Plasminogen activator inhibitor-1 deficiency

Preferred Label : Plasminogen activator inhibitor-1 deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperfibrinolysis due to pai1 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; 173370) and urinary (PLAU; 191840) activators of plasminogen (PLG; 173350) (review by Mehta and Shapiro, 2008).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the serpin peptidase inhibitor, clade E, member 1 gene (SERPINE1, 173360.0001);

Prefixed ID : #613329;

Détails

Origin ID

613329;

UMLS CUI

C2750067;

Automatic exact mappings (from CISMeF team)
- Plasminogen Activator Inhibitor-1 Deficiency [NCIt concept]
Currated CISMeF NLP mapping
- Congenital plasminogen activator inhibitor deficiency type 1 (disorder) [SNOMED CT concept]
- Congenital plasminogen activator inhibitor type 1 deficiency [ORDO Disease]
- plasminogen activator Inhibitor-1 deficiency [MeSH concept]
- plasminogen activator Inhibitor-1 deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Serpin peptidase inhibitor, clade e (nexin, plasminogen activator inhibitor type 1), member 1 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Menorrhagia [HPO term]
ORDO concept(s)
- Congenital plasminogen activator inhibitor type 1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital plasminogen activator inhibitor type 1 deficiency [ORDO Disease]
- Plasminogen Activator Inhibitor-1 Deficiency [NCIt concept]
- plasminogen activator Inhibitor-1 deficiency [MeSH Supplementary Concept]
- plasminogen activator Inhibitor-1 deficiency [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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