H00514 | |
H番号 | H00514 |
名称 | ブルック症候群 |
概要 | Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing arthrogryposis multiplex congenita. |
カテゴリ | 先天奇形 |
ネットワーク | - |
病因遺伝子 | PLOD2 [HSA:5352] [KO:K13645] FKBP10 [HSA:60681] [KO:K09575] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: LD24.KY ICD-10: Q78.0 MeSH: C537406 C537407 OMIM: 609220 |
文献 | PMID:15523624 著者 Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L タイトル Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. 雑誌 Am J Med Genet A 131:115-20 (2004) DOI:10.1002/ajmg.a.30231 PMID:21567934 著者 Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS タイトル Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. 雑誌 Am J Med Genet A 155A:1448-52 (2011) DOI:10.1002/ajmg.a.34025 |