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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Impaired thromboxane A2 agonist-induced platelet aggregation

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of thrombocytes
    - Abnormal platelet function
      - Abnormal platelet aggregation
        Impaired platelet aggregation
        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 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).

See: Condition Record

Bleeding disorder, platelet-type, 13, susceptibility to

Recent clinical studies

Diagnosis

Homologous desensitization of signalling by the beta (beta) isoform of the human thromboxane A2 receptor.

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

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Clinical prediction guides

Noncanonical Sonic Hedgehog signaling amplifies platelet reactivity and thrombogenicity.

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: 35704688 Free PMC Article

Ask1 regulates murine platelet granule secretion, thromboxane A(2) generation, and thrombus formation.

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: 28028021 Free PMC Article

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Impaired thromboxane A2 agonist-induced platelet aggregation

Definition

Term Hierarchy

Conditions with this feature

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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