Coagulation protein disease

Summary

Coagulation protein disease (MONDO:0002242) is a disease (an umbrella term covering 28 Mondo subtypes) and 7 clinical trials. Top therapeutic interventions include phytonadione. A subtype of blood coagulation disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 28 Mondo subtypes
• Clinical trials: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	coagulation protein disease
Mondo ID	MONDO:0002242
MeSH	D020147
DOID	DOID:2212
NCIT	C27215
SNOMED CT	86075001
UMLS	C0600503
MedGen	108723
GARD	0023096
Is cancer (heuristic)	no

Also known as: coagulation factor deficiency · coagulation factor deficiency syndrome

Disease family

This is a subtype of blood coagulation disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood coagulation disease › coagulation protein disease

Related subtypes (7): marantic endocarditis, hemolytic-uremic syndrome, thrombophilia, hemorrhagic disease of newborn, thrombotic microangiopathy, inherited blood coagulation disorder, prekallikrein deficiency

Subtypes (28): factor XIII deficiency, factor VII deficiency, factor X deficiency, thrombophilia due to activated protein C resistance, hypoplasminogenemia, congenital high-molecular-weight kininogen deficiency, congenital factor XII deficiency, alpha-2-plasmin inhibitor deficiency, Tatsumi factor deficiency, East Texas bleeding disorder, inherited prekallikrein deficiency, congenital plasminogen activator inhibitor type 1 deficiency, thrombomodulin-related bleeding disorder, congenital vitamin K-dependent coagulation factors deficiency, hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation, multiple sclerosis-ichthyosis-factor VIII deficiency syndrome, congenital fibrinogen deficiency, combined deficiency of factor V and factor VIII, hemophilia, factor V deficiency, acquired coagulation factor deficiency, von Willebrand disease (hereditary or acquired), factor V short isoforms-related bleeding disorder, factor V amsterdam bleeding disorder, factor V atlanta bleeding disorder, combined deficiency of factor VII and factor X, plasminogen deficiency, type II, dysplasminogenemia

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

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

4 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Coagulation Factor Ix Human	Approved (phase 4)
Coagulation Factor Vii Human	Approved (phase 4)
Coagulation Factor X Human	Approved (phase 4)
Protein S Human	Approved (phase 4)

Clinical trials & evidence

Clinical trials

Clinical trials: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06481995	PHASE4	RECRUITING	SWIFT - SWIss Factor XIII Trial in PPH
NCT06727669	Not specified	RECRUITING	Longitudinal Cohort of Thrombosis and Hemostasis Diseases
NCT03273998	Not specified	UNKNOWN	Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Assiut University Children Hospital
NCT03634215	Not specified	COMPLETED	Estimation of Coagulation Factor XIII Activity Based on the Initial Plasma Fibrinogen Level in Trauma
NCT03754868	Not specified	COMPLETED	Evaluation of Coagulation Factors and Point-of-care Devices During Veno-venous ECMO Therapy
NCT03782025	Not specified	COMPLETED	Effect of Vitamin K in Critically Ill Patients
NCT06014320	Not specified	UNKNOWN	Alterations in Coagulation Factor Levels in Patients With End Stage Liver Disease

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PHYTONADIONE	4	1
CHEMBL520156	0	1