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Impaired thromboxane A2 agonist-induced platelet aggregation

MedGen UID:
868736
Concept ID:
C4023141
Finding
HPO: HP:0011894

Definition

Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Impaired thromboxane A2 agonist-induced platelet aggregation

Conditions with this feature

Bleeding disorder, platelet-type, 13, susceptibility to
MedGen UID:
481244
Concept ID:
C3279614
Finding
Susceptibility to platelet-type bleeding disorder-13 (BDPLT13) is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by Mumford et al., 2010).

Recent clinical studies

Diagnosis

Kelley-Hickie LP, Kinsella BT
Biochim Biophys Acta 2006 Sep;1761(9):1114-31. Epub 2006 Aug 3 doi: 10.1016/j.bbalip.2006.07.012. PMID: 16956790

Clinical prediction guides

Tiwari A, Gautam D, Kulkarni PP, Ekhlak M, Sonkar VK, Agrawal V, Dash D
Blood Adv 2022 Sep 13;6(17):5024-5040. doi: 10.1182/bloodadvances.2021006560. PMID: 35704688Free PMC Article
Naik MU, Patel P, Derstine R, Turaga R, Chen X, Golla K, Neeves KB, Ichijo H, Naik UP
Blood 2017 Mar 2;129(9):1197-1209. Epub 2016 Dec 27 doi: 10.1182/blood-2016-07-729780. PMID: 28028021Free PMC Article

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