TMA
MCID: THR123
MIFTS: 39

Thrombotic Microangiopathy (TMA)

Categories: Blood diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Thrombotic Microangiopathy

MalaCards integrated aliases for Thrombotic Microangiopathy:

Name: Thrombotic Microangiopathy 58 28 5 75 31
Tma 58

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

ICD10 31 M31.1
MESH via Orphanet 44 D057049
UMLS via Orphanet 72 C2717961
Orphanet 58 ORPHA93573
ICD11 33 757747508

Summaries for Thrombotic Microangiopathy

MalaCards based summary: Thrombotic Microangiopathy, also known as tma, is related to viral infectious disease and systemic lupus erythematosus. An important gene associated with Thrombotic Microangiopathy is CD46 (CD46 Molecule). The drugs Acetylcysteine and Ravulizumab have been mentioned in the context of this disorder. Affiliated tissues include endothelial, kidney and bone marrow.

Wikipedia: 75 Thrombotic microangiopathy (TMA) is a pathology that results in thrombosis in capillaries and... more...

Related Diseases for Thrombotic Microangiopathy

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

(show top 50) (show all 685)
# Related Disease Score Top Affiliating Genes
1 viral infectious disease 30.4 STAT2 CD46
2 systemic lupus erythematosus 29.8 TREX1 CD46 ATRIP-TREX1 ATRIP
3 aicardi-goutieres syndrome 29.8 TREX1 STAT2
4 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 29.3 TREX1 ATRIP-TREX1 ATRIP
5 thrombotic thrombocytopenic purpura, hereditary 11.8
6 hemolytic uremic syndrome, atypical 1 11.5
7 thrombotic thrombocytopenic purpura 11.5
8 pseudo-torch syndrome 3 11.3
9 trimethylaminuria 11.3
10 de novo thrombotic microangiopathy after kidney transplantation 11.3
11 catastrophic antiphospholipid syndrome 11.2
12 genetic thrombotic microangiopathy 11.2
13 hemolytic-uremic syndrome 11.1
14 purpura 11.1
15 hemolytic anemia 11.1
16 thrombocytopenia 11.0
17 trimellitic anhydride allergic asthma 11.0
18 d-minus hemolytic uremic syndrome 11.0
19 graft-versus-host disease 10.9
20 acute kidney failure 10.9
21 pulmonary hypertension 10.8
22 malignant hypertension 10.8
23 deficiency anemia 10.8
24 glomerulonephritis 10.7
25 acute graft versus host disease 10.7
26 antiphospholipid syndrome 10.7
27 end stage renal disease 10.7
28 disseminated intravascular coagulation 10.7
29 kidney disease 10.7
30 lupus erythematosus 10.7
31 respiratory failure 10.7
32 immune-mediated thrombotic thrombocytopenic purpura 10.7
33 nephrotic syndrome 10.7
34 systemic lupus erythematosus 1 10.6
35 gastric cancer 10.6
36 pre-eclampsia 10.6
37 systemic scleroderma 10.6
38 vasculitis 10.6
39 hypertension, essential 10.5
40 myeloma, multiple 10.5
41 gastric adenocarcinoma 10.5
42 chronic kidney disease 10.5
43 scleroderma, familial progressive 10.5
44 aplastic anemia 10.5
45 diffuse gastric cancer 10.5
46 acute kidney tubular necrosis 10.5
47 focal segmental glomerulosclerosis 10.5
48 signet ring cell adenocarcinoma 10.5
49 immune deficiency disease 10.5
50 vitamin b12 deficiency 10.5

Graphical network of the top 20 diseases related to Thrombotic Microangiopathy:



Diseases related to Thrombotic Microangiopathy

Symptoms & Phenotypes for Thrombotic Microangiopathy

Drugs & Therapeutics for Thrombotic Microangiopathy

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 3 616-91-1 581 12035
2
Ravulizumab Approved, Investigational Phase 3 1803171-55-2
3 Antiviral Agents Phase 3
4 Anti-Infective Agents Phase 3
5 Expectorants Phase 3
6 Antidotes Phase 3
7 N-monoacetylcystine Phase 3
8 Respiratory System Agents Phase 3
9 Antioxidants Phase 3
10 Protective Agents Phase 3
11 Complement System Proteins Phase 3
12 Immunosuppressive Agents Phase 3
13 Immunologic Factors Phase 3
14
Defibrotide Approved, Investigational Phase 2 83712-60-1
15
Eculizumab Approved, Investigational Phase 2 219685-50-4
16 Fibrinolytic Agents Phase 2
17 Platelet Aggregation Inhibitors Phase 2
18 Anticoagulants Phase 2
19 Pharmaceutical Solutions Phase 2
20 Anti-Bacterial Agents
21 Antibiotics, Antitubercular
22 Immunoglobulins
23 Antibodies, Monoclonal
24 Antibodies

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 A Safety and Efficacy Study of N-acetylcysteine in Patients With Transplant-Associated Thrombotic Microangiopathy Completed NCT03252925 Phase 3 N-Acetylcysteine;Placebo Oral Tablet
2 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study of Ravulizumab in Adult and Adolescent Participants Who Have Thrombotic Microangiopathy (TMA) After Hematopoietic Stem Cell Transplant (HSCT) Recruiting NCT04543591 Phase 3
3 C5 Complement Inhbition Using Ravulizumab for the Treatment of COVID-19 Induced Thrombotic Microangiopathy Recruiting NCT04570397 Phase 3 Ravulizumab
4 Multicentre Study of Nomacopan (rVA576) in Paediatric Haematopoietic Stem-Cell Transplant Associated Thrombotic Microangiopathy Recruiting NCT04784455 Phase 3 nomacopan (rVA576)
5 A Phase 3, Randomized, Double-blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Ravulizumab in Adult Participants Who Have Thrombotic Microangiopathy Associated With a Trigger Active, not recruiting NCT04743804 Phase 3
6 A Phase 3, Open-label, Single Arm, Multicenter Study of Ravulizumab in Addition to Best Supportive Care in Pediatric Participants With Thrombotic Microangiopathy (TMA) After Hematopoietic Stem Cell Transplantation (HSCT) Active, not recruiting NCT04557735 Phase 3 Ravulizumab
7 A Pilot Trial of Using Pre-Transplant Risk Stratification and Prophylactic Defibrotide to Prevent Serious Thrombotic Microangiopathy in High-Risk Hematopoietic Stem Cell Transplant Patients Completed NCT03384693 Phase 2 Defibrotide
8 An Open-label, Single-arm, Multicenter Pilot Study to Evaluate the Pharmacokinetics, Pharmacodynamics, Efficacy and Safety of Pegcetacoplan in Patients With Transplant-associated Thrombotic Microangiopathy (TA-TMA) After Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT05148299 Phase 2 Pegcetacoplan
9 Early Intervention With Eculizumab to Treat Thrombotic Microangiopathy/Atypical Hemolytic Uremic Syndrome (TMA/aHUS)-Associated Multiple Organ Dysfunction Syndrome (MODS) in Hematopoietic Stem Cell Transplant (HCT) Recipients Active, not recruiting NCT03518203 Phase 2 Eculizumab
10 An Open-label, Phase 2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of KP104 in Subjects With Thrombotic Microangiopathy Secondary to Systemic Lupus Erythematosus Not yet recruiting NCT05504187 Phase 2 KP104
11 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
12 Identification of the Pathogenesis of Thrombotic Microangiopathy in the Allo Stem Cell Transplant Setting in Adults Completed NCT02604420 eculizumab
13 Assessment of Immature Platelet Fraction in Pregnancy-Associated Thrombotic Microangiopathy Completed NCT03232359
14 Incidence of Snakebite Associated Thrombotic Microangiopathy & Role of Peripheral Blood Smear as a Predictor of Clinical Outcome Recruiting NCT04845022
15 Construction of a Database for Thrombotic Microangiopathy Recruiting NCT05634928
16 Therapeutic Orientation Test in Thrombotic Microangiopathy Recruiting NCT04777435
17 Diagnostic and Risk Criteria for Complement Defects in Thrombotic Microangiopathy and Amplifying Conditions, Such as Severe Hypertension: The COMPETE Study. Recruiting NCT04745195
18 Single Patient Expanded Access Treatment Plan (EAP; Also Known As A Compassionate Use Plan) To Provide Patients Access To The Investigational Product Narsoplimab Available NCT04247906 Narsoplimab
19 Provision of OMS721 to Patients With Thrombotic Microangiopathy Under Compassionate Use Available NCT02355782
20 An Observational Study of All Forms of Thrombotic Microangiopathy in Pediatric Patients Terminated NCT00593229
21 A Retrospective Observational Study of Adult and Pediatric Patients With Thrombotic Microangiopathy (TMA) After Hematopoietic Stem Cell Transplant (HSCT) Withdrawn NCT04970004

Search NIH Clinical Center for Thrombotic Microangiopathy

Genetic Tests for Thrombotic Microangiopathy

Genetic tests related to Thrombotic Microangiopathy:

# Genetic test Affiliating Genes
1 Thrombotic Microangiopathy 28

Anatomical Context for Thrombotic Microangiopathy

Organs/tissues related to Thrombotic Microangiopathy:

MalaCards : Endothelial, Kidney, Bone Marrow, Liver, Bone, Lung, Breast

Publications for Thrombotic Microangiopathy

Articles related to Thrombotic Microangiopathy:

(show top 50) (show all 4131)
# Title Authors PMID Year
1
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation. 62 5
29941221 2018
2
Utilization of emicizumab in acquired hemophilia A: A case report. 62
35643753 2022
3
A Boy Presenting with a Fever and Pancytopenia Diagnosed with Systemic Lupus Erythematosus without a Positive Anti-ds-DNA Antibody Result or Hypocomplementemia: A Case Report. 62
36420549 2022
4
Late renal toxicity in patient with radioiodine-refractory differentiated thyroid cancer treated with lenvatinib: A case report and literature review. 62
35369811 2022
5
Copy number variation analysis using next-generation sequencing identifies the CFHR3/CFHR1 deletion in atypical hemolytic uremic syndrome: a case report. 62
35617302 2022
6
Differentiating and Managing Rare Thrombotic Microangiopathies During Pregnancy and Postpartum. 62
36455925 2022
7
Acute kidney injury due to thrombotic microangiopathy in a patient with primary Sjögren's syndrome. 62
35713344 2022
8
Therapeutic Plasma Exchange for Venom-Induced Thrombotic Microangiopathy Following Hump-Nosed Pit Viper (Genus: Hypnale) Bites: A Prospective Observational Study. 62
36244888 2022
9
Hump-Nosed Pit Viper Envenomation in Western Coastal India: A Case Series. 62
36229382 2022
10
C5 inhibition allows continued antineoplastic therapy in cancer- and chemotherapy-associated thrombotic microangiopathy. 62
35914225 2022
11
Thrombotic microangiopathy induced by rifampicin. 62
35945058 2022
12
What complements complement in transplant-associated thrombotic microangiopathy? 62
35942659 2022
13
Pulmonary thrombotic microangiopathy caused by neoplastic urothelial carcinoma cells. 62
36379732 2022
14
Upregulation of HIF-1α contributes to complement activation in transplantation-associated thrombotic microangiopathy. 62
35864790 2022
15
[Highlights of Swiss congress of internal general medicine: part 2]. 62
36416506 2022
16
Haemolytic uraemic syndrome. 62
36272423 2022
17
Acute and chronic histopathological findings in renal biopsies in COVID-19. 62
36396750 2022
18
Anti-glomerular basement membrane diseases and thrombotic microangiopathy treated with rituximab. 62
36420905 2022
19
Correction: Renal thrombotic microangiopathy and nephrotic proteinuria induced by intravitreal injection of aflibercept for diabetic macular edema. 62
36443705 2022
20
Epidemiology and outcomes of pediatric transplant-associated thrombotic microangiopathy in Hong Kong. 62
35860972 2022
21
Use of eculizumab in children with allogeneic haematopoietic stem cell transplantation associated thrombotic microangiopathy - a multicentre retrospective PDWP and IEWP EBMT study. 62
36333550 2022
22
A Report of 2 Cases of Kidney Involvement in ADA2 Deficiency: Different Disease Phenotypes and the Tissue Response to Type I Interferon. 62
35817275 2022
23
Acquired Thrombotic Thrombocytopenic Purpura After BNT162b2 COVID-19 Vaccine: Case Report and Literature Review. 62
35482291 2022
24
A Thrombotic Thrombocytopenic Purpura-Like Syndrome in HIV and Streptococcus pneumoniae Meningitis. 62
36465227 2022
25
HIV-associated thrombotic thrombocytopenic purpura (HIV-TTP): A practical guide and review of the literature. 62
35373442 2022
26
N-Acetylcysteine as Prophylactic Therapy for Transplantation-Associated Thrombotic Microangiopathy: A Randomized, Placebo-Controlled Trial. 62
35940529 2022
27
Harmonizing Definitions for Diagnostic Criteria and Prognostic Assessment of Transplant Associated Thrombotic Microangiopathy: A Report on Behalf of the European Society for Blood and Marrow Transplantation (EBMT), American Society for Transplantation and Cellular Therapy (ASTCT), Asia-Pacific Blood and Marrow Transplantation Group (APBMT) and the Center for International Blood and Marrow Transplant Research (CIBMTR). 62
36442770 2022
28
How I treat thrombotic microangiopathy in the era of rapid genomics. 62
36347020 2022
29
Endothelial function testing before conditioning therapy is useful for predicting transplant-related complications after allogeneic hematopoietic cell transplantation. 62
36436130 2022
30
The prevalence and clinical outcomes of microangiopathic hemolytic anemia in patients with biopsy-proven renal thrombotic microangiopathy. 62
36054780 2022
31
Ocular involvement in STEC-associated hemolytic uremic syndrome. 62
35524864 2022
32
How I diagnose and treat atypical hemolytic uremic syndrome. 62
36322940 2022
33
Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation. 62
35522339 2022
34
A Case of Thrombotic Microangiopathy and Acute Sarcoidosis. 62
36344132 2022
35
Exploratory Prognostic Biomarkers of Complement-Mediated Thrombotic Microangiopathy (CM-TMA) in Adults with Atypical Hemolytic Uremic Syndrome (aHUS): Analysis of a Phase III Study of Ravulizumab. 62
36329366 2022
36
Comparison of outcomes after plasma therapy or eculizumab in pediatric patients with atypical hemolytic uremic syndrome. 62
36336723 2022
37
A Multicenter Study Evaluating the Discontinuation of Eculizumab Therapy in Children with Atypical Hemolytic Uremic Syndrome. 62
36421183 2022
38
Thrombotic microangiopathy with refractory lupus nephritis successfully treated by combining rituximab with belimumab. 62
36409225 2022
39
Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developing during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report. 62
36416547 2022
40
Complement factor H variants are associated with microangiopathy lesions in IgA nephropathy. 62
36113314 2022
41
Renal and vascular outcomes in patients with isolated antiphospholipid syndrome nephropathy. 62
35987174 2022
42
Presentation of concurrent thrombotic thrombocytopenic purpura and Graves' disease. 62
35867945 2022
43
Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy. 62
36306276 2022
44
Novel homozygous CD46 variant with C-isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome. 62
35987516 2022
45
An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion. 62
36070894 2022
46
Clinical Utility and Potential Cost Savings of Pharmacologic Monitoring of Eculizumab for Complement-Mediated Thrombotic Microangiopathy. 62
36160640 2022
47
Pathology findings in pediatric patients with COVID-19 and kidney dysfunction. 62
35166918 2022
48
Heparin-induced thrombocytopenia following Shiga-toxin-associated hemolytic uremic syndrome: a case report. 62
36273193 2022
49
Pulmonary Manifestations and Vascular Changes in Pediatric Transplantation-Associated Thrombotic Microangiopathy. 62
36202334 2022
50
[Risk factors for acute kidney injury after hematopoietic stem cell transplantation in children: a retrospective study]. 62
36305115 2022

Variations for Thrombotic Microangiopathy

ClinVar genetic disease variations for Thrombotic Microangiopathy:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD46 NM_172351.3(CD46):c.287-2A>G SNV Pathogenic
1163189 GRCh37: 1:207930883-207930883
GRCh38: 1:207757538-207757538
2 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.830_833dup (p.Asp278fs) DUP Likely Pathogenic
1344583 GRCh37: 3:48508881-48508882
GRCh38: 3:48467482-48467483
3 CFH NM_000186.4(CFH):c.2753G>A (p.Gly918Glu) SNV Uncertain Significance
1163680 GRCh37: 1:196706761-196706761
GRCh38: 1:196737631-196737631
4 CFH NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) SNV Likely Benign
294520 rs35274867 GRCh37: 1:196712596-196712596
GRCh38: 1:196743466-196743466
5 CFI NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) SNV Likely Benign
347156 rs41278047 GRCh37: 4:110667485-110667485
GRCh38: 4:109746329-109746329

Expression for Thrombotic Microangiopathy

Search GEO for disease gene expression data for Thrombotic Microangiopathy.

Pathways for Thrombotic Microangiopathy

GO Terms for Thrombotic Microangiopathy

Biological processes related to Thrombotic Microangiopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 type I interferon-mediated signaling pathway GO:0060337 9.46 TREX1 STAT2
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.43 TREX1 ATRIP
3 DNA damage checkpoint signaling GO:0000077 9.13 TREX1 ATRIP
4 negative regulation of type I interferon-mediated signaling pathway GO:0060339 8.92 TREX1 STAT2

Molecular functions related to Thrombotic Microangiopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exonuclease activity GO:0004527 8.62 TREX1 ATRIP

Sources for Thrombotic Microangiopathy

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