients Suffering From Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
28 Observational, Real-life Study of the Use of octaplasLG®. Recruiting NCT03369314 octaplasLG®
29 A Prospective Study on the Long-Term Vascular Burden in Thrombotic Thrombocytopenic Purpura Patients Recruiting NCT03187652
30 The United Kingdom Thrombotic Thrombocytopenic Purpura Registry Recruiting NCT03832881
31 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
32 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, Hereditary

Genetic Tests for Thrombotic Thrombocytopenic Purpura, Hereditary

Genetic tests related to Thrombotic Thrombocytopenic Purpura, Hereditary:

# Genetic test Affiliating Genes
1 Upshaw-Schulman Syndrome 29 ADAMTS13
2 Microangiopathic Hemolytic Anemia 29

Anatomical Context for Thrombotic Thrombocytopenic Purpura, Hereditary

MalaCards organs/tissues related to Thrombotic Thrombocytopenic Purpura, Hereditary:

40
Heart, Bone Marrow, Bone, Kidney, Brain, Cortex, Endothelial

Publications for Thrombotic Thrombocytopenic Purpura, Hereditary

Articles related to Thrombotic Thrombocytopenic Purpura, Hereditary:

(show top 50) (show all 142)
# Title Authors PMID Year
1
ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome. 61 6 57
30312976 2018
2
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. 61 57 6
14563640 2004
3
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. 57 6 61
12181489 2002
4
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017. 57 6
30792199 2019
5
ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity. 57 6
12576319 2003
6
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. 6 57
11586351 2001
7
Congenital microangiopathic hemolytic anemia: report of a Japanese girl. 6 57
7094941 1982
8
Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients. 57 61
19055667 2009
9
Plasma of patients with Upshaw-Schulman syndrome, a congenital deficiency of von Willebrand factor-cleaving protease activity, enhances the aggregation of normal platelets under high shear stress. 61 57
11843838 2001
10
Upshaw-Schulman syndrome revisited: a concept of congenital thrombotic thrombocytopenic purpura. 61 57
11530798 2001
11
Upshaw-Schulman syndrome and fibronectin (cold insoluble globulin) 61 57
7290149 1981
12
Decreased cold-insoluble globulin in congenital thrombocytopenia (Upshaw-Schulman syndrome) 57 61
759902 1979
13
Hereditary Thrombotic Thrombocytopenic Purpura. 6
31971692 2020
14
Hereditary Thrombotic Thrombocytopenic Purpura. 57
31971691 2020
15
Hereditary Thrombotic Thrombocytopenic Purpura. Reply. 57
31971693 2020
16
Hereditary Thrombotic Thrombocytopenic Purpura. 57
31644845 2019
17
High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: from clinical observation to evidence. 6
26566785 2016
18
Complement activation associated with ADAMTS13 deficiency in human and murine thrombotic microangiopathy. 57
23878316 2013
19
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. 6
18031293 2008
20
von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura. 6
15521921 2004
21
Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. 6
15126318 2004
22
Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. 6
14512317 2004
23
ADAMTS13 activity in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome: relation to presenting features and clinical outcomes in a prospective cohort of 142 patients. 57
12637323 2003
24
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. 6
12393505 2003
25
Thrombotic microangiopathies. 57
12192020 2002
26
Congenital microangiopathic hemolytic anemia and thrombocytopenia with unusually large von Willebrand factor multimers and von Willebrand factor-cleaving protease. 6
11563771 2001
27
Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome: the role of von Willebrand factor-cleaving protease. 57
11686108 2001
28
von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. 57
9828245 1998
29
Moschcowitz, multimers, and metalloprotease. 57
9828253 1998
30
Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. 57
9828246 1998
31
Deficient activity of von Willebrand factor-cleaving protease in chronic relapsing thrombotic thrombocytopenic purpura. 57
9129011 1997
32
Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. 57
8639782 1996
33
Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. 57
8639781 1996
34
Thrombotic thrombocytopenic purpura in 2 siblings: defective platelet function and plasma factor deficiency occurring simultaneously. 57
3952464 1986
35
Familial thrombotic microangiopathy. 57
4080959 1985
36
The association between idiopathic hemolytic uremic syndrome and infection by verotoxin-producing Escherichia coli. 57
3886804 1985
37
Efficacy of several plasma components in a young boy with chronic thrombocytopenia and hemolytic anemia who responds repeatedly to normal plasma infusions. 6
6433703 1984
38
Moschcowitz revisited. 57
6813741 1982
39
Unusually large plasma factor VIII:von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. 57
6813740 1982
40
Fibronectin levels in congenital thrombocytopenia: Schulman's syndrome. 57
7062977 1982
41
Hereditary thrombotic thrombocytopenic purpura: microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency occurring in consecutive generations. 57
7201082 1982
42
Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. 57
651994 1978
43
Demonstration of thrombopoietin production after plasma infusion in a patient with congenital thrombopoietin deficiency. 57
578039 1977
44
Thrombotic thrombocytopenic purpura in four siblings. 57
1168994 1975
45
Thrombotic thrombocytopenic purpura. Concomitant occurrence in husband and wife. 57
5107722 1971
46
Thrombopoiesis. 57
4864988 1967
47
Studies on thrombopoiesis. I. A factor in normal human plasma required for platelet production; chronic thrombocytopenia due to its deficiency. 57
14443744 1960
48
[Hemolytic-uremic syndrome: bilateral necrosis of the renal cortex in acute acquired hemolytic anemia]. 57
13274004 1955
49
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. 61 54
19847791 2010
50
Success and limitations of plasma treatment in pregnant women with congenital thrombotic thrombocytopenic purpura. 61
33433066 2020

Variations for Thrombotic Thrombocytopenic Purpura, Hereditary

ClinVar genetic disease variations for Thrombotic Thrombocytopenic Purpura, Hereditary:

6 (show top 50) (show all 157)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTS13 NM_139025.4(ADAMTS13):c.286C>G (p.His96Asp) SNV Pathogenic 5798 rs121908467 9:136289554-136289554 9:133424434-133424434
2 ADAMTS13 NM_139025.4(ADAMTS13):c.2851T>G (p.Cys951Gly) SNV Pathogenic 5799 rs121908468 9:136313839-136313839 9:133448718-133448718
3 ADAMTS13 NM_139025.4(ADAMTS13):c.304C>T (p.Arg102Cys) SNV Pathogenic 5800 rs121908469 9:136289572-136289572 9:133424452-133424452
4 ADAMTS13 NM_139025.4(ADAMTS13):c.587C>T (p.Thr196Ile) SNV Pathogenic 5801 rs121908470 9:136291366-136291366 9:133426246-133426246
5 ADAMTS13 NM_139025.4(ADAMTS13):c.3070T>G (p.Cys1024Gly) SNV Pathogenic 5803 rs121908472 9:136319562-136319562 9:133454440-133454440
6 ADAMTS13 NM_139025.4(ADAMTS13):c.1582A>G (p.Arg528Gly) SNV Pathogenic 5804 rs121908473 9:136303015-136303015 9:133437895-133437895
7 ADAMTS13 NM_139025.4(ADAMTS13):c.3638G>A (p.Cys1213Tyr) SNV Pathogenic 5808 rs121908474 9:136321260-136321260 9:133456138-133456138
8 ADAMTS13 NM_139025.4(ADAMTS13):c.2074C>T (p.Arg692Cys) SNV Pathogenic 5809 rs121908475 9:136307625-136307625 9:133442504-133442504
9 ADAMTS13 NM_139025.4(ADAMTS13):c.1584+5G>A SNV Pathogenic 5810 rs782235228 9:136303022-136303022 9:133437902-133437902
10 ADAMTS13 NM_139025.4(ADAMTS13):c.1345C>T (p.Gln449Ter) SNV Pathogenic 5811 rs121908476 9:136301985-136301985 9:133436865-133436865
11 ADAMTS13 NM_139025.4(ADAMTS13):c.803G>C (p.Arg268Pro) SNV Pathogenic 5812 rs121908477 9:136293870-136293870 9:133428750-133428750
12 ADAMTS13 NM_139025.4(ADAMTS13):c.414+1G>A SNV Pathogenic 5817 rs786205077 9:136290733-136290733 9:133425613-133425613
13 ADAMTS13 NM_139025.4(ADAMTS13):c.749C>T (p.Ala250Val) SNV Pathogenic 5818 rs121908478 9:136293816-136293816 9:133428696-133428696
14 ADAMTS13 NM_139025.4(ADAMTS13):c.331-1G>A SNV Pathogenic 5819 rs786205078 9:136290648-136290648 9:133425528-133425528
15 ADAMTS13 NM_139025.5(ADAMTS13):c.1193G>A (p.Arg398His) SNV Pathogenic 5802 rs121908471 9:136298598-136298598 9:133433478-133433478
16 ADAMTS13 NM_139025.4(ADAMTS13):c.4143dup (p.Glu1382fs) Duplication Pathogenic 5807 rs387906343 9:136324160-136324161 9:133459038-133459039
17 ADAMTS13 NM_139025.4(ADAMTS13):c.2863dup (p.Trp955fs) Duplication Pathogenic 802531 rs1588198044 9:136314904-136314905 9:133449783-133449784
18 ADAMTS13 NM_139025.4(ADAMTS13):c.3178C>T (p.Arg1060Trp) SNV Pathogenic 68815 rs142572218 9:136319670-136319670 9:133454548-133454548
19 ADAMTS13 NM_139025.4(ADAMTS13):c.3770dup (p.Leu1258fs) Duplication Pathogenic 5805 rs387906341 9:136321718-136321719 9:133456596-133456597
20 ADAMTS13 NM_139025.4(ADAMTS13):c.2376_2401del (p.Ala793fs) Deletion Pathogenic 5806 rs387906342 9:136308636-136308661 9:133443515-133443540
21 ADAMTS13 NM_139025.4(ADAMTS13):c.1342C>G (p.Gln448Glu) SNV Pathogenic 5813 rs2301612 9:136301982-136301982 9:133436862-133436862
22 ADAMTS13 NM_139025.4(ADAMTS13):c.1783_1784del (p.Leu595fs) Deletion Pathogenic 5815 rs387906344 9:136304564-136304565 9:133439443-133439444
23 ADAMTS13 NM_139025.4(ADAMTS13):c.291_319del (p.Glu98fs) Deletion Pathogenic 5820 rs387906345 9:136289551-136289579 9:133424431-133424459
24 ADAMTS13 NM_139025.4(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp) Deletion Pathogenic 5821 rs387906346 9:136314972-136314977 9:133449851-133449856
25 ADAMTS13 NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu) SNV Likely pathogenic 365546 rs36220240 9:136302010-136302010 9:133436890-133436890
26 ADAMTS13 NM_139025.4(ADAMTS13):c.415-1G>A SNV Likely pathogenic 667364 rs1554785114 9:136291057-136291057 9:133425937-133425937
27 ADAMTS13 NM_139026.5(ADAMTS13):c.3307+143del Deletion Likely pathogenic 402223 rs1060499780 9:136320698-136320698 9:133455576-133455576
28 ADAMTS13 NM_139027.6(ADAMTS13):c.1585-1G>C SNV Likely pathogenic 438663 rs1554789680 9:136303365-136303365 9:133438245-133438245
29 ADAMTS13 NM_139026.5(ADAMTS13):c.3844_3960del (p.Thr1282_Thr1320del) Deletion Likely pathogenic 438662 rs1554797078 9:136324118-136324234 9:133458996-133459112
30 ADAMTS13 NM_139025.4(ADAMTS13):c.577C>T (p.Arg193Trp) SNV Likely pathogenic 68823 rs281875287 9:136291356-136291356 9:133426236-133426236
31 ADAMTS13 NM_139025.4(ADAMTS13):c.262G>A (p.Val88Met) SNV Likely pathogenic 68812 rs281875302 9:136289530-136289530 9:133424410-133424410
32 ADAMTS13 NM_139025.4(ADAMTS13):c.330+1G>A SNV Likely pathogenic 632036 rs375415632 9:136289599-136289599 9:133424479-133424479
33 ADAMTS13 NM_139025.4(ADAMTS13):c.559G>C (p.Asp187His) SNV Likely pathogenic 632074 rs148312697 9:136291338-136291338 9:133426218-133426218
34 ADAMTS13 NM_139025.4(ADAMTS13):c.2017A>T (p.Ile673Phe) SNV Likely pathogenic 68809 rs281875307 9:136307568-136307568 9:133442447-133442447
35 ADAMTS13 NM_139025.4(ADAMTS13):c.2167C>A (p.Gln723Lys) SNV Conflicting interpretations of pathogenicity 225292 rs138014548 9:136307797-136307797 9:133442676-133442676
36 ADAMTS13 NM_139025.4(ADAMTS13):c.460G>A (p.Val154Ile) SNV Uncertain significance 632037 rs369026148 9:136291103-136291103 9:133425983-133425983
37 ADAMTS13 NM_139025.5(ADAMTS13):c.373C>T (p.Arg125Trp) SNV Uncertain significance 914603 9:136290691-136290691 9:133425571-133425571
38 ADAMTS13 NM_139025.5(ADAMTS13):c.1156C>T (p.Arg386Cys) SNV Uncertain significance 914641 9:136298561-136298561 9:133433441-133433441
39 ADAMTS13 NM_139025.5(ADAMTS13):c.1157G>A (p.Arg386His) SNV Uncertain significance 914642 9:136298562-136298562 9:133433442-133433442
40 ADAMTS13 NM_139025.5(ADAMTS13):c.1831A>G (p.Ile611Val) SNV Uncertain significance 914682 9:136305509-136305509 9:133440388-133440388
41 ADAMTS13 NM_139025.5(ADAMTS13):c.2827C>T (p.Arg943Trp) SNV Uncertain significance 914716 9:136313815-136313815 9:133448694-133448694
42 ADAMTS13 NM_139025.5(ADAMTS13):c.2861G>A (p.Arg954Gln) SNV Uncertain significance 914717 9:136313849-136313849 9:133448728-133448728
43 ADAMTS13 NM_139025.5(ADAMTS13):c.3536T>A (p.Leu1179Gln) SNV Uncertain significance 914773 9:136320693-136320693 9:133455571-133455571
44 ADAMTS13 NM_139025.5(ADAMTS13):c.3685G>A (p.Val1229Ile) SNV Uncertain significance 914774 9:136321307-136321307 9:133456185-133456185
45 ADAMTS13 NM_139025.5(ADAMTS13):c.3690T>A (p.Leu1230=) SNV Uncertain significance 914775 9:136321312-136321312 9:133456190-133456190
46 ADAMTS13 NM_139025.5(ADAMTS13):c.3713C>T (p.Ala1238Val) SNV Uncertain significance 914776 9:136321335-136321335 9:133456213-133456213
47 ADAMTS13 NM_139025.4(ADAMTS13):c.1261C>T (p.Arg421Cys) SNV Uncertain significance 450994 rs145825553 9:136298777-136298777 9:133433657-133433657
48 ADAMTS13 NM_139025.5(ADAMTS13):c.539+6C>T SNV Uncertain significance 912637 9:136291188-136291188 9:133426068-133426068
49 ADAMTS13 NM_139025.4(ADAMTS13):c.2915G>A (p.Arg972Gln) SNV Uncertain significance 365557 rs139951127 9:136314957-136314957 9:133449836-133449836
50 ADAMTS13 NM_139025.4(ADAMTS13):c.1551G>C (p.Gly517=) SNV Uncertain significance 365548 rs148472763 9:136302984-136302984 9:133437864-133437864

UniProtKB/Swiss-Prot genetic disease variations for Thrombotic Thrombocytopenic Purpura, Hereditary:

73 (show all 43)
# Symbol AA change Variation ID SNP ID
1 ADAMTS13 p.Val88Met VAR_027110 rs281875302
2 ADAMTS13 p.His96Asp VAR_027111 rs121908467
3 ADAMTS13 p.Arg102Cys VAR_027112 rs121908469
4 ADAMTS13 p.Arg193Trp VAR_027113 rs281875287
5 ADAMTS13 p.Thr196Ile VAR_027114 rs121908470
6 ADAMTS13 p.His234Gln VAR_027115 rs281875304
7 ADAMTS13 p.Ala250Val VAR_027116 rs121908478
8 ADAMTS13 p.Arg268Pro VAR_027117 rs121908477
9 ADAMTS13 p.Trp390Cys VAR_027118 rs281875306
10 ADAMTS13 p.Arg398His VAR_027119 rs121908471
11 ADAMTS13 p.Cys508Tyr VAR_027122 rs281875305
12 ADAMTS13 p.Arg528Gly VAR_027123 rs121908473
13 ADAMTS13 p.Ile673Phe VAR_027126 rs281875307
14 ADAMTS13 p.Arg692Cys VAR_027127 rs121908475
15 ADAMTS13 p.Cys908Tyr VAR_027131 rs281875301
16 ADAMTS13 p.Cys951Gly VAR_027132 rs121908468
17 ADAMTS13 p.Cys1024Gly VAR_027133 rs121908472
18 ADAMTS13 p.Arg1123Cys VAR_027136 rs281875340
19 ADAMTS13 p.Cys1213Tyr VAR_027137 rs121908474
20 ADAMTS13 p.Gly1239Val VAR_027138 rs281875303
21 ADAMTS13 p.Arg1336Trp VAR_027139 rs281875308
22 ADAMTS13 p.Ile79Met VAR_067770 rs281875297
23 ADAMTS13 p.Ser119Phe VAR_067771 rs281875291
24 ADAMTS13 p.Ile178Thr VAR_067772 rs281875289
25 ADAMTS13 p.Ser203Pro VAR_067773 rs281875298
26 ADAMTS13 p.Leu232Gln VAR_067774 rs281875292
27 ADAMTS13 p.Asp235His VAR_067775 rs281875337
28 ADAMTS13 p.Ser263Cys VAR_067776 rs281875293
29 ADAMTS13 p.Tyr304Cys VAR_067777 rs281875285
30 ADAMTS13 p.Cys311Tyr VAR_067778 rs281875336
31 ADAMTS13 p.Cys347Ser VAR_067780 rs281875294
32 ADAMTS13 p.Arg349Cys VAR_067781 rs281875288
33 ADAMTS13 p.Pro353Leu VAR_067782 rs281875338
34 ADAMTS13 p.Arg507Gln VAR_067783 rs281875296
35 ADAMTS13 p.Gly525Asp VAR_067784 rs281875286
36 ADAMTS13 p.Ala596Val VAR_067785 rs281875299
37 ADAMTS13 p.Ala606Pro VAR_067786 rs281875290
38 ADAMTS13 p.Tyr658Cys VAR_067787 rs281875335
39 ADAMTS13 p.Pro671Leu VAR_067788 rs281875295
40 ADAMTS13 p.Cys758Arg VAR_067789 rs281875300
41 ADAMTS13 p.Cys908Ser VAR_067790 rs281875301
42 ADAMTS13 p.Arg1060Trp VAR_067792 rs142572218
43 ADAMTS13 p.Arg1219Trp VAR_067793 rs281875339

Expression for Thrombotic Thrombocytopenic Purpura, Hereditary

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

Pathways for Thrombotic Thrombocytopenic Purpura, Hereditary

GO Terms for Thrombotic Thrombocytopenic Purpura, Hereditary

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.33 HP CFH ADAMTS13
2 extracellular space GO:0005615 9.13 HP CFH ADAMTS13
3 blood microparticle GO:0072562 8.62 HP CFH

Sources for Thrombotic Thrombocytopenic Purpura, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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