PAI-1D
MCID: PLS029
MIFTS: 44

Plasminogen Activator Inhibitor-1 Deficiency (PAI-1D) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Plasminogen Activator Inhibitor-1 Deficiency

Aliases & Descriptions for Plasminogen Activator Inhibitor-1 Deficiency:

Name: Plasminogen Activator Inhibitor-1 Deficiency 54 24 66 13 69
Plasminogen Activator Inhibitor Type 1 Deficiency 50 29
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency 56
Hyperfibrinolysis Due to Pai1 Deficiency 24
Plasminogen Activator Inhibitor, Type I 13
Congenital Pai-1 Deficiency 56
Pai-1d 66

Characteristics:

Orphanet epidemiological data:

56
congenital plasminogen activator inhibitor type 1 deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: any age;

HPO:

32
plasminogen activator inhibitor-1 deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 613329
Orphanet 56 ORPHA465
ICD10 via Orphanet 34 D68.8
MedGen 40 C2750067
MeSH 42 D025861

Summaries for Plasminogen Activator Inhibitor-1 Deficiency

NIH Rare Diseases : 50 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-1 Deficiency, also known as plasminogen activator inhibitor type 1 deficiency, is related to myocardial infarction and inherited blood coagulation disease, and has symptoms including menorrhagia An important gene associated with Plasminogen Activator Inhibitor-1 Deficiency is SERPINE1 (Serpin Family E Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Folate Metabolism. The drugs Tenofovir and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include endothelial, lung and bone.

OMIM : 54 Plasminogen inhibitor-1 deficiency is a rare autosomal recessive hematologic disorder characterized by increased... (613329) more...

UniProtKB/Swiss-Prot : 66 Plasminogen activator inhibitor-1 deficiency: A hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue and urinary activators of plasminogen.

Wikipedia : 71 Plasminogen activator inhibitor-1 (PAI-1) also known as endothelial plasminogen activator inhibitor or... more...

Related Diseases for Plasminogen Activator Inhibitor-1 Deficiency

Diseases related to Plasminogen Activator Inhibitor-1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
id Related Disease Score Top Affiliating Genes
1 myocardial infarction 29.1 PLAT SERPINE1 SERPINF2
2 inherited blood coagulation disease 10.0 SERPINE1 SERPINF2
3 giant papillary conjunctivitis 10.0 SERPINE1 SERPINF2
4 peanut allergy 10.0 PLAT SERPINF2
5 ductal carcinoma in situ 10.0 PLAT SERPINF2
6 septic myocarditis 10.0 PLAT SERPINF2
7 hennekam lymphangiectasia-lymphedema syndrome 2 9.9 PLAT SERPINF2
8 cerebral calcifications opalescent teeth phosphaturia 9.9 PLAT SERPINE1
9 brazilian hemorrhagic fever 9.9 PLAT SERPINE1
10 aids dementia complex 9.9 PLAT SERPINF2
11 monocular exotropia 9.9 PLAT SERPINE1
12 perrault syndrome 9.9 PLAT SERPINE1
13 obesity 9.9
14 zika virus congenital syndrome 9.9 PLAT SERPINE1
15 xerophthalmia 9.9 PLAT SERPINE1
16 immunodeficiency, common variable, 6 9.9 PLAT SERPINE1
17 congenital chloride diarrhea 9.9 PLAT SERPINE1
18 bone development disease 9.9 PLAT SERPINE1
19 endotheliitis 9.9
20 cervix small cell carcinoma 9.9 PLAT SERPINE1
21 budd-chiari syndrome 9.8 PLAT SERPINE1
22 pyrimidine metabolic disorder 9.8 PLAT SERPINE1
23 pericarditis 9.8 PLAT SERPINE1
24 sydenham chorea 9.8 PLAT SERPINE1
25 atherosclerosis 9.8
26 osteogenesis imperfecta 9.8
27 pneumonia 9.8
28 macular degeneration, age-related, 12 9.8 PLAT SERPINE1
29 inflammatory bowel disease 11 9.8 PLAT SERPINE1 SERPINF2
30 chronic fatigue syndrome 9.7 PLAT SERPINE1 SERPINF2
31 secretory diarrhea myopathy and deafness 9.7 PLAT SERPINE1 SERPINF2
32 sezary's disease 9.7 PLAT SERPINE1 SERPINF2
33 lynch syndrome 9.7 PLAT SERPINE1 SERPINF2
34 pregnancy loss, recurrent 1 9.7 PLAT SERPINE1 SERPINF2
35 brill-zinsser disease 9.7 PLAT SERPINE1 SERPINF2
36 leukocyte disease 9.7 PLAT SERPINE1 SERPINF2
37 adult t-cell leukemia 9.7 PLAT SERPINE1 SERPINF2
38 melioidosis 9.7
39 chordoma 9.7
40 acute myocardial infarction 9.7
41 choroiditis 9.7
42 fibrosarcoma 9.7
43 hypertension, essential 9.7 PLAT SERPINE1

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



Diseases related to Plasminogen Activator Inhibitor-1 Deficiency

Symptoms & Phenotypes for Plasminogen Activator Inhibitor-1 Deficiency

Symptoms by clinical synopsis from OMIM:

613329

Clinical features from OMIM:

613329

Human phenotypes related to Plasminogen Activator Inhibitor-1 Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 menorrhagia 32 HP:0000132

Drugs & Therapeutics for Plasminogen Activator Inhibitor-1 Deficiency

Drugs for Plasminogen Activator Inhibitor-1 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tenofovir Approved, Investigational Phase 4 147127-20-6 464205
2
Nitric Oxide Approved Phase 4 10102-43-9 145068
3
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
4 Nucleic Acid Synthesis Inhibitors Phase 4
5 Anti-HIV Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Anti-Retroviral Agents Phase 4
8 Reverse Transcriptase Inhibitors Phase 4
9 Antiviral Agents Phase 4
10 N-monoacetylcystine Phase 4
11 Neurotransmitter Agents Phase 4
12 Peripheral Nervous System Agents Phase 4
13 Vasodilator Agents Phase 4
14 Endothelium-Dependent Relaxing Factors Phase 4
15 Anti-Asthmatic Agents Phase 4
16 Expectorants Phase 4
17 Protective Agents Phase 4
18 Antidotes Phase 4
19 Respiratory System Agents Phase 4
20 Autonomic Agents Phase 4
21 Bronchodilator Agents Phase 4
22 Antioxidants Phase 4
23 Omega 3 Fatty Acid Nutraceutical Phase 4
24 arginine Nutraceutical Phase 4
25 Hormone Antagonists Phase 3
26 Hormones Phase 3
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
28
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 6221 10883523 5280795
29
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
30 vitamin d Phase 2
31 insulin Phase 2
32 Trace Elements Phase 2
33 Ergocalciferols Phase 2
34 Vitamins Phase 2
35 Insulin, Globin Zinc Phase 2
36 Micronutrients Phase 2
37 Bone Density Conservation Agents Phase 2
38 Vitamin D2 Nutraceutical Phase 2
39 Calciferol Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Metabolic Impact Assessment of Tenofovir Disoproxil Fumarate on Non-HIV-1 Infected Healthy Adult Male Volunteers Completed NCT00648817 Phase 4
2 Omacor and Cardiovascular Risk Factors in HIV Patients on HAART Treatment Completed NCT00296153 Phase 4
3 N-Acetylcysteine and Arginine Administration in Diabetic Patients Terminated NCT00569465 Phase 4
4 Low and Conventional Dose of Somatropin in Growth Hormone Deficient Adult Patients Completed NCT00570011 Phase 3
5 Metabolic Syndrome and Insulin Resistance at Allina Completed NCT01545830 Phase 2
6 Evaluating an Exercise Program to Reduce Cardiovascular Risk Factors in Children Infected With HIV Completed NCT00908284
7 HIV and Cardiovascular Risk Completed NCT00465426

Search NIH Clinical Center for Plasminogen Activator Inhibitor-1 Deficiency

Genetic Tests for Plasminogen Activator Inhibitor-1 Deficiency

Genetic tests related to Plasminogen Activator Inhibitor-1 Deficiency:

id Genetic test Affiliating Genes
1 Plasminogen Activator Inhibitor Type 1 Deficiency 29
2 Plasminogen Activator Inhibitor-1 Deficiency 24 SERPINE1

Anatomical Context for Plasminogen Activator Inhibitor-1 Deficiency

MalaCards organs/tissues related to Plasminogen Activator Inhibitor-1 Deficiency:

39
Endothelial, Lung, Bone, Smooth Muscle

Publications for Plasminogen Activator Inhibitor-1 Deficiency

Articles related to Plasminogen Activator Inhibitor-1 Deficiency:

(show all 17)
id Title Authors Year
1
Organizing empyema induced in mice by Streptococcus pneumoniae: effects of plasminogen activator inhibitor-1 deficiency. ( 27271877 )
2016
2
High-fat Diet Enhances and Plasminogen Activator Inhibitor-1 Deficiency Attenuates Bone Loss in Mice with Lewis Lung Carcinoma. ( 26124329 )
2015
3
Plasminogen activator inhibitor-1 deficiency augments visceral mesothelial organization, intrapleural coagulation, and lung restriction in mice with carbon black/bleomycin-induced pleural injury. ( 24024554 )
2014
4
Plasminogen activator inhibitor-1 deficiency ameliorates insulin resistance and hyperlipidemia but not bone loss in obese female mice. ( 24605827 )
2014
5
Life-threatening hemorrhage and prolonged wound healing are remarkable phenotypes manifested by complete plasminogen activator inhibitor-1 deficiency in humans. ( 21486382 )
2011
6
Intraparenchymal hemorrhage in a patient with osteogenesis imperfecta and plasminogen activator inhibitor-1 deficiency. ( 20142533 )
2010
7
Neither fibrin nor plasminogen activator inhibitor-1 deficiency protects lung function in a mouse model of acute lung injury. ( 19060228 )
2009
8
Plasminogen activator inhibitor-1 deficiency protects against aldosterone-induced glomerular injury. ( 16528256 )
2006
9
Plasminogen activator inhibitor-1 deficiency has renal benefits but some adverse systemic consequences in diabetic mice. ( 16735799 )
2006
10
Plasminogen activator inhibitor-1 deficiency retards diabetic nephropathy. ( 15780082 )
2005
11
Effect of plasminogen activator inhibitor-1 deficiency on nutritionally-induced obesity in mice. ( 15886793 )
2005
12
Plasminogen activator inhibitor-1 deficiency enhances flow-induced smooth muscle cell migration. ( 15262486 )
2004
13
[Report of a case of congenital plasminogen activator inhibitor-1 deficiency]. ( 15182577 )
2004
14
[Anesthetic management of a patient with congenital plasminogen activator inhibitor-1 deficiency]. ( 12632627 )
2003
15
Plasminogen activator inhibitor-1 deficiency prevents hypertension and vascular fibrosis in response to long-term nitric oxide synthase inhibition. ( 11502712 )
2001
16
Plasminogen activator inhibitor-1 deficiency protects against atherosclerosis progression in the mouse carotid artery. ( 11110693 )
2000
17
Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency. ( 10754381 )
1999

Variations for Plasminogen Activator Inhibitor-1 Deficiency

ClinVar genetic disease variations for Plasminogen Activator Inhibitor-1 Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SERPINE1 SERPINE1, 2-BP INS, 4977TA insertion Pathogenic

Expression for Plasminogen Activator Inhibitor-1 Deficiency

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

Pathways for Plasminogen Activator Inhibitor-1 Deficiency

GO Terms for Plasminogen Activator Inhibitor-1 Deficiency

Cellular components related to Plasminogen Activator Inhibitor-1 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.16 PLAT SERPINE1
2 extracellular space GO:0005615 9.13 PLAT SERPINE1 SERPINF2
3 platelet alpha granule lumen GO:0031093 8.62 SERPINE1 SERPINF2

Biological processes related to Plasminogen Activator Inhibitor-1 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 9.37 SERPINE1 SERPINF2
2 platelet degranulation GO:0002576 9.32 SERPINE1 SERPINF2
3 negative regulation of peptidase activity GO:0010466 9.26 SERPINE1 SERPINF2
4 negative regulation of fibrinolysis GO:0051918 9.16 SERPINE1 SERPINF2
5 negative regulation of plasminogen activation GO:0010757 8.96 SERPINE1 SERPINF2
6 fibrinolysis GO:0042730 8.8 PLAT SERPINE1 SERPINF2

Molecular functions related to Plasminogen Activator Inhibitor-1 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.16 SERPINE1 SERPINF2
2 serine-type endopeptidase inhibitor activity GO:0004867 8.96 SERPINE1 SERPINF2
3 protease binding GO:0002020 8.62 SERPINE1 SERPINF2

Sources for Plasminogen Activator Inhibitor-1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....