NBS
MCID: NJM001
MIFTS: 74

Nijmegen Breakage Syndrome (NBS) malady

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

Summaries for Nijmegen Breakage Syndrome

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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 leukemia, 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 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, skin and lung, 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

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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

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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 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

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

251260

Clinical synopsis from OMIM:

251260

Symptoms:

48 (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:
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

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

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

Animal Models for Nijmegen Breakage Syndrome or affiliated genes

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36MGI
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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

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Sources:
50PubMed
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Articles related to Nijmegen Breakage Syndrome:

(show top 50)    (show all 179)
idTitleAuthorsYear
1
Nijmegen breakage syndrome and chronic polyarthritis. (24044622)
2013
2
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. (22293976)
2012
3
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress. (22396666)
2012
4
Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome. (22533239)
2012
5
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). (18937313)
2009
6
Inactivation of the Nijmegen breakage syndrome gene leads to excess centrosome duplication via the ATR/BRCA1 pathway. (19244116)
2009
7
Successful treatment of hodgkin lymphoma in nijmegen breakage syndrome. (19125088)
2009
8
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
9
Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome. (18347309)
2008
10
Structure of a second BRCT domain identified in the nijmegen breakage syndrome protein Nbs1 and its function in an MDC1-dependent localization of Nbs1 to DNA damage sites. (18582474)
2008
11
Nijmegen Breakage Syndrome mutations and risk of breast cancer. (17957789)
2008
12
Spontaneously immortalized T lymphocytes from Nijmegen Breakage Syndrome patients display phenotypes typical for lymphoma cells. (17900685)
2008
13
Nijmegen breakage syndrome. (17712992)
2007
14
Characterization of the plant homolog of Nijmegen breakage syndrome 1: Involvement in DNA repair and recombination. (17182003)
2007
15
Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome. (16765653)
2006
16
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. (16033915)
2006
17
Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer. (16702373)
2006
18
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. (16088910)
2005
19
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. (15333589)
2004
20
The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. (15451479)
2004
21
Analysis of ataxia-telangiectasia mutated (ATM)- and Nijmegen breakage syndrome (NBS)-regulated gene expression patterns. (14745549)
2004
22
Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile]. (15449558)
2004
23
Genetic heterogeneity for a Nijmegen breakage-like syndrome. (12702161)
2003
24
Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome. (14632755)
2003
25
Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome. (12621246)
2003
26
Distinct functions of Nijmegen breakage syndrome in ataxia telangiectasia mutated-dependent responses to DNA damage. (12861053)
2003
27
Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. (12483513)
2002
28
Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma. (12066197)
2002
29
A novel mutation and novel features in Nijmegen breakage syndrome. (11288710)
2001
30
Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1. (10838806)
2000
31
Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development. (10915761)
2000
32
Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. (10799436)
2000
33
Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation. (10792024)
2000
34
V(D)J rearrangement in Nijmegen breakage syndrome. (11451418)
2000
35
The Nijmegen breakage syndrome protein is essential for Mre11 phosphorylation upon DNA damage. (10391882)
1999
36
Expression of full-length NBS1 protein restores normal radiation responses in cells from Nijmegen breakage syndrome patients. (10600486)
1999
37
G2 repair in Nijmegen breakage syndrome: G2 duration and effect of caffeine and cycloheximide in control and X-ray irradiated lymphocytes. (9650762)
1998
38
DNA repair: the Nijmegen breakage syndrome protein. (9742394)
1998
39
Characterization of cell cycle checkpoint responses after ionizing radiation in Nijmegen breakage syndrome cells. (9622065)
1998
40
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. (9590180)
1998
41
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. (9590181)
1998
42
Positional cloning of the gene for Nijmegen breakage syndrome. (9620777)
1998
43
Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation. (9271379)
1997
44
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. (9042920)
1997
45
Cell cycle checkpoints and DNA repair in Nijmegen breakage syndrome. (9000041)
1997
46
The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11. (8644753)
1996
47
Nijmegen Breakage Syndrome (20301355)
1993
48
Variants of Nijmegen breakage syndrome and ataxia telangiectasia. (7513225)
1993
49
Unusual T cell clones in a patient with Nijmegen breakage syndrome. (1613764)
1992
50
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. (2491181)
1989

Genetic Variations for Nijmegen Breakage Syndrome

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Expression for genes affiliated with Nijmegen Breakage Syndrome

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Sources:
1BioGPS, 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:
53Reactome, 29KEGG, 51QIAGEN, 12EMD Millipore, 37NCBI BioSystems Database, 55SinoBiological, 4Cell Signaling Technology
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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

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 49PharmGKB, 28IUPHAR, 2BitterDB, 24HMDB
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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

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Sources:
16Gene Ontology
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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

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Sources for Nijmegen Breakage Syndrome

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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