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GTR Home > Conditions/Phenotypes > Thrombophilia due to protein C deficiency, autosomal dominant

Thrombophilia due to protein C deficiency, autosomal dominant

Synonyms
PROC DEFICIENCY, AUTOSOMAL DOMINANT; PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; Protein C Deficiency; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant

Summary

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. [from OMIM]

Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APC, PC, PROC1, THPH3, THPH4, PROC
    Summary: protein C, inactivator of coagulation factors Va and VIIIa

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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