congenital prothrombin deficiency
Findings
No curated finding names congenital prothrombin deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.
Definition from the Mondo Disease Ontology (MONDO:0013361), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
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.
- Prolonged partial thromboplastin timeHPOHP:0003645
- Very frequent (80% to 99% of cases)
- Prolonged prothrombin timeHPOHP:0008151
- Very frequent (80% to 99% of cases)
- Reduced prothrombin antigenHPOHP:0040250
- Very frequent (80% to 99% of cases)
- Abnormal bleedingHPOHP:0001892
- Frequent (30% to 79% of cases)
- EpistaxisHPOHP:0000421
- Frequent (30% to 79% of cases)
- Intracranial hemorrhageHPOHP:0002170
- Frequent (30% to 79% of cases)
Show the remaining 7
- MenorrhagiaHPOHP:0000132
- Occasional (5% to 29% of cases)
- Microscopic hematuriaHPOHP:0002907
- Occasional (5% to 29% of cases)
- Oral cavity bleedingHPOHP:0030140
- 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 following circumcisionHPOHP:0030137
- 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.
- F2HGNC:3535
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: congenital prothrombin deficiency
- Also called
- Dysprothrombinemiahereditary prothrombin deficiency