MCID: CMP083
MIFTS: 17

Complete Plasminogen Activator Inhibitor 1 Deficiency

Aliases & Classifications for Complete Plasminogen Activator Inhibitor 1 Deficiency

MalaCards integrated aliases for Complete Plasminogen Activator Inhibitor 1 Deficiency:

Name: Complete Plasminogen Activator Inhibitor 1 Deficiency 24 25
Homozygous Pai-1 Deficiency 24 25
Complete Pai-1 Deficiency 24 25
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency 25
Plasminogen Activator Inhibitor Type 1 Deficiency 25
Hyperfibrinolysis Due to Pai1 Deficiency 25
Plasminogen Inhibitor-1 Deficiency 25
Quantitative Pai-1 Deficiency 25
Pai-1 Deficiency 25
Pai1 Deficiency 25
Pai-1d 25

Summaries for Complete Plasminogen Activator Inhibitor 1 Deficiency

Genetics Home Reference : 25 Complete plasminogen activator inhibitor 1 deficiency (complete PAI-1 deficiency) is a disorder that causes abnormal bleeding. In people with this disorder, bleeding associated with injury can be excessive and last longer than usual. Individuals with complete PAI-1 deficiency may experience prolonged nosebleeds, excessive bleeding after medical or dental procedures, easy bruising, and significant bleeding into the joints or soft tissues after even a minor injury. Internal bleeding after an injury, especially bleeding around the brain (intracranial hemorrhage), can be life-threatening. Affected females may have excessive bleeding associated with menstruation (menorrhagia) and abnormal bleeding in pregnancy and childbirth. In addition to bleeding problems, some people with complete PAI-1 deficiency develop scar tissue in the heart (cardiac fibrosis), which can lead to heart failure.

MalaCards based summary : Complete Plasminogen Activator Inhibitor 1 Deficiency, also known as homozygous pai-1 deficiency, is related to plasminogen activator inhibitor-1 deficiency and portal hypertension. An important gene associated with Complete Plasminogen Activator Inhibitor 1 Deficiency is SERPINE1 (Serpin Family E Member 1). The drugs Thrombin and Serine have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and kidney.

GeneReviews: NBK447152

Related Diseases for Complete Plasminogen Activator Inhibitor 1 Deficiency

Diseases related to Complete Plasminogen Activator Inhibitor 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 plasminogen activator inhibitor-1 deficiency 10.0
2 portal hypertension 10.0
3 liver cirrhosis 10.0
4 renal fibrosis 9.8
5 ureteral obstruction 9.8
6 hemophilia 9.8

Graphical network of the top 20 diseases related to Complete Plasminogen Activator Inhibitor 1 Deficiency:



Diseases related to Complete Plasminogen Activator Inhibitor 1 Deficiency

Symptoms & Phenotypes for Complete Plasminogen Activator Inhibitor 1 Deficiency

Drugs & Therapeutics for Complete Plasminogen Activator Inhibitor 1 Deficiency

Drugs for Complete Plasminogen Activator Inhibitor 1 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational
2
Serine Approved, Nutraceutical 56-45-1 5951
3 Hemostatics
4 Fibrinolytic Agents
5
protease inhibitors
6 HIV Protease Inhibitors
7 alpha-2-Antiplasmin
8 Serine Proteinase Inhibitors
9 Antifibrinolytic Agents
10 Plasminogen Activator Inhibitor 1
11 polysaccharide-K
12 Plasminogen
13 Plasminogen Inactivators

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Bleeding Disorders in the Netherlands Recruiting NCT03347591

Search NIH Clinical Center for Complete Plasminogen Activator Inhibitor 1 Deficiency

Genetic Tests for Complete Plasminogen Activator Inhibitor 1 Deficiency

Anatomical Context for Complete Plasminogen Activator Inhibitor 1 Deficiency

MalaCards organs/tissues related to Complete Plasminogen Activator Inhibitor 1 Deficiency:

41
Heart, Brain, Kidney, Endothelial

Publications for Complete Plasminogen Activator Inhibitor 1 Deficiency

Articles related to Complete Plasminogen Activator Inhibitor 1 Deficiency:

(show all 17)
# Title Authors PMID Year
1
The obstetric, gynaecological and fertility implications of homozygous PAI-1 deficiency: single-centre experience. 38 4
24261743 2014
2
Life-threatening hemorrhage and prolonged wound healing are remarkable phenotypes manifested by complete plasminogen activator inhibitor-1 deficiency in humans. 38 4
21486382 2011
3
Plasminogen Activator Inhibitor-1 Polymorphism Confers a Genetic Contribution to the Risk of Recurrent Spontaneous Abortion: An Updated Meta-Analysis. 4
28395596 2017
4
Plasminogen Activator Inhibitor Type I Controls Cardiomyocyte Transforming Growth Factor-β and Cardiac Fibrosis. 4
28588076 2017
5
Total hip arthroplasty and total knee arthroplasty in a patient with congenital deficiency of plasminogen activator inhibitor-1. 4
27030314 2016
6
Global gene expression profiling in PAI-1 knockout murine heart and kidney: molecular basis of cardiac-selective fibrosis. 4
23724005 2013
7
The first report of uncontrollable subchorionic and retroplacental haemorrhage inducing preterm labour in complete PAI-1 deficiency in a human. 4
22099705 2012
8
Genetic deficiency of plasminogen activator inhibitor-1 promotes cardiac fibrosis in aged mice: involvement of constitutive transforming growth factor-beta signaling and endothelial-to-mesenchymal transition. 4
20823384 2010
9
Plasminogen activator inhibitor type 1 deficiency. 4
19141166 2008
10
A case of deficiency of plasma plasminogen activator inhibitor-1 related to Ala15Thr mutation in its signal peptide. 4
15650551 2005
11
Plasminogen-activator inhibitor type 1 and coronary artery disease. 4
10853003 2000
12
Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency. 4
10754381 1999
13
Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene. 4
9207454 1997
14
Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation. 4
1435917 1992
15
A lifelong bleeding disorder associated with a deficiency of plasminogen activator inhibitor type 1. 4
1899347 1991
16
Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor. 4
2496147 1989
17
Complete Plasminogen Activator Inhibitor 1 Deficiency 38
28771291 2017

Variations for Complete Plasminogen Activator Inhibitor 1 Deficiency

Expression for Complete Plasminogen Activator Inhibitor 1 Deficiency

Search GEO for disease gene expression data for Complete Plasminogen Activator Inhibitor 1 Deficiency.

Pathways for Complete Plasminogen Activator Inhibitor 1 Deficiency

GO Terms for Complete Plasminogen Activator Inhibitor 1 Deficiency

Sources for Complete Plasminogen Activator Inhibitor 1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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