MCID: PLS029
MIFTS: 23

Plasminogen Activator Inhibitor-1 Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Plasminogen Activator Inhibitor-1 Deficiency

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Sources:
46OMIM, 9diseasecard, 61UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 26ICD10 via Orphanet
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Aliases & Descriptions for Plasminogen Activator Inhibitor-1 Deficiency:

Name: Plasminogen Activator Inhibitor-1 Deficiency 46 9 61
Plasminogen Activator Inhibitor Type 1 Deficiency 42 20 22
 
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency 42 48
Congenital Pai-1 Deficiency 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital plasminogen activator inhibitor type 1 deficiency:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: any age


External Ids:

OMIM46 613329
Orphanet48 465
ICD10 via Orphanet26 D68.8

Summaries for Plasminogen Activator Inhibitor-1 Deficiency

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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 based summary: Plasminogen Activator Inhibitor-1 Deficiency, also known as plasminogen activator inhibitor type 1 deficiency, is related to osteogenesis imperfecta, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and menorrhagia. An important gene associated with Plasminogen Activator Inhibitor-1 Deficiency is SERPINE1 (serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1).

OMIM:46 Plasminogen inhibitor-1 deficiency is a rare autosomal recessive hematologic disorder characterized by increased... (613329) more...

Related Diseases for Plasminogen Activator Inhibitor-1 Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta10.3

Symptoms for Plasminogen Activator Inhibitor-1 Deficiency

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Symptoms by clinical synopsis from OMIM:

613329

Clinical features from OMIM:

613329

HPO human phenotypes related to Plasminogen Activator Inhibitor-1 Deficiency:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 menorrhagia HP:0000132
4 congenital onset HP:0003577

Drugs & Therapeutics for Plasminogen Activator Inhibitor-1 Deficiency

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Drug clinical trials:

Search ClinicalTrials for Plasminogen Activator Inhibitor-1 Deficiency

Search NIH Clinical Center for Plasminogen Activator Inhibitor-1 Deficiency

Genetic Tests for Plasminogen Activator Inhibitor-1 Deficiency

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Genetic tests related to Plasminogen Activator Inhibitor-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-1 Deficiency

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

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Publications for Plasminogen Activator Inhibitor-1 Deficiency

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Articles related to Plasminogen Activator Inhibitor-1 Deficiency:

idTitleAuthorsYear
1
Intraparenchymal hemorrhage in a patient with osteogenesis imperfecta and plasminogen activator inhibitor-1 deficiency. (20142533)
2010
2
Plasminogen activator inhibitor-1 deficiency has renal benefits but some adverse systemic consequences in diabetic mice. (16735799)
2006
3
Report of a case of congenital plasminogen activator inhibitor-1 deficiency]. (15182577)
2004
4
Anesthetic management of a patient with congenital plasminogen activator inhibitor-1 deficiency]. (12632627)
2003
5
Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency. (10754381)
1999

Variations for Plasminogen Activator Inhibitor-1 Deficiency

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1SERPINE1SERPINE1, 2-BP INS, 4977TAinsertionPathogenic
2SERPINE1NM_000602.4(SERPINE1): c.43G> A (p.Ala15Thr)single nucleotide variantPathogenicrs6092GRCh37Chr 7, 100771717: 100771717

Expression for genes affiliated with Plasminogen Activator Inhibitor-1 Deficiency

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

Pathways for genes affiliated with Plasminogen Activator Inhibitor-1 Deficiency

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Compounds for genes affiliated with Plasminogen Activator Inhibitor-1 Deficiency

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

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Sources for Plasminogen Activator Inhibitor-1 Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet