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
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ICD-10: |
D68.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0000132) | Menorrhagia | 40 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(OMIM) | Increased bleeding after trauma, surgery, or injury | 1 / 7739 | ||||
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(OMIM) | Bleeding defect due to decreased plasminogen activator inhibitor-1 | 1 / 7739 | ||||
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(OMIM) | Decreased euglobin lysis time | 1 / 7739 | ||||
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(OMIM) | Hematomas after trauma or injury | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(MedDRA:10016607) | Fibrinolysis increased | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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. |