| H00439 | |
| H番号 | H00439 |
| 名称 | シュバッハマン・ダイアモンド症候群 |
| 概要 | Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. In most cases, SDS is associated with mutations in SBDS, a protein involved in maturation and export of the ribosomal 60S subunit. |
| カテゴリ | リボソーム病 |
| ネットワーク | - |
| 病因遺伝子 | (SDS1) SBDS [HSA:51119] [KO:K14574] (SDS2) EFL1 [HSA:79631] [KO:K14536] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A70.0 ICD-10: D61.0 MeSH: C537330 OMIM: 260400 617941 |
| 文献 | PMID:19327581 著者 Burroughs L, Woolfrey A, Shimamura A タイトル Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. 雑誌 Hematol Oncol Clin North Am 23:233-48 (2009) DOI:10.1016/j.hoc.2009.01.007 PMID:20174677 著者 Freed EF, Bleichert F, Dutca LM, Baserga SJ タイトル When ribosomes go bad: diseases of ribosome biogenesis. 雑誌 Mol Biosyst 6:481-93 (2010) DOI:10.1039/b919670f PMID:12496757 (SBDS) 著者 Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM タイトル Mutations in SBDS are associated with Shwachman-Diamond syndrome. 雑誌 Nat Genet 33:97-101 (2003) DOI:10.1038/ng1062 PMID:28331068 (EFL1) 著者 Stepensky P, Chacon-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Mendez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sanchez-Puig N, Elpeleg O タイトル Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. 雑誌 J Med Genet 54:558-566 (2017) DOI:10.1136/jmedgenet-2016-104366 |