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Bleeding diathesis due to thromboxane synthesis deficiency(BDPLT13)

MedGen UID:
481244
•Concept ID:
C3279614
•
Finding
Synonyms: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR; Platelet-type bleeding disorder 13, susceptibility to
 
Gene (location): TBXA2R (19p13.3)
 
Monarch Initiative: MONDO:0013524
OMIM®: 614009
Orphanet: ORPHA220443

Definition

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). [from OMIM]

Clinical features

From HPO
Epistaxis
MedGen UID:
4996
•Concept ID:
C0014591
•
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
See: Feature record | Search on this feature
Impaired thromboxane A2 agonist-induced platelet aggregation
MedGen UID:
868736
•Concept ID:
C4023141
•
Finding
Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.
See: Feature record | Search on this feature
Ecchymosis
MedGen UID:
8524
•Concept ID:
C0013491
•
Finding
A purpuric lesion that is larger than 1 cm in diameter.
See: Feature record | Search on this feature
Bruising susceptibility
MedGen UID:
140849
•Concept ID:
C0423798
•
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBleeding diathesis due to thromboxane synthesis deficiency
Follow this link to review classifications for Bleeding diathesis due to thromboxane synthesis deficiency in Orphanet.

Recent clinical studies

Etiology

Bleeding diathesis and gastro-duodenal ulcers in inherited cytosolic phospholipase-A2 alpha deficiency.
Faioni EM, Razzari C, Zulueta A, Femia EA, Fenu L, Trinchera M, Podda GM, Pugliano M, Marongiu F, Cattaneo M
Thromb Haemost 2014 Dec;112(6):1182-9. Epub 2014 Aug 7 doi: 10.1160/TH14-04-0352. PMID: 25102815
Inherited defects in platelet signaling mechanisms.
Rao AK, Jalagadugula G, Sun L
Semin Thromb Hemost 2004 Oct;30(5):525-35. doi: 10.1055/s-2004-835673. PMID: 15497095
Studies of thromboxane B2, platelet factor 4, and fibrinopeptide A in bleeding-time blood of patients deficient in von Willebrand factor, platelet glycoproteins Ib and IIb-IIIa, and storage granules.
Weiss HJ, Lages B
Blood 1993 Jul 15;82(2):481-90. PMID: 8329704
Congenital disorders of platelet function.
Rao AK
Hematol Oncol Clin North Am 1990 Feb;4(1):65-86. PMID: 2155905
Platelet granule disorders.
White JG
Crit Rev Oncol Hematol 1986;4(4):337-77. doi: 10.1016/s1040-8428(86)80027-0. PMID: 3513985

Diagnosis

ALOX12 mutation in a family with dominantly inherited bleeding diathesis.
Mitsui T, Makino S, Tamiya G, Sato H, Kawakami Y, Takahashi Y, Meguro T, Izumino H, Sudo Y, Norota I, Ishii K, Hayasaka K
J Hum Genet 2021 Aug;66(8):753-759. Epub 2021 Feb 10 doi: 10.1038/s10038-020-00887-6. PMID: 33564083
Bleeding diathesis and gastro-duodenal ulcers in inherited cytosolic phospholipase-A2 alpha deficiency.
Faioni EM, Razzari C, Zulueta A, Femia EA, Fenu L, Trinchera M, Podda GM, Pugliano M, Marongiu F, Cattaneo M
Thromb Haemost 2014 Dec;112(6):1182-9. Epub 2014 Aug 7 doi: 10.1160/TH14-04-0352. PMID: 25102815
Inherited platelet function disorders: overview and disorders of granules, secretion, and signal transduction.
Rao AK
Hematol Oncol Clin North Am 2013 Jun;27(3):585-611. doi: 10.1016/j.hoc.2013.02.005. PMID: 23714313
The paradox of platelet activation and impaired function: platelet-von Willebrand factor interactions, and the etiology of thrombotic and hemorrhagic manifestations in essential thrombocythemia and polycythemia vera.
Michiels JJ, Berneman Z, Schroyens W, Finazzi G, Budde U, van Vliet HH
Semin Thromb Hemost 2006 Sep;32(6):589-604. doi: 10.1055/s-2006-949664. PMID: 16977569
Platelet function assays.
Rand ML, Leung R, Packham MA
Transfus Apher Sci 2003 Jun;28(3):307-17. doi: 10.1016/S1473-0502(03)00050-8. PMID: 12725958

Therapy

The paradox of platelet activation and impaired function: platelet-von Willebrand factor interactions, and the etiology of thrombotic and hemorrhagic manifestations in essential thrombocythemia and polycythemia vera.
Michiels JJ, Berneman Z, Schroyens W, Finazzi G, Budde U, van Vliet HH
Semin Thromb Hemost 2006 Sep;32(6):589-604. doi: 10.1055/s-2006-949664. PMID: 16977569
DDAVP normalized the bleeding time in patients with congenital platelet TxA2 receptor abnormality.
Fuse I, Higuchi W, Mito M, Aizawa Y
Transfusion 2003 May;43(5):563-7. doi: 10.1046/j.1537-2995.2003.00389.x. PMID: 12702175
The platelet function defect of cardiopulmonary bypass.
Kestin AS, Valeri CR, Khuri SF, Loscalzo J, Ellis PA, MacGregor H, Birjiniuk V, Ouimet H, Pasche B, Nelson MJ
Blood 1993 Jul 1;82(1):107-17. PMID: 7686785
Impaired conversion of exogenous arachidonic acid by platelets to thromboxane B2 and correction of that deficiency by interferon-alpha.
Sinzinger H, Linkesch W, Ludwig H, Gisslinger H, O'Grady J, Peskar BA
Prostaglandins 1990 Oct;40(4):351-60. doi: 10.1016/0090-6980(90)90100-a. PMID: 2126385

Prognosis

Impaired conversion of exogenous arachidonic acid by platelets to thromboxane B2 and correction of that deficiency by interferon-alpha.
Sinzinger H, Linkesch W, Ludwig H, Gisslinger H, O'Grady J, Peskar BA
Prostaglandins 1990 Oct;40(4):351-60. doi: 10.1016/0090-6980(90)90100-a. PMID: 2126385

Clinical prediction guides

Binding of galectin-1 to αIIbβ₃ integrin triggers "outside-in" signals, stimulates platelet activation, and controls primary hemostasis.
Romaniuk MA, Croci DO, Lapponi MJ, Tribulatti MV, Negrotto S, Poirier F, Campetella O, Rabinovich GA, Schattner M
FASEB J 2012 Jul;26(7):2788-98. Epub 2012 Mar 27 doi: 10.1096/fj.11-197541. PMID: 22456341
A variant form of thrombasthenia.
Tarantino MD, Corrigan JJ Jr, Glasser L, Payne CM, Jeter MA
Am J Dis Child 1991 Sep;145(9):1053-7. doi: 10.1001/archpedi.1991.02160090105034. PMID: 1908636
Impaired conversion of exogenous arachidonic acid by platelets to thromboxane B2 and correction of that deficiency by interferon-alpha.
Sinzinger H, Linkesch W, Ludwig H, Gisslinger H, O'Grady J, Peskar BA
Prostaglandins 1990 Oct;40(4):351-60. doi: 10.1016/0090-6980(90)90100-a. PMID: 2126385
Studies on platelet protein phosphorylation in patients with impaired responses to platelet agonists.
Speiser-Ellerton S, Weiss HJ
J Lab Clin Med 1990 Jan;115(1):104-11. PMID: 2105365

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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