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Online Mendelian Inheritance in Man
| 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 |
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| ID |
http://purl.bioontology.org/ontology/OMIM/273800 |
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| 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
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| cui |
C0040015
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| Gene Locus |
17q21.32
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| Gene Symbol |
ITGA2B GP2B BDPLT2 BDPLT16 CD41B GT1
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| 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 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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| notation |
273800
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| OMIM Entry Type |
3
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| OMIM MimType Value |
pound
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| prefLabel |
GLANZMANN THROMBASTHENIA 1
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| 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]
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| tui |
T047
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