KEGG DISEASE: Nijmegen breakage syndrome

DISEASE: Nijmegen breakage syndrome

Entry

H01344                      Disease

Name

Nijmegen breakage syndrome

Subgroup

Nijmegen breakage syndrome-like disorder (NBSLD)

Supergrp

Immunodeficiency associated with DNA repair defects [DS:H00094]
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]

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 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 breakage syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06506  Double-strand break repair
   H01344  Nijmegen breakage syndrome

Pathway

hsa03440

Homologous recombination

hsa03450

Non-homologous end-joining

Network

nt06506 Double-strand break repair

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

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

Reference

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

LinkDB

» Japanese version

DISEASE: Aplastic anemia

Entry

H01132                      Disease

Name

Aplastic anemia

Description

Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence of an immune-mediated destruction of hematopoiesis. Autoreactive cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority of patients with AA has heterozygous mutations in genes encoding the telomerase components TERT or TERC. Immunosuppressive therapy (IST) is one of the main treatment modalities for AA, although most patients with telomerase mutations do not respond adequately to IST.