NBS
MCID: NJM001
MIFTS: 70

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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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 based summary: Nijmegen Breakage Syndrome, also known as berlin breakage syndrome, is related to nijmegen breakage syndrome-like disorder and leukemia, and has symptoms including microcephaly, sloping forehead and low hair line-front. 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 breast, 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: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, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 22GTR, 34MeSH, 39NCIt, 57SNOMED-CT, 35MESH via Orphanet, 63UMLS via Orphanet
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Nijmegen Breakage Syndrome, Aliases & Descriptions:

Name: Nijmegen Breakage Syndrome 8 9 19 42 20 21 46 10 44 48 62
Berlin Breakage Syndrome 8 19 42 21 48
Ataxia-Telangiectasia Variant 1 19 21 62
Immunodeficiency, Microcephaly with Normal Intelligence 42 22
Microcephaly, Normal Intelligence and Immunodeficiency 8 21
Ataxia-Telangiectasia Variant V1 42 62
Seemanova Syndrome 2 42 62
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 1 48
Ataxia-Telangiectasia Variant 6 62
Seemanova Syndrome Type 2 48
at V1 48
Nbs 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:7400
MeSH34 D049932
OMIM46 251260
SNOMED-CT57 234638009
NCIt39 C4692
MESH via Orphanet35 C531759, D049932
UMLS via Orphanet63 C0398791, C2930831

Related Diseases for Nijmegen Breakage Syndrome

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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 65)
idRelated DiseaseScoreTop Affiliating Genes
1nijmegen breakage syndrome-like disorder31.6RAD50
2leukemia30.4AICDA, LIG4, NBN, ATM
3hodgkin's lymphoma30.3AICDA, ATM
4breast cancer30.3ATM, RAD50, LIG4, NBN, MRE11A
5microcephaly30.2LIG4, RAD50, MRE11A, NBN, ATM
6b-cell lymphomas30.2AICDA, NBN, ATM
7non-hodgkin lymphoma30.2AICDA, NBN, ATM
8ataxia telangiectasia29.8NBN, RAD50, LIG4, DCLRE1C, MRE11A, AICDA
9ataxia10.9
10ataxia telangiectasia variant v110.6
11lymphoblastic leukemia10.5
12medulloblastoma10.5
13adenocarcinoma10.5
14neuroblastoma10.5
15prostate adenocarcinoma10.5
16acute lymphoblastic leukemia10.4
17prostate cancer10.4
18prostatitis10.4
19vitiligo10.4
20nephroblastoma10.3
21acute monocytic leukemia10.3
22acute myeloid leukemia10.3
23aplastic anemia10.3
24arthritis10.3
25cholangiocarcinoma10.3
26hepatocellular carcinoma10.3
27hiv-110.3
28rheumatoid arthritis10.3
29juvenile rheumatoid arthritis10.3
30neuronitis10.3
31porokeratosis10.3
32intrahepatic cholangiocarcinoma10.3
33monocytic leukemia10.3
34myeloid leukemia10.3
35prolymphocytic leukemia10.3
36rhabdomyosarcoma10.3
37thrombophlebitis10.3
38tuberculosis10.3
39glioblastoma10.3
40intrauterine growth retardation with increased mitomycin c sensitivity10.3
41schizencephaly10.3
42ataxia-telangiectasia variant10.3
43t-cell prolymphocytic leukemia10.3
44early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.2NBN, MRE11A
45acute lymphoblastic leukemia, childhood10.1ATM, NBN
46hemolytic anemia10.1
47mycosis fungoides10.1
48seckel syndrome10.1ATM, LIG4
49cerebellar degeneration10.1ATM, MRE11A
50omenn syndrome10.1LIG4, DCLRE1C

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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Symptoms by clinical synopsis from OMIM:

251260

Clinical features from OMIM:

251260

Symptoms:

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

HPO human phenotypes related to Nijmegen Breakage Syndrome:

(show all 78)
id Description Frequency HPO Source Accession
1 sinusitis hallmark (90%) HP:0000246
2 microcephaly hallmark (90%) HP:0000252
3 low anterior hairline hallmark (90%) HP:0000294
4 sloping forehead hallmark (90%) HP:0000340
5 micrognathia hallmark (90%) HP:0000347
6 hearing abnormality hallmark (90%) HP:0000364
7 convex nasal ridge hallmark (90%) HP:0000444
8 short neck hallmark (90%) HP:0000470
9 upslanted palpebral fissure hallmark (90%) HP:0000582
10 thrombocytopenia hallmark (90%) HP:0001873
11 hemolytic anemia hallmark (90%) HP:0001878
12 deep philtrum hallmark (90%) HP:0002002
13 malabsorption hallmark (90%) HP:0002024
14 recurrent respiratory infections hallmark (90%) HP:0002205
15 abnormality of chromosome stability hallmark (90%) HP:0003220
16 short stature hallmark (90%) HP:0004322
17 decreased body weight hallmark (90%) HP:0004325
18 abnormal nasal morphology hallmark (90%) HP:0005105
19 depressed nasal bridge hallmark (90%) HP:0005280
20 attention deficit hyperactivity disorder hallmark (90%) HP:0007018
21 abnormal immunoglobulin level hallmark (90%) HP:0010701
22 abnormality of the upper urinary tract hallmark (90%) HP:0010935
23 abnormal hair quantity hallmark (90%) HP:0011362
24 cognitive impairment hallmark (90%) HP:0100543
25 urogenital fistula hallmark (90%) HP:0100589
26 aplasia/hypoplasia of the thymus typical (50%) HP:0010515
27 cleft palate occasional (7.5%) HP:0000175
28 cutaneous photosensitivity occasional (7.5%) HP:0000992
29 muscle weakness occasional (7.5%) HP:0001324
30 freckling occasional (7.5%) HP:0001480
31 respiratory insufficiency occasional (7.5%) HP:0002093
32 abnormality of neuronal migration occasional (7.5%) HP:0002269
33 acute leukemia occasional (7.5%) HP:0002488
34 lymphoma occasional (7.5%) HP:0002665
35 medulloblastoma occasional (7.5%) HP:0002885
36 amyotrophy occasional (7.5%) HP:0003202
37 glioma occasional (7.5%) HP:0009733
38 non-midline cleft lip occasional (7.5%) HP:0100335
39 autosomal recessive inheritance HP:0000007
40 recurrent urinary tract infections HP:0000010
41 hydronephrosis HP:0000126
42 cleft palate HP:0000175
43 cleft upper lip HP:0000204
44 sinusitis HP:0000246
45 microcephaly HP:0000252
46 mastoiditis HP:0000265
47 sloping forehead HP:0000340
48 micrognathia HP:0000347
49 otitis media HP:0000388
50 macrotia HP:0000400
51 choanal atresia HP:0000453
52 upslanted palpebral fissure HP:0000582
53 hyperactivity HP:0000752
54 cafe-au-lait spot HP:0000957
55 intellectual disability HP:0001249
56 intrauterine growth retardation HP:0001511
57 primary ovarian failure HP:0001587
58 thrombocytopenia HP:0001873
59 autoimmune hemolytic anemia HP:0001890
60 diarrhea HP:0002014
61 anal atresia HP:0002023
62 anal stenosis HP:0002025
63 bronchiectasis HP:0002110
64 neurodegeneration HP:0002180
65 lymphoma HP:0002665
66 recurrent bronchitis HP:0002837
67 rhabdomyosarcoma HP:0002859
68 medulloblastoma HP:0002885
69 dysgammaglobulinemia HP:0002961
70 long nose HP:0003189
71 short stature HP:0004322
72 recurrent infection of the gastrointestinal tract HP:0004798
73 t lymphocytopenia HP:0005403
74 progressive vitiligo HP:0005602
75 recurrent pneumonia HP:0006532
76 glioma HP:0009733
77 malar prominence HP:0010620
78 b lymphocytopenia HP:0010976

Drugs & Therapeutics for Nijmegen Breakage Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Nijmegen Breakage Syndrome

Genetic Tests for Nijmegen Breakage Syndrome

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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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MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

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

Animal Models for Nijmegen Breakage Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

36
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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Articles related to Nijmegen Breakage Syndrome:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
The role of nibrin in doxorubicin-induced apoptosis and cell senescence in Nijmegen Breakage Syndrome patients lymphocytes. (25119968)
2014
2
Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide. (24834778)
2014
3
Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. (23765759)
2013
4
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. (22293976)
2012
5
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. (22851427)
2012
6
Astrocyte dysfunction associated with cerebellar attrition in a Nijmegen breakage syndrome animal model. (21279473)
2011
7
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. (21923652)
2011
8
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. (20947454)
2010
9
Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. (19151620)
2009
10
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). (18937313)
2009
11
DNA double-strand break and chromosomal rejoining defects with misrejoining in Nijmegen breakage syndrome cells. (17919995)
2008
12
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
13
Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. (18593981)
2008
14
Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome. (18347309)
2008
15
Nijmegen breakage syndrome. (17712992)
2007
16
Differentiation of Nijmegen breakage syndrome from Fanconi anemia. (18050081)
2007
17
NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal proliferation and differentiation. (17442057)
2007
18
Impaired DNA double strand break repair in cells from Nijmegen breakage syndrome patients. (16309973)
2006
19
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. (16544999)
2006
20
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
21
Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome. (16765653)
2006
22
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
23
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. (16033915)
2006
24
Nijmegen breakage syndrome in Slovakia]. (15446459)
2004
25
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. (15333589)
2004
26
Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome. (15586667)
2004
27
The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. (15451479)
2004
28
Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. (15474156)
2004
29
Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex. (15493328)
2004
30
The Nijmegen breakage syndrome gene and its role in genome stability. (15258809)
2004
31
Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes. (14738145)
2003
32
Nijmegen breakage syndrome: a neuropathological study. (12973659)
2003
33
Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. (12483513)
2002
34
Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. (11839094)
2002
35
Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome. (12160977)
2002
36
Cranial MRI in the Nijmegen breakage syndrome. (10663471)
2000
37
Nijmegen breakage syndrome disease protein and MRE11 at PML nuclear bodies and meiotic telomeres. (10811102)
2000
38
Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1. (10838806)
2000
39
Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. (10799436)
2000
40
Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: case report. (10742414)
2000
41
Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts. (10377945)
1999
42
Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1. (9933573)
1999
43
G2 repair in Nijmegen breakage syndrome: G2 duration and effect of caffeine and cycloheximide in control and X-ray irradiated lymphocytes. (9650762)
1998
44
Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines. (9020962)
1997
45
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. (9132489)
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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Clinvar genetic disease variations for Nijmegen Breakage Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenicGRCh37Chr 8, 90983442: 90983446
2NBNNBN, 4-BP DEL, NT698deletionPathogenic
3NBNNBN, 4-BP DEL, NT835deletionPathogenic
4NBNNBN, 1-BP INSinsertionPathogenic
5NBNNBN, 1-BP DEL, 1142CdeletionPathogenic
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 variantPathogenicrs34767364GRCh37Chr 8, 90983460: 90983460
9NBNNBN, 2-BP INS, 742GGinsertionPathogenic

Expression for genes affiliated with Nijmegen Breakage Syndrome

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

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6NBN, ATM
29.5NBN, MRE11A
3
Show member pathways
9.4MRE11A, RAD50
49.1DCLRE1C, AICDA
5
Show member pathways
9.1RAD50, NBN, MRE11A
6
Show member pathways
9.0RAD50, ATM, MRE11A
79.0RAD50, ATM, MRE11A
89.0MRE11A, ATM, RAD50
9
Show member pathways
ATM Signaling Pathway37
9.0RAD50, ATM, MRE11A
10
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.0MRE11A, ATM, RAD50
11
Show member pathways
DNA damage response37
8.6RAD50, NBN, ATM, MRE11A
128.6RAD50, NBN, ATM, MRE11A
13
Show member pathways
8.6MRE11A, ATM, NBN, RAD50
14
Show member pathways
8.6MRE11A, ATM, NBN, RAD50
158.6MRE11A, ATM, NBN, RAD50
16
Show member pathways
Homologous recombination37
8.6MRE11A, ATM, NBN, RAD50
17
Show member pathways
8.6MRE11A, ATM, NBN, RAD50
188.6MRE11A, ATM, NBN, RAD50
19
Show member pathways
8.6MRE11A, ATM, NBN, RAD50
20
Show member pathways
8.5RAD50, LIG4, ATM, MRE11A
21
Show member pathways
8.1RAD50, LIG4, NBN, ATM, MRE11A
22
Show member pathways
8.1MRE11A, ATM, NBN, LIG4, RAD50
23
Show member pathways
Non-homologous end joining37
DNA damage NHEJ mechanisms of DSBs repair60
8.0MRE11A, NBN, DCLRE1C, LIG4, RAD50

Compounds for genes affiliated with Nijmegen Breakage Syndrome

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

idCompoundScoreTop Affiliating Genes
1methylmethanesulfonate449.6NBN, RAD50
2hydroxyurea44 50 1111.3RAD50, NBN, ATM
3tin(2+)449.3RAD50, NBN, MRE11A
4mononucleotide449.2RAD50, NBN, MRE11A
5bleomycin44 1110.2DCLRE1C, ATM
6phosphatidylinositol449.1LIG4, NBN, ATM
7etoposide44 50 61 1112.1DCLRE1C, NBN, ATM
8mitomycin c449.1MRE11A, ATM, NBN
9camptothecin44 61 1110.8MRE11A, ATM, NBN, RAD50

GO Terms for genes affiliated with Nijmegen Breakage Syndrome

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

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

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

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
13-5 exonuclease activityGO:0084089.5RAD50, MRE11A
2protein N-terminus bindingGO:0474859.3NBN, ATM
3protein C-terminus bindingGO:0080229.3LIG4, MRE11A
4ATP-dependent DNA helicase activityGO:0040039.2MRE11A, NBN, RAD50
5single-stranded DNA endodeoxyribonuclease activityGO:0000149.1RAD50, DCLRE1C, MRE11A
6DNA bindingGO:0036778.4MRE11A, ATM, LIG4, RAD50
7protein bindingGO:0055157.3MRE11A, AICDA, ATM, 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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet