| H01344 | |
| H番号 | H01344 |
| 名称 | ナイミーヘン染色体不安定症候群 |
| 概要 | Nijmegen Breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, immunodeficiency, radiosensitivity, and cancer predisposition. Due to a founder mutation in the NBN gene, the disease is encountered most frequently among Slavic populations. Recently, a disease due to RAD50 deficiency has been reported. The patient displayed symptoms similar to NBS, microcephaly, mental retardation, bird-like face, and short stature. The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | nt06506(H01344) Double-strand break repair |
| 病因遺伝子 | (NBS) NBN (Nibrin) [HSA:4683] [KO:K10867] (NBSLD) RAD50 [HSA:10111] [KO:K10866] |
| 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: D82.8 MeSH: D049932 C567767 OMIM: 251260 613078 |
| 文献 | PMID:22373003 (NBS) 著者 Chrzanowska KH, Gregorek H, Dembowska-Baginska B, Kalina MA, Digweed M タイトル Nijmegen breakage syndrome (NBS). 雑誌 Orphanet J Rare Dis 7:13 (2012) DOI:10.1186/1750-1172-7-13 PMID:19409520 (NBSLD) 著者 Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dork T タイトル Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 雑誌 Am J Hum Genet 84:605-16 (2009) DOI:10.1016/j.ajhg.2009.04.010 |