KEGG   DISEASE: Nijmegen syndromeHelp
Entry
H01344                      Disease                                

Name
Nijmegen syndrome
  Subgroup
Nijmegen breakage syndrome (NBS)
Nijmegen breakage syndrome-llke disorder (NBSLD)
  Supergrp
Immunodeficiency associated with DNA repair defects [DS:H00094]
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
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01344  Nijmegen syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01344  Nijmegen syndrome
BRITE hierarchy
Pathway
hsa03440  Homologous recombination
hsa03450  Non-homologous end-joining
Gene
(NBS) NBN (Nibrin) [HSA:4683] [KO:K10867]
(NBSLD) RAD50 [HSA:10111] [KO:K10866]
Comment
Disorder of DNA repair system
Other DBs
ICD-11: 4A01.31
ICD-10: D82.8
MeSH: D049932 C567767
OMIM: 251260 613078
Reference
  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
Reference
  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

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