thromboxane synthetase deficiency

(redirected from TBXAS1 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.