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MIRAGE
autosomal dominant thrombophilia due to protein C deficiency

Summary
Synonym
  • THPH3
  • autosomal dominant PROC deficiency
  • autosomal dominant protein C deficiency
Definition
A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3.
Super Class
protein C deficiency
Disease Ontology
DOID:0111909
Mondo Disease Ontology
MeSH
UMLS
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5624 PROC protein C, inactivator of coagulation factors Va and VIIIa
Displaying 1 entry
Gene ID Gene Symbol Description Source
19123 Proc protein C
Displaying 1 entry
Gene ID Gene Symbol Description Source
25268 Proc protein C, inactivator of coagulation factors Va and VIIIa
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025