congenital factor VII deficiency
Findings
No curated finding names congenital factor VII deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.
Definition from the Mondo Disease Ontology (MONDO:0009211), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- Bruising susceptibilityHPOHP:0000978
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- EpistaxisHPOHP:0000421
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Joint hemorrhageHPOHP:0005261
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- MenorrhagiaHPOHP:0000132
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Prolonged bleeding after dental extractionHPOHP:0006298
- 1 of 1 reported patient
- Reduced factor VII activityHPOHP:0008169
- 1 of 1 reported patient
Show the remaining 2
- Ovarian cystHPOHP:0000138
- Occasional (5% to 29% of cases)
- Post-partum hemorrhageHPOHP:0011891
- Occasional (5% to 29% 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.
- F7HGNC:3544
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: congenital factor VII deficiency
- Also called
- congenital proconvertin deficiencyhypoproconvertinemia