NBS
MCID: NJM001
MIFTS: 69

Nijmegen Breakage Syndrome (NBS) malady

Genetic diseases, Rare diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases categories
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Summaries for Nijmegen Breakage Syndrome

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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Fully expand 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 nijmegen breakage syndrome-like disorder and ataxia telangiectasia, and has symptoms including philtrum deeply grooved, muscle anomalies and acute leukemia. An important gene associated with Nijmegen Breakage Syndrome is NBN (nibrin), and among its related pathways are DNA damage ATM ATR regulation of G1 S checkpoint and miRNA Regulation of DNA Damage Response. The compounds methylmethanesulfonate and hydroxyurea 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:65 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

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 22GTR, 58SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



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 62
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 62
seemanova syndrome type 2 49
seemanova syndrome 2 43
at v1 49
nbs 49


External Ids:

Disease Ontology8 DOID:7400
NCIt40 C4692
MeSH35 D049932
OMIM47 251260
SNOMED-CT58 234638009
MESH via Orphanet36 D049932, C531759
SNOMED-CT via Orphanet59 234638009
UMLS via Orphanet63 C0398791, C2930831

Related Diseases for Nijmegen Breakage Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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 61)
idRelated DiseaseScoreTop Affiliating Genes
1nijmegen breakage syndrome-like disorder31.1RAD50
2ataxia telangiectasia30.9NBN, RAD50, LIG4, DCLRE1C, MRE11A, AICDA
3leukemia30.9AICDA, LIG4, NBN, ATM
4microcephaly30.7LIG4, RAD50, MRE11A, NBN, ATM
5breast cancer30.7ATM, RAD50, LIG4, NBN, MRE11A
6hodgkin's lymphoma30.5AICDA, ATM
7b-cell lymphomas30.3AICDA, NBN, ATM
8non-hodgkin lymphoma30.3AICDA, NBN, ATM
9ataxia10.9
10lymphoblastic leukemia10.6
11ataxia telangiectasia variant v110.5
12medulloblastoma10.5
13adenocarcinoma10.5
14prostate adenocarcinoma10.5
15neuroblastoma10.5
16vitiligo10.3
17nephroblastoma10.3
18neuronitis10.3
19juvenile rheumatoid arthritis10.3
20acute myeloid leukemia10.3
21porokeratosis10.3
22aplastic anemia10.3
23arthritis10.3
24cholangiocarcinoma10.3
25hepatocellular carcinoma10.3
26intrahepatic cholangiocarcinoma10.3
27myeloid leukemia10.3
28prolymphocytic leukemia10.3
29prostate cancer10.3
30prostatitis10.3
31rhabdomyosarcoma10.3
32rheumatoid arthritis10.3
33thrombophlebitis10.3
34tuberculosis10.3
35nonsyndromic hearing loss and deafness, dfna310.3
36intrauterine growth retardation with increased mitomycin c sensitivity10.3
37schizencephaly10.3
38hiv-110.3
39ataxia-telangiectasia variant10.3
40t-cell prolymphocytic leukemia10.3
41mycosis fungoides10.1
42hemolytic anemia10.1
43early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.0NBN, MRE11A
44acute lymphoblastic leukemia, childhood10.0ATM, NBN
45seckel syndrome10.0ATM, LIG4
46cerebellar degeneration10.0ATM, MRE11A
47omenn syndrome10.0LIG4, DCLRE1C
48severe combined immunodeficiency10.0DCLRE1C, LIG4
49werner syndrome10.0MRE11A, ATM, NBN
50b-cell chronic lymphocytic leukemia10.0AICDA, ATM

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



Diseases related to nijmegen breakage syndrome

Symptoms for Nijmegen Breakage Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

251260

Clinical features from OMIM:

251260

Symptoms:

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

Drugs & Therapeutics for Nijmegen Breakage Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Nijmegen Breakage Syndrome

Search NIH Clinical Center for Nijmegen Breakage Syndrome

Genetic Tests for Nijmegen Breakage Syndrome

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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

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Sources:
33MalaCards
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MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

33
T cells, Lung, Skin, Breast, Brain, Testes, Prostate, Myeloid, B cells

Animal Models for Nijmegen Breakage Syndrome or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6ATM, NBN, RAD50, MRE11A
2MP:00053898.2RAD50, LIG4, NBN, ATM, MRE11A
3MP:00053868.0NBN, LIG4, ATM, MRE11A, RAD50
4MP:00036317.8MRE11A, ATM, LIG4, NBN, RAD50
5MP:00020067.5RAD50, AICDA, ATM, NBN, LIG4, MRE11A
6MP:00107687.3RAD50, NBN, ATM, AICDA, MRE11A, LIG4
7MP:00053976.9DCLRE1C, LIG4, RAD50, NBN, ATM, AICDA
8MP:00053876.9DCLRE1C, LIG4, RAD50, AICDA, MRE11A, NBN
9MP:00053846.9MRE11A, AICDA, ATM, NBN, DCLRE1C, RAD50

Publications for Nijmegen Breakage Syndrome

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Sources:
52PubMed
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Articles related to Nijmegen Breakage Syndrome:

(show top 50)    (show all 177)
idTitleAuthorsYear
1
Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. (23765759)
2013
2
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. (22293976)
2012
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
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. (21923652)
2011
6
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. (20947454)
2010
7
Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. (19151620)
2009
8
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). (18937313)
2009
9
DNA double-strand break and chromosomal rejoining defects with misrejoining in Nijmegen breakage syndrome cells. (17919995)
2008
10
The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients. (18328813)
2008
11
Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. (18593981)
2008
12
Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome. (18347309)
2008
13
Nijmegen breakage syndrome. (17712992)
2007
14
Differentiation of Nijmegen breakage syndrome from Fanconi anemia. (18050081)
2007
15
NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal proliferation and differentiation. (17442057)
2007
16
Impaired DNA double strand break repair in cells from Nijmegen breakage syndrome patients. (16309973)
2006
17
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. (16544999)
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
Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome. (16765653)
2006
20
Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay. (16470524)
2006
21
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. (16033915)
2006
22
Nijmegen breakage syndrome in Slovakia]. (15446459)
2004
23
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. (15333589)
2004
24
Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome. (15586667)
2004
25
The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. (15451479)
2004
26
Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. (15474156)
2004
27
Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex. (15493328)
2004
28
The Nijmegen breakage syndrome gene and its role in genome stability. (15258809)
2004
29
Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes. (14738145)
2003
30
Nijmegen breakage syndrome: a neuropathological study. (12973659)
2003
31
Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. (12483513)
2002
32
Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. (11839094)
2002
33
Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome. (12160977)
2002
34
Cranial MRI in the Nijmegen breakage syndrome. (10663471)
2000
35
Nijmegen breakage syndrome disease protein and MRE11 at PML nuclear bodies and meiotic telomeres. (10811102)
2000
36
Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1. (10838806)
2000
37
Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development. (10915761)
2000
38
Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. (10799436)
2000
39
Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: case report. (10742414)
2000
40
Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts. (10377945)
1999
41
Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1. (9933573)
1999
42
G2 repair in Nijmegen breakage syndrome: G2 duration and effect of caffeine and cycloheximide in control and X-ray irradiated lymphocytes. (9650762)
1998
43
Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines. (9020962)
1997
44
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. (9132489)
1997
45
Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. (9442910)
1997
46
The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11. (8644753)
1996
47
Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome? (8825936)
1995
48
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. (7545870)
1995
49
Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. (3248383)
1988
50
A new chromosomal instability disorder: the Nijmegen breakage syndrome. (7315300)
1981

Variations for Nijmegen Breakage Syndrome

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Nijmegen Breakage Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenic, risk factor/card/nijmegen_breakage_syndromeGRCh37Chr 8, 90983442: 90983446
2NBNNBN, 4-BP DEL, NT698deletionPathogenic/card/nijmegen_breakage_syndrome
3NBNNBN, 4-BP DEL, NT835deletionPathogenic/card/nijmegen_breakage_syndrome
4NBNNBN, 1-BP INSinsertionPathogenic/card/nijmegen_breakage_syndrome
5NBNNBN, 1-BP DEL, 1142CdeletionPathogenic/card/nijmegen_breakage_syndrome
6NBNNM_002485.4(NBN): c.976C> T (p.Gln326Ter)single nucleotide variantPathogenicrs121908973GRCh37Chr 8, 90976656: 90976656
7NBNNM_002485.4(NBN): c.1089C> A (p.Tyr363Ter)single nucleotide variantPathogenicrs121908974GRCh37Chr 8, 90970988: 90970988
8NBNNM_002485.4(NBN): c.643C> T (p.Arg215Trp)single nucleotide variantPathogenic, Uncertain significancers34767364GRCh37Chr 8, 90983460: 90983460
9NBNNBN, 2-BP INS, 742GGinsertionPathogenic

Expression for genes affiliated with Nijmegen Breakage Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG, 12EMD Millipore, 5Cell Signaling Technology
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Pathways related to Nijmegen Breakage Syndrome according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ATM, NBN
29.5MRE11A, NBN
3
Show member pathways
9.4RAD50, MRE11A
49.1AICDA, DCLRE1C
5
Show member pathways
9.1MRE11A, RAD50, NBN
6
Show member pathways
9.0MRE11A, ATM, RAD50
7
Show member pathways
ATM Signaling Pathway38
9.0RAD50, ATM, MRE11A
8
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.0ATM, MRE11A, RAD50
99.0MRE11A, ATM, RAD50
109.0MRE11A, RAD50, ATM
11
Show member pathways
8.6RAD50, MRE11A, ATM, NBN
128.6ATM, NBN, RAD50, MRE11A
138.6RAD50, NBN, ATM, MRE11A
14
Show member pathways
8.6NBN, RAD50, ATM, MRE11A
158.6NBN, RAD50, ATM, MRE11A
16
Show member pathways
Homologous recombination38
8.6MRE11A, ATM, NBN, RAD50
17
Show member pathways
8.6NBN, RAD50, ATM, MRE11A
18
Show member pathways
DNA damage response38
8.6MRE11A, ATM, NBN, RAD50
19
Show member pathways
8.6MRE11A, NBN, ATM, RAD50
20
Show member pathways
8.5ATM, LIG4, RAD50, MRE11A
21
Show member pathways
8.1LIG4, NBN, RAD50, ATM, MRE11A
22
Show member pathways
8.1MRE11A, RAD50, ATM, LIG4, NBN
23
Show member pathways
Non-homologous end joining38
DNA damage NHEJ mechanisms of DSBs repair60
8.0RAD50, LIG4, DCLRE1C, NBN, MRE11A

Compounds for genes affiliated with Nijmegen Breakage Syndrome

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Nijmegen Breakage Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1methylmethanesulfonate459.6NBN, RAD50
2hydroxyurea45 51 1111.3RAD50, NBN, ATM
3tin(2+)459.3RAD50, NBN, MRE11A
4mononucleotide459.2RAD50, NBN, MRE11A
5bleomycin45 1110.2DCLRE1C, ATM
6phosphatidylinositol459.1LIG4, NBN, ATM
7etoposide45 51 61 1112.1DCLRE1C, NBN, ATM
8mitomycin c459.1MRE11A, ATM, NBN
9camptothecin45 61 1110.8MRE11A, ATM, NBN, RAD50

GO Terms for genes affiliated with Nijmegen Breakage Syndrome

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Sources:
16Gene Ontology
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Cellular components related to Nijmegen Breakage Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosome, telomeric regionGO:0007849.7RAD50, NBN
2Mre11 complexGO:0308709.2RAD50, NBN, MRE11A
3site of double-strand breakGO:0358619.2MRE11A, RAD50, NBN
4chromosome, telomeric regionGO:0007819.1MRE11A, ATM
5nucleolusGO:0057308.5NBN, LIG4, RAD50, MRE11A
6nucleoplasmGO:0056548.2MRE11A, ATM, NBN, LIG4, RAD50
7nucleusGO:0056347.1MRE11A, AICDA, NBN, DCLRE1C, RAD50, LIG4

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic recombinationGO:0000199.7RAD50, MRE11A
2mitotic G2 DNA damage checkpointGO:0070959.7MRE11A, NBN
3cell cycle arrestGO:0070509.6ATM, NBN
4telomere maintenance via telomeraseGO:0070049.6MRE11A, RAD50
5neuron apoptotic processGO:0514029.6ATM, LIG4
6double-strand break repair via nonhomologous end joiningGO:0063039.4LIG4, MRE11A
7telomere maintenanceGO:0007239.4RAD50, DCLRE1C, NBN
8positive regulation of kinase activityGO:0336749.4MRE11A, NBN, RAD50
9response to ionizing radiationGO:0102129.4ATM, DCLRE1C
10positive regulation of protein autophosphorylationGO:0319549.4NBN, MRE11A, RAD50
11DNA duplex unwindingGO:0325089.3MRE11A, NBN, RAD50
12reciprocal meiotic recombinationGO:0071319.3RAD50, MRE11A, ATM
13DNA catabolic process, endonucleolyticGO:0007379.2RAD50, DCLRE1C, MRE11A
14nucleic acid phosphodiester bond hydrolysisGO:0903059.2RAD50, DCLRE1C, MRE11A
15DNA recombinationGO:0063109.1MRE11A, DCLRE1C, RAD50
16cellular response to DNA damage stimulusGO:0069749.1RAD50, ATM, MRE11A
17isotype switchingGO:0451909.1AICDA, NBN, LIG4
18cell proliferationGO:0082839.0LIG4, NBN, MRE11A
19double-strand break repair via homologous recombinationGO:0007249.0MRE11A, ATM, NBN, RAD50
20B cell differentiationGO:0301838.8AICDA, DCLRE1C
21DNA repairGO:0062818.4MRE11A, ATM, NBN, LIG4, RAD50
22double-strand break repairGO:0063027.9NBN, DCLRE1C, LIG4, RAD50, ATM, MRE11A

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
13-5 exonuclease activityGO:0084089.5MRE11A, RAD50
2protein N-terminus bindingGO:0474859.3NBN, ATM
3protein C-terminus bindingGO:0080229.3LIG4, MRE11A
4ATP-dependent DNA helicase activityGO:0040039.2MRE11A, RAD50, NBN
5single-stranded DNA endodeoxyribonuclease activityGO:0000149.1RAD50, DCLRE1C, MRE11A
6DNA bindingGO:0036778.4MRE11A, ATM, RAD50, LIG4
7protein bindingGO:0055157.3ATM, AICDA, MRE11A, NBN, LIG4, RAD50

Products for genes affiliated with Nijmegen Breakage Syndrome

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  • Antibodies
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Sources for Nijmegen Breakage Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet