Inherited blood coagulation disorder

Summary

Inherited blood coagulation disorder (MONDO:0021181) is a disease (an umbrella term covering 40 Mondo subtypes) with 2 GWAS associations across 2 studies. 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: 40 Mondo subtypes
• GWAS associations: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	inherited blood coagulation disorder
Mondo ID	MONDO:0021181
MeSH	D025861
Orphanet	183654
DOID	DOID:2214
UMLS	C0852077
MedGen	163105
GARD	0020319
Is cancer (heuristic)	no

Also known as: coagulation disorder, hereditary · coagulation disorder, inherited · coagulation disorders, hereditary · coagulation disorders, inherited · hereditary blood coagulation disease · hereditary blood coagulation disorders · hereditary coagulation disorder · hereditary coagulation disorders · inherited blood coagulation disorders · inherited coagulation disorder · inherited coagulation disorders · rare genetic coagulation disorder

Data availability: 2 GWAS associations (2 studies).

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 › inherited blood coagulation disorder

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

Subtypes (40): factor VII and Factor VIII, combined deficiency of, platelet-type bleeding disorder 16, hypoplasminogenemia, Ehlers-Danlos syndrome, fibronectinemic type, factor V and factor VIII, combined deficiency of, type 1, congenital factor V deficiency, congenital high-molecular-weight kininogen deficiency, congenital factor XII deficiency, alpha-2-plasmin inhibitor deficiency, Scott syndrome, Tatsumi factor deficiency, congenital thrombotic thrombocytopenic purpura, Wiskott-Aldrich syndrome, hemophilia A, hemophilia B, hereditary thrombocytopenia and hematologic cancer predisposition syndrome, platelet-type bleeding disorder 12, platelet-type bleeding disorder 10, platelet-type bleeding disorder 8, hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, congenital factor XI deficiency, inherited prekallikrein deficiency, factor XIII, A subunit, deficiency of, factor XIII, b subunit, deficiency of, congenital plasminogen activator inhibitor type 1 deficiency, factor 5 and Factor VIII, combined deficiency of, 2, platelet-type bleeding disorder 14, platelet-type bleeding disorder 18, congenital vitamin K-dependent coagulation factors deficiency, hereditary thrombocytosis with transverse limb defect, familial thrombomodulin anomalies, cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Hermansky-Pudlak syndrome, hereditary von Willebrand disease, inherited thrombophilia, Glanzmann thrombasthenia, plasminogen deficiency, type II, dysplasminogenemia, hereditary hemolytic uremic syndrome, hepatic fibrinogen storage disease

Genetics & variants

GWAS landscape

2 GWAS associations across 2 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs6025	2e-75	F5	?	12.21

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90837432	Koyama S	2025	0	0	Genetics and context for precision health in Greater Boston.
GCST90837433	Koyama S	2025	0	0	Genetics and context for precision health in Greater Boston.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	0

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs6025	1	169549811	C>A,G,T	0.05	missense_variant	F5	2e-75	Tier 1: coding

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

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

Drug	Development status
Catridecacog	Approved (phase 4)

Clinical trials & evidence

Clinical trials

Clinical trials: 0.