MCID: PRT130
MIFTS: 23

Protein Z Deficiency

Categories: Genetic diseases

Aliases & Classifications for Protein Z Deficiency

MalaCards integrated aliases for Protein Z Deficiency:

Name: Protein Z Deficiency 57 29 6 39 70

Classifications:



External Ids:

OMIM® 57 614024
UMLS 70 C3151465

Summaries for Protein Z Deficiency

OMIM® : 57 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). (614024) (Updated 20-May-2021)

MalaCards based summary : Protein Z Deficiency is related to thrombophilia and thrombosis. An important gene associated with Protein Z Deficiency is PROZ (Protein Z, Vitamin K Dependent Plasma Glycoprotein), and among its related pathways/superpathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Warfarin Pathway, Pharmacodynamics. Affiliated tissues include spinal cord, endothelial and placenta.

Related Diseases for Protein Z Deficiency

Diseases related to Protein Z Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 thrombophilia 29.3 SERPINA10 F10
2 thrombosis 29.2 SERPINA10 F10
3 paraplegia 10.0
4 von willebrand disease, type 1 9.9
5 moyamoya disease 1 9.9
6 scoliosis 9.9
7 von willebrand's disease 9.9
8 vascular disease 9.9
9 lipid metabolism disorder 9.9
10 protein c deficiency 9.9
11 placental insufficiency 9.9
12 placenta disease 9.9
13 raynaud phenomenon 9.9
14 spinal cord injury 9.9
15 stroke, ischemic 9.6 PROZ F10

Graphical network of the top 20 diseases related to Protein Z Deficiency:



Diseases related to Protein Z Deficiency

Symptoms & Phenotypes for Protein Z Deficiency

Clinical features from OMIM®:

614024 (Updated 20-May-2021)

Drugs & Therapeutics for Protein Z Deficiency

Search Clinical Trials , NIH Clinical Center for Protein Z Deficiency

Genetic Tests for Protein Z Deficiency

Genetic tests related to Protein Z Deficiency:

# Genetic test Affiliating Genes
1 Protein Z Deficiency 29 PROZ

Anatomical Context for Protein Z Deficiency

MalaCards organs/tissues related to Protein Z Deficiency:

40
Spinal Cord, Endothelial, Placenta

Publications for Protein Z Deficiency

Articles related to Protein Z Deficiency:

(show all 43)
# Title Authors PMID Year
1
A naturally occurring E30Q mutation in the Gla domain of protein Z causes its impaired secretion and subsequent deficiency. 57 6
15626740 2005
2
A meta-analysis of potential risks of low levels of protein Z for diseases related to vascular thrombosis. 57 61
20076855 2010
3
Protein Z, a protein seeking a pathology. 57 61
18841275 2008
4
High frequency of protein Z deficiency in patients with unexplained early fetal loss. 57 61
11895801 2002
5
Frequency of protein Z deficiency in patients with ischaemic stroke. 57 61
11289354 2001
6
Prothrombotic phenotype of protein Z deficiency. 57 61
10829076 2000
7
Protein Z deficiency: a new cause of bleeding tendency. 57 61
7495103 1995
8
Low protein Z levels and risk of occurrence of deep vein thrombosis. 57
16938126 2006
9
A common polymorphism of the protein Z gene is associated with protein Z plasma levels and with risk of cerebral ischemia in the young. 57
14671240 2004
10
Protein Z-dependent regulation of coagulation. 57
11487045 2001
11
Protein Z in healthy human individuals and in patients with a bleeding tendency. 57
9753048 1998
12
Bleeding tendency of unknown origin and protein Z levels. 57
9700859 1998
13
The Relationship between Z-Protein Level and other Parameters in Pregnant Women with Intrauterine Growth Retardation in Third Trimester. 61
31625376 2019
14
Postpartum Ischemic Stroke in Moyamoya Disease Associated with Protein Z Deficiency-A Case Report. 61
27425767 2016
15
Protein Z-deficiency is associated with enhanced neointima formation and inflammatory response after vascular injury in mice. 61
25337252 2014
16
Contribution of protein Z and protein Z-dependent protease inhibitor in generalized Shwartzman reaction. 61
23963134 2013
17
Plasma concentration of protein Z and protein Z-dependent protease inhibitor in patients with haemophilia A. 61
23269381 2013
18
[Protein Z deficiency in unexplained affinity to thromboses, bleedings or abortions]. 61
22960740 2012
19
Pyelonephritis during pregnancy: a cause for an acquired deficiency of protein Z. 61
18828054 2008
20
Protein Z-dependent protease inhibitor deficiency produces a more severe murine phenotype than protein Z deficiency. 61
18344422 2008
21
Congenital bleeding disorders of the vitamin K-dependent clotting factors. 61
18374200 2008
22
Preeclampsia is associated with low concentrations of protein Z. 61
17701666 2007
23
Protein-Z-deficiency as a rare case of unexpected perioperative bleeding in a patient with spinal cord injury. 61
16389266 2006
24
[Protein Z: a new factor of thrombophilia?]. 61
16137798 2005
25
Protein Z in patients with pregnancy complications. 61
16260213 2005
26
Protein Z levels and central retinal vein or artery occlusion. 61
16191090 2005
27
Protein Z in normal pregnancy. 61
15841316 2005
28
Screening and management of inherited thrombophilias in the setting of adverse pregnancy outcome. 61
15519428 2004
29
Protein Z levels and unexplained fetal losses. 61
15482789 2004
30
[Protein Z: a new regulator of coagulation in arterial vessels?]. 61
15314579 2004
31
Protein Z deficiency in antiphospholipid-negative Sneddon's syndrome. 61
15105516 2004
32
Low-molecular-weight heparin versus low-dose aspirin in women with one fetal loss and a constitutional thrombophilic disorder. 61
14739212 2004
33
Protein Z: "light and shade" of a new thrombotic factor. 61
15575306 2004
34
[Protein Z]. 61
15058266 2003
35
[Protein-z-deficiency as a rare case of perioperative bleeding]. 61
12975741 2003
36
Low plasma protein Z levels in patients with ischemic colitis. 61
14560981 2003
37
Plasma protein Z deficiency is common in women with antiphospholipid antibodies. 61
12614233 2003
38
Markers of endothelial cell injury and thrombin activatable fibrinolysis inhibitor in nephrotic syndrome. 61
12439147 2002
39
Protein Z. 61
11668427 2001
40
Frequency of protein Z deficiency in patients with ischaemic stroke. 61
11570404 2001
41
Fechtner's syndrome: considerations of anesthetic management. 61
10825323 2000
42
Protein Z, a new haemostatic factor, in liver diseases. 61
8586323 1995
43
Prothrombin complex concentrate contains protein Z and prevents bleeding in a patient with protein Z deficiency. 61
8571337 1995

Variations for Protein Z Deficiency

ClinVar genetic disease variations for Protein Z Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROZ E30Q SNV Affects 29850 GRCh37:
GRCh38:

Expression for Protein Z Deficiency

Search GEO for disease gene expression data for Protein Z Deficiency.

Pathways for Protein Z Deficiency

GO Terms for Protein Z Deficiency

Cellular components related to Protein Z Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 SERPINA10 PROZ F10
2 extracellular space GO:0005615 9.33 SERPINA10 PROZ F10
3 Golgi lumen GO:0005796 8.96 PROZ F10
4 endoplasmic reticulum lumen GO:0005788 8.8 SERPINA10 PROZ F10

Biological processes related to Protein Z Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.26 PROZ F10
2 ER to Golgi vesicle-mediated transport GO:0006888 9.16 PROZ F10
3 blood coagulation GO:0007596 9.13 SERPINA10 PROZ F10
4 hemostasis GO:0007599 8.8 SERPINA10 PROZ F10

Molecular functions related to Protein Z Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.62 PROZ F10

Sources for Protein Z Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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