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GTR Home > Conditions/Phenotypes > Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Synonyms
Deficiency of phospholipase A2, group IVA; GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa (summary by Adler et al., 2008 and Faioni et al., 2014). [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GURDP, PLA2G4, cPLA2, cPLA2-alpha, PLA2G4A
    Summary: phospholipase A2 group IVA

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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