MCID: PLS029
MIFTS: 40

Plasminogen Activator Inhibitor-1 Deficiency

Categories: Genetic diseases, Rare diseases, Blood 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 75 13 73
Plasminogen Activator Inhibitor Type 1 Deficiency 53 29 6
Hyperfibrinolysis Due to Pai1 Deficiency 57 53
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency 59
Plasminogen Activator Inhibitor Type 1 Deficiency 37
Deficiency, Plasminogen Activator Inhibitor-1 40
Plasminogen Activator Inhibitor 1 Deficiency 53
Plasminogen Activator Inhibitor, Type I 13
Congenital Pai-1 Deficiency 59
Pai-1 Deficiency 53
Pai1 Deficiency 53
Pai-1d 75

Characteristics:

Orphanet epidemiological data:

59
congenital plasminogen activator inhibitor type 1 deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 57 613329
Orphanet 59 ORPHA465
UMLS via Orphanet 74 C2750067
ICD10 via Orphanet 34 D68.8
MedGen 42 C2750067
MeSH 44 D025861
KEGG 37 H01106
SNOMED-CT via HPO 69 263681008 258211005 386692008
UMLS 73 C2750067

Summaries for Plasminogen Activator Inhibitor-1 Deficiency

NIH Rare Diseases : 53 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 plasminogen activator inhibitor type 1 deficiency, is related to acute myocardial infarction and myocardial infarction. 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 testes, endothelial and heart, and related phenotype is menorrhagia.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 49)
# Related Disease Score Top Affiliating Genes
1 acute myocardial infarction 28.3 PLAT SERPINE1 SERPINF2
2 myocardial infarction 28.1 PLAT SERPINE1 SERPINF2
3 complete plasminogen activator inhibitor 1 deficiency 11.3
4 type i 10.4
5 angina pectoris 10.0 SERPINE1 SERPINF2
6 factor xiii deficiency 10.0 SERPINE1 SERPINF2
7 endotheliitis 9.9
8 diabetes mellitus, noninsulin-dependent 9.8
9 brittle bone disorder 9.8
10 microvascular complications of diabetes 3 9.8
11 microvascular complications of diabetes 4 9.8
12 microvascular complications of diabetes 6 9.8
13 microvascular complications of diabetes 7 9.8
14 osteoarthritis 9.8
15 pneumonia 9.8
16 chordoma 9.8
17 melioidosis 9.8
18 choroiditis 9.8
19 fibrosarcoma 9.8
20 platelet aggregation, spontaneous 9.8 PLAT SERPINF2
21 intracranial embolism 9.8 PLAT SERPINF2
22 marantic endocarditis 9.7 PLAT SERPINF2
23 fibrinolytic defect 9.7 PLAT SERPINE1
24 argentine hemorrhagic fever 9.7 PLAT SERPINE1
25 central serous chorioretinopathy 9.7 PLAT SERPINE1
26 carotid artery thrombosis 9.6 PLAT SERPINE1
27 coronary thrombosis 9.6 PLAT SERPINE1
28 chronic venous insufficiency 9.6 PLAT SERPINE1
29 hepatic veno-occlusive disease 9.6 PLAT SERPINE1
30 venous insufficiency 9.6 PLAT SERPINE1
31 thrombophilia due to thrombin defect 9.5 PLAT SERPINE1
32 peripheral vascular disease 9.5 PLAT SERPINE1
33 arteries, anomalies of 9.5 PLAT SERPINE1
34 thrombosis 9.5 PLAT SERPINE1
35 hellp syndrome 9.4 PLAT SERPINE1
36 cerebrovascular disease 9.4 PLAT SERPINE1
37 hypertension, essential 9.4 PLAT SERPINE1
38 vascular disease 9.3 PLAT SERPINE1
39 coronary artery anomaly 9.2 PLAT SERPINE1
40 pre-eclampsia 9.1 PLAT SERPINE1
41 acute cor pulmonale 9.1 PLAT SERPINE1 SERPINF2
42 thrombophlebitis 9.1 PLAT SERPINE1 SERPINF2
43 acute pulmonary heart disease 9.1 PLAT SERPINE1 SERPINF2
44 thrombophilia due to activated protein c resistance 9.1 PLAT SERPINE1 SERPINF2
45 disseminated intravascular coagulation 9.1 PLAT SERPINE1 SERPINF2
46 pulmonary embolism 9.1 PLAT SERPINE1 SERPINF2
47 thrombophilia 9.1 PLAT SERPINE1 SERPINF2
48 stroke, ischemic 9.0 PLAT SERPINE1 SERPINF2
49 pulmonary hypertension 8.9 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 via clinical synopsis from OMIM:

57
Hematology:
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
increased fibrinolysis
more

Clinical features from OMIM:

613329

Human phenotypes related to Plasminogen Activator Inhibitor-1 Deficiency:

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

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

Genetic tests related to Plasminogen Activator Inhibitor-1 Deficiency:

# Genetic test Affiliating Genes
1 Plasminogen Activator Inhibitor Type 1 Deficiency 29 SERPINE1

Anatomical Context for Plasminogen Activator Inhibitor-1 Deficiency

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

41
Testes, Endothelial, Heart, Brain, Lung, Bone, Smooth Muscle

Publications for Plasminogen Activator Inhibitor-1 Deficiency

Articles related to Plasminogen Activator Inhibitor-1 Deficiency:

(show all 18)
# Title Authors Year
1
Plasminogen activator inhibitor-1 deficiency enhances subchondral osteopenia after induction of osteoarthritis in mice. ( 28893232 )
2017
2
Organizing empyema induced in mice by Streptococcus pneumoniae: effects of plasminogen activator inhibitor-1 deficiency. ( 27271877 )
2016
3
High-fat Diet Enhances and Plasminogen Activator Inhibitor-1 Deficiency Attenuates Bone Loss in Mice with Lewis Lung Carcinoma. ( 26124329 )
2015
4
Plasminogen activator inhibitor-1 deficiency ameliorates insulin resistance and hyperlipidemia but not bone loss in obese female mice. ( 24605827 )
2014
5
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
6
Life-threatening hemorrhage and prolonged wound healing are remarkable phenotypes manifested by complete plasminogen activator inhibitor-1 deficiency in humans. ( 21486382 )
2011
7
Intraparenchymal hemorrhage in a patient with osteogenesis imperfecta and plasminogen activator inhibitor-1 deficiency. ( 20142533 )
2010
8
Neither fibrin nor plasminogen activator inhibitor-1 deficiency protects lung function in a mouse model of acute lung injury. ( 19060228 )
2009
9
Plasminogen activator inhibitor-1 deficiency protects against aldosterone-induced glomerular injury. ( 16528256 )
2006
10
Plasminogen activator inhibitor-1 deficiency has renal benefits but some adverse systemic consequences in diabetic mice. ( 16735799 )
2006
11
Effect of plasminogen activator inhibitor-1 deficiency on nutritionally-induced obesity in mice. ( 15886793 )
2005
12
Plasminogen activator inhibitor-1 deficiency retards diabetic nephropathy. ( 15780082 )
2005
13
[Report of a case of congenital plasminogen activator inhibitor-1 deficiency]. ( 15182577 )
2004
14
Plasminogen activator inhibitor-1 deficiency enhances flow-induced smooth muscle cell migration. ( 15262486 )
2004
15
[Anesthetic management of a patient with congenital plasminogen activator inhibitor-1 deficiency]. ( 12632627 )
2003
16
Plasminogen activator inhibitor-1 deficiency prevents hypertension and vascular fibrosis in response to long-term nitric oxide synthase inhibition. ( 11502712 )
2001
17
Plasminogen activator inhibitor-1 deficiency protects against atherosclerosis progression in the mouse carotid artery. ( 11110693 )
2000
18
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
(show top 50) (show all 77)
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINE1 SERPINE1, 2-BP INS, 4977TA insertion Pathogenic
2 SERPINE1 NM_000602.4(SERPINE1): c.49G> A (p.Val17Ile) single nucleotide variant Likely benign rs6090 GRCh37 Chromosome 7, 100771723: 100771723
3 SERPINE1 NM_000602.4(SERPINE1): c.49G> A (p.Val17Ile) single nucleotide variant Likely benign rs6090 GRCh38 Chromosome 7, 101128442: 101128442
4 SERPINE1 NM_000602.4(SERPINE1): c.537C> T (p.Ala179=) single nucleotide variant Uncertain significance rs376407844 GRCh37 Chromosome 7, 100775187: 100775187
5 SERPINE1 NM_000602.4(SERPINE1): c.537C> T (p.Ala179=) single nucleotide variant Uncertain significance rs376407844 GRCh38 Chromosome 7, 101131906: 101131906
6 SERPINE1 NM_000602.4(SERPINE1): c.555G> C (p.Arg185=) single nucleotide variant Likely benign rs201293550 GRCh37 Chromosome 7, 100775205: 100775205
7 SERPINE1 NM_000602.4(SERPINE1): c.555G> C (p.Arg185=) single nucleotide variant Likely benign rs201293550 GRCh38 Chromosome 7, 101131924: 101131924
8 SERPINE1 NM_000602.4(SERPINE1): c.*207C> T single nucleotide variant Uncertain significance rs747135553 GRCh37 Chromosome 7, 100780930: 100780930
9 SERPINE1 NM_000602.4(SERPINE1): c.*207C> T single nucleotide variant Uncertain significance rs747135553 GRCh38 Chromosome 7, 101137649: 101137649
10 SERPINE1 NM_000602.4(SERPINE1): c.*1186C> T single nucleotide variant Likely benign rs2227714 GRCh38 Chromosome 7, 101138628: 101138628
11 SERPINE1 NM_000602.4(SERPINE1): c.*1186C> T single nucleotide variant Likely benign rs2227714 GRCh37 Chromosome 7, 100781909: 100781909
12 SERPINE1 NM_000602.4(SERPINE1): c.*1192G> C single nucleotide variant Uncertain significance rs886061840 GRCh38 Chromosome 7, 101138634: 101138634
13 SERPINE1 NM_000602.4(SERPINE1): c.*1192G> C single nucleotide variant Uncertain significance rs886061840 GRCh37 Chromosome 7, 100781915: 100781915
14 SERPINE1 NM_000602.4(SERPINE1): c.*1295C> T single nucleotide variant Uncertain significance rs372017980 GRCh38 Chromosome 7, 101138737: 101138737
15 SERPINE1 NM_000602.4(SERPINE1): c.*1295C> T single nucleotide variant Uncertain significance rs372017980 GRCh37 Chromosome 7, 100782018: 100782018
16 SERPINE1 NM_000602.4(SERPINE1): c.*1443C> A single nucleotide variant Uncertain significance rs886061841 GRCh37 Chromosome 7, 100782166: 100782166
17 SERPINE1 NM_000602.4(SERPINE1): c.*1443C> A single nucleotide variant Uncertain significance rs886061841 GRCh38 Chromosome 7, 101138885: 101138885
18 SERPINE1 NM_000602.4(SERPINE1): c.-54C> T single nucleotide variant Uncertain significance rs760811030 GRCh37 Chromosome 7, 100770473: 100770473
19 SERPINE1 NM_000602.4(SERPINE1): c.-54C> T single nucleotide variant Uncertain significance rs760811030 GRCh38 Chromosome 7, 101127192: 101127192
20 SERPINE1 NM_000602.4(SERPINE1): c.649G> A (p.Gly217Ser) single nucleotide variant Uncertain significance rs766181190 GRCh37 Chromosome 7, 100775299: 100775299
21 SERPINE1 NM_000602.4(SERPINE1): c.649G> A (p.Gly217Ser) single nucleotide variant Uncertain significance rs766181190 GRCh38 Chromosome 7, 101132018: 101132018
22 SERPINE1 NM_000602.4(SERPINE1): c.*361T> C single nucleotide variant Benign rs11178 GRCh37 Chromosome 7, 100781084: 100781084
23 SERPINE1 NM_000602.4(SERPINE1): c.*361T> C single nucleotide variant Benign rs11178 GRCh38 Chromosome 7, 101137803: 101137803
24 SERPINE1 NM_000602.4(SERPINE1): c.*950C> T single nucleotide variant Uncertain significance rs536144892 GRCh37 Chromosome 7, 100781673: 100781673
25 SERPINE1 NM_000602.4(SERPINE1): c.*950C> T single nucleotide variant Uncertain significance rs536144892 GRCh38 Chromosome 7, 101138392: 101138392
26 SERPINE1 NM_000602.4(SERPINE1): c.*1590A> G single nucleotide variant Uncertain significance rs886061842 GRCh37 Chromosome 7, 100782313: 100782313
27 SERPINE1 NM_000602.4(SERPINE1): c.*1590A> G single nucleotide variant Uncertain significance rs886061842 GRCh38 Chromosome 7, 101139032: 101139032
28 SERPINE1 NM_000602.4(SERPINE1): c.*1668G> C single nucleotide variant Uncertain significance rs886061843 GRCh37 Chromosome 7, 100782391: 100782391
29 SERPINE1 NM_000602.4(SERPINE1): c.*1668G> C single nucleotide variant Uncertain significance rs886061843 GRCh38 Chromosome 7, 101139110: 101139110
30 SERPINE1 NM_000602.4(SERPINE1): c.*508C> A single nucleotide variant Uncertain significance rs886061836 GRCh37 Chromosome 7, 100781231: 100781231
31 SERPINE1 NM_000602.4(SERPINE1): c.*508C> A single nucleotide variant Uncertain significance rs886061836 GRCh38 Chromosome 7, 101137950: 101137950
32 SERPINE1 NM_000602.4(SERPINE1): c.*752C> A single nucleotide variant Likely benign rs374321581 GRCh37 Chromosome 7, 100781475: 100781475
33 SERPINE1 NM_000602.4(SERPINE1): c.*752C> A single nucleotide variant Likely benign rs374321581 GRCh38 Chromosome 7, 101138194: 101138194
34 SERPINE1 NM_000602.4(SERPINE1): c.*892G> A single nucleotide variant Likely benign rs1050813 GRCh37 Chromosome 7, 100781615: 100781615
35 SERPINE1 NM_000602.4(SERPINE1): c.*892G> A single nucleotide variant Likely benign rs1050813 GRCh38 Chromosome 7, 101138334: 101138334
36 SERPINE1 NM_000602.4(SERPINE1): c.*1388G> A single nucleotide variant Uncertain significance rs71557295 GRCh38 Chromosome 7, 101138830: 101138830
37 SERPINE1 NM_000602.4(SERPINE1): c.*1388G> A single nucleotide variant Uncertain significance rs71557295 GRCh37 Chromosome 7, 100782111: 100782111
38 SERPINE1 NM_000602.4(SERPINE1): c.-101G> A single nucleotide variant Uncertain significance rs886061835 GRCh37 Chromosome 7, 100770426: 100770426
39 SERPINE1 NM_000602.4(SERPINE1): c.-101G> A single nucleotide variant Uncertain significance rs886061835 GRCh38 Chromosome 7, 101127145: 101127145
40 SERPINE1 NM_000602.4(SERPINE1): c.-93C> T single nucleotide variant Uncertain significance rs556803416 GRCh37 Chromosome 7, 100770434: 100770434
41 SERPINE1 NM_000602.4(SERPINE1): c.-93C> T single nucleotide variant Uncertain significance rs556803416 GRCh38 Chromosome 7, 101127153: 101127153
42 SERPINE1 NM_000602.4(SERPINE1): c.191C> T (p.Ser64Leu) single nucleotide variant Uncertain significance rs758271488 GRCh37 Chromosome 7, 100771865: 100771865
43 SERPINE1 NM_000602.4(SERPINE1): c.191C> T (p.Ser64Leu) single nucleotide variant Uncertain significance rs758271488 GRCh38 Chromosome 7, 101128584: 101128584
44 SERPINE1 NM_000602.4(SERPINE1): c.456G> C (p.Val152=) single nucleotide variant Uncertain significance rs200318916 GRCh37 Chromosome 7, 100773886: 100773886
45 SERPINE1 NM_000602.4(SERPINE1): c.456G> C (p.Val152=) single nucleotide variant Uncertain significance rs200318916 GRCh38 Chromosome 7, 101130605: 101130605
46 SERPINE1 NM_000602.4(SERPINE1): c.845T> G (p.Ile282Ser) single nucleotide variant Uncertain significance rs750289183 GRCh38 Chromosome 7, 101133839: 101133839
47 SERPINE1 NM_000602.4(SERPINE1): c.845T> G (p.Ile282Ser) single nucleotide variant Uncertain significance rs750289183 GRCh37 Chromosome 7, 100777120: 100777120
48 SERPINE1 NM_000602.4(SERPINE1): c.1020C> T (p.Val340=) single nucleotide variant Uncertain significance rs201351580 GRCh37 Chromosome 7, 100779015: 100779015
49 SERPINE1 NM_000602.4(SERPINE1): c.1020C> T (p.Val340=) single nucleotide variant Uncertain significance rs201351580 GRCh38 Chromosome 7, 101135734: 101135734
50 SERPINE1 NM_000602.4(SERPINE1): c.*690T> C single nucleotide variant Likely benign rs7241 GRCh37 Chromosome 7, 100781413: 100781413

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:

37
# 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 PLAT SERPINE1 SERPINF2
2 extracellular matrix GO:0031012 8.96 PLAT SERPINE1
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:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 9.37 SERPINE1 SERPINF2
2 negative regulation of peptidase activity GO:0010466 9.32 SERPINE1 SERPINF2
3 platelet degranulation GO:0002576 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:

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

Sources for Plasminogen Activator Inhibitor-1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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