Plasminogen Activator Inhibitor-1 Deficiency

Description

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 ) and urinary (PLAU ) activators of plasminogen (PLG ) (review by Mehta and Shapiro, 2008).

Clinical Features

Phenotypes and symptoms related to Plasminogen Activator Inhibitor-1 Deficiency

  • Acrania
  • Abnormal bleeding
  • Menorrhagia
  • Hyperfibrinolysis

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Plasminogen Activator Inhibitor-1 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Plasminogen Activator Inhibitor Type 1 Genotyping.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

SERPINE1
Specificity
100 %
Genes
100 %
MTHFR, FII, FV, PAI. Simultaneous analysis of the polymorphims FII (c.20210G>A), FV (p.R506Q), MTHFR (c.677C>T) and 5G/4G in the 5´UTR region of the PAI gene.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

F2, F5, MTHFR, SERPINE1
Specificity
25 %
Genes
100 %
Test for Plasminogen Activator Inhibitor I.

By CIBIC S.A. in Argentina.

SERPINE1
Specificity
100 %
Genes
100 %
PAI1 deficiency (frequent mutations on SERPINE1 gene).

By CGC Genetics in Portugal.

SERPINE1
Specificity
100 %
Genes
100 %
Plasminogen activator inhibitor-1 deficiency (sequence analysis of SERPINE1 gene).

By CGC Genetics in Portugal.

SERPINE1
Specificity
100 %
Genes
100 %
Thrombophilia, PAI-1 deficiency (polimorphisms on SERPINE1 gene).

By CGC Genetics in Portugal.

SERPINE1
Specificity
100 %
Genes
100 %
Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene).

By CGC Genetics in Portugal.

F2, F5, MTHFR, SERPINE1
Specificity
25 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, SERPINE1, VKORC1, F7, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1
Specificity
5 %
Genes
100 %
Plasminogen activator inhibitor 1.

By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic.

SERPINE1
Specificity
100 %
Genes
100 %
Plasminogen activator inhibitor type 1.

By Centogene AG - the Rare Disease Company in Germany.

SERPINE1
Specificity
100 %
Genes
100 %
Plasminogen activator inhibitor type 1 deficiency.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

SERPINE1
Specificity
100 %
Genes
100 %
Platelets, Coagulation disorders Panel.

By CeGaT GmbH in Germany.

F2, F5, VHL, ENTPD1, F11, VWF, F8, ADAMTS13, SERPINE1, TET2, ETV6, PDGFRB, F10, F12, DSG1, F13A1, SERPINC1
Specificity
6 %
Genes
100 %
Plasminogen Activator Inhibitor (4G/5G polymorphism, SERPINE1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SERPINE1
Specificity
100 %
Genes
100 %
Plasminogen activator inhibitor-1 deficiency.

By Praxis fuer Humangenetik Wien in Austria.

SERPINE1
Specificity
100 %
Genes
100 %
Plasminogen activator inhibitor-1 (PAI1) deficiency: 4G / 5G polymorphism PAI1 gene.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SERPINE1
Specificity
100 %
Genes
100 %
Plasminogen Activator Inhibitor - 4G/5G.

By Quest Diagnostics Nichols Institute Chantilly in United States.

SERPINE1
Specificity
100 %
Genes
100 %
SERPINE1.

By Fulgent Genetics Fulgent Genetics in United States.

SERPINE1
Specificity
100 %
Genes
100 %
Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

SERPINE1
Specificity
100 %
Genes
100 %
Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

SERPINE1
Specificity
100 %
Genes
100 %
PAI1 4G.

By IBC Instituto de Bioquimica Clinica SRL IBC Instituto de Bioquimica Clinica SRL in Argentina.

SERPINE1
Specificity
100 %
Genes
100 %
Genetic Study of Hereditary Thrombophilia (11 genes).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

F2, F5, MTHFR, GP1BA, SERPINE1, PROS1, F12, F13A1, SERPINC1, PROCR
Specificity
10 %
Genes
100 %
Thrombophilia Panel.

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

F2, F5, MTHFR, SERPINE1
Specificity
25 %
Genes
100 %
Thrombophilia Panel.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.

F2, F5, MTHFR, SERPINE1
Specificity
25 %
Genes
100 %
PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1 DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

SERPINE1
Specificity
100 %
Genes
100 %
PAI-1 gene polymorphism.

By Genomic Laboratory Semmelweis University in Hungary.

SERPINE1
Specificity
100 %
Genes
100 %

Alternate names

Plasminogen Activator Inhibitor-1 Deficiency Is also known as hyperfibrinolysis due to pai1 deficiency;congenital pai-1 deficiency.



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