congenital plasminogen activator inhibitor type 1 deficiency
Findings
No curated finding names congenital plasminogen activator inhibitor type 1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.
Definition from the Mondo Disease Ontology (MONDO:0013227), read 2026-09-29. CC BY 4.0.
- Onset and course
- Miscarriage
HPO, annotations 2026-09-02
Features
23 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.
- Decreased circulating plasminogen concentrationHPOHP:0040228
- Very frequent (80% to 99% of cases)
- Decreased level of tissue plasminogen activatorHPOHP:0040230
- Very frequent (80% to 99% of cases)
- Persistent bleeding after traumaHPOHP:0001934
- Very frequent (80% to 99% of cases)
- Prolonged bleeding after surgeryHPOHP:0004846
- Very frequent (80% to 99% of cases)
- Reduced alpha-2-antiplasmin activityHPOHP:0040245
- Very frequent (80% to 99% of cases)
- Reduced plasminogen activator inhibitor 1 activityHPOHP:0040248
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Intracranial hemorrhageHPOHP:0002170
- 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)
- Umbilical cord hematomaHPOHP:0030657
- Occasional (5% to 29% of cases)
- Epidural hemorrhageHPOHP:0100310
- 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.
- SERPINE1HGNC:8583
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: congenital plasminogen activator inhibitor type 1 deficiency
- Also called
- congenital PAI-1 deficiency