| H00224 | |
| H番号 | H00224 |
| 名称 | ベルナール・スーリエ症候群 |
| 概要 | 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. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | GP1BA [HSA:2811] [KO:K06261] GP1BB [HSA:2812] [KO:K06262] GP9 [HSA:2815] [KO:K06263] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3B62.01 ICD-10: D69.1 OMIM: 231200 153670 |
| 文献 | PMID:18081445 著者 Pham A, Wang J タイトル Bernard-Soulier syndrome: an inherited platelet disorder. 雑誌 Arch Pathol Lab Med 131:1834-6 (2007) DOI:10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2 PMID:17109744 著者 Lanza F タイトル Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). 雑誌 Orphanet J Rare Dis 1:46 (2006) DOI:10.1186/1750-1172-1-46 PMID:1730088 (GP1BA) 著者 Miller JL, Lyle VA, Cunningham D タイトル 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. 雑誌 Blood 79:439-46 (1992) PMID:8703016 (GP1BB) 著者 Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA タイトル Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. 雑誌 J Biol Chem 271:22076-80 (1996) DOI:10.1074/jbc.271.36.22076 PMID:9163595 (GP9) 著者 Noris P, Simsek S, Stibbe J, von dem Borne AE タイトル A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. 雑誌 Br J Haematol 97:312-20 (1997) DOI:10.1046/j.1365-2141.1997.582706.x |