Variants
Sign InSign Up

Thrombophilia due to protein C deficiency, autosomal dominant

Your Results

Sign In

Description

Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

120

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    176860

  • Orphanet
  • HPO
  • Medgen

    C2674321

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.