Congenital plasminogen activator inhibitor type 1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY
Congenital PAI-1 deficiency
Number of Symptoms 9
OrphanetNr: 465
OMIM Id: 613329
ICD-10: D68.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hemorrhagic disorder due to a constitutional coagulation factors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000132) Menorrhagia 40 / 7739
2
(HPO:0003577) Congenital onset 133 / 7739
3
(OMIM) Increased bleeding after trauma, surgery, or injury 1 / 7739
4
(OMIM) Bleeding defect due to decreased plasminogen activator inhibitor-1 1 / 7739
5
(OMIM) Decreased euglobin lysis time 1 / 7739
6
(OMIM) Hematomas after trauma or injury 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(MedDRA:10016607) Fibrinolysis increased 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Schleef et al. (1989) reported an elderly man with a history of lifelong severe bleeding after surgery or trauma and with evidence of persistent increased fibrinolysis. Laboratory studies showed decreased binding of plasminogen activator inhibitor to radiolabeled tissue ...
Molecular genetics OMIM In affected members of an Amish family with PAI1 deficiency, Fay et al. (1992, 1997) identified a homozygous frameshift mutation in the SERPINE1 gene (173360.0001) resulting in complete absence of the protein.