congenital factor V deficiency
Findings
No curated finding names congenital factor V deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.
Definition from the Mondo Disease Ontology (MONDO:0009210), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EpistaxisHPOHP:0000421
- Frequent (30% to 79% of cases)
- Joint hemorrhageHPOHP:0005261
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- Occasional (5% to 29% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Occasional (5% to 29% of cases)
- Gingival bleedingHPOHP:0000225
- Occasional (5% to 29% of cases)
- HematuriaHPOHP:0000790
- Occasional (5% to 29% of cases)
- MenorrhagiaHPOHP:0000132
- Occasional (5% to 29% of cases)
- Oral cavity bleedingHPOHP:0030140
- Occasional (5% to 29% of cases)
- Persistent bleeding after traumaHPOHP:0001934
- Occasional (5% to 29% of cases)
- Post-partum hemorrhageHPOHP:0011891
- Occasional (5% to 29% of cases)
- Prolonged bleeding after dental extractionHPOHP:0006298
- Occasional (5% to 29% of cases)
- Prolonged bleeding after surgeryHPOHP:0004846
- Occasional (5% to 29% of cases)
Show the remaining 7
- Prolonged bleeding following circumcisionHPOHP:0030137
- Occasional (5% to 29% of cases)
- Prolonged bleeding following procedureHPOHP:0011890
- Occasional (5% to 29% of cases)
- Spontaneous hematomasHPOHP:0007420
- Occasional (5% to 29% of cases)
- HematocheziaHPOHP:0002573
- Very rare (1% to 4% of cases)
- HemoptysisHPOHP:0002105
- Very rare (1% to 4% of cases)
- Intracranial hemorrhageHPOHP:0002170
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- F5HGNC:3542
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: congenital factor V deficiency
- Also called
- hereditary Factor V deficiencylabile factor deficiencyOwren diseaseParahemophiliaProaccelerin deficiency