KEGG   DISEASE: Bernard-Soulier syndrome
Entry
H00224                      Disease                                

Name
Bernard-Soulier syndrome;
Giant platelet syndrome
Description
Bernard-Soulier syndrome 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 [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00224  Bernard-Soulier syndrome
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
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: 153670 231200
Reference
  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
  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

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