MCID: PLS018
MIFTS: 31

Plasminogen Activator Inhibitor Type 1 Deficiency malady

Blood category

Summaries for Plasminogen Activator Inhibitor Type 1 Deficiency

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 congenital plasminogen deficiency and osteogenesis imperfecta. 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:47 613329

Aliases & Classifications for Plasminogen Activator Inhibitor Type 1 Deficiency

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


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 61
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

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1congenital plasminogen deficiency10.5
2osteogenesis imperfecta10.3
3central retinal artery occlusion10.0PLAT
4central retinal vein occlusion10.0PLAT
5pulmonary embolism10.0PLAT
6diabetic retinopathy10.0SERPINE1
7polycystic ovary syndrome10.0SERPINE1
8brain ischemia10.0PLAT
9severe pre-eclampsia10.0SERPINE1
10antiphospholipid syndrome10.0PLAT
11hellp syndrome10.0SERPINE1
12arteriosclerosis10.0SERPINE1
13proteinuria10.0KNG1
14glomerulonephritis10.0KNG1
15malignant glioma10.0KNG1
16brain edema10.0KNG1
17astrocytoma10.0KNG1
18influenza10.0KNG1
19pneumonia10.0KNG1
20hepatic vein thrombosis10.0SERPINE1, PLAT
21hypertriglyceridemia10.0PLAT, SERPINE1
22stroke, ischemic10.0PLAT, SERPINE1
23glioblastoma multiforme10.0KNG1
24coronary thrombosis10.0PLAT, SERPINE1
25acute myocardial infarction10.0SERPINE1, PLAT
26coronary heart disease10.0PLAT, SERPINE1
27hemorrhagic disease10.0PLAT, SERPINE1
28venous thrombosis10.0PLAT, SERPINE1
29insulin resistance10.0PLAT, SERPINE1
30thrombophilia10.0PLAT, SERPINE1
31arthritis10.0KNG1
32disseminated intravascular coagulation10.0SERPINE1, PLAT
33angioedema10.0KNG1, PLAT
34hypercholesterolemia10.0SERPINE1, KNG1
35ischemia10.0KNG1, PLAT
36primary hyperoxaluria10.0SERPINE1, KNG1
37neuroblastoma10.0KNG1
38septic shock10.0KNG1, SERPINE1
39congenital heart defect10.0KNG1, SERPINE1
40thromboembolism10.0PLAT, SERPINE1
41retinal disease10.0SERPINE1, KNG1
42diabetic nephropathy10.0SERPINE1, KNG1
43obesity10.0SERPINE1, KNG1
44hyperhomocysteinemia10.0SERPINE1, PLAT, KNG1
45ischemic heart disease10.0KNG1, SERPINE1, PLAT
46vascular disease10.0SERPINE1, PLAT, KNG1
47factor v leiden thrombophilia10.0KNG1, PLAT, SERPINE1
48pre-eclampsia10.0KNG1, SERPINE1, PLAT
49coronary artery disease,10.0SERPINE1, PLAT, KNG1
50essential hypertension10.0SERPINE1, PLAT, 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

Clinical Features for Plasminogen Activator Inhibitor Type 1 Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613329

Clinical synopsis from OMIM:

613329

Drugs & Therapeutics for Plasminogen Activator Inhibitor Type 1 Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

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

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Plasminogen Activator Inhibitor Type 1 Deficiency

Genetic Variations for Plasminogen Activator Inhibitor Type 1 Deficiency

Expression for genes affiliated with Plasminogen Activator Inhibitor Type 1 Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 54Reactome, 38NCBI BioSystems Database, 30KEGG, 53R&D Systems
See all sources

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
Hide members
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

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience
See all sources

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

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
1diisopropylfluorophosphate4510.3SERPINE1
2aprotinin45 1110.8SERPINE1, PLAT
3notoginsenoside r1459.8PLAT, SERPINE1
4eaca459.8SERPINE1, PLAT
5batroxobin459.7SERPINE1, PLAT
6ancrod459.7PLAT, SERPINE1
7p-amino benzamidine459.7PLAT, SERPINE1
8Urokinase119.7PLAT, SERPINE1
9chloramine t459.7SERPINE1, PLAT
10tranexamic acid45 1110.7SERPINE1, PLAT
11epsilon aminocaproic acid459.7SERPINE1, PLAT
12fucoidan459.7SERPINE1, PLAT
13hydrochlorothiazide45 50 29 11 2413.7PLAT, SERPINE1
14gemfibrozil45 29 1111.6SERPINE1, PLAT
15desmopressin45 60 29 1112.6SERPINE1, PLAT
16hirudin459.6SERPINE1, PLAT
17delapril459.6KNG1, PLAT
18protamine459.6SERPINE1, PLAT
19omapatrilat459.5KNG1, PLAT
20enalaprilat459.5KNG1, PLAT
21fluvastatin45 50 29 1112.5PLAT, SERPINE1
22diltiazem45 29 1111.5PLAT, KNG1
23eprosartan45 29 1111.4SERPINE1, KNG1
24ramipril45 1110.4SERPINE1, KNG1
25n(g)-nitro-l-arginine methyl ester459.4SERPINE1, KNG1
26nitroglycerin45 1110.4KNG1, PLAT
27candesartan45 29 1111.4SERPINE1, KNG1
28methacholine45 1110.3PLAT, KNG1
29p003459.3PLAT, SERPINE1
30troglitazone45 29 60 1112.3SERPINE1, PLAT
31thromboxane45 2410.3PLAT, KNG1
32homocysteine45 2410.2SERPINE1, PLAT
33thromboxane a245 2410.2PLAT, KNG1
34prostaglandin f2alpha459.1SERPINE1, KNG1
35atorvastatin45 50 29 11 2413.0SERPINE1, PLAT
36quinapril45 1110.0SERPINE1, PLAT, KNG1
37perindopril45 50 1111.0SERPINE1, PLAT, KNG1
38enalapril45 50 1111.0KNG1, PLAT, SERPINE1
39kininogen459.0SERPINE1, PLAT, KNG1
40losartan45 50 29 1111.9KNG1, PLAT, SERPINE1
41pge1458.9SERPINE1, PLAT, KNG1
42sodium nitroprusside458.9SERPINE1, PLAT, KNG1
435-hydroxytryptamine458.9KNG1, PLAT, SERPINE1
44isoproterenol45 119.9KNG1, PLAT, SERPINE1
45prostacyclin458.9SERPINE1, PLAT, KNG1
46aspirin45 50 29 2411.9SERPINE1, PLAT, KNG1
47actinomycin d458.9KNG1, PLAT, SERPINE1
48heparin45 29 11 2411.8KNG1, PLAT, SERPINE1
49adenylate458.8KNG1, PLAT, SERPINE1
50cycloheximide458.8SERPINE1, PLAT, KNG1

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

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Plasminogen Activator Inhibitor Type 1 Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet