" /> Proprotein convertase 1/3 deficiency - CISMeF





Preferred Label : Proprotein convertase 1/3 deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Obesity and endocrinopathy due to impaired processing of prohormones;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the proprotein convertase 1 gene (PC1, 162150.0001);

Laboratory abnormalities : Increased plasma proinsulin; Decreased or normal plasma insulin; Increased plasma progastrin; Increased plasma proglucagon;

Prefixed ID : #600955;

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29/07/2025


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