Plasminogen Deficiency

Pattern of Inheritance

Type I plasminogen deficiency is an autosomal recessive condition with variable penetrance, even within families.^15,16 As previously stated, the genetic mutation does not necessarily predict clinical phenotype.¹⁶ It appears that most type II deficiencies are also autosomal recessive.

At this time, genetic testing is performed in a research setting and is not widely clinically available. Please see the Research section for details of ongoing clinical studies, including those designed to investigate the natural history of the disease.

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