MCID: PRT130
MIFTS: 25

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 40 73
Protein Z 13

Classifications:



External Ids:

OMIM 57 614024
UMLS 73 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)

MalaCards based summary : Protein Z Deficiency, also known as protein z, is related to thrombosis and thrombophilia. 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, and related phenotype is cardiovascular system.

Related Diseases for Protein Z Deficiency

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 thrombosis 29.0 F10 SERPINA10
2 thrombophilia 28.3 F10 SERPINA10
3 thrombophilia due to thrombin defect 9.9
4 cerebritis 9.9
5 arteries, anomalies of 9.9
6 ischemia 9.9
7 myocardial infarction 9.8
8 peripheral artery disease 9.8
9 breast cancer 9.7
10 small cell cancer of the lung 9.7
11 lung cancer 9.7
12 pancreatic cancer 9.7
13 gastric cancer 9.7
14 leukemia 9.7
15 essential thrombocythemia 9.7
16 pancreatitis 9.7
17 kidney disease 9.7
18 endotheliitis 9.7
19 moyamoya disease 1 9.7
20 spinal cord injury 9.7
21 ovarian cancer 9.6
22 lymphoma, hodgkin, classic 9.6
23 stroke, ischemic 9.6

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

MGI Mouse Phenotypes related to Protein Z Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 F10 PROZ SERPINA10

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:

41
Spinal Cord

Publications for Protein Z Deficiency

Articles related to Protein Z Deficiency:

(show all 13)
# Title Authors Year
1
Postpartum Ischemic Stroke in Moyamoya Disease Associated with Protein Z Deficiency-A Case Report. ( 27425767 )
2016
2
Protein Z-deficiency is associated with enhanced neointima formation and inflammatory response after vascular injury in mice. ( 25337252 )
2014
3
[Protein Z deficiency in unexplained affinity to thromboses, bleedings or abortions]. ( 22960740 )
2012
4
Protein Z-dependent protease inhibitor deficiency produces a more severe murine phenotype than protein Z deficiency. ( 18344422 )
2008
5
Protein-Z-deficiency as a rare case of unexpected perioperative bleeding in a patient with spinal cord injury. ( 16389266 )
2006
6
Protein Z deficiency in antiphospholipid-negative Sneddon's syndrome. ( 15105516 )
2004
7
Plasma protein Z deficiency is common in women with antiphospholipid antibodies. ( 12614233 )
2003
8
High frequency of protein Z deficiency in patients with unexplained early fetal loss. ( 11895801 )
2002
9
Frequency of protein Z deficiency in patients with ischaemic stroke. ( 11289354 )
2001
10
Frequency of protein Z deficiency in patients with ischaemic stroke. ( 11570404 )
2001
11
Prothrombotic phenotype of protein Z deficiency. ( 10829076 )
2000
12
Prothrombin complex concentrate contains protein Z and prevents bleeding in a patient with protein Z deficiency. ( 8571337 )
1995
13
Protein Z deficiency: a new cause of bleeding tendency. ( 7495103 )
1995

Variations for Protein Z Deficiency

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 9.33 F10 PROZ SERPINA10
2 Golgi lumen GO:0005796 8.96 F10 PROZ
3 endoplasmic reticulum lumen GO:0005788 8.8 F10 PROZ SERPINA10

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

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.32 F10 PROZ
2 signal peptide processing GO:0006465 9.26 F10 PROZ
3 peptidyl-glutamic acid carboxylation GO:0017187 9.16 F10 PROZ
4 blood coagulation GO:0007596 9.13 F10 PROZ SERPINA10
5 hemostasis GO:0007599 8.8 F10 PROZ SERPINA10

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 F10 PROZ

Sources for Protein Z Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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