" /> Thrombophilia due to protein C deficiency, autosomal recessive - CISMeF





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;

Prefixed ID : #612304;

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03/05/2025


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