MCID: PLS018
MIFTS: 42

Plasminogen Activator Inhibitor Type 1 Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Plasminogen Activator Inhibitor Type 1 Deficiency

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:48 613329

Aliases & Classifications for Plasminogen Activator Inhibitor Type 1 Deficiency

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS, 50Orphanet, 27ICD10 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):

50
congenital plasminogen activator inhibitor type 1 deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

plasminogen activator inhibitor type 1 deficiency 44 21 23
plasminogen activator inhibitor-1 deficiency 48 63
congenital plasminogen activator inhibitor type 1 deficiency 50
congenital pai-1 deficiency 50


External Ids:

OMIM48 613329
ICD10 via Orphanet27 D68.8

Related Diseases for Plasminogen Activator Inhibitor Type 1 Deficiency

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Plasminogen Activator Inhibitor Type 1 Deficiency

Drug clinical trials:

Search ClinicalTrials for Plasminogen Activator Inhibitor Type 1 Deficiency

Search NIH Clinical Center for Plasminogen Activator Inhibitor Type 1 Deficiency

Search CenterWatch for Plasminogen Activator Inhibitor Type 1 Deficiency

Genetic Tests for Plasminogen Activator Inhibitor Type 1 Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Plasminogen Activator Inhibitor Type 1 Deficiency:

id Genetic test Affiliating Genes
1 Plasminogen Activator Inhibitor-1 Deficiency21 SERPINE1
2 Plasminogen Activator Inhibitor Type 1 Deficiency23

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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53PubMed
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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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Sources:
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, 16Gene 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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Sources:
51PathCards, 61Thomson Reuters, 13EMD Millipore, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 54QIAGEN, 55R&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 regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.3PLAT, SERPINE1
39.3SERPINE1, PLAT
4
Show member pathways
thioredoxin pathway39
9.3SERPINE1, PLAT
59.3SERPINE1, PLAT
69.1KNG1, PLAT
7
Show member pathways
9.0KNG1, SERPINE1
8
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
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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Sources:
46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 25HMDB, 62Tocris 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 r1469.8PLAT, SERPINE1
2batroxobin469.7PLAT, SERPINE1
3eaca469.7PLAT, SERPINE1
4p-amino benzamidine469.7SERPINE1, PLAT
5ancrod469.7SERPINE1, PLAT
6chloramine t469.7PLAT, SERPINE1
7tranexamic acid46 1210.7PLAT, SERPINE1
8epsilon aminocaproic acid469.7PLAT, SERPINE1
9fucoidan469.7PLAT, SERPINE1
10hydrochlorothiazide46 30 52 25 1213.7PLAT, SERPINE1
11gemfibrozil30 46 1211.6SERPINE1, PLAT
12desmopressin46 62 30 1212.6PLAT, SERPINE1
13hirudin469.6PLAT, SERPINE1
14p005469.6SERPINE1, PLAT
15delapril469.6KNG1, PLAT
16protamine469.6PLAT, SERPINE1
17omapatrilat469.5KNG1, PLAT
18enalaprilat469.5PLAT, KNG1
19diltiazem46 30 52 1212.5KNG1, PLAT
20fluvastatin46 52 30 1212.4PLAT, SERPINE1
21eprosartan46 30 1211.4SERPINE1, KNG1
22ramipril46 1210.4SERPINE1, KNG1
23n(g)-nitro-l-arginine methyl ester469.4KNG1, SERPINE1
24nitroglycerin46 1210.4KNG1, PLAT
25candesartan46 52 30 1212.4KNG1, SERPINE1
26methacholine46 52 1211.3KNG1, PLAT
27p003469.3SERPINE1, PLAT
28troglitazone46 30 62 1212.3PLAT, SERPINE1
29thromboxane46 2510.3PLAT, KNG1
30homocysteine46 2510.2PLAT, SERPINE1
31thromboxane a246 2510.2KNG1, PLAT
32prostaglandin f2alpha469.2KNG1, SERPINE1
33atorvastatin46 52 30 25 1213.0PLAT, SERPINE1
34quinapril46 52 1211.0KNG1, PLAT, SERPINE1
35perindopril46 52 1211.0KNG1, PLAT, SERPINE1
36enalapril46 52 1211.0SERPINE1, PLAT, KNG1
37diisopropylfluorophosphate469.0KNG1, PLAT, SERPINE1
38kininogen469.0SERPINE1, PLAT, KNG1
39losartan46 52 30 1211.9KNG1, PLAT, SERPINE1
40pge1468.9KNG1, PLAT, SERPINE1
41aprotinin46 129.9SERPINE1, PLAT, KNG1
42sodium nitroprusside468.9SERPINE1, PLAT, KNG1
435-hydroxytryptamine468.9KNG1, PLAT, SERPINE1
44isoproterenol46 129.9KNG1, PLAT, SERPINE1
45prostacyclin468.9SERPINE1, PLAT, KNG1
46aspirin46 52 30 2511.9KNG1, PLAT, SERPINE1
47actinomycin d468.9KNG1, PLAT, SERPINE1
48heparin46 30 25 1211.9SERPINE1, PLAT, KNG1
49adenylate468.8SERPINE1, PLAT, KNG1
50cycloheximide468.8KNG1, PLAT, SERPINE1

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

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17Gene 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
  • Lysates
  • Antibodies

Sources for Plasminogen Activator Inhibitor Type 1 Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet