NBS
MCID: NJM001
MIFTS: 69

Nijmegen Breakage Syndrome (NBS) malady

Fetal, Blood, Cancer, Immune categories

Summaries for Nijmegen Breakage Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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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 nijmegen breakage syndrome-like disorder, and has symptoms including short neck, autosomal recessive inheritance and intellectual deficit/mental/psychomotor retardation/learning disability. 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 brain, smooth muscle and breast, and related mouse phenotypes are embryogenesis and reproductive system.

Wikipedia:64 Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome and Seemanova syndrome, is a... more...

Description from OMIM:47 251260

GeneReviews summary for nijmegen

Aliases & Classifications for Nijmegen Breakage Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
nijmegen breakage syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

nijmegen breakage syndrome 8 9 19 43 20 21 47 10 45 49 61
berlin breakage syndrome 8 19 43 21 49
immunodeficiency, microcephaly with normal intelligence 43 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 43
nonsyndromal microcephaly autosomal recessive with normal intelligence 43
immunodeficiency - microcephaly - chromosomal instability 49
microcephaly - immunodeficiency - lymphoreticuloma 49
microcephaly immunodeficiency lymphoreticuloma 43
ataxia-telangiectasia variant v1 43
ataxia-telangiectasia, variant 1 49
ataxia-telangiectasia variant 6 61
seemanova syndrome type 2 49
at v1 49
nbs 49


External Ids:

Disease Ontology8 DOID:7400
OMIM47 251260
MeSH35 D049932
NCIt40 C4692
SNOMED-CT57 234638009
MESH via Orphanet36 D049932, C531759
SNOMED-CT via Orphanet58 234638009
UMLS via Orphanet62 C0398791, C2930831

Related Diseases for Nijmegen Breakage Syndrome

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 74)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia telangiectasia31.2MRE11A, CHEK2, E2F1, FANCD2, WRN, ATM
2nijmegen breakage syndrome-like disorder30.8RAD50
3microcephaly30.8ATM, LIG4, RAD50, NBN, MRE11A
4acute leukemia30.8E2F1, ATM, NQO1, TERF2
5adenocarcinoma30.7E2F1, NQO1, H2AFX, MRE11A, BRCA1, CHEK2
6acute lymphoblastic leukemia, childhood30.7NBN, ATM, NQO1
7fanconi's anemia30.7FANCB, FANCD2
8aplastic anemia30.3BRCA1
9n syndrome11.4
10ataxia10.9
11char syndrome10.6
12fanconi syndrome10.6
13micro syndrome10.6
14ataxia telangiectasia variant v110.5
15bod syndrome10.4
16ataxia-telangiectasia variant10.4
17vitiligo10.3
18acute myeloid leukemia10.2
19juvenile rheumatoid arthritis10.2
20adult syndrome10.2
21adult lymphoma10.2
22porokeratosis10.2
23arthritis10.2
24thrombophlebitis10.2
25tuberculosis10.2
263-m syndrome10.2
27nonsyndromic hearing loss and deafness, dfna310.2
28young syndrome10.2
29b cell prolymphocytic leukemia10.2
30familial prostate cancer10.2
31schizencephaly10.2
32german syndrome10.2
33lymphoblastic lymphoma10.2
343-m syndrome 210.2
35leukemia, acute lymphoblastic 210.2
36null syndrome10.2
37mycosis fungoides10.1
38pancreatitis10.0NQO1
39lynch syndrome10.0BRCA1
40multiple sclerosis10.0RPA1
41myeloid leukemia10.0E2F1, NQO1
42early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.0NBN, MRE11A
43seckel syndrome10.0ATM, LIG4
44deficiency anemia10.0FANCB, BRCA1, FANCD2
45sarcoma10.0CHEK2, E2F1, WRN
46li-fraumeni syndrome10.0CHEK2, BRCA1, ATM
47myelodysplastic syndromes10.0CHEK2, NQO1, E2F1
48bilateral breast cancer10.0BRCA1, ATM, CHEK2
49pancreatic cancer10.0NQO1, LIG1, ATM, E2F1, BRCA1
50xeroderma pigmentosum10.0BRCA1, LIG4, LIG1, NQO1, RPA1

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



Diseases related to nijmegen breakage syndrome

Clinical Features for Nijmegen Breakage Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

251260

Clinical synopsis from OMIM:

251260

Symptoms:

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

Drugs & Therapeutics for Nijmegen Breakage Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

33
Brain, Smooth muscle, Breast, Prostate, Myeloid, Nk cells, T cells, B lymphoblasts, B cells

Animal Models for Nijmegen Breakage Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Nijmegen Breakage Syndrome

Sources:
51PubMed
See all sources

Articles related to Nijmegen Breakage Syndrome:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
Mutation Inactivation of Nijmegen Breakage Syndrome Gene (NBS1) in Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma. (24349281)
2013
2
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. (22293976)
2012
3
Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis. (20924312)
2011
4
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. (21227757)
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
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). (18937313)
2009
8
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. (19635536)
2009
9
Statins use a novel Nijmegen breakage syndrome-1-dependent pathway to accelerate DNA repair in vascular smooth muscle cells. (18723444)
2008
10
Impaired removal of DNA interstrand cross-link in Nijmegen breakage syndrome and Fanconi anemia, but not in BRCA-defective group. (18771529)
2008
11
Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients. (17977616)
2008
12
Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. (18788073)
2008
13
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
14
Positive diepoxybutane test in a patient with Nijmegen breakage syndrome. (16862537)
2007
15
SIRT1 regulates the function of the Nijmegen breakage syndrome protein. (17612497)
2007
16
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. (16840438)
2007
17
Impaired DNA double strand break repair in cells from Nijmegen breakage syndrome patients. (16309973)
2006
18
Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome. (16765653)
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 clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. (15451479)
2004
23
T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome. (15339696)
2004
24
Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly. (15033202)
2004
25
Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes. (14738145)
2003
26
Nijmegen breakage syndrome: a neuropathological study. (12973659)
2003
27
Assembly of functional ALT-associated promyelocytic leukemia bodies requires Nijmegen Breakage Syndrome 1. (12750284)
2003
28
Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome. (12160977)
2002
29
657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. (12123493)
2002
30
Nijmegen breakage syndrome gene (NBS1) alterations and its protein (nibrin) expression in human ovarian tumours. (12485469)
2002
31
Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre. (12390322)
2002
32
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. (11279524)
2001
33
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
34
Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways. (11427422)
2001
35
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain. (11134242)
2001
36
Nijmegen breakage syndrome disease protein and MRE11 at PML nuclear bodies and meiotic telomeres. (10811102)
2000
37
Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1. (10838806)
2000
38
Interactions of the Nijmegen breakage syndrome protein with ATM and BRCA1. (12760071)
2000
39
ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. (10839545)
2000
40
Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1. (9933573)
1999
41
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
42
Identification, characterization, and mapping of a mouse homolog of the gene mutated in Nijmegen breakage syndrome. (10640816)
1999
43
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. (9132489)
1997
44
Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. (9442910)
1997
45
Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome? (8825936)
1995
46
Postmortem findings in the Nijmegen breakage syndrome. (7808977)
1994
47
Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage syndrome by the assay of radioresistant DNA synthesis. (7836844)
1994
48
First-trimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis. (2274491)
1990
49
Further delineation of the Nijmegen breakage syndrome. (2786340)
1989
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

Expression for genes affiliated with Nijmegen Breakage Syndrome

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

Sources:
54Reactome, 30KEGG, 52QIAGEN, 12EMD Millipore, 38NCBI BioSystems Database, 56SinoBiological, 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
310.3BRCA1, ATM
4
Hide members
10.3CHEK2, RPA1
510.2TERF2, MRE11A, RAD50
610.2BRCA1, CHEK2, ATM
7
Hide members
10.2RPA1, H2AFX, LIG1
810.2BRCA1, ATM, E2F1
910.1E2F1, ATM, H2AFX
10
Hide members
10.1ATM, CHEK2, SMC1A, E2F1
11
Hide members
10.1ATM, E2F1, BRCA1, CHEK2
1210.0LIG1, WRN, E2F1, BRCA1
1310.0BRCA1, FANCD2, FANCB, BLM
14
Hide members
10.0RPA1, ATM, MRE11A, BLM, RAD50, NBN
15
Hide members
9.9RAD50, NBN, H2AFX, ATM, BRCA1, MRE11A
169.9FANCB, FANCD2, BLM, BRCA1, RPA1
17
Hide members
9.9ATM, FANCD2, RAD50, FANCB, MRE11A, BRCA1
18
Hide members
9.9NQO1, LIG1, ATM, RPA1, CHEK2, H2AFX
19
Hide members
9.9RAD50, NBN, BRCA1, MRE11A, WRN, DCLRE1C
209.8CHEK2, BLM, NBN, FANCD2, SMC1A, ATM
219.8RAD50, H2AFX, CHEK2, MRE11A, BRCA1, FANCD2
22
Hide members
9.8MRE11A, CHEK2, E2F1, ATM, BLM, RAD50
239.8BLM, CHEK2, BRCA1, MRE11A, RAD50, ATM
24
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
9.7BRCA1, MRE11A, FANCD2, ATM, CHEK2, H2AFX
259.7TERF2, WRN, NBN, MRE11A, E2F1, ATM
269.7BRCA1, MRE11A, E2F1, FANCD2, ATM, BLM
27
Hide members
9.7MRE11A, ATM, LIG4, LIG1, H2AFX, RAD50
28
Hide members
9.6FANCD2, RAD50, BRCA1, MRE11A, LIG4, LIG1
299.6CHEK2, E2F1, ATM, BLM, MRE11A, BRCA1
30
Hide members
9.5LIG1, ATM, RPA1, H2AFX, CHEK2, TERF2
31
Hide members
9.5CHEK2, ATM, FANCD2, E2F1, MRE11A, BRCA1
32
Hide members
9.4NBN, RPA1, BRCA1, RAD50, H2AFX, LIG1
33
Hide members
9.4RPA1, BRCA1, MRE11A, ATM, LIG1, BLM
34
Hide members
9.2TERF2, RAD50, H2AFX, BLM, CHEK2, ATM

Compounds for genes affiliated with Nijmegen Breakage Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 50PharmGKB, 29IUPHAR, 2BitterDB, 24HMDB
See all sources

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

(show all 36)
idCompoundScoreTop Affiliating Genes
1neocarzinostatin4510.6CHEK2, ATM
2mononucleotide4510.6MRE11A, RAD50, NBN
3polynucleotide4510.5LIG1, LIG4, WRN
4l1896010.5LIG4, LIG1
5tin(2+)4510.5MRE11A, RAD50, TERF2, NBN
6bpde4510.5RPA1, BRCA1, ATM, CHEK2
7topotecan45 1111.4BRCA1, ATM, H2AFX
8mitoxantrone45 50 1112.4H2AFX, NQO1, ATM
9diepoxybutane4510.4FANCD2, BRCA1
10benzo(a)pyrene4510.3BRCA1, E2F1, NQO1, H2AFX
11rpa 24510.3RPA1, FANCD2
12thymidylate4510.3NQO1, E2F1, BRCA1, RPA1
13caffeine45 50 29 2 11 2415.3BRCA1, ATM, LIG1, CHEK2, H2AFX
14adriamycin4510.3BRCA1, E2F1, CHEK2, NQO1
15n acetylcysteine4510.3ATM, CHEK2, NQO1, H2AFX, NBN
16nacl4510.3H2AFX, LIG4, ATM, RPA1
17aphidicolin4510.3BRCA1, FANCD2, ATM, LIG1, CHEK2, H2AFX
18gemcitabine45 50 1112.3BRCA1, E2F1, CHEK2, NQO1, H2AFX
19methylmethanesulfonate4510.2RPA1, BRCA1, WRN, BLM, H2AFX, RAD50
20mitomycin c4510.2BRCA1, MRE11A, FANCD2, ATM, NQO1, H2AFX
21bleomycin45 1111.2BRCA1, WRN, ATM, DCLRE1C, LIG1, NQO1
22adpribose4510.2TERF2, LIG1, BRCA1
23wortmannin4510.1H2AFX, CHEK2, LIG4, ATM
24oligonucleotide4510.1RPA1, BRCA1, E2F1, LIG1, CHEK2, TERF2
25phosphatidylinositol4510.0BRCA1, E2F1, ATM, LIG4, CHEK2, H2AFX
26doxorubicin45 50 1112.0BRCA1, E2F1, ATM, CHEK2, NQO1, H2AFX
27alanine4510.0BRCA1, E2F1, LIG4, LIG1, CHEK2, NQO1
28rapamycin4510.0E2F1, ATM, CHEK2, NBN
29etoposide45 50 60 1113.0RPA1, BRCA1, E2F1, ATM, DCLRE1C, LIG1
30atp45 2910.9RPA1, BRCA1, E2F1, WRN, ATM, LIG1
31oxygen45 2410.9BRCA1, E2F1, ATM, LIG1, CHEK2, NQO1
32serine459.9BRCA1, E2F1, ATM, CHEK2, NQO1, H2AFX
33hydroxyurea45 50 1111.9RPA1, NBN, RAD50, H2AFX, BLM, CHEK2
34cytarabine45 50 1111.9NQO1, LIG1, ATM
35cisplatin45 50 60 1112.8RPA1, BRCA1, E2F1, FANCD2, WRN, ATM
36camptothecin45 60 1111.7RPA1, BRCA1, NBN, RAD50, H2AFX, NQO1

GO Terms for genes affiliated with Nijmegen Breakage Syndrome

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

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, NBN, RAD50
3positive regulation of protein autophosphorylationGO:03195410.6RAD50, MRE11A, NBN
4lagging strand elongationGO:00627310.6LIG4, LIG1
5isotype switchingGO:04519010.6AICDA, NBN, LIG4
6negative regulation of DNA endoreduplicationGO:03287610.6SMC1A, MRE11A
7double-strand break repair via nonhomologous end joiningGO:00630310.6MRE11A, LIG1, LIG4
8DNA damage induced protein phosphorylationGO:00697510.6ATM, CHEK2
9DNA ligation involved in DNA repairGO:05110310.6LIG1, LIG4
10telomere maintenance via telomeraseGO:00700410.6RAD50, MRE11A, TERF2
11V(D)J recombinationGO:03315110.5LIG4, LIG1
12reciprocal meiotic recombinationGO:00713110.5MRE11A, RAD50, ATM
13nucleotide-excision repair, DNA gap fillingGO:00629710.5RPA1, LIG1, LIG4
14DNA duplex unwindingGO:03250810.5WRN, RAD50, NBN, MRE11A
15response to gamma radiationGO:01033210.5CHEK2, FANCD2, LIG4
16G2 DNA damage checkpointGO:03157210.5ATM, BRCA1, BLM
17replication fork processingGO:03129710.5WRN, BLM
18synapsisGO:00712910.5FANCD2, MRE11A
19meiosisGO:00712610.5RPA1, NBN, SMC1A, H2AFX
20intrinsic apoptotic signaling pathway in response to DNA damageGO:00863010.4BRCA1, E2F1, ATM, CHEK2
21signal transduction in response to DNA damageGO:04277010.4CHEK2, SMC1A
22response to ionizing radiationGO:01021210.4DCLRE1C, H2AFX, ATM, BRCA1
23G2 phase of mitotic cell cycleGO:00008510.4BLM, E2F1
24DNA damage checkpointGO:00007710.4H2AFX, CHEK2, NBN, E2F1
25replicative senescenceGO:09039910.4CHEK2, ATM
26cellular response to gamma radiationGO:07148010.4WRN, ATM
27sister chromatid cohesionGO:00706210.3MRE11A, SMC1A
28response to X-rayGO:01016510.3BLM, LIG4
29DNA recombinationGO:00631010.2BLM, RAD50, SMC1A, DCLRE1C, WRN, RPA1
30telomere maintenanceGO:00072310.1TERF2, RAD50, BLM, NBN, WRN, LIG1
31response to DNA damage stimulusGO:00697410.1BRCA1, MRE11A, WRN, ATM, H2AFX, CHEK2
32double-strand break repair via homologous recombinationGO:00072410.0RPA1, NBN, RAD50, BRCA1, MRE11A, ATM
33cell divisionGO:05130110.0LIG4, LIG1, CHEK2, SMC1A
34cell proliferationGO:0082839.8MRE11A, NBN, LIG4, E2F1
35double-strand break repairGO:0063029.8RPA1, DCLRE1C, BRCA1, MRE11A, WRN, ATM
36DNA repairGO:0062819.6BRCA1, MRE11A, FANCB, FANCD2, LIG4, LIG1

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nijmegen Breakage Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet