Thrombophilia due to protein C deficiency, autosomal recessive - CISMeF
Thrombophilia due to protein C deficiency, autosomal recessiveOMIM Phenotype
Preferred Label : Thrombophilia due to protein C deficiency, autosomal recessive;
Symbol : THPH4;
CISMeF acronym : THPH4;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Protein C deficiency, autosomal recessive; Proc deficiency, autosomal recessive;
Description : Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous
PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder
or as a milder disorder with late-onset thrombophilia (Millar et al., 2000).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the protein C gene (PROC, 612283.0003);
Laboratory abnormalities : Plasma protein C deficiency;