| H00226 | |
| H number | H00226 |
| Name | Glanzmann thrombasthenia |
| Description | Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in the integrin family receptor genes encoding platelet glycoprotein alpha-IIb or platelet glycoprotein IIIa. |
| Category | Hematologic disease |
| Network | - |
| Gene | (GT1) ITGA2B [HSA:3674] [KO:K06476] (GT2) ITGB3 [HSA:3690] [KO:K06493] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3B62.0Y ICD-10: D69.1 OMIM: 273800 619267 |
| Reference | PMID:16722529 AUTHORS Nurden AT TITLE Glanzmann thrombasthenia. JOURNAL Orphanet J Rare Dis 1:10 (2006) DOI:10.1186/1750-1172-1-10 PMID:12487785 AUTHORS Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D TITLE Glanzmann's thrombasthenia: updated. JOURNAL Platelets 13:387-93 (2002) DOI:10.1080/0953710021000024394 PMID:1702098 (ITGA2B) AUTHORS Burk CD, Newman PJ, Lyman S, Gill J, Coller BS, Poncz M TITLE A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. JOURNAL J Clin Invest 87:270-6 (1991) DOI:10.1172/JCI114982 PMID:20020534 (ITGA2B, ITGB3) AUTHORS Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C TITLE AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. JOURNAL Hum Mutat 31:237-46 (2010) DOI:10.1002/humu.21179 |