| H01344 | |
| H number | H01344 |
| Name | Nijmegen breakage syndrome |
| Description | 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. |
| Category | Immune system disease |
| Network | nt06506(H01344) Double-strand break repair |
| Gene | (NBS) NBN (Nibrin) [HSA:4683] [KO:K10867] (NBSLD) RAD50 [HSA:10111] [KO:K10866] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Disorder of DNA repair system |
| Other DBs | ICD-11: 4A01.31 ICD-10: D82.8 MeSH: D049932 C567767 OMIM: 251260 613078 |
| Reference | PMID:22373003 (NBS) AUTHORS Chrzanowska KH, Gregorek H, Dembowska-Baginska B, Kalina MA, Digweed M TITLE Nijmegen breakage syndrome (NBS). JOURNAL Orphanet J Rare Dis 7:13 (2012) DOI:10.1186/1750-1172-7-13 PMID:19409520 (NBSLD) AUTHORS Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dork T TITLE Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. JOURNAL Am J Hum Genet 84:605-16 (2009) DOI:10.1016/j.ajhg.2009.04.010 |