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

Thrombophilia due to protein C deficiency, autosomal recessive

Synonyms
PROC DEFICIENCY, AUTOSOMAL RECESSIVE; PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive

Summary

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). [from OMIM]

Available tests

32 tests are in the database for this condition.

Clinical tests (32 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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