Thrombotic disease

Summary

Thrombotic disease (MONDO:0000831) is a disease (an umbrella term covering 8 Mondo subtypes) with 1 cohort gene and 342 clinical trials. Top therapeutic interventions include aspirin, heparin, and clopidogrel.

At a glance

• Umbrella term: 8 Mondo subtypes
• Cohort genes: 1
• Clinical trials: 342

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	thrombotic disease
Mondo ID	MONDO:0000831
MeSH	D013927
DOID	DOID:0060903
NCIT	C26891
SNOMED CT	439127006
UMLS	C0040053
MedGen	21160
Is cancer (heuristic)	no

Also known as: blood clot · blood Clots · clot, blood · Clots, blood · Thromboses · thrombosis · thrombotic disorder · thrombus

Data availability: 1 GenCC gene-disease record.

Disease family

An umbrella term covering 8 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › thrombotic disease

Related subtypes (59): arterial disorder, ischemic colitis, capillary disorder, angiodysplasia, hepatic vascular disorder, vascular hemostatic disease, vein disorder, ischemic disease, peripheral vascular disease, venous thromboembolism, ocular vascular disorder, cholesterol embolism, thoracic outlet syndrome, idiopathic spontaneous coronary artery dissection, cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, angioosteohypertrophic syndrome, Bannayan-Riley-Ruvalcaba syndrome, arterial tortuosity syndrome, hereditary arterial and articular multiple calcification syndrome, pulmonary venoocclusive disease, multiple cutaneous and mucosal venous malformations, arterial dissection-lentiginosis syndrome, patent ductus arteriosus, multisystemic smooth muscle dysfunction syndrome, STING-associated vasculopathy with onset in infancy, capillary malformation, Ehlers-Danlos syndrome, vascular-like type, calciphylaxis, neonatal Marfan syndrome, Ehlers-Danlos syndrome, vascular type, lethal arteriopathy syndrome due to fibulin-4 deficiency, congenital portosystemic shunt, arterial calcification of infancy, vasculitis, Loeys-Dietz syndrome, skin vascular disease, lymphatic malformation, familial thoracic aortic aneurysm and aortic dissection, congenital anomaly of superior vena cava, congenital anomaly of the inferior vena cava, congenital anomaly of hepatic vein, congenital renal artery stenosis, internal carotid agenesis, coronary sinus stenosis, coronary sinus atresia, vascular occlusion disorder, vascular insufficiency disorder, blood vessel neoplasm, vascular ectasia, vascular disorder of penis, fibrocartilaginous embolism, vascular malformation, lymphatic vessel neoplasm, neurovascular disorder, superior vena cava syndrome, coronary microvascular disorder, segmental arterial mediolysis, bleeding disorder, vascular-type, arterial tortuosity-bone fragility syndrome

Subtypes (8): marantic endocarditis, portal vein thrombosis, intracranial thrombosis, coronary thrombosis, heparin-induced thrombocytopenia, acquired purpura fulminans, isolated splenic vein thrombosis, isolated mesenteric vein thrombosis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
MAST2	Limited	Autosomal dominant	thrombotic disease

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MAST2	HGNC:19035	ENSG00000086015	Q6P0Q8	Microtubule-associated serine/threonine-protein kinase 2	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MAST2	Microtubule-associated serine/threonine-protein kinase 2	Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MAST2	Kinase	yes		Prot_kinase_dom, AGC-kinase_C, PDZ

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
gastrocnemius	1
hindlimb stylopod muscle	1
muscle of leg	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MAST2	289	ubiquitous	marker	gastrocnemius, hindlimb stylopod muscle, muscle of leg

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MAST2	1,635

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MAST2	Q6P0Q8	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of interleukin-12 production	1	4213.0×	0.001	MAST2
spermatid differentiation	1	1685.2×	0.001	MAST2
cytoskeleton organization	1	132.7×	0.013	MAST2
protein phosphorylation	1	68.0×	0.018	MAST2
intracellular signal transduction	1	38.1×	0.026	MAST2

Therapeutics

Drugs indicated for this disease

50 approved, 23 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Abciximab	Approved (phase 4)
Acenocoumarol	Approved (phase 4)
Alteplase	Approved (phase 4)
Anistreplase	Approved (phase 4)
Antithrombin Iii Human	Approved (phase 4)
Apixaban	Approved (phase 4)
Argatroban	Approved (phase 4)
Aspirin	Approved (phase 4)
Betrixaban	Approved (phase 4)
Bivalirudin	Approved (phase 4)
Cangrelor	Approved (phase 4)
Caplacizumab	Approved (phase 4)
Cilostazol	Approved (phase 4)
Clopidogrel	Approved (phase 4)
Dabigatran Etexilate	Approved (phase 4)
Dalteparin Sodium	Approved (phase 4)
Danaparoid Sodium	Approved (phase 4)
Desirudin	Approved (phase 4)
Dicumarol	Approved (phase 4)
Dipyridamole	Approved (phase 4)
Drotrecogin Alfa (Activated)	Approved (phase 4)
Edoxaban	Approved (phase 4)
Enoxaparin Sodium	Approved (phase 4)
Epoprostenol	Approved (phase 4)
Eptifibatide	Approved (phase 4)
Fibrinolysin, Human	Approved (phase 4)
Fluindione	Approved (phase 4)
Fondaparinux	Approved (phase 4)
Heparin	Approved (phase 4)
Iloprost	Approved (phase 4)
Lepirudin	Approved (phase 4)
Melagatran	Approved (phase 4)
Phenindione	Approved (phase 4)
Phenprocoumon	Approved (phase 4)
Picotamide	Approved (phase 4)
Protein C Concentrate (Human)	Approved (phase 4)
Reteplase	Approved (phase 4)
Rivaroxaban	Approved (phase 4)
Selexipag	Approved (phase 4)
Streptokinase	Approved (phase 4)
Tenecteplase	Approved (phase 4)
Ticagrelor	Approved (phase 4)
Ticlopidine	Approved (phase 4)
Tinzaparin Sodium	Approved (phase 4)
Tirofiban	Approved (phase 4)
Treprostinil	Approved (phase 4)
Urokinase	Approved (phase 4)
Vorapaxar	Approved (phase 4)
Warfarin	Approved (phase 4)
Ximelagatran	Approved (phase 4)
Acetylcysteine	Phase 3 (in late-stage trials)
Alfimeprase	Phase 3 (in late-stage trials)
Ancrod	Phase 3 (in late-stage trials)
Avidin	Phase 3 (in late-stage trials)
Bemiparin	Phase 3 (in late-stage trials)
Busulfan	Phase 3 (in late-stage trials)
Cytarabine	Phase 3 (in late-stage trials)
Defibrotide	Phase 3 (in late-stage trials)
Epirubicin	Phase 3 (in late-stage trials)
Estrogens, Conjugated	Phase 3 (in late-stage trials)
Ethiodized Oil	Phase 3 (in late-stage trials)
Heparin Sodium	Phase 3 (in late-stage trials)
Idrabiotaparinux Sodium	Phase 3 (in late-stage trials)
Indobufen	Phase 3 (in late-stage trials)
Limaprost	Phase 3 (in late-stage trials)
Medroxyprogesterone Acetate	Phase 3 (in late-stage trials)
Nadroparin Calcium	Phase 3 (in late-stage trials)
Parnaparin	Phase 3 (in late-stage trials)
Prasugrel	Phase 3 (in late-stage trials)
Progesterone	Phase 3 (in late-stage trials)
Salicylic Acid	Phase 3 (in late-stage trials)
Sulodexide	Phase 3 (in late-stage trials)
Triflusal	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Beraprost, Carboplatin, Endostatin, N-Terminal-Mggshhhhh, Fluorouracil, Vitamin K.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MAST2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MAST2	19	Binding:19

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	MAST2
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
MAST2	19	—

Clinical trials & evidence

Clinical trials

Clinical trials: 342.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	200
PHASE4	43
PHASE3	35
PHASE1	33
PHASE2	19
PHASE1/PHASE2	5
PHASE2/PHASE3	4
EARLY_PHASE1	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03568890	PHASE4	ACTIVE_NOT_RECRUITING	Short-Term Anticoagulation Versus Antiplatelet Therapy for Preventing Device Thrombosis Following Left Atrial Appendage Closure
NCT05245877	PHASE4	RECRUITING	Pre- Vs. Postoperative Thromboprophylaxis in Pancreatic Surgery
NCT06115070	PHASE4	NOT_YET_RECRUITING	Intravenous Thrombolytic Therapy for Acute Ischemic Stroke Patients with Low NIHSS and Non-disabling Deficits
NCT06498323	PHASE4	RECRUITING	Intravenous TNK vs TPA for AIS Treatment on MSU,a Prospective Multicenter RCT
NCT00039858	PHASE4	COMPLETED	Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin
NCT00190307	PHASE4	COMPLETED	STRATAGEM: Strategy for Managing Antiplatelet Therapy in the Perioperative Period of Non Coronary Surgery
NCT00203580	PHASE4	COMPLETED	Trial of the Effect of Low-Molecular-Weight Heparin (LMWH) Versus Warfarin on Mortality in the Long-Term Treatment of Proximal Deep Vein Thrombosis (DVT) (Main LITE Study)
NCT00203658	PHASE4	COMPLETED	Assessment of Long-Term Out-of-Hospital Treatment of Patients With Proximal Deep Vein Thrombosis (DVT) Using Low-Molecular-Weight Heparin (LMWH) Versus LMWH Followed by Warfarin
NCT00303420	PHASE4	TERMINATED	Alteplase for Blood Flow Restoration in Hemodialysis Catheters
NCT00447434	PHASE4	COMPLETED	Efficacy and Safety of Natto Extract
NCT00479362	PHASE4	COMPLETED	Anticoagulant Therapy During Pacemaker Implantation
NCT00733434	PHASE4	UNKNOWN	The Use of Prostaglandin E1 in Head and Neck Microsurgery
NCT00766896	PHASE4	COMPLETED	Platelet Hyperreactivity to Aspirin and Stroke
NCT00796692	PHASE4	COMPLETED	Nadroparin for the Initial Treatment of Pulmonary Thromboembolism
NCT00913133	PHASE4	COMPLETED	Safety Study of Desirudin, an Anticoagulant for the Prophylaxis of Thrombosis
NCT00983112	PHASE4	UNKNOWN	Evicel Study on the Peri-operative Bleeding in Total Knee Prothesis Surgery
NCT01006486	PHASE4	COMPLETED	Outcomes of an Anticoagulation Clinic in an University Hospital
NCT01021488	PHASE4	UNKNOWN	Rosuvastatin for Preventing Deep Vein Thrombosis
NCT01063426	PHASE4	UNKNOWN	Re-STOP DVT: Reload of High Dose Atorvastatin for Preventing Deep Vein Thrombosis in Statin Users
NCT01178268	PHASE4	COMPLETED	XIENCE V Everolimus Eluting Coronary Stent System (EECSS) China: Post-Approval Randomized Control Trial (RCT)
NCT01281033	PHASE4	COMPLETED	CompariSon of Manual Aspiration With Rheolytic Thrombectomy in Patients Undergoing Primary PCI. The SMART-PCI Trial
NCT01392612	PHASE4	COMPLETED	Erythropoietin and Platelet Activation Markers
NCT01410539	PHASE4	COMPLETED	Mechanism Of Stent Thrombosis (MOST) Study
NCT01478282	PHASE4	UNKNOWN	Reversal of the Antithrombotic Action of New Oral Anticoagulants
NCT01612884	PHASE4	TERMINATED	Antiplatelet Therapy Guided by Thrombelastography in Patients With Acute Coronary Syndromes (TEGCOR Study)
NCT01670474	PHASE4	UNKNOWN	Prolonged Hemodialysis Catheter Survival With Copolymer Coating and Rt-PA
NCT01823185	PHASE4	UNKNOWN	Bedside Testing of CYP2C19 Gene for Treatment of Patients With PCI With Antiplatelet Therapy
NCT01875185	PHASE4	TERMINATED	Hormones Inflammation and Thrombosis
NCT02055131	PHASE4	UNKNOWN	Antiaggregation in Primary Prevention of Vascular Access for Hemodialysis
NCT02140801	PHASE4	COMPLETED	Optical Coherence Tomography to Evaluate Ticagrelor and Clopidogrel
NCT02295475	PHASE4	COMPLETED	Apixaban for Secondary Prevention of Thromboembolism Among Patients With AntiphosPholipid Syndrome
NCT02486367	PHASE4	COMPLETED	Inflammation and Thrombosis in Patients With Severe Aortic Stenosis After Transcatheter Aortic Valve Replacement (TAVR)
NCT02639143	PHASE4	COMPLETED	Rapid P2Y12 Receptor Inhibition Attenuates Inflammatory Cell Infiltration in Thrombus Aspirated From the STEMI Patients
NCT02945280	PHASE4	TERMINATED	Apixaban for Routine Management of Upper Extremity Deep Venous Thrombosis
NCT02974920	PHASE4	UNKNOWN	Rivaroxaban or Aspirin for Biological Aortic Prosthesis
NCT03161678	PHASE4	COMPLETED	CES1 Crossover Trial of Clopidogrel and Ticagrelor
NCT03805672	PHASE4	TERMINATED	Below Knee DVT Study
NCT04373707	PHASE4	COMPLETED	Weight-Adjusted vs Fixed Low Doses of Low Molecular Weight Heparin For Venous Thromboembolism Prevention in COVID-19
NCT04746339	PHASE4	TERMINATED	Apixaban for PrOphyLaxis of thromboemboLic Outcomes in COVID-19
NCT05067153	PHASE4	UNKNOWN	Thromboprophylaxis in Oesophageal Cancer Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ASPIRIN	4	17
HEPARIN	4	8
CLOPIDOGREL	4	6
FONDAPARINUX	4	6
APIXABAN	4	5
DABIGATRAN ETEXILATE	4	5
ENOXAPARIN SODIUM	4	5
RIVAROXABAN	4	5
DALTEPARIN SODIUM	4	4
WARFARIN	4	4
ALTEPLASE	4	3
TICAGRELOR	4	3
BIVALIRUDIN	4	2
EDOXABAN TOSYLATE	4	2
LEVAMISOLE	4	2
NADROPARIN CALCIUM	4	2
ROSUVASTATIN	4	2
TINZAPARIN SODIUM	4	2
ALPROSTADIL	4	1
AMINOCAPROIC ACID	4	1
ARGATROBAN	4	1
BUSULFAN	4	1
CITRIC ACID	4	1
DESIRUDIN	4	1
EDOXABAN	4	1
EMPAGLIFLOZIN	4	1
ESTROGENS, CONJUGATED	4	1
FISH OIL	4	1
LEPIRUDIN	4	1
MEDROXYPROGESTERONE ACETATE	4	1