KEGG   DISEASE: Glanzmann thrombasthenia
Entry
H00226                      Disease                                
Name
Glanzmann thrombasthenia
  Supergrp
Bleeding disorder platelet-type [DS:H01235]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   3B62  Qualitative platelet defects
    H00226  Glanzmann thrombasthenia
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06535  Efferocytosis
   H00226  Glanzmann thrombasthenia
Pathway
hsa04148  Efferocytosis
hsa04510  Focal adhesion
hsa04613  Neutrophil extracellular trap formation
hsa04640  Hematopoietic cell lineage
hsa04611  Platelet activation
hsa04512  ECM-receptor interaction
Network
nt06535 Efferocytosis
Gene
(GT1) ITGA2B [HSA:3674] [KO:K06476]
(GT2) ITGB3 [HSA:3690] [KO:K06493]
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
Reference
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
Reference
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
Reference
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
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