MCID: PLS018
MIFTS: 38

Plasminogen Activator Inhibitor Type 1 Deficiency malady

Blood diseases category

Summaries for Plasminogen Activator Inhibitor Type 1 Deficiency

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: 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 Dissolution of Fibrin Clot. The compounds diisopropylfluorophosphate and aprotinin 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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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

plasminogen activator inhibitor type 1 deficiency 42 20 22
plasminogen activator inhibitor-1 deficiency 46 60
congenital plasminogen activator inhibitor type 1 deficiency 48
congenital pai-1 deficiency 48


External Ids:

OMIM46 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 top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta10.3
2central retinal artery occlusion10.0PLAT
3central retinal vein occlusion10.0PLAT
4pulmonary embolism10.0PLAT
5diabetic retinopathy10.0SERPINE1
6polycystic ovary syndrome10.0SERPINE1
7brain ischemia10.0PLAT
8severe pre-eclampsia10.0SERPINE1
9antiphospholipid syndrome10.0PLAT
10hellp syndrome10.0SERPINE1
11arteriosclerosis10.0SERPINE1
12proteinuria10.0KNG1
13glomerulonephritis10.0KNG1
14malignant glioma10.0KNG1
15brain edema10.0KNG1
16astrocytoma10.0KNG1
17influenza10.0KNG1
18pneumonia10.0KNG1
19hepatic vein thrombosis10.0SERPINE1, PLAT
20hypertriglyceridemia10.0PLAT, SERPINE1
21stroke, ischemic10.0PLAT, SERPINE1
22glioblastoma multiforme10.0KNG1
23coronary thrombosis10.0PLAT, SERPINE1
24acute myocardial infarction10.0SERPINE1, PLAT
25coronary heart disease10.0PLAT, SERPINE1
26hemorrhagic disease10.0PLAT, SERPINE1
27venous thrombosis10.0PLAT, SERPINE1
28insulin resistance10.0PLAT, SERPINE1
29thrombophilia10.0PLAT, SERPINE1
30arthritis10.0KNG1
31disseminated intravascular coagulation10.0SERPINE1, PLAT
32angioedema10.0KNG1, PLAT
33hypercholesterolemia10.0SERPINE1, KNG1
34ischemia10.0KNG1, PLAT
35primary hyperoxaluria10.0SERPINE1, KNG1
36neuroblastoma10.0KNG1
37septic shock10.0KNG1, SERPINE1
38congenital heart defect10.0KNG1, SERPINE1
39thromboembolism10.0PLAT, SERPINE1
40retinal disease10.0SERPINE1, KNG1
41diabetic nephropathy10.0SERPINE1, KNG1
42obesity10.0SERPINE1, KNG1
43hyperhomocysteinemia10.0SERPINE1, PLAT, KNG1
44ischemic heart disease10.0KNG1, SERPINE1, PLAT
45vascular disease10.0SERPINE1, PLAT, KNG1
46factor v leiden thrombophilia10.0KNG1, PLAT, SERPINE1
47pre-eclampsia10.0KNG1, SERPINE1, PLAT
48coronary artery disease10.0SERPINE1, PLAT, KNG1
49essential hypertension10.0SERPINE1, PLAT, KNG1
50myocardial infarction10.0SERPINE1, KNG1, 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

Clinical Features for Plasminogen Activator Inhibitor Type 1 Deficiency

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46OMIM
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Clinical features from OMIM:

613329

Clinical synopsis from OMIM:

613329

Drugs & Therapeutics for Plasminogen Activator Inhibitor Type 1 Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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Genetic Variations for Plasminogen Activator Inhibitor Type 1 Deficiency

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Expression for genes affiliated with Plasminogen Activator Inhibitor Type 1 Deficiency

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1BioGPS, 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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12EMD Millipore, 53Reactome, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems
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Pathways related to Plasminogen Activator Inhibitor Type 1 Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion ECM remodeling
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9.3SERPINE1, PLAT
29.3SERPINE1, PLAT
39.3SERPINE1, PLAT
49.3SERPINE1, PLAT
59.1KNG1, PLAT
6
Hide members
9.0SERPINE1, KNG1
7
Hide members
8.5SERPINE1, PLAT, KNG1
8
Hide members
8.5SERPINE1, PLAT, KNG1

Compounds for genes affiliated with Plasminogen Activator Inhibitor Type 1 Deficiency

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Plasminogen Activator Inhibitor Type 1 Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
1diisopropylfluorophosphate4410.3SERPINE1
2aprotinin44 1110.8SERPINE1, PLAT
3notoginsenoside r1449.8PLAT, SERPINE1
4eaca449.8SERPINE1, PLAT
5batroxobin449.7SERPINE1, PLAT
6ancrod449.7PLAT, SERPINE1
7p-amino benzamidine449.7PLAT, SERPINE1
8Urokinase119.7PLAT, SERPINE1
9chloramine t449.7SERPINE1, PLAT
10tranexamic acid44 1110.7SERPINE1, PLAT
11epsilon aminocaproic acid449.7SERPINE1, PLAT
12fucoidan449.7SERPINE1, PLAT
13hydrochlorothiazide44 49 28 11 2413.7PLAT, SERPINE1
14gemfibrozil44 28 1111.6SERPINE1, PLAT
15desmopressin44 59 28 1112.6SERPINE1, PLAT
16hirudin449.6SERPINE1, PLAT
17delapril449.6KNG1, PLAT
18protamine449.6SERPINE1, PLAT
19omapatrilat449.5KNG1, PLAT
20enalaprilat449.5KNG1, PLAT
21fluvastatin44 49 28 1112.5PLAT, SERPINE1
22diltiazem44 28 1111.5PLAT, KNG1
23eprosartan44 28 1111.4SERPINE1, KNG1
24ramipril44 1110.4SERPINE1, KNG1
25n(g)-nitro-l-arginine methyl ester449.4SERPINE1, KNG1
26nitroglycerin44 1110.4KNG1, PLAT
27candesartan44 28 1111.4SERPINE1, KNG1
28methacholine44 1110.3PLAT, KNG1
29p003449.3PLAT, SERPINE1
30troglitazone44 28 59 1112.3SERPINE1, PLAT
31thromboxane44 2410.3PLAT, KNG1
32homocysteine44 2410.2SERPINE1, PLAT
33thromboxane a244 2410.2PLAT, KNG1
34prostaglandin f2alpha449.1SERPINE1, KNG1
35atorvastatin44 49 28 11 2413.0SERPINE1, PLAT
36quinapril44 1110.0SERPINE1, PLAT, KNG1
37perindopril44 49 1111.0SERPINE1, PLAT, KNG1
38enalapril44 49 1111.0KNG1, PLAT, SERPINE1
39kininogen449.0SERPINE1, PLAT, KNG1
40losartan44 49 28 1111.9KNG1, PLAT, SERPINE1
41pge1448.9SERPINE1, PLAT, KNG1
42sodium nitroprusside448.9SERPINE1, PLAT, KNG1
435-hydroxytryptamine448.9KNG1, PLAT, SERPINE1
44isoproterenol44 119.9KNG1, PLAT, SERPINE1
45prostacyclin448.9SERPINE1, PLAT, KNG1
46aspirin44 49 28 2411.9SERPINE1, PLAT, KNG1
47actinomycin d448.9KNG1, PLAT, SERPINE1
48heparin44 28 11 2411.8KNG1, PLAT, SERPINE1
49adenylate448.8KNG1, PLAT, SERPINE1
50cycloheximide448.8SERPINE1, PLAT, KNG1

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
1platelet alpha granule lumenGO:0310939.0SERPINE1, KNG1
2extracellular matrixGO:0310129.0PLAT, SERPINE1
3extracellular regionGO:0055768.5SERPINE1, PLAT, KNG1
4extracellular spaceGO:0056158.4SERPINE1, PLAT, KNG1

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

idNameGO IDScoreTop Affiliating Genes
1fibrinolysisGO:0427309.3SERPINE1, PLAT
2negative regulation of blood coagulationGO:0301959.1SERPINE1, KNG1
3platelet activationGO:0301689.0SERPINE1, KNG1
4platelet degranulationGO:0025768.7SERPINE1, KNG1
5blood coagulationGO:0075968.4KNG1, PLAT, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet