| H00224 | |
| H number | H00224 |
| Name | Bernard-Soulier syndrome; Giant platelet syndrome |
| 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 |
| Network | - |
| Gene | GP1BA [HSA:2811] [KO:K06261] GP1BB [HSA:2812] [KO:K06262] GP9 [HSA:2815] [KO:K06263] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 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 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) 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 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 |