Online Mendelian Inheritance in Man - GLANZMANN THROMBASTHENIA 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/273800 http://purl.bioontology.org/ontology/OMIM/273800
Preferred Name	GLANZMANN THROMBASTHENIA 1
Synonyms	GT GLANZMANN THROMBASTHENIA GT1 BDPLT2 GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY BLEEDING DISORDER, PLATELET-TYPE, 2 PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY GP IIb-IIIa COMPLEX DEFICIENCY THROMBASTHENIA OF GLANZMANN AND NAEGELI PLATELET FIBRINOGEN RECEPTOR DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GT GLANZMANN THROMBASTHENIA GT1 BDPLT2 GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY BLEEDING DISORDER, PLATELET-TYPE, 2 PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY GP IIb-IIIa COMPLEX DEFICIENCY THROMBASTHENIA OF GLANZMANN AND NAEGELI PLATELET FIBRINOGEN RECEPTOR DEFICIENCY See more See less
prefLabel	GLANZMANN THROMBASTHENIA 1
Gene Symbol	ITGA2B GP2B BDPLT2 BDPLT16 CD41B GT1 See more See less
Scope Statement	Glanzmann thrombasthenia 1 and Glanzmann thrombasthenia 2 (619267) are clinically indistinguishable and have 3 clinical subtypes [MISCELLANEOUS] Type III has normal levels of integrin, but the protein is nonfunctional [MISCELLANEOUS] Type I has absent glycoprotein IIb/IIIa expression (<5% normal) [MISCELLANEOUS] Platelet alloimmunization may occur following platelet transfusion [MISCELLANEOUS] Increased frequency in French Romani, South Indian Hindus, Iraqi Jews, and Jordanian nomadic tribes [MISCELLANEOUS] Caused by mutation in the integrin, alpha-2b gene (ITGA2B, 607759.0002) [MOLECULAR BASIS] Estimated incidence of 1 in 1,000,000 (includes GT1 and GT2) [MISCELLANEOUS] Type II has reduced glycoprotein IIb/IIIa expression (5-25%) [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU075706 http://purl.bioontology.org/ontology/OMIM/MTHU020410 http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU000448 http://purl.bioontology.org/ontology/OMIM/MTHU073517 http://purl.bioontology.org/ontology/OMIM/MTHU006821 http://purl.bioontology.org/ontology/OMIM/MTHU037166 http://purl.bioontology.org/ontology/OMIM/MTHU000449 http://purl.bioontology.org/ontology/OMIM/MTHU006474 http://purl.bioontology.org/ontology/OMIM/MTHU006824 http://purl.bioontology.org/ontology/OMIM/MTHU007302 http://purl.bioontology.org/ontology/OMIM/MTHU036919 http://purl.bioontology.org/ontology/OMIM/MTHU009112 http://purl.bioontology.org/ontology/OMIM/MTHU002611 http://purl.bioontology.org/ontology/OMIM/MTHU075707 http://purl.bioontology.org/ontology/OMIM/MTHU075708 http://purl.bioontology.org/ontology/OMIM/MTHU008418 http://purl.bioontology.org/ontology/OMIM/MTHU075709 http://purl.bioontology.org/ontology/OMIM/MTHU036916 http://purl.bioontology.org/ontology/OMIM/MTHU037097 http://purl.bioontology.org/ontology/OMIM/MTHU009114 http://purl.bioontology.org/ontology/OMIM/MTHU075705 http://purl.bioontology.org/ontology/OMIM/MTHU036809 See more See less
tui	T047
Gene Locus	17q21.32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	273800
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0040015
OMIM Entry Type	3
OMIM MimType Value	pound

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