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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

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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