PAI-1D
MCID: PLS029
MIFTS: 41

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

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Plasminogen Activator Inhibitor-1 Deficiency

MalaCards integrated aliases for Plasminogen Activator Inhibitor-1 Deficiency:

Name: Plasminogen Activator Inhibitor-1 Deficiency 57 72 13 70
Hyperfibrinolysis Due to Pai1 Deficiency 57 20 6
Plasminogen Activator Inhibitor Type 1 Deficiency 20 36
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency 58
Deficiency, Plasminogen Activator Inhibitor-1 39
Plasminogen Activator Inhibitor 1 Deficiency 20
Congenital Pai-1 Deficiency 58
Pai-1 Deficiency 20
Pai1 Deficiency 20
Pai-1d 72

Characteristics:

Orphanet epidemiological data:

58
congenital plasminogen activator inhibitor type 1 deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
congenital onset
spontaneous bleeding is rare
favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid)

Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
plasminogen activator inhibitor-1 deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 613329
KEGG 36 H01106
MeSH 44 D025861
ICD10 via Orphanet 33 D68.8
UMLS via Orphanet 71 C2750067
Orphanet 58 ORPHA465
MedGen 41 C2750067
SNOMED-CT via HPO 68 258211005 263681008 386692008
UMLS 70 C2750067

Summaries for Plasminogen Activator Inhibitor-1 Deficiency

GARD : 20 Plasminogen activator inhibitor type 1 (PAI1) deficiency is a rare bleeding disorder that causes excessive or prolonged bleeding due to blood clots being broken down too early. PAI1 is a protein in the body needed for normal blood clotting. When the body does not have enough functional PAI1, the body's ability keep blood clots intact is impaired. Some people with PAI1 deficiency have some functional PAI1 (partial PAI1 deficiency), while others do not have any (complete PAI1 deficiency). Therefore, the severity of symptoms depends on how much functional PAI1 a person has. People with complete PAI1 deficiency may have symptoms in infancy, while those with partial PAI1 deficiency may not have symptoms until later in life, after an injury or surgery. Symptoms of PAI1 deficiency include excessive or prolonged bleeding after an injury, or after a medical or dental procedure. The bleeding may be delayed if clots initially form but are broken down too early. Internal bleeding after an injury can be life-threatening, particularly if it occurs around the brain. Other symptoms may include delayed wound healing, nosebleeds that last a long time, easy bruising, bleeding in the joints, and excessive bleeding in females during menstruation, pregnancy or childbirth. Some people with PAI1 deficiency may have scar tissue in the heart (cardiac fibrosis). PAI1 deficiency is caused by mutations in the SERPINE1 gene and inheritance typically is autosomal recessive. The specific mutations present determine whether a person has complete or partial PAI1 deficiency. In rare cases partial PAI1 deficiency has appeared to be autosomal dominant, but the genetic causes in these cases were not determined. In general, people with one SERPINE1 mutation ( carriers ) will not develop significant symptoms, if any. A diagnosis of PAI1 deficiency may be made based on evaluation of symptoms, various blood tests, and genetic testing of the SERPINE1 gene. Treatment for severe bleeding episodes may include intravenous antifibrinolytics (drugs that help the blood clot) and infusion of fresh frozen plasma. Antifibrinolytics may also be used for heavy menstrual bleeding or to prevent bleeding during an invasive procedure or childbirth.

MalaCards based summary : Plasminogen Activator Inhibitor-1 Deficiency, also known as hyperfibrinolysis due to pai1 deficiency, is related to complete plasminogen activator inhibitor 1 deficiency and microvascular complications of diabetes 3. An important gene associated with Plasminogen Activator Inhibitor-1 Deficiency is SERPINE1 (Serpin Family E Member 1), and among its related pathways/superpathways are p53 signaling pathway and Complement and coagulation cascades. Affiliated tissues include endothelial, lung and smooth muscle, and related phenotypes are menorrhagia and gastrointestinal hemorrhage

OMIM® : 57 Plasminogen inhibitor-1 deficiency is a rare autosomal recessive 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 PAI1, which inhibits tissue (PLAT; 173370) and urinary (PLAU; 191840) activators of plasminogen (PLG; 173350) (review by Mehta and Shapiro, 2008). (613329) (Updated 05-Apr-2021)

KEGG : 36 Plasminogen activator inhibitor type 1 (PAI-1) deficiency is a disorder resulting in increased fibrinolysis and an associated bleeding diathesis. PAI-1 is an important component of the coagulation system that down-regulates fibrinolysis in the circulation. Affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical procedures. Spontaneous bleeding events are rarely seen in contrast to other procoagulant deficiencies. Generally most of the PAI-1-related diseases are due to elevated antigenic concentrations and their inhibitory activity. However, absence of cellular PAI-1 activity also causes several diseases. Clear documentation of PAI-1 deficiency as a cause of a bleeding disorder has been rare.

UniProtKB/Swiss-Prot : 72 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 : 73 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 top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 complete plasminogen activator inhibitor 1 deficiency 11.9
2 microvascular complications of diabetes 3 10.3
3 microvascular complications of diabetes 4 10.3
4 microvascular complications of diabetes 6 10.3
5 microvascular complications of diabetes 7 10.3
6 portal hypertension 10.2
7 liver cirrhosis 10.2
8 pneumonia 10.2
9 atherosclerosis susceptibility 10.1
10 brittle bone disorder 10.1
11 bone resorption disease 10.1
12 monocular esotropia 10.1
13 glucose intolerance 10.1
14 vascular disease 10.1
15 hyperinsulinism 10.1
16 pleural empyema 10.1
17 hyperglycemia 10.1
18 osteoarthritis 10.1
19 esotropia 10.1
20 47,xyy 10.1
21 dic in newborn 10.0 SERPINF2 SERPINE1
22 livedoid vasculitis 10.0 SERPINF2 SERPINE1
23 factor xiii deficiency 9.9 SERPINF2 SERPINE1
24 major depressive disorder 9.9
25 renal fibrosis 9.9
26 mental depression 9.9
27 ureteral obstruction 9.9
28 hemophilia 9.9
29 depression 9.9
30 rare hemorrhagic disorder 9.9
31 platelet aggregation, spontaneous 9.9 SERPINF2 PLAT
32 plasminogen deficiency, type i 9.8 SERPINF2 PLAT
33 intracranial embolism 9.8 SERPINF2 PLAT
34 perforated corneal ulcer 9.8 SERPINF2 PLAT
35 fibrinolytic defect 9.8 SERPINE1 PLAT
36 central serous chorioretinopathy 9.8 SERPINE1 PLAT
37 thrombotic thrombocytopenic purpura 9.8 SERPINF2 PLAT
38 argentine hemorrhagic fever 9.8 SERPINE1 PLAT
39 carotid artery thrombosis 9.8 SERPINE1 PLAT
40 coronary thrombosis 9.8 SERPINE1 PLAT
41 chronic venous insufficiency 9.8 SERPINE1 PLAT
42 venous insufficiency 9.8 SERPINE1 PLAT
43 portal vein thrombosis 9.8 SERPINE1 PLAT
44 vein disease 9.7 SERPINE1 PLAT
45 hepatic veno-occlusive disease 9.7 SERPINE1 PLAT
46 limb ischemia 9.7 SERPINE1 PLAT
47 thrombophilia due to thrombin defect 9.7 SERPINE1 PLAT
48 endocarditis 9.7 SERPINE1 PLAT
49 antiphospholipid syndrome 9.7 SERPINE1 PLAT
50 hellp syndrome 9.7 SERPINE1 PLAT

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

Human phenotypes related to Plasminogen Activator Inhibitor-1 Deficiency:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 menorrhagia 58 31 Frequent (79-30%) HP:0000132
2 gastrointestinal hemorrhage 58 Occasional (29-5%)
3 epistaxis 58 Occasional (29-5%)
4 intracranial hemorrhage 58 Occasional (29-5%)
5 spontaneous hematomas 58 Excluded (0%)
6 subcutaneous hemorrhage 58 Frequent (79-30%)
7 premature birth 58 Frequent (79-30%)
8 spontaneous abortion 58 Frequent (79-30%)
9 poor wound healing 58 Very rare (<4-1%)
10 decreased level of plasminogen 58 Very frequent (99-80%)
11 post-partum hemorrhage 58 Occasional (29-5%)
12 intramuscular hematoma 58 Very rare (<4-1%)
13 joint hemorrhage 58 Very rare (<4-1%)
14 persistent bleeding after trauma 58 Very frequent (99-80%)
15 prolonged bleeding after dental extraction 58 Occasional (29-5%)
16 prolonged bleeding after surgery 58 Very frequent (99-80%)
17 myocardial fibrosis 58 Very rare (<4-1%)
18 hemoperitoneum 58 Very rare (<4-1%)
19 umbilical cord hematoma 58 Occasional (29-5%)
20 epidural hemorrhage 58 Very rare (<4-1%)
21 decreased level of tissue plasminogen activator 58 Very frequent (99-80%)
22 reduced alpha-2-antiplasmin activity 58 Very frequent (99-80%)
23 reduced plasminogen activator inhibitor 1 activity 58 Very frequent (99-80%)
24 reduced plasminogen activator inhibitor 1 antigen 58 Very frequent (99-80%)
25 oral bleeding 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
menorrhagia
increased bleeding after trauma, surgery, or injury
hematomas after trauma or injury
bleeding defect due to decreased plasminogen activator inhibitor-1
decreased euglobin lysis time
more

Clinical features from OMIM®:

613329 (Updated 05-Apr-2021)

Drugs & Therapeutics for Plasminogen Activator Inhibitor-1 Deficiency

Search Clinical Trials , NIH Clinical Center for Plasminogen Activator Inhibitor-1 Deficiency

Genetic Tests for Plasminogen Activator Inhibitor-1 Deficiency

Anatomical Context for Plasminogen Activator Inhibitor-1 Deficiency

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

40
Endothelial, Lung, Smooth Muscle

Publications for Plasminogen Activator Inhibitor-1 Deficiency

Articles related to Plasminogen Activator Inhibitor-1 Deficiency:

(show all 28)
# Title Authors PMID Year
1
A case of deficiency of plasma plasminogen activator inhibitor-1 related to Ala15Thr mutation in its signal peptide. 6 57
15650551 2005
2
Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene. 6 57
9207454 1997
3
Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation. 6 57
1435917 1992
4
Life-threatening hemorrhage and prolonged wound healing are remarkable phenotypes manifested by complete plasminogen activator inhibitor-1 deficiency in humans. 61 6
21486382 2011
5
Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency. 57 61
10754381 1999
6
Plasminogen activator inhibitor type 1 deficiency. 57
19141166 2008
7
Hereditary partial deficiency of plasminogen activator inhibitor-1 associated with a lifelong bleeding tendency. 57
8757969 1996
8
Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor. 57
2496147 1989
9
Plasminogen activator inhibitor-1 deficiency suppresses osteoblastic differentiation of mesenchymal stem cells in mice. 61
30387130 2019
10
Plasminogen activator inhibitor-1 deficiency enhances subchondral osteopenia after induction of osteoarthritis in mice. 61
28893232 2017
11
Complete Plasminogen Activator Inhibitor 1 Deficiency 61
28771291 2017
12
Organizing empyema induced in mice by Streptococcus pneumoniae: effects of plasminogen activator inhibitor-1 deficiency. 61
27271877 2016
13
High-fat Diet Enhances and Plasminogen Activator Inhibitor-1 Deficiency Attenuates Bone Loss in Mice with Lewis Lung Carcinoma. 61
26124329 2015
14
Plasminogen activator inhibitor-1 deficiency ameliorates insulin resistance and hyperlipidemia but not bone loss in obese female mice. 61
24605827 2014
15
Plasminogen activator inhibitor-1 deficiency augments visceral mesothelial organization, intrapleural coagulation, and lung restriction in mice with carbon black/bleomycin-induced pleural injury. 61
24024554 2014
16
Laboratory testing for bleeding disorders: strategic uses of high and low-yield tests. 61
23480172 2013
17
Intraparenchymal hemorrhage in a patient with osteogenesis imperfecta and plasminogen activator inhibitor-1 deficiency. 61
20142533 2010
18
Neither fibrin nor plasminogen activator inhibitor-1 deficiency protects lung function in a mouse model of acute lung injury. 61
19060228 2009
19
Plasminogen activator inhibitor-1 deficiency protects against aldosterone-induced glomerular injury. 61
16528256 2006
20
Plasminogen activator inhibitor-1 deficiency has renal benefits but some adverse systemic consequences in diabetic mice. 61
16735799 2006
21
Effect of plasminogen activator inhibitor-1 deficiency on nutritionally-induced obesity in mice. 61
15886793 2005
22
Plasminogen activator inhibitor-1 deficiency retards diabetic nephropathy. 61
15780082 2005
23
[Report of a case of congenital plasminogen activator inhibitor-1 deficiency]. 61
15182577 2004
24
Plasminogen activator inhibitor-1 deficiency enhances flow-induced smooth muscle cell migration. 61
15262486 2004
25
[Anesthetic management of a patient with congenital plasminogen activator inhibitor-1 deficiency]. 61
12632627 2003
26
Plasminogen activator inhibitor-1 deficiency prevents hypertension and vascular fibrosis in response to long-term nitric oxide synthase inhibition. 61
11502712 2001
27
Plasminogen activator inhibitor-1 deficiency protects against atherosclerosis progression in the mouse carotid artery. 61
11110693 2000
28
Inherited disorders of platelet alpha-granules. 61
16793651 1997

Variations for Plasminogen Activator Inhibitor-1 Deficiency

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

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINE1 SERPINE1, 2-BP INS, 4977TA Insertion Pathogenic 13571 GRCh37:
GRCh38:
2 SERPINE1 NM_000602.4(SERPINE1):c.697_698TA[3] (p.Thr234fs) Microsatellite Pathogenic 487667 rs1194865614 GRCh37: 7:100775346-100775347
GRCh38: 7:101132065-101132066
3 SERPINE1 NM_000602.5(SERPINE1):c.1001-2A>G SNV Pathogenic 997533 GRCh37: 7:100778994-100778994
GRCh38: 7:101135713-101135713
4 SERPINE1 NM_000602.4(SERPINE1):c.356dup (p.Ile120fs) Duplication Pathogenic 487666 rs1554362148 GRCh37: 7:100773785-100773786
GRCh38: 7:101130504-101130505
5 SERPINE1 NM_000602.5(SERPINE1):c.134del (p.Gln45fs) Deletion Pathogenic 1031640 GRCh37: 7:100771808-100771808
GRCh38: 7:101128527-101128527
6 SERPINE1 NM_000602.5(SERPINE1):c.719A>G (p.Asp240Gly) SNV Uncertain significance 1031641 GRCh37: 7:100776994-100776994
GRCh38: 7:101133713-101133713
7 SERPINE1 NM_000602.5(SERPINE1):c.1088-11T>C SNV Uncertain significance 910011 GRCh37: 7:100780271-100780271
GRCh38: 7:101136990-101136990
8 SERPINE1 NM_000602.5(SERPINE1):c.*863C>T SNV Uncertain significance 908117 GRCh37: 7:100781586-100781586
GRCh38: 7:101138305-101138305
9 SERPINE1 NM_000602.5(SERPINE1):c.*1545T>C SNV Uncertain significance 912191 GRCh37: 7:100782268-100782268
GRCh38: 7:101138987-101138987
10 SERPINE1 NM_000602.5(SERPINE1):c.*617T>A SNV Uncertain significance 912130 GRCh37: 7:100781340-100781340
GRCh38: 7:101138059-101138059
11 SERPINE1 NM_000602.5(SERPINE1):c.*585G>T SNV Uncertain significance 912129 GRCh37: 7:100781308-100781308
GRCh38: 7:101138027-101138027
12 SERPINE1 NM_000602.5(SERPINE1):c.*533C>T SNV Uncertain significance 912128 GRCh37: 7:100781256-100781256
GRCh38: 7:101137975-101137975
13 SERPINE1 NM_000602.5(SERPINE1):c.*478A>C SNV Uncertain significance 912127 GRCh37: 7:100781201-100781201
GRCh38: 7:101137920-101137920
14 SERPINE1 NM_000602.5(SERPINE1):c.*456G>C SNV Uncertain significance 912126 GRCh37: 7:100781179-100781179
GRCh38: 7:101137898-101137898
15 SERPINE1 NM_000602.5(SERPINE1):c.*456G>A SNV Uncertain significance 912125 GRCh37: 7:100781179-100781179
GRCh38: 7:101137898-101137898
16 SERPINE1 NM_000602.5(SERPINE1):c.*455C>T SNV Uncertain significance 912124 GRCh37: 7:100781178-100781178
GRCh38: 7:101137897-101137897
17 overlap with 7 genes Duplication Uncertain significance 560088 GRCh37: 7:100730280-100853730
GRCh38:
18 SERPINE1 NM_000602.5(SERPINE1):c.626G>A (p.Arg209His) SNV Uncertain significance 908054 GRCh37: 7:100775276-100775276
GRCh38: 7:101131995-101131995
19 SERPINE1 NM_000602.5(SERPINE1):c.700+10A>G SNV Uncertain significance 908055 GRCh37: 7:100775360-100775360
GRCh38: 7:101132079-101132079
20 SERPINE1 NM_000602.5(SERPINE1):c.801G>A (p.Glu267=) SNV Uncertain significance 910006 GRCh37: 7:100777076-100777076
GRCh38: 7:101133795-101133795
21 SERPINE1 NM_000602.5(SERPINE1):c.934C>T (p.Pro312Ser) SNV Uncertain significance 910008 GRCh37: 7:100778809-100778809
GRCh38: 7:101135528-101135528
22 SERPINE1 NM_000602.5(SERPINE1):c.989C>T (p.Thr330Met) SNV Uncertain significance 910009 GRCh37: 7:100778864-100778864
GRCh38: 7:101135583-101135583
23 SERPINE1 NM_000602.5(SERPINE1):c.995T>C (p.Leu332Pro) SNV Uncertain significance 910010 GRCh37: 7:100778870-100778870
GRCh38: 7:101135589-101135589
24 SERPINE1 NM_000602.5(SERPINE1):c.*236C>T SNV Uncertain significance 910897 GRCh37: 7:100780959-100780959
GRCh38: 7:101137678-101137678
25 SERPINE1 NM_000602.5(SERPINE1):c.*275C>T SNV Uncertain significance 910898 GRCh37: 7:100780998-100780998
GRCh38: 7:101137717-101137717
26 SERPINE1 NM_000602.5(SERPINE1):c.*294T>G SNV Uncertain significance 910899 GRCh37: 7:100781017-100781017
GRCh38: 7:101137736-101137736
27 SERPINE1 NM_000602.5(SERPINE1):c.*425T>C SNV Uncertain significance 910900 GRCh37: 7:100781148-100781148
GRCh38: 7:101137867-101137867
28 SERPINE1 NM_000602.5(SERPINE1):c.*1296G>A SNV Uncertain significance 910963 GRCh37: 7:100782019-100782019
GRCh38: 7:101138738-101138738
29 SERPINE1 NM_000602.5(SERPINE1):c.*1437C>A SNV Uncertain significance 910964 GRCh37: 7:100782160-100782160
GRCh38: 7:101138879-101138879
30 SERPINE1 NM_000602.5(SERPINE1):c.-109G>A SNV Uncertain significance 912062 GRCh37: 7:100770418-100770418
GRCh38: 7:101127137-101127137
31 SERPINE1 NM_000602.5(SERPINE1):c.-20G>C SNV Uncertain significance 912063 GRCh37: 7:100770507-100770507
GRCh38: 7:101127226-101127226
32 SERPINE1 NM_000602.5(SERPINE1):c.149C>G (p.Ser50Cys) SNV Uncertain significance 912064 GRCh37: 7:100771823-100771823
GRCh38: 7:101128542-101128542
33 SERPINE1 NM_000602.4(SERPINE1):c.-101G>A SNV Uncertain significance 358304 rs886061835 GRCh37: 7:100770426-100770426
GRCh38: 7:101127145-101127145
34 SERPINE1 NM_000602.4(SERPINE1):c.*1006T>C SNV Uncertain significance 358326 rs201434513 GRCh37: 7:100781729-100781729
GRCh38: 7:101138448-101138448
35 SERPINE1 NM_000602.4(SERPINE1):c.649G>A (p.Gly217Ser) SNV Uncertain significance 358312 rs766181190 GRCh37: 7:100775299-100775299
GRCh38: 7:101132018-101132018
36 SERPINE1 NM_000602.4(SERPINE1):c.*1295C>T SNV Uncertain significance 358332 rs372017980 GRCh37: 7:100782018-100782018
GRCh38: 7:101138737-101138737
37 SERPINE1 NM_000602.4(SERPINE1):c.456G>C (p.Val152=) SNV Uncertain significance 358309 rs200318916 GRCh37: 7:100773886-100773886
GRCh38: 7:101130605-101130605
38 SERPINE1 NM_000602.4(SERPINE1):c.*859C>T SNV Uncertain significance 358321 rs886061837 GRCh37: 7:100781582-100781582
GRCh38: 7:101138301-101138301
39 SERPINE1 NM_000602.4(SERPINE1):c.*1443C>A SNV Uncertain significance 358335 rs886061841 GRCh37: 7:100782166-100782166
GRCh38: 7:101138885-101138885
40 SERPINE1 NM_000602.4(SERPINE1):c.*1147G>C SNV Uncertain significance 358327 rs886061838 GRCh37: 7:100781870-100781870
GRCh38: 7:101138589-101138589
41 SERPINE1 NM_000602.4(SERPINE1):c.*207C>T SNV Uncertain significance 358315 rs747135553 GRCh37: 7:100780930-100780930
GRCh38: 7:101137649-101137649
42 SERPINE1 NM_000602.4(SERPINE1):c.-93C>T SNV Uncertain significance 358305 rs556803416 GRCh37: 7:100770434-100770434
GRCh38: 7:101127153-101127153
43 SERPINE1 NM_000602.4(SERPINE1):c.*1192G>C SNV Uncertain significance 358330 rs886061840 GRCh37: 7:100781915-100781915
GRCh38: 7:101138634-101138634
44 SERPINE1 NM_000602.4(SERPINE1):c.845T>G (p.Ile282Ser) SNV Uncertain significance 358313 rs750289183 GRCh37: 7:100777120-100777120
GRCh38: 7:101133839-101133839
45 SERPINE1 NM_000602.4(SERPINE1):c.*1590A>G SNV Uncertain significance 358336 rs886061842 GRCh37: 7:100782313-100782313
GRCh38: 7:101139032-101139032
46 SERPINE1 NM_000602.4(SERPINE1):c.537C>T (p.Ala179=) SNV Uncertain significance 358310 rs376407844 GRCh37: 7:100775187-100775187
GRCh38: 7:101131906-101131906
47 SERPINE1 NM_000602.4(SERPINE1):c.*891C>T SNV Uncertain significance 358322 rs550508703 GRCh37: 7:100781614-100781614
GRCh38: 7:101138333-101138333
48 SERPINE1 NM_000602.4(SERPINE1):c.*1784del Deletion Uncertain significance 358339 rs886061844 GRCh37: 7:100782507-100782507
GRCh38: 7:101139226-101139226
49 SERPINE1 NM_000602.4(SERPINE1):c.*1155T>C SNV Uncertain significance 358328 rs886061839 GRCh37: 7:100781878-100781878
GRCh38: 7:101138597-101138597
50 SERPINE1 NM_000602.4(SERPINE1):c.*1266G>C SNV Uncertain significance 358331 rs778538888 GRCh37: 7:100781989-100781989
GRCh38: 7:101138708-101138708

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

Pathways related to Plasminogen Activator Inhibitor-1 Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 p53 signaling pathway hsa04115
2 Complement and coagulation cascades hsa04610

GO Terms for Plasminogen Activator Inhibitor-1 Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.33 SERPINF2 SERPINE1 PLAT
2 platelet alpha granule lumen GO:0031093 8.96 SERPINF2 SERPINE1
3 collagen-containing extracellular matrix GO:0062023 8.8 SERPINF2 SERPINE1 PLAT

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

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

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

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

Sources for Plasminogen Activator Inhibitor-1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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