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): Gene(s) directly associated with this condition or phenotype.	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

Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders.

Fiore M, Giraudet JS, Alessi MC, Falaise C, Desprez D, d'Oiron R, Voisin S, Hurtaud MF, Boutroux H, Saultier P, Lavenu-Bombled C, Bagou G, Dubucs X, Chauvin A, Leroy C, Meckert F, Kerbaul F, Giraud N, Pühler A, Rath A
Orphanet J Rare Dis 2023 Jun 29;18(1):171. doi: 10.1186/s13023-023-02787-2. PMID: 37386449 Free PMC Article

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

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

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