alpha-2-plasmin inhibitor deficiency
Findings
No curated finding names alpha-2-plasmin inhibitor deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.
Definition from the Mondo Disease Ontology (MONDO:0009883), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Joint hemorrhageHPOHP:0005261
- Very frequent (80% to 99% of cases)
- Persistent bleeding after traumaHPOHP:0001934
- Very frequent (80% to 99% of cases)
- Abnormal bleedingHPOHP:0001892
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- Frequent (30% to 79% of cases)
- HemothoraxHPOHP:0012151
- Frequent (30% to 79% of cases)
- Intramuscular hematomaHPOHP:0012233
- Frequent (30% to 79% of cases)
- Reduced euglobulin clot lysis time
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.
- SERPINF2HGNC:9075
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
Where it sits
Other names
1 name
Resolves to: alpha-2-plasmin inhibitor deficiency
- Also called
- plasmin inhibitor deficiency