Preferred Label : Protein z deficiency;
Type : Phenotype, molecular basis known;
Description : Protein Z serves as a cofactor for the downregulation of coagulation by forming a
complex with the protein Z-dependent protease inhibitor (ZPI; 605271). Evidence also
suggests that protein Z may promote the assembly of thrombin with phospholipid surfaces,
thus enhancing coagulation. There is a wide variation of protein Z levels in human
plasma, and studies have reported conflicting results of the clinical consequences
of protein Z deficiency in humans. Most studies have reported an association between
decreased protein Z levels and thrombosis, including stroke, venous thrombosis, and
obstetric complications, although early reports suggested an association between protein
Z deficiency and bleeding tendency (Kemkes-Matthes and Matthes, 1995). Overall, a
role for protein Z in the pathogenesis of hemostatic disorders in humans is controversial
and remains unclear (review by Broze, 2001 and Vasse, 2008). Protein Z deficiency
has been shown to exacerbate the thrombotic phenotype in patients with thrombophilia
due to factor V Leiden (see 188055).;
Prefixed ID : #614024;
Origin ID : 614024;
UMLS CUI : C3151465;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- Semantic type(s)
