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Thromboxane synthetase deficiency(BDPLT14)

MedGen UID:
98307
•Concept ID:
C0398635
•
Disease or Syndrome
Synonyms: BDPLT14; Bleeding disorder, platelet-type, 14
SNOMED CT: Thromboxane synthetase deficiency (234477002)
 
Monarch Initiative: MONDO:0013597
OMIM®: 614158

Definition

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene. [from MONDO]

Recent clinical studies

Therapy

Reorientation of prostaglandin endoperoxide metabolism by a thromboxane synthetase inhibitor: in vitro and clinical observations.
Vermylen J, Deckmyn H
Br J Clin Pharmacol 1983;15 Suppl 1(Suppl 1):17S-22S. doi: 10.1111/j.1365-2125.1983.tb02102.x. PMID: 6297527Free PMC Article

Clinical prediction guides

Reorientation of prostaglandin endoperoxide metabolism by a thromboxane synthetase inhibitor: in vitro and clinical observations.
Vermylen J, Deckmyn H
Br J Clin Pharmacol 1983;15 Suppl 1(Suppl 1):17S-22S. doi: 10.1111/j.1365-2125.1983.tb02102.x. PMID: 6297527Free PMC Article
Hereditary bleeding disorder due to a primary defect in platelet release reaction.
Wu KK, Minkoff IM, Rossi EC, Chen YC
Br J Haematol 1981 Feb;47(2):241-9. doi: 10.1111/j.1365-2141.1981.tb02785.x. PMID: 7470394

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