MCID: PLS018
MIFTS: 42

Plasminogen Activator Inhibitor Type 1 Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Plasminogen Activator Inhibitor Type 1 Deficiency

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Plasminogen activator inhibitor type 1 (pai-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. while spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. in females, menstrual bleeding is often severe. prolonged bleeding after surgery is also common.  pai-1 deficiency is caused by homozygous or compound heterozygous mutation in the serpine1 gene.  fibrinolysis inhibitors, including epsilon-aminocaproic acid and tranexamic acid, are usually effective in treating and preventing bleeding episodes. last updated: 1/19/2012

MalaCards: Plasminogen Activator Inhibitor Type 1 Deficiency, also known as plasminogen activator inhibitor-1 deficiency, is related to osteogenesis imperfecta and central retinal artery occlusion. An important gene associated with Plasminogen Activator Inhibitor Type 1 Deficiency is SERPINE1 (serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1), and among its related pathways are Cell adhesion ECM remodeling and Translation Insulin regulation of translation. The compounds notoginsenoside r1 and batroxobin have been mentioned in the context of this disorder.

Description from OMIM:47 613329

Aliases & Classifications for Plasminogen Activator Inhibitor Type 1 Deficiency

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43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 62UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
congenital plasminogen activator inhibitor type 1 deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

plasminogen activator inhibitor type 1 deficiency 43 20 22
plasminogen activator inhibitor-1 deficiency 47 62
congenital plasminogen activator inhibitor type 1 deficiency 49
congenital pai-1 deficiency 49


External Ids:

OMIM47 613329
ICD10 via Orphanet26 D68.8

Related Diseases for Plasminogen Activator Inhibitor Type 1 Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Plasminogen Activator Inhibitor Type 1 Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta10.3
2central retinal artery occlusion10.1PLAT
3central retinal vein occlusion10.1PLAT
4hepatic vein thrombosis10.0SERPINE1, PLAT
5hemorrhagic disease10.0PLAT, SERPINE1
6coronary thrombosis10.0PLAT, SERPINE1
7stroke, ischemic10.0SERPINE1, PLAT
8thrombophilia10.0PLAT, SERPINE1
9disseminated intravascular coagulation10.0SERPINE1, PLAT
10thromboembolism10.0SERPINE1, PLAT
11venous thrombosis10.0PLAT, SERPINE1
12hypertriglyceridemia10.0PLAT, SERPINE1
13acute myocardial infarction10.0SERPINE1, PLAT
14angioedema10.0PLAT, KNG1
15coronary artery disease10.0PLAT, SERPINE1
16type 2 diabetes mellitus10.0SERPINE1, PLAT
17cerebrovascular disease10.0SERPINE1, PLAT
18renal fibrosis10.0KNG1, SERPINE1
19insulin resistance10.0SERPINE1, PLAT
20septic shock10.0SERPINE1, KNG1
21hypercholesterolemia10.0SERPINE1, KNG1
22congenital heart disease10.0KNG1, SERPINE1
23diabetic nephropathy10.0SERPINE1, KNG1
24obesity10.0KNG1, SERPINE1
25primary hyperoxaluria9.9SERPINE1, KNG1
26hyperhomocysteinemia9.9SERPINE1, PLAT, KNG1
27essential hypertension9.9PLAT, SERPINE1, KNG1
28hypertension9.9SERPINE1, PLAT, KNG1
29vascular disease9.9SERPINE1, PLAT, KNG1
30factor v leiden thrombophilia9.9PLAT, KNG1, SERPINE1
31pre-eclampsia9.9PLAT, SERPINE1, KNG1
32myocardial infarction9.9KNG1, SERPINE1, PLAT
33diabetes mellitus9.9KNG1, PLAT, SERPINE1
34atherosclerosis9.9KNG1, PLAT, SERPINE1
35ischemia9.9PLAT, KNG1

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



Diseases related to plasminogen activator inhibitor type 1 deficiency

Symptoms for Plasminogen Activator Inhibitor Type 1 Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

613329

Clinical features from OMIM:

613329

Drugs & Therapeutics for Plasminogen Activator Inhibitor Type 1 Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Plasminogen Activator Inhibitor Type 1 Deficiency

Search NIH Clinical Center for Plasminogen Activator Inhibitor Type 1 Deficiency

Genetic Tests for Plasminogen Activator Inhibitor Type 1 Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Plasminogen Activator Inhibitor Type 1 Deficiency:

id Genetic test Affiliating Genes
1 Plasminogen Activator Inhibitor-1 Deficiency20 SERPINE1
2 Plasminogen Activator Inhibitor Type 1 Deficiency22

Anatomical Context for Plasminogen Activator Inhibitor Type 1 Deficiency

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Animal Models for Plasminogen Activator Inhibitor Type 1 Deficiency or affiliated genes

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Publications for Plasminogen Activator Inhibitor Type 1 Deficiency

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52PubMed
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Articles related to Plasminogen Activator Inhibitor Type 1 Deficiency:

idTitleAuthorsYear
1
Pregnancy complicated by plasminogen activator inhibitor type 1 deficiency. (21037516)
2010
2
Plasminogen activator inhibitor type 1 deficiency. (19141166)
2008
3
Hyperfibrinolysis in alcoholic cirrhosis: relative plasminogen activator inhibitor type 1 deficiency. (17870147)
2008

Variations for Plasminogen Activator Inhibitor Type 1 Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Plasminogen Activator Inhibitor Type 1 Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1SERPINE1SERPINE1, 2-BP INS, 4977TAinsertionPathogenic/card/plasminogen_activator_inhibitor_type_1_deficiency
2SERPINE1NM_000602.4(SERPINE1): c.43G> A (p.Ala15Thr)single nucleotide variantPathogenicrs6092GRCh37Chr 7, 100771717: 100771717

Expression for genes affiliated with Plasminogen Activator Inhibitor Type 1 Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Plasminogen Activator Inhibitor Type 1 Deficiency

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

Pathways for genes affiliated with Plasminogen Activator Inhibitor Type 1 Deficiency

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50PathCards, 60Thomson Reuters, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 53QIAGEN, 54R&D Systems
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Pathways related to Plasminogen Activator Inhibitor Type 1 Deficiency according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3PLAT, SERPINE1
2
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.3PLAT, SERPINE1
39.3SERPINE1, PLAT
4
Show member pathways
thioredoxin pathway38
9.3SERPINE1, PLAT
59.3SERPINE1, PLAT
69.1KNG1, PLAT
7
Show member pathways
9.0KNG1, SERPINE1
8
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
8.5KNG1, PLAT, SERPINE1
9
Show member pathways
8.5KNG1, PLAT, SERPINE1
10
Show member pathways
8.5KNG1, PLAT, SERPINE1
11
Show member pathways
8.5KNG1, PLAT, SERPINE1

Compounds for genes affiliated with Plasminogen Activator Inhibitor Type 1 Deficiency

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45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Plasminogen Activator Inhibitor Type 1 Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1notoginsenoside r1459.8PLAT, SERPINE1
2batroxobin459.7PLAT, SERPINE1
3eaca459.7PLAT, SERPINE1
4p-amino benzamidine459.7SERPINE1, PLAT
5ancrod459.7SERPINE1, PLAT
6chloramine t459.7PLAT, SERPINE1
7tranexamic acid45 1110.7PLAT, SERPINE1
8epsilon aminocaproic acid459.7PLAT, SERPINE1
9fucoidan459.7PLAT, SERPINE1
10hydrochlorothiazide45 29 51 24 1113.7PLAT, SERPINE1
11gemfibrozil29 45 1111.6SERPINE1, PLAT
12desmopressin45 61 29 1112.6PLAT, SERPINE1
13hirudin459.6PLAT, SERPINE1
14p005459.6SERPINE1, PLAT
15delapril459.6KNG1, PLAT
16protamine459.6PLAT, SERPINE1
17omapatrilat459.5KNG1, PLAT
18enalaprilat459.5PLAT, KNG1
19diltiazem45 29 51 1112.5KNG1, PLAT
20fluvastatin45 51 29 1112.4PLAT, SERPINE1
21eprosartan45 29 1111.4SERPINE1, KNG1
22ramipril45 1110.4SERPINE1, KNG1
23n(g)-nitro-l-arginine methyl ester459.4KNG1, SERPINE1
24nitroglycerin45 1110.4KNG1, PLAT
25candesartan45 51 29 1112.4KNG1, SERPINE1
26methacholine45 51 1111.3KNG1, PLAT
27p003459.3SERPINE1, PLAT
28troglitazone45 29 61 1112.3PLAT, SERPINE1
29thromboxane45 2410.3PLAT, KNG1
30homocysteine45 2410.2PLAT, SERPINE1
31thromboxane a245 2410.2KNG1, PLAT
32prostaglandin f2alpha459.2KNG1, SERPINE1
33atorvastatin45 51 29 24 1113.0PLAT, SERPINE1
34quinapril45 51 1111.0KNG1, PLAT, SERPINE1
35perindopril45 51 1111.0KNG1, PLAT, SERPINE1
36enalapril45 51 1111.0SERPINE1, PLAT, KNG1
37diisopropylfluorophosphate459.0KNG1, PLAT, SERPINE1
38kininogen459.0SERPINE1, PLAT, KNG1
39losartan45 51 29 1111.9KNG1, PLAT, SERPINE1
40pge1458.9KNG1, PLAT, SERPINE1
41aprotinin45 119.9SERPINE1, PLAT, KNG1
42sodium nitroprusside458.9SERPINE1, PLAT, KNG1
435-hydroxytryptamine458.9KNG1, PLAT, SERPINE1
44isoproterenol45 119.9KNG1, PLAT, SERPINE1
45prostacyclin458.9SERPINE1, PLAT, KNG1
46aspirin45 51 29 2411.9KNG1, PLAT, SERPINE1
47actinomycin d458.9KNG1, PLAT, SERPINE1
48heparin45 29 24 1111.9SERPINE1, PLAT, KNG1
49adenylate458.8SERPINE1, PLAT, KNG1
50cycloheximide458.8KNG1, PLAT, SERPINE1

GO Terms for genes affiliated with Plasminogen Activator Inhibitor Type 1 Deficiency

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16Gene Ontology
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Cellular components related to Plasminogen Activator Inhibitor Type 1 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.3PLAT, SERPINE1
2platelet alpha granule lumenGO:0310938.9KNG1, SERPINE1
3extracellular regionGO:0055768.2KNG1, PLAT, SERPINE1

Biological processes related to Plasminogen Activator Inhibitor Type 1 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibrinolysisGO:0427309.3PLAT, SERPINE1
2negative regulation of blood coagulationGO:0301959.1KNG1, SERPINE1
3platelet activationGO:0301689.0KNG1, SERPINE1
4platelet degranulationGO:0025768.7KNG1, SERPINE1
5blood coagulationGO:0075968.4SERPINE1, PLAT, KNG1

Molecular functions related to Plasminogen Activator Inhibitor Type 1 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051029.0KNG1, SERPINE1

Products for genes affiliated with Plasminogen Activator Inhibitor Type 1 Deficiency

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Plasminogen Activator Inhibitor Type 1 Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet