DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for alpha-2-plasmin inhibitor deficiency

Alpha-2-plasmin inhibitor deficiency [DOID:0060601]

A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.

Synonyms:  alpha-2-plasmin inhibitor deficiency,  DOID:0060601,  alpha2plasmin inhibitor deficiency,  antiplasmin defiency,  plasmin inhibitor deficiency ...