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thrombophilia due to activated protein C resistance
Summary
- Synonym
-
- APC resistance
- PCCF deficiency
- PROC cofactor deficiency
- THPH2
- activated protein C resistance
- thrombophilia V
- thrombophilia due to deficiency of activated protein C cofactor
- Definition
- A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2.
- Super Class
- autosomal dominant disease thrombophilia
External Links
- Disease Ontology
- DOID:0111902
- MeSH
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04070 | Vitamin K-dependent protein C | |
| P12259 | Coagulation factor V |
