MCID: PLS018
MIFTS: 43

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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NIH Rare Diseases:42 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 based summary: Plasminogen Activator Inhibitor Type 1 Deficiency, also known as plasminogen activator inhibitor-1 deficiency, is related to central retinal artery occlusion and central retinal vein occlusion, and has symptoms including 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:46 613329

Aliases & Classifications for Plasminogen Activator Inhibitor Type 1 Deficiency

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Plasminogen Activator Inhibitor Type 1 Deficiency, Aliases & Descriptions:

Name: Plasminogen Activator Inhibitor Type 1 Deficiency 42 20 22
Plasminogen Activator Inhibitor-1 Deficiency 46 62
 
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency 48
Congenital Pai-1 Deficiency 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital plasminogen activator inhibitor type 1 deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM46 613329
ICD10 via Orphanet26 D68.8

Related Diseases for Plasminogen Activator Inhibitor Type 1 Deficiency

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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
1central retinal artery occlusion10.4PLAT
2central retinal vein occlusion10.4PLAT
3osteogenesis imperfecta10.3
4hepatic vein thrombosis10.1PLAT, SERPINE1
5hemorrhagic disease10.1PLAT, SERPINE1
6coronary thrombosis10.1PLAT, SERPINE1
7stroke, ischemic10.1PLAT, SERPINE1
8thrombophilia10.1SERPINE1, PLAT
9disseminated intravascular coagulation10.1PLAT, SERPINE1
10thromboembolism10.1PLAT, SERPINE1
11venous thrombosis10.1SERPINE1, PLAT
12hypertriglyceridemia10.1PLAT, SERPINE1
13acute myocardial infarction10.1PLAT, SERPINE1
14angioedema10.0KNG1, PLAT
15coronary artery anomaly10.0SERPINE1, PLAT
16type 2 diabetes mellitus10.0PLAT, SERPINE1
17cerebrovascular disease10.0SERPINE1, PLAT
18renal fibrosis10.0KNG1, SERPINE1
19insulin resistance10.0PLAT, SERPINE1
20septic shock10.0KNG1, SERPINE1
21hypercholesterolemia9.9SERPINE1, KNG1
22congenital heart disease9.9KNG1, SERPINE1
23diabetic nephropathy9.9KNG1, SERPINE1
24obesity9.8KNG1, SERPINE1
25primary hyperoxaluria9.8KNG1, SERPINE1
26hyperhomocysteinemia9.8SERPINE1, PLAT, KNG1
27essential hypertension9.8KNG1, PLAT, SERPINE1
28hypertension9.8KNG1, PLAT, SERPINE1
29vascular disease9.8KNG1, PLAT, SERPINE1
30factor v leiden thrombophilia9.8KNG1, PLAT, SERPINE1
31pre-eclampsia9.8KNG1, PLAT, SERPINE1
32myocardial infarction9.8KNG1, PLAT, SERPINE1
33diabetes mellitus9.8SERPINE1, PLAT, KNG1
34atherosclerosis9.8KNG1, PLAT, SERPINE1
35ischemia9.8KNG1, PLAT

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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Symptoms by clinical synopsis from OMIM:

613329

Clinical features from OMIM:

613329

HPO human phenotypes related to Plasminogen Activator Inhibitor Type 1 Deficiency:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 menorrhagia HP:0000132
4 congenital onset HP:0003577

Drugs & Therapeutics for Plasminogen Activator Inhibitor Type 1 Deficiency

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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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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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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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Clinvar genetic disease variations for Plasminogen Activator Inhibitor Type 1 Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1SERPINE1SERPINE1, 2-BP INS, 4977TAinsertionPathogenic
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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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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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 events37
ErbB2/ErbB3 signaling events37
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 pathway37
9.3SERPINE1, PLAT
59.3SERPINE1, PLAT
69.1KNG1, PLAT
7
Show member pathways
9.0KNG1, SERPINE1
8
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
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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Compounds related to Plasminogen Activator Inhibitor Type 1 Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1notoginsenoside r1449.8PLAT, SERPINE1
2batroxobin449.7PLAT, SERPINE1
3eaca449.7PLAT, SERPINE1
4p-amino benzamidine449.7SERPINE1, PLAT
5ancrod449.7SERPINE1, PLAT
6chloramine t449.7PLAT, SERPINE1
7tranexamic acid44 1110.7PLAT, SERPINE1
8epsilon aminocaproic acid449.7PLAT, SERPINE1
9fucoidan449.7PLAT, SERPINE1
10hydrochlorothiazide44 28 50 24 1113.7PLAT, SERPINE1
11gemfibrozil28 44 1111.6SERPINE1, PLAT
12desmopressin44 61 28 1112.6PLAT, SERPINE1
13hirudin449.6PLAT, SERPINE1
14p005449.6SERPINE1, PLAT
15delapril449.6KNG1, PLAT
16protamine449.6PLAT, SERPINE1
17omapatrilat449.5KNG1, PLAT
18enalaprilat449.5PLAT, KNG1
19diltiazem44 28 50 1112.5KNG1, PLAT
20fluvastatin44 50 28 1112.4PLAT, SERPINE1
21eprosartan44 28 1111.4SERPINE1, KNG1
22ramipril44 1110.4SERPINE1, KNG1
23n(g)-nitro-l-arginine methyl ester449.4KNG1, SERPINE1
24nitroglycerin44 1110.4KNG1, PLAT
25candesartan44 50 28 1112.4KNG1, SERPINE1
26methacholine44 50 1111.3KNG1, PLAT
27p003449.3SERPINE1, PLAT
28troglitazone44 28 61 1112.3PLAT, SERPINE1
29thromboxane44 2410.3PLAT, KNG1
30homocysteine44 2410.2PLAT, SERPINE1
31thromboxane a244 2410.2KNG1, PLAT
32prostaglandin f2alpha449.2KNG1, SERPINE1
33atorvastatin44 50 28 24 1113.0PLAT, SERPINE1
34quinapril44 50 1111.0KNG1, PLAT, SERPINE1
35perindopril44 50 1111.0KNG1, PLAT, SERPINE1
36enalapril44 50 1111.0SERPINE1, PLAT, KNG1
37diisopropylfluorophosphate449.0KNG1, PLAT, SERPINE1
38kininogen449.0SERPINE1, PLAT, KNG1
39losartan44 50 28 1111.9KNG1, PLAT, SERPINE1
40pge1448.9KNG1, PLAT, SERPINE1
41aprotinin44 119.9SERPINE1, PLAT, KNG1
42sodium nitroprusside448.9SERPINE1, PLAT, KNG1
435-hydroxytryptamine448.9KNG1, PLAT, SERPINE1
44isoproterenol44 119.9KNG1, PLAT, SERPINE1
45prostacyclin448.9SERPINE1, PLAT, KNG1
46aspirin44 50 28 2411.9KNG1, PLAT, SERPINE1
47actinomycin d448.9KNG1, PLAT, SERPINE1
48heparin44 28 24 1111.9SERPINE1, PLAT, KNG1
49adenylate448.8SERPINE1, PLAT, KNG1
50cycloheximide448.8KNG1, PLAT, SERPINE1

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

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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

Sources for Plasminogen Activator Inhibitor Type 1 Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet