KEGG   DISEASE: Bernard-Soulier syndrome
Entry
H00224                      Disease                                
Name
Bernard-Soulier syndrome;
Giant platelet syndrome
  Supergrp
Macrothrombocytopenia [DS:H01740]
Description
Bernard-Soulier syndrome (BSS) is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor which is composed of 4 proteins, GP1BA, GP1BB, GP9 and GP5. The clinical feature is characterized by variable thrombocytopenia and large defective platelets.
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
    H00224  Bernard-Soulier syndrome
Pathway
hsa04611  Platelet activation
hsa04512  ECM-receptor interaction
hsa04640  Hematopoietic cell lineage
Gene
GP1BA [HSA:2811] [KO:K06261]
GP1BB [HSA:2812] [KO:K06262]
GP9 [HSA:2815] [KO:K06263]
Other DBs
ICD-11: 3B62.01
ICD-10: D69.1
OMIM: 231200 153670
Reference
PMID:18081445
  Authors
Pham A, Wang J
  Title
Bernard-Soulier syndrome: an inherited platelet disorder.
  Journal
Arch Pathol Lab Med 131:1834-6 (2007)
DOI:10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2
Reference
PMID:17109744
  Authors
Lanza F
  Title
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).
  Journal
Orphanet J Rare Dis 1:46 (2006)
DOI:10.1186/1750-1172-1-46
Reference
PMID:1730088 (GP1BA)
  Authors
Miller JL, Lyle VA, Cunningham D
  Title
Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.
  Journal
Blood 79:439-46 (1992)
Reference
PMID:8703016 (GP1BB)
  Authors
Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA
  Title
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
  Journal
J Biol Chem 271:22076-80 (1996)
DOI:10.1074/jbc.271.36.22076
Reference
PMID:9163595 (GP9)
  Authors
Noris P, Simsek S, Stibbe J, von dem Borne AE
  Title
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
  Journal
Br J Haematol 97:312-20 (1997)
DOI:10.1046/j.1365-2141.1997.582706.x

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Disease (2)   
   OMIM (2)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (5)   
   PubMed (5)   
All databases (13)   

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