NBS
MCID: NJM001
MIFTS: 74

Nijmegen Breakage Syndrome (NBS) malady

Fetal diseases, Blood diseases, Cancer diseases, Immune diseases categories

Summaries for Nijmegen Breakage Syndrome

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.

MalaCards: Nijmegen Breakage Syndrome, also known as berlin breakage syndrome, is related to ataxia telangiectasia and leukemia, and has symptoms including excessive freckling, skin photosensitivity and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. An important gene associated with Nijmegen Breakage Syndrome is NBN (nibrin), and among its related pathways are Global Genomic NER (GG-NER) and Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex. The compounds neocarzinostatin and mononucleotide have been mentioned in the context of this disorder. Affiliated tissues include t cells, lung and skin, and related mouse phenotypes are embryogenesis and reproductive system.

Wikipedia:63 Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome and Seemanova syndrome, is a... more...

Description from OMIM:46 251260

GeneReviews summary for nijmegen

Aliases & Classifications for Nijmegen Breakage Syndrome

About this section
Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Cancer diseases
Anatomical: Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

48
nijmegen breakage syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

nijmegen breakage syndrome 8 9 19 42 20 21 46 10 44 48 60
berlin breakage syndrome 8 19 42 21 48
immunodeficiency, microcephaly with normal intelligence 42 22
microcephaly, normal intelligence and immunodeficiency 8 21
ataxia-telangiectasia variant 1 19 21
seemanova syndrome 8 21
microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies 42
nonsyndromal microcephaly autosomal recessive with normal intelligence 42
immunodeficiency - microcephaly - chromosomal instability 48
microcephaly - immunodeficiency - lymphoreticuloma 48
microcephaly immunodeficiency lymphoreticuloma 42
ataxia-telangiectasia variant v1 42
ataxia-telangiectasia, variant 1 48
ataxia-telangiectasia variant 6 60
seemanova syndrome type 2 48
at v1 48
nbs 48


External Ids:

Disease Ontology8 DOID:7400
OMIM46 251260
MeSH34 D049932
NCIt39 C4692
SNOMED-CT56 234638009
MESH via Orphanet35 D049932, C531759
SNOMED-CT via Orphanet57 234638009
UMLS via Orphanet61 C0398791, C2930831

Related Diseases for Nijmegen Breakage Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Nijmegen Breakage Syndrome family:

Nijmegen Breakage Syndrome-Like Disorder

Diseases related to Nijmegen Breakage Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia telangiectasia31.2RAD50, RPA1, BRCA1, MRE11A, H2AFX, BLM
2leukemia30.9NBN, RPA1, TERF2, H2AFX, NQO1, AICDA
3nijmegen breakage syndrome-like disorder30.8RAD50
4microcephaly30.8MRE11A, ATM, LIG4, RAD50, NBN
5acute leukemia30.8TERF2, NQO1, ATM, E2F1
6breast cancer30.8CHEK2, ATM
7adenocarcinoma30.6BRCA1, MRE11A, E2F1, CHEK2, NQO1, H2AFX
8myeloid leukemia30.3NQO1, E2F1
9aplastic anemia30.3BRCA1
10non-hodgkin lymphoma30.3E2F1, ATM, AICDA, NQO1, TERF2, NBN
11prostate cancer30.3BRCA1, E2F1, ATM, DCLRE1C, LIG4, CHEK2
12fanconi syndrome10.6
13lymphoblastic leukemia10.5
14ataxia telangiectasia variant v110.5
15childhood leukemia10.5
16medulloblastoma10.5
17prostate adenocarcinoma10.4
18neuroblastoma10.4
19hodgkin's lymphoma10.4
20t-cell leukemia10.4
21vitiligo10.3
22nephroblastoma10.3
23acute myeloid leukemia10.2
24neuronitis10.2
25juvenile rheumatoid arthritis10.2
26adult syndrome10.2
27adult lymphoma10.2
28porokeratosis10.2
29arthritis10.2
30cholangiocarcinoma10.2
31hepatocellular carcinoma10.2
32intrahepatic cholangiocarcinoma10.2
33prolymphocytic leukemia10.2
34prostatitis10.2
35rhabdomyosarcoma10.2
36rheumatoid arthritis10.2
37thrombophlebitis10.2
38tuberculosis10.2
39image syndrome10.2
40nonsyndromic hearing loss and deafness, dfna310.2
41mycosis fungoides10.1
42hemolytic anemia10.1
43pancreatitis10.0NQO1
44lynch syndrome10.0BRCA1
45multiple sclerosis10.0RPA1
46early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.0MRE11A, NBN
47seckel syndrome10.0LIG4, ATM
48deficiency anemia10.0FANCD2, FANCB, BRCA1
49sarcoma10.0CHEK2, WRN, E2F1
50li-fraumeni syndrome10.0BRCA1, ATM, CHEK2

Graphical network of the top 20 diseases related to Nijmegen Breakage Syndrome:



Diseases related to nijmegen breakage syndrome

Clinical Features for Nijmegen Breakage Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

251260

Clinical synopsis from OMIM:

251260

Symptoms:

48 (show all 44)
  • excessive freckling
  • skin photosensitivity
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • neoplasms/tumors
  • thymic aplasia/hypoplasia
  • short stature/dwarfism/nanism
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • muscle anomalies
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • glial tumor/glioblastoma
  • medulloblastoma
  • lymphoma
  • acute leukemia
  • long/large/bulbous nose
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • chromosome breakage
  • short neck
  • anomalies of ear and hearing
  • philtrum deeply grooved
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • depressed nasal bridge
  • beaked nose
  • micrognathia/retrognathia/micrognathism/retrognathism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • face/facial anomalies
  • low hair line-front
  • sloping forehead
  • hair and scalp anomalies
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • autosomal recessive inheritance
  • thrombocytopenia/thrombopenia
  • hemolytic anemia
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • hyperactivity/attention deficit
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • repeat respiratory infections
  • malabsorption/chronic diarrhea/steatorrhea
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • anus/rectum anomalies
  • microcephaly

Drugs & Therapeutics for Nijmegen Breakage Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Nijmegen Breakage Syndrome

Drug clinical trials:

Search ClinicalTrials for Nijmegen Breakage Syndrome

Search NIH Clinical Center for Nijmegen Breakage Syndrome

Search CenterWatch for Nijmegen Breakage Syndrome

Genetic Tests for Nijmegen Breakage Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Nijmegen Breakage Syndrome:

id Genetic test Affiliating Genes
1 Nijmegen Breakage Syndrome20 NBN
2 Microcephaly, Normal Intelligence and Immunodeficiency22

Anatomical Context for Nijmegen Breakage Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

32
T cells, Lung, Skin, Breast, Brain, Prostate, Testes, B cells, Myeloid

Animal Models for Nijmegen Breakage Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.9BLM, LIG1, MRE11A
2MP:00053899.8BRCA1, E2F1, FANCD2, WRN, LIG4, H2AFX
3MP:00020069.8RPA1, E2F1, FANCD2, LIG1, CHEK2, AICDA
4MP:00053799.7BRCA1, E2F1, FANCD2, ATM, H2AFX, NBN
5MP:00107719.7E2F1, WRN, LIG1, AICDA, BLM, NQO1
6MP:00053789.3BRCA1, E2F1, FANCD2, WRN, ATM, LIG4
7MP:00053979.0LIG1, CHEK2, AICDA, BLM, NQO1, H2AFX
8MP:00107688.9ATM, WRN, FANCD2, E2F1, MRE11A, BRCA1
9MP:00053878.9RPA1, BRCA1, MRE11A, E2F1, FANCD2, WRN
10MP:00053848.8WRN, ATM, DCLRE1C, LIG4, LIG1, CHEK2

Publications for Nijmegen Breakage Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Nijmegen Breakage Syndrome:

(show top 50)    (show all 179)
idTitleAuthorsYear
1
An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma. (24428841)
2014
2
Mutation Inactivation of Nijmegen Breakage Syndrome Gene (NBS1) in Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma. (24349281)
2013
3
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. (22851427)
2012
4
Astrocyte dysfunction associated with cerebellar attrition in a Nijmegen breakage syndrome animal model. (21279473)
2011
5
Telomerase upregulation is a postcrisis event during senescence bypass and immortalization of two Nijmegen breakage syndrome T cell cultures. (20089118)
2010
6
Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. (20167538)
2010
7
Nijmegen breakage syndrome protein (NBN) causes resistance to methylating anticancer drugs such as temozolomide. (20729302)
2010
8
Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. (19151620)
2009
9
Speech impairment in Nijmegen breakage syndrome: a rare anomaly. (19195720)
2009
10
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. (19635536)
2009
11
DNA double-strand break and chromosomal rejoining defects with misrejoining in Nijmegen breakage syndrome cells. (17919995)
2008
12
Impaired removal of DNA interstrand cross-link in Nijmegen breakage syndrome and Fanconi anemia, but not in BRCA-defective group. (18771529)
2008
13
Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. (18788073)
2008
14
Evidence that the Nijmegen breakage syndrome protein, an early sensor of double-strand DNA breaks (DSB), is involved in HIV-1 post-integration repair by recruiting the ataxia telangiectasia-mutated kinase in a process similar to, but distinct from, cellular DSB repair. (18211700)
2008
15
NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal proliferation and differentiation. (17442057)
2007
16
SIRT1 regulates the function of the Nijmegen breakage syndrome protein. (17612497)
2007
17
Impaired DNA double strand break repair in cells from Nijmegen breakage syndrome patients. (16309973)
2006
18
No evidence of significant silencing of Fanconi genes FANCF and FANCB or Nijmegen breakage syndrome gene NBS1 by DNA hyper-methylation in sporadic childhood leukaemia. (16803569)
2006
19
Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. (16809669)
2006
20
Nijmegen breakage syndrome in Slovakia]. (15446459)
2004
21
Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome. (15586667)
2004
22
The Nijmegen breakage syndrome gene and its role in genome stability. (15258809)
2004
23
T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome. (15339696)
2004
24
Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes. (14738145)
2003
25
Correspondence re: R. Varon et al., Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia. Cancer Res., 61: 3570-3572, 2001. (14559852)
2003
26
Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome. (12764742)
2003
27
Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome. (12160977)
2002
28
Differing responses of Nijmegen breakage syndrome and ataxia telangiectasia cells to ionizing radiation. (12175309)
2002
29
Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. (11953735)
2002
30
657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. (12123493)
2002
31
Abstracts of the International Workshop on Nijmegen Breakage Syndrome. Prague, Czech Republic, 25-28 April 2002. (12120594)
2002
32
Nijmegen breakage syndrome gene (NBS1) alterations and its protein (nibrin) expression in human ovarian tumours. (12485469)
2002
33
Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre. (12390322)
2002
34
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. (11279524)
2001
35
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome. (11435685)
2001
36
Juvenile rheumatoid arthritis-like polyarthritis in Nijmegen breakage syndrome. (11708432)
2001
37
Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways. (11427422)
2001
38
Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. (11448772)
2001
39
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain. (11134242)
2001
40
Cranial MRI in the Nijmegen breakage syndrome. (10663471)
2000
41
Nijmegen breakage syndrome disease protein and MRE11 at PML nuclear bodies and meiotic telomeres. (10811102)
2000
42
Interactions of the Nijmegen breakage syndrome protein with ATM and BRCA1. (12760071)
2000
43
ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. (10839545)
2000
44
Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts. (10377945)
1999
45
Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1. (9933573)
1999
46
Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. (10398434)
1999
47
Identification, characterization, and mapping of a mouse homolog of the gene mutated in Nijmegen breakage syndrome. (10640816)
1999
48
Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. (9442910)
1997
49
Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage syndrome by the assay of radioresistant DNA synthesis. (7836844)
1994
50
Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome. (6828038)
1983

Genetic Variations for Nijmegen Breakage Syndrome

About this section

Expression for genes affiliated with Nijmegen Breakage Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Nijmegen Breakage Syndrome

Search GEO for disease gene expression data for Nijmegen Breakage Syndrome.

Pathways for genes affiliated with Nijmegen Breakage Syndrome

About this section
Sources:
53Reactome, 29KEGG, 51QIAGEN, 12EMD Millipore, 37NCBI BioSystems Database, 55SinoBiological, 4Cell Signaling Technology
See all sources

Pathways related to Nijmegen Breakage Syndrome according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3LIG4, LIG1
2
Hide members
10.3CHEK2, ATM
310.3ATM, BRCA1
4
Hide members
10.3CHEK2, RPA1
510.2TERF2, RAD50, MRE11A
610.2BRCA1, ATM, CHEK2
7
Hide members
10.2RPA1, LIG1, H2AFX
810.2ATM, E2F1, BRCA1
910.1H2AFX, ATM, E2F1
10
Hide members
10.1E2F1, ATM, CHEK2, SMC1A
11
Hide members
10.1CHEK2, ATM, E2F1, BRCA1
1210.0LIG1, WRN, E2F1, BRCA1
1310.0BRCA1, FANCB, FANCD2, BLM
14
Hide members
10.0RPA1, MRE11A, ATM, BLM, RAD50, NBN
15
Hide members
9.9NBN, RAD50, H2AFX, ATM, MRE11A, BRCA1
169.9RPA1, BRCA1, FANCB, FANCD2, BLM
17
Hide members
9.9BRCA1, MRE11A, FANCB, FANCD2, ATM, RAD50
18
Hide members
9.9RPA1, ATM, LIG1, CHEK2, NQO1, H2AFX
19
Hide members
9.9WRN, MRE11A, BRCA1, DCLRE1C, LIG4, NBN
209.8BRCA1, FANCD2, ATM, CHEK2, BLM, NBN
219.8BRCA1, MRE11A, FANCD2, ATM, CHEK2, H2AFX
22
Hide members
9.8BRCA1, MRE11A, E2F1, ATM, CHEK2, BLM
239.8BRCA1, MRE11A, E2F1, ATM, CHEK2, BLM
24
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
9.7NBN, RAD50, H2AFX, CHEK2, ATM, FANCD2
259.7MRE11A, E2F1, WRN, ATM, BLM, RAD50
269.7RAD50, BLM, CHEK2, ATM, FANCD2, E2F1
27
Hide members
9.7RPA1, BRCA1, MRE11A, NBN, RAD50, H2AFX
28
Hide members
9.6BRCA1, MRE11A, E2F1, FANCD2, ATM, LIG4
299.6BRCA1, MRE11A, E2F1, WRN, ATM, LIG1
30
Hide members
9.5RPA1, BRCA1, E2F1, ATM, LIG1, CHEK2
31
Hide members
9.5E2F1, MRE11A, BRCA1, FANCD2, SMC1A, NBN
32
Hide members
9.4NBN, RAD50, H2AFX, LIG1, LIG4, ATM
33
Hide members
9.4BRCA1, RPA1, MRE11A, ATM, LIG1, SMC1A
34
Hide members
9.2SMC1A, BRCA1, RPA1, MRE11A, E2F1, NBN

Compounds for genes affiliated with Nijmegen Breakage Syndrome

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 49PharmGKB, 28IUPHAR, 2BitterDB, 24HMDB
See all sources

Compounds related to Nijmegen Breakage Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1neocarzinostatin4410.6CHEK2, ATM
2mononucleotide4410.6MRE11A, RAD50, NBN
3polynucleotide4410.5LIG1, LIG4, WRN
4l1895910.5LIG4, LIG1
5tin(2+)4410.5MRE11A, RAD50, TERF2, NBN
6bpde4410.5RPA1, BRCA1, ATM, CHEK2
7topotecan44 1111.4BRCA1, ATM, H2AFX
8mitoxantrone44 49 1112.4H2AFX, NQO1, ATM
9diepoxybutane4410.4FANCD2, BRCA1
10benzo(a)pyrene4410.3BRCA1, E2F1, NQO1, H2AFX
11rpa 24410.3RPA1, FANCD2
12thymidylate4410.3NQO1, E2F1, BRCA1, RPA1
13caffeine44 49 28 2 11 2415.3BRCA1, ATM, LIG1, CHEK2, H2AFX
14adriamycin4410.3BRCA1, E2F1, CHEK2, NQO1
15n acetylcysteine4410.3ATM, CHEK2, NQO1, H2AFX, NBN
16nacl4410.3H2AFX, LIG4, ATM, RPA1
17aphidicolin4410.3BRCA1, FANCD2, ATM, LIG1, CHEK2, H2AFX
18gemcitabine44 49 1112.3BRCA1, E2F1, CHEK2, NQO1, H2AFX
19methylmethanesulfonate4410.2RPA1, BRCA1, WRN, BLM, H2AFX, RAD50
20mitomycin c4410.2BRCA1, MRE11A, FANCD2, ATM, NQO1, H2AFX
21bleomycin44 1111.2BRCA1, WRN, ATM, DCLRE1C, LIG1, NQO1
22adpribose4410.2TERF2, LIG1, BRCA1
23wortmannin4410.1H2AFX, CHEK2, LIG4, ATM
24oligonucleotide4410.1RPA1, BRCA1, E2F1, LIG1, CHEK2, TERF2
25phosphatidylinositol4410.0BRCA1, E2F1, ATM, LIG4, CHEK2, H2AFX
26doxorubicin44 49 1112.0BRCA1, E2F1, ATM, CHEK2, NQO1, H2AFX
27alanine4410.0BRCA1, E2F1, LIG4, LIG1, CHEK2, NQO1
28rapamycin4410.0E2F1, ATM, CHEK2, NBN
29etoposide44 49 59 1113.0RPA1, BRCA1, E2F1, ATM, DCLRE1C, LIG1
30atp44 2810.9RPA1, BRCA1, E2F1, WRN, ATM, LIG1
31oxygen44 2410.9BRCA1, E2F1, ATM, LIG1, CHEK2, NQO1
32serine449.9BRCA1, E2F1, ATM, CHEK2, NQO1, H2AFX
33hydroxyurea44 49 1111.9RPA1, NBN, RAD50, H2AFX, BLM, CHEK2
34cytarabine44 49 1111.9NQO1, LIG1, ATM
35cisplatin44 49 59 1112.8RPA1, BRCA1, E2F1, FANCD2, WRN, ATM
36camptothecin44 59 1111.7RPA1, BRCA1, NBN, RAD50, H2AFX, NQO1

GO Terms for genes affiliated with Nijmegen Breakage Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Nijmegen Breakage Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1site of double-strand breakGO:03586110.5NBN, RAD50, MRE11A
2replication forkGO:00565710.4BLM, H2AFX, NBN
3Mre11 complexGO:03087010.4MRE11A, RAD50, TERF2, NBN
4lateral elementGO:00080010.3BLM, RPA1
5male germ cell nucleusGO:00167310.3RPA1, BLM, H2AFX
6condensed chromosomeGO:00079310.3LIG4, FANCD2
7PML bodyGO:01660510.2NBN, BLM, CHEK2, RPA1
8pronucleusGO:04512010.2RAD50, BLM
9chromosomeGO:00569410.2BRCA1, LIG1, SMC1A
10chromosome, telomeric regionGO:00078110.1MRE11A, ATM, CHEK2, BLM, H2AFX, TERF2
11nuclear chromosome, telomeric regionGO:00078410.0NBN, RAD50
12nucleolusGO:0057309.8RPA1, MRE11A, WRN, LIG4, BLM, TERF2
13nucleusGO:0056349.3RPA1, BRCA1, MRE11A, E2F1, WRN, DCLRE1C
14nucleoplasmGO:0056549.2SMC1A, RPA1, BRCA1, MRE11A, E2F1, FANCB

Biological processes related to Nijmegen Breakage Syndrome according to GeneCards/GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic recombinationGO:00001910.6RAD50, MRE11A
2positive regulation of kinase activityGO:03367410.6MRE11A, RAD50, NBN
3positive regulation of protein autophosphorylationGO:03195410.6MRE11A, RAD50, NBN
4lagging strand elongationGO:00627310.6LIG1, LIG4
5isotype switchingGO:04519010.6LIG4, AICDA, NBN
6negative regulation of DNA endoreduplicationGO:03287610.6SMC1A, MRE11A
7DNA ligation involved in DNA repairGO:05110310.6LIG4, LIG1
8double-strand break repair via nonhomologous end joiningGO:00630310.6MRE11A, LIG4, LIG1
9DNA damage induced protein phosphorylationGO:00697510.6ATM, CHEK2
10telomere maintenance via telomeraseGO:00700410.6MRE11A, RAD50, TERF2
11V(D)J recombinationGO:03315110.5LIG4, LIG1
12reciprocal meiotic recombinationGO:00713110.5MRE11A, ATM, RAD50
13nucleotide-excision repair, DNA gap fillingGO:00629710.5LIG1, LIG4, RPA1
14DNA duplex unwindingGO:03250810.5MRE11A, WRN, RAD50, NBN
15response to gamma radiationGO:01033210.5CHEK2, LIG4, FANCD2
16G2 DNA damage checkpointGO:03157210.5BRCA1, ATM, BLM
17replication fork processingGO:03129710.5WRN, BLM
18signal transduction in response to DNA damageGO:04277010.5CHEK2, SMC1A
19meiosisGO:00712610.5RPA1, H2AFX, NBN, SMC1A
20intrinsic apoptotic signaling pathway in response to DNA damageGO:00863010.4BRCA1, E2F1, ATM, CHEK2
21synapsisGO:00712910.4MRE11A, FANCD2
22response to ionizing radiationGO:01021210.4H2AFX, DCLRE1C, ATM, BRCA1
23G2 phase of mitotic cell cycleGO:00008510.4BLM, E2F1
24DNA damage checkpointGO:00007710.4NBN, H2AFX, CHEK2, E2F1
25replicative senescenceGO:09039910.4CHEK2, ATM
26cellular response to gamma radiationGO:07148010.4WRN, ATM
27sister chromatid cohesionGO:00706210.3SMC1A, MRE11A
28response to X-rayGO:01016510.3BLM, LIG4
29DNA recombinationGO:00631010.2RPA1, MRE11A, WRN, DCLRE1C, BLM, RAD50
30telomere maintenanceGO:00072310.1RPA1, WRN, DCLRE1C, LIG1, BLM, RAD50
31response to DNA damage stimulusGO:00697410.1BRCA1, MRE11A, WRN, ATM, CHEK2, BLM
32double-strand break repair via homologous recombinationGO:00072410.0LIG1, BLM, H2AFX, RAD50, NBN, ATM
33cell divisionGO:05130110.0LIG4, LIG1, CHEK2, SMC1A
34cell proliferationGO:0082839.8NBN, LIG4, E2F1, MRE11A
35double-strand break repairGO:0063029.8RPA1, BRCA1, MRE11A, WRN, ATM, DCLRE1C
36DNA repairGO:0062819.6FANCD2, ATM, LIG4, LIG1, BLM, H2AFX

Molecular functions related to Nijmegen Breakage Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA endodeoxyribonuclease activityGO:00001410.5MRE11A, RAD50
23-5 exonuclease activityGO:00840810.4RAD50, WRN, MRE11A
3four-way junction helicase activityGO:00937810.4BLM, WRN
4G-quadruplex DNA bindingGO:05188010.4WRN, BLM
5DNA ligase (ATP) activityGO:00391010.4LIG4, LIG1
6DNA ligase activityGO:00390910.3LIG4, LIG1
7ATP-dependent DNA helicase activityGO:00400310.3NBN, RAD50, BLM, WRN, MRE11A
8bubble DNA bindingGO:00040510.3BLM, WRN
9ATP-dependent 3-5 DNA helicase activityGO:04314010.0BLM, WRN
10DNA bindingGO:0036779.8BRCA1, MRE11A, E2F1, WRN, ATM, LIG4
11ATP bindingGO:0055249.7WRN, ATM, LIG4, LIG1, CHEK2, BLM
12protein bindingGO:0055158.9ATM, WRN, FANCD2, FANCB, E2F1, MRE11A

Products for genes affiliated with Nijmegen Breakage Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nijmegen Breakage Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet