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alpha-2-plasmin inhibitor deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

alpha-2-plasmin inhibitor deficiency

MONDO:0009883

Also known as:antiplasmin defiencyplasmin inhibitor deficiencyanti-plasmin deficiency, congenital

Overview

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.

GeneticsAutosomal recessive · SERPINF2 (chr 17)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Joint hemorrhage and Persistent bleeding after trauma; and common findings: Hemothorax, Blood in the urine (hematuria), Abnormal bleeding tendency (abnormal bleeding), and Intramuscular hematoma and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Persistent bleeding after trauma, Abnormal bleeding tendency (abnormal bleeding), Gingival bleeding

Genetic Landscape

SERPINF2 function has not been fully characterized.

Alpha-2-plasmin inhibitor deficiency is caused by mutations in the SERPINF2 gene on chromosome 17.

Diagnosis

Genetic testing for SERPINF2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 very common features, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for alpha-2-plasmin inhibitor deficiency.

3 publications have been identified in PubMed for alpha-2-plasmin inhibitor deficiency. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Murray A (2026). [PMID: 41076373](https://pubmed.ncbi.nlm.nih.gov/41076373/). *Journal of cardiothoracic and vascular anesthesia*. [Case Report / Case Series]
Kilpatrick K (2025). [PMID: 40470612](https://pubmed.ncbi.nlm.nih.gov/40470612/). *Journal of veterinary internal medicine*. [Basic Science / Preclinical]
Miyahara S (2025). [PMID: 40589561](https://pubmed.ncbi.nlm.nih.gov/40589561/). *Surgical case reports*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:262850

Orphanet

European rare disease database

Orphanet:79

GARD

Genetic and Rare Diseases Info Center

GARD:731

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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alpha-2-plasmin inhibitor deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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