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GTR Home > Conditions/Phenotypes > Alpha-2-plasmin inhibitor deficiency

Alpha-2-plasmin inhibitor deficiency

Synonyms
ANTIPLASMIN DEFICIENCY; Anti-plasmin deficiency, congenital; PLASMIN INHIBITOR DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Alpha-2-plasmin inhibitor deficiency is a rare autosomal recessive hemorrhagic diathesis. Most bleeds are severe, appear during childhood, and, in a few cases, umbilical bleeding is the first manifestation. Some homozygous patients present only moderate bleeding (Favier et al., 2001). [from OMIM]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A2AP, AAP, ALPHA-2-PI, API, PLI, alpha2AP, SERPINF2
    Summary: serpin family F member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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