| H01346 | |
| H番号 | H01346 |
| 名称 | ブルーム症候群; MGRISCE1 |
| 概要 | Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by severe growth deficiency, an erythematous and photosensitive facial rash, dysmorphic features such as microcephaly and malar hypoplasia, immunodeficiency and a high predisposition to various types of cancer. The function of BLM as a helicase and its role during the regulation of homologous recombination (HR) is well characterized. Recently, the role of BLM as a DNA damage sensor has been revealed. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | BLM [HSA:641] [KO:K10901] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Disorder of DNA repair system |
| リンク | ICD-11: 4A01.31 ICD-10: Q82.8 MeSH: D001816 OMIM: 210900 |
| 文献 | PMID:23543275 著者 Manthei KA, Keck JL タイトル The BLM dissolvasome in DNA replication and repair. 雑誌 Cell Mol Life Sci 70:4067-84 (2013) DOI:10.1007/s00018-013-1325-1 PMID:21050475 著者 Tikoo S, Sengupta S タイトル Time to bloom. 雑誌 Genome Integr 1:14 (2010) DOI:10.1186/2041-9414-1-14 PMID:19661064 著者 Kikuchi K, Abdel-Aziz HI, Taniguchi Y, Yamazoe M, Takeda S, Hirota K タイトル Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences. 雑誌 J Biol Chem 284:26360-7 (2009) DOI:10.1074/jbc.M109.029348 PMID:23928670 著者 Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC タイトル Bloom syndrome in short children born small for gestational age: a challenging diagnosis. 雑誌 J Clin Endocrinol Metab 98:3932-8 (2013) DOI:10.1210/jc.2013-2491 |