thromboxane synthetase deficiency

thromboxane synthetase deficiency

A rare autosomal recessive disorder (OMIM:274180) characterised by
haemorrhagic diathesis. 

Molecular pathology
Caused by defects of TBXAS1, which encodes a member of the cytochrome P450 monooxygenase that converts prostglandin H2 to thromboxane A2.
References in periodicals archive ?
a) Abnormalities of adhesion (platelet vessel wall interaction/adhesion) VWD Bernard Soulier syndrome (abnormal or absent GP Ib) Abnormalities of platelet aggregation Congenital afibrinogenemia Glanzmann thrombasthenia (abnormal GP Ilb/IIIa) Disorders of platelet release/signal transduction Storage pool disease Deficient dense bodies Hermansky-Pudlak syndrome Chediak-Higashi syndrome Wiskott-Aldrich syndrome Thrombocytopenia with absent radii Deficient [alpha] granules Gray platelet syndrome Deficiency of [alpha] granules and dense bodies Signal transduction defects Abnormal AA pathways Impaired AA release Cyclooxygenase deficiency Thromboxane synthetase deficiency Abnormalities of platelet membrane response Scott syndrome (a) From Rao (2).