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Glanzmann thrombasthenia 1(GT1)

MedGen UID:
981753
•Concept ID:
CN300358
•
Disease or Syndrome
Synonyms: GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY; GP IIb-IIIa COMPLEX DEFICIENCY; GT1; PLATELET FIBRINOGEN RECEPTOR DEFICIENCY
 
Gene (location): ITGA2B (17q21.31)
 
Monarch Initiative: MONDO:0031332
OMIM®: 273800

Definition

Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; 173470) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene (Rosenberg et al., 1997). Genetic Heterogeneity of Glanzmann Thrombasthenia See Glanzmann thrombasthenia-2 (GT2; 619267), caused by mutation the ITGB3 gene (173470) on chromosome 17q21.32. See review by Botero et al. (2020). [from OMIM]

Professional guidelines

PubMed

Anti-α(IIb) β(3) immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations.
Fiore M, d'Oiron R, Pillois X, Alessi MC
Br J Haematol 2018 Apr;181(2):173-182. Epub 2018 Apr 2 doi: 10.1111/bjh.15087. PMID: 29611179
New Insights Into the Treatment of Glanzmann Thrombasthenia.
Poon MC, Di Minno G, d'Oiron R, Zotz R
Transfus Med Rev 2016 Apr;30(2):92-9. Epub 2016 Jan 30 doi: 10.1016/j.tmrv.2016.01.001. PMID: 26968829
Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.
Nurden AT, Pillois X, Nurden P
Expert Rev Hematol 2012 Oct;5(5):487-503. doi: 10.1586/ehm.12.46. PMID: 23146053

Recent clinical studies

Etiology

Pediatric bone marrow transplantation for leukemia and aplastic anemia. Report of 222 cases transplanted in a single center.
Gluckman E, Esperou H, Devergie A, Traineau R, Leverger G, Schaison G
Nouv Rev Fr Hematol (1978) 1989;31(2):111-4. PMID: 2671924

Prognosis

Pediatric bone marrow transplantation for leukemia and aplastic anemia. Report of 222 cases transplanted in a single center.
Gluckman E, Esperou H, Devergie A, Traineau R, Leverger G, Schaison G
Nouv Rev Fr Hematol (1978) 1989;31(2):111-4. PMID: 2671924

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    Related information

    • ClinVar
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    • 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
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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