NBS
MCID: NJM001
MIFTS: 67

Nijmegen Breakage Syndrome (NBS) malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Blood diseases, Immune diseases

Aliases & Classifications for Nijmegen Breakage Syndrome

Aliases & Descriptions for Nijmegen Breakage Syndrome:

Name: Nijmegen Breakage Syndrome 54 12 23 50 24 25 56 66 13 52 42 14 69
Berlin Breakage Syndrome 12 50 24 25 56
Nbs 56 66 3
Immunodeficiency, Microcephaly with Normal Intelligence 50 29
Microcephaly, Normal Intelligence and Immunodeficiency 12 25
Ataxia-Telangiectasia Variant 1 24 25
Seemanova Syndrome 12 25
Microcephaly with Normal Intelligence Immunodeficiency and Lymphoreticular Malignancies 50
Nonsyndromal Microcephaly Autosomal Recessive with Normal Intelligence 50
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome 56
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome 56
Microcephaly Immunodeficiency Lymphoreticuloma 50
Ataxia-Telangiectasia Variant V1 50
Ataxia-Telangiectasia, Variant 1 56
Seemanova Syndrome Type 2 56
Seemanova Syndrome 2 50
at-V1 24
at V1 56

Characteristics:

Orphanet epidemiological data:

56
nijmegen breakage syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
nijmegen breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 251260
Disease Ontology 12 DOID:7400
MeSH 42 D049932
NCIt 47 C4692
SNOMED-CT 64 234638009
Orphanet 56 ORPHA647
MESH via Orphanet 43 C531759 D049932
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 70 C0398791 C2930831
UMLS 69 C0398791

Summaries for Nijmegen Breakage Syndrome

OMIM : 54 The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal... (251260) more...

MalaCards based summary : Nijmegen Breakage Syndrome, also known as berlin breakage syndrome, is related to nijmegen breakage syndrome-like disorder and neuroblastoma, and has symptoms including cachexia, muscle weakness and short neck. An important gene associated with Nijmegen Breakage Syndrome is NBN (Nibrin), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drugs Dexamethasone and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and breast, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and cellular

Genetics Home Reference : 25 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.

UniProtKB/Swiss-Prot : 66 Nijmegen breakage syndrome: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.

Wikipedia : 71 Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome, ataxia telangiectasia variant... more...

GeneReviews: NBK1176

Related Diseases for Nijmegen Breakage Syndrome

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 Suite gene sharing:

(show top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome-like disorder 12.6
2 neuroblastoma 11.7
3 leukemia, acute promyelocytic, somatic 11.1
4 nicolaides-baraitser syndrome 10.9
5 ataxia 10.5
6 ataxia-telangiectasia 10.5
7 leukemia 10.3
8 lymphoma 10.3
9 lymphoblastic leukemia 10.2
10 breast cancer 10.2
11 microcephaly 10.2
12 lethal congenital contracture syndrome 7 10.2 BRCA1 NBN
13 lung clear cell-sugar-tumor 10.1 BRCA1 TP53
14 lymphoproliferative syndrome, ebv-associated, autosomal, 1 10.1 CHEK2 TP53
15 breast pericanalicular fibroadenoma 10.1 BRCA1 TP53
16 medulloblastoma 10.1
17 paraphimosis 10.1 BRCA1 TP53
18 childhood brain stem glioma 10.1 ATM TP53
19 postpartum depression 10.1 BRCA1 TP53
20 bladder colloid adenocarcinoma 10.1 BRCA1 TP53
21 uterine corpus endometrial stromal sarcoma 10.0 BRCA1 TP53
22 villoglandular endometrial endometrioid adenocarcinoma 10.0 ATM BRCA1 TP53
23 intraorbital meningioma 10.0 ATM BRCA1 TP53
24 porencephaly 1 10.0 ATM LIG4 NBN
25 prostate cancer 10.0
26 hodgkin lymphoma 10.0
27 prostatitis 10.0
28 bacteremia 10.0 BRCA1 MRE11
29 bronchogenic cyst 10.0 ATM BRCA1 CHEK2
30 polyembryoma of the ovary 10.0 ATM BRCA1 CHEK2
31 hidradenoma 9.9 BRCA1 LIG4 TP53
32 recombinase activating gene 1 deficiency 9.9 H2AFX LIG4
33 bronchiectasis oligospermia 9.9 ATM BRCA1 CHEK2 NBN
34 porokeratosis 9.9
35 thrombophlebitis 9.9
36 tuberculosis 9.9
37 intrahepatic cholangiocarcinoma 9.9
38 insulin-like growth factor i 9.9
39 neuronitis 9.9
40 rheumatoid arthritis 9.9
41 bloom syndrome 9.9
42 monocytic leukemia 9.9
43 acute monocytic leukemia 9.9
44 myeloid leukemia 9.9
45 arthritis 9.9
46 glioblastoma 9.9
47 lung cancer 9.9
48 b-cell lymphomas 9.9
49 intrauterine growth retardation with increased mitomycin c sensitivity 9.9
50 hiv-1 9.9

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



Diseases related to Nijmegen Breakage Syndrome

Symptoms & Phenotypes for Nijmegen Breakage Syndrome

Symptoms by clinical synopsis from OMIM:

251260

Clinical features from OMIM:

251260

Human phenotypes related to Nijmegen Breakage Syndrome:

56 32 (show top 50) (show all 74)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Very frequent (99-80%) HP:0004326
2 muscle weakness 56 32 Occasional (29-5%) HP:0001324
3 short neck 56 32 Very frequent (99-80%) HP:0000470
4 macrotia 56 32 Very frequent (99-80%) HP:0000400
5 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
6 microcephaly 56 32 Very frequent (99-80%) HP:0000252
7 short stature 56 32 Very frequent (99-80%) HP:0004322
8 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
9 cleft palate 56 32 Occasional (29-5%) HP:0000175
10 retrognathia 56 32 Very frequent (99-80%) HP:0000278
11 hearing abnormality 56 32 Very frequent (99-80%) HP:0000364
12 attention deficit hyperactivity disorder 56 32 Very frequent (99-80%) HP:0007018
13 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
14 abnormality of neuronal migration 56 32 Occasional (29-5%) HP:0002269
15 prominent nasal bridge 56 32 Very frequent (99-80%) HP:0000426
16 abnormal hair quantity 56 32 Very frequent (99-80%) HP:0011362
17 non-midline cleft lip 56 32 Occasional (29-5%) HP:0100335
18 respiratory failure 56 32 Occasional (29-5%) HP:0002878
19 abnormality of chromosome stability 56 32 Very frequent (99-80%) HP:0003220
20 upslanted palpebral fissure 56 32 Very frequent (99-80%) HP:0000582
21 anal atresia 56 32 Very frequent (99-80%) HP:0002023
22 deep philtrum 56 32 Very frequent (99-80%) HP:0002002
23 chronic diarrhea 56 32 Very frequent (99-80%) HP:0002028
24 recurrent pneumonia 56 32 Very frequent (99-80%) HP:0006532
25 low anterior hairline 56 32 Very frequent (99-80%) HP:0000294
26 acute leukemia 56 32 Occasional (29-5%) HP:0002488
27 lymphoma 56 32 Occasional (29-5%) HP:0002665
28 mental deterioration 56 32 Very frequent (99-80%) HP:0001268
29 convex nasal ridge 56 32 Very frequent (99-80%) HP:0000444
30 cutaneous photosensitivity 56 32 Occasional (29-5%) HP:0000992
31 sloping forehead 56 32 Very frequent (99-80%) HP:0000340
32 prominent nose 56 32 Very frequent (99-80%) HP:0000448
33 rhabdomyosarcoma 56 32 Occasional (29-5%) HP:0002859
34 anal stenosis 56 32 Very frequent (99-80%) HP:0002025
35 freckling 56 32 Occasional (29-5%) HP:0001480
36 autoimmune hemolytic anemia 56 32 Very frequent (99-80%) HP:0001890
37 recurrent sinopulmonary infections 56 32 Very frequent (99-80%) HP:0005425
38 glioma 56 32 Occasional (29-5%) HP:0009733
39 t-cell lymphoma 56 32 Occasional (29-5%) HP:0012190
40 b-cell lymphoma 56 32 Occasional (29-5%) HP:0012191
41 pollakisuria 56 32 Frequent (79-30%) HP:0100515
42 diarrhea 32 HP:0002014
43 intellectual disability 32 HP:0001249
44 recurrent respiratory infections 56 Very frequent (99-80%)
45 micrognathia 32 HP:0000347
46 hemolytic anemia 56 Very frequent (99-80%)
47 neoplasm 56 Frequent (79-30%)
48 sinusitis 32 HP:0000246
49 abnormality of the eyelid 56 Occasional (29-5%)
50 intrauterine growth retardation 32 HP:0001511

GenomeRNAi Phenotypes related to Nijmegen Breakage Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.92 CHEK2 H2AFX LIG4 ATM MDC1 BRCA1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.92 CHEK2 H2AFX LIG4 ATM MDC1 BRCA1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 MRE11 NBN RAD50 TP53 WRN ATM

MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
2 endocrine/exocrine gland MP:0005379 10.16 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
3 hematopoietic system MP:0005397 10.14 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
4 growth/size/body region MP:0005378 10.09 TP53 WRN ATM BRCA1 H2AFX LIG4
5 homeostasis/metabolism MP:0005376 10.07 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
6 immune system MP:0005387 10.06 LIG4 MDC1 MRE11 NBN RAD50 TP53
7 mortality/aging MP:0010768 10 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
8 embryo MP:0005380 9.95 ATM BRCA1 MRE11 NBN RAD50 TP53
9 neoplasm MP:0002006 9.85 NBN RAD50 TP53 WRN ATM BRCA1
10 nervous system MP:0003631 9.56 ATM BRCA1 CHEK2 LIG4 MRE11 NBN
11 reproductive system MP:0005389 9.32 ATM BRCA1 H2AFX LIG4 MDC1 MRE11

Drugs & Therapeutics for Nijmegen Breakage Syndrome

Drugs for Nijmegen Breakage Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
2
Ranibizumab Approved Phase 4 347396-82-1 459903
3 Angiogenesis Inhibitors Phase 4
4 Angiogenesis Modulating Agents Phase 4
5 Antiemetics Phase 4
6 Anti-Inflammatory Agents Phase 4
7 Antineoplastic Agents, Hormonal Phase 4,Phase 3
8 Autonomic Agents Phase 4
9 BB 1101 Phase 4
10 Dexamethasone 21-phosphate Phase 4
11 Dexamethasone acetate Phase 4 1177-87-3
12 Gastrointestinal Agents Phase 4,Phase 3
13 glucocorticoids Phase 4
14 HIV Protease Inhibitors Phase 4
15 Hormone Antagonists Phase 4
16 Hormones Phase 4
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
18 Peripheral Nervous System Agents Phase 4,Phase 3
19 Pharmaceutical Solutions Phase 4,Phase 3
20
protease inhibitors Phase 4
21 histidine Nutraceutical Phase 4
22
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
23 Piracetam Approved Phase 3 7491-74-9
24
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
25
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
26
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
27 Analgesics Phase 3
28 Analgesics, Non-Narcotic Phase 3
29 Anticonvulsants Phase 3
30 Antimanic Agents Phase 3
31 Central Nervous System Depressants Phase 3
32 Cytochrome P-450 CYP3A Inducers Phase 3
33 Etiracetam Phase 3
34 GABA Agents Phase 3
35 Neuroprotective Agents Phase 3
36 Neurotransmitter Agents Phase 3
37 Nootropic Agents Phase 3
38 Protective Agents Phase 3
39 Psychotropic Drugs Phase 3
40 Tranquilizing Agents Phase 3
41 Adjuvants, Immunologic Phase 2
42
Lactitol Phase 2 585-86-4 3871
43 MF59 oil emulsion Phase 2
44 Vaccines Phase 2
45
Menthol Approved 2216-51-5 16666
46 Antibodies
47 Immunoglobulins
48 Sulfalene
49 Adrenergic Agents
50 Adrenergic Agonists

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 Extension Study to Compare Long-term Efficacy and Safety of Ranibizumab Intravitreal Injections Versus Dexamethasone Intravitreal Implant in Patients With RVO Completed NCT01580020 Phase 4
2 Levetiracetam Versus Standard Antiepileptic Drugs (Carbamazepine and Valproate) Used as Monotherapy in Patients With Newly Diagnosed Epilepsy Completed NCT00175903 Phase 3
3 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3
4 Safety and Biological Activity of C2L-OCT-01 PR in Acromegalic Patients Terminated NCT00642421 Phase 3
5 Safety and Immunogenicity of Two Doses of a Tetravalent Influenza Vaccine in Adults Aged 18 Years and Above Completed NCT00620815 Phase 2
6 Genetic & Environmental Determinants Of Immune Phenotype Variance: Establishing A Path Towards Personalized Medicine Completed NCT01699893
7 Effect of a Mixture of Probiotics on the Antigen Specific Antibody Response in a Influenza Vaccination Model of Healthy Adults Completed NCT01652066
8 Performance of the HBV ELISPOT in the Detection of the T Cellular Immune Response in Patients Infected by HBV or Cured Completed NCT02909023
9 Sleep and Memory in Children Recruiting NCT02785328
10 Uncontrolled Lower Respiratory Symptoms in the WTC Survivor Program Recruiting NCT02024204
11 Incretin-mimetic Hypoglycemic Drugs and Severe Retinopathy Recruiting NCT02671864
12 Impulsivity in Tourette Syndrome : Behavioral and Neuroimaging Study Recruiting NCT02960698

Search NIH Clinical Center for Nijmegen Breakage Syndrome

Cochrane evidence based reviews: nijmegen breakage syndrome

Genetic Tests for Nijmegen Breakage Syndrome

Genetic tests related to Nijmegen Breakage Syndrome:

id Genetic test Affiliating Genes
1 Microcephaly, Normal Intelligence and Immunodeficiency 29
2 Nijmegen Breakage Syndrome 24 NBN

Anatomical Context for Nijmegen Breakage Syndrome

MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

39
T Cells, B Cells, Breast, Skeletal Muscle, Brain, Prostate, Liver

Publications for Nijmegen Breakage Syndrome

Articles related to Nijmegen Breakage Syndrome:

(show top 50) (show all 197)
id Title Authors Year
1
Contribution of Double-strand Break Repair Gene Nijmegen Breakage Syndrome 1 Genotypes, Gender Difference and Smoking Status to Taiwanese Lung Cancer. ( 28476809 )
2017
2
T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome. ( 27785413 )
2016
3
Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. ( 26826318 )
2016
4
Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence. ( 28000062 )
2016
5
Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients. ( 27545893 )
2016
6
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
7
Nijmegen breakage syndrome protein 1 (NBS1) modulates hypoxia inducible factor-1I+ (HIF-1I+) stability and promotes in vitro migration and invasion under ionizing radiation. ( 25959252 )
2015
8
Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application. ( 26265251 )
2015
9
Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome. ( 25523867 )
2015
10
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). ( 25677497 )
2015
11
Generation of iPSC lines from a Nijmegen Breakage Syndrome patient. ( 26987925 )
2015
12
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. ( 26271390 )
2015
13
Radiation-induced telomere length variations in normal and in Nijmegen Breakage Syndrome cells. ( 24168161 )
2014
14
An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma. ( 24428841 )
2014
15
Clinical significance of increased expression of Nijmegen breakage syndrome gene (NBS1) in human primary liver cancer. ( 26202506 )
2014
16
Nijmegen breakage syndrome fibroblasts expressing the C-terminal truncated NBN(p70) protein undergo p38/MK2-dependent premature senescence. ( 25214013 )
2014
17
The role of nibrin in doxorubicin-induced apoptosis and cell senescence in Nijmegen Breakage Syndrome patients lymphocytes. ( 25119968 )
2014
18
The prognostic impact of high Nijmegen breakage syndrome (NBS1) gene expression in ERG-negative prostate cancers lacking PTEN deletion is driven by KPNA2 expression. ( 24510842 )
2014
19
Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome. ( 24619942 )
2014
20
Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line. ( 24928521 )
2014
21
Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide. ( 24834778 )
2014
22
Nijmegen breakage syndrome and chronic polyarthritis. ( 24044622 )
2013
23
Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific. ( 23458873 )
2013
24
Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. ( 23765759 )
2013
25
Regulation of the Nijmegen breakage syndrome 1 gene NBS1 by c-myc, p53 and coactivators mediates estrogen protection from DNA damage in breast cancer cells. ( 23291854 )
2013
26
Cutaneous sarcoid-like granulomas in a child known with nijmegen breakage syndrome. ( 23550270 )
2013
27
Mutation Inactivation of Nijmegen Breakage Syndrome Gene (NBS1) in Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma. ( 24349281 )
2013
28
Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome. ( 22533239 )
2012
29
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. ( 22293976 )
2012
30
Nijmegen breakage syndrome (NBS). ( 22373003 )
2012
31
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress. ( 22396666 )
2012
32
Haploinsufficiency of the Nijmegen breakage syndrome 1 gene increases mammary tumor latency and metastasis. ( 22576691 )
2012
33
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. ( 22851427 )
2012
34
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. ( 21923652 )
2011
35
Astrocyte dysfunction associated with cerebellar attrition in a Nijmegen breakage syndrome animal model. ( 21279473 )
2011
36
Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia. ( 21557461 )
2011
37
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. ( 21227757 )
2011
38
Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis. ( 20924312 )
2011
39
Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. ( 20167538 )
2010
40
Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome. ( 20609147 )
2010
41
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. ( 20597108 )
2010
42
Nijmegen breakage syndrome protein (NBN) causes resistance to methylating anticancer drugs such as temozolomide. ( 20729302 )
2010
43
Telomerase upregulation is a postcrisis event during senescence bypass and immortalization of two Nijmegen breakage syndrome T cell cultures. ( 20089118 )
2010
44
High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. ( 20444919 )
2010
45
Successful SCT for Nijmegen breakage syndrome. ( 19684627 )
2010
46
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. ( 20947454 )
2010
47
Inactivation of the Nijmegen breakage syndrome gene leads to excess centrosome duplication via the ATR/BRCA1 pathway. ( 19244116 )
2009
48
Successful treatment of hodgkin lymphoma in nijmegen breakage syndrome. ( 19125088 )
2009
49
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). ( 18937313 )
2009
50
Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. ( 19151620 )
2009

Variations for Nijmegen Breakage Syndrome

ClinVar genetic disease variations for Nijmegen Breakage Syndrome:

6 (show top 50) (show all 65)
id Gene Variation Type Significance SNP ID Assembly Location
1 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic,risk factor rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
2 NBN NM_002485.4(NBN): c.835_838delCAGA (p.Gln279Profs) deletion Pathogenic rs864309668 GRCh38 Chromosome 8, 89970422: 89970425
3 NBN NM_002485.4(NBN): c.842dupT (p.Leu281Phefs) duplication Pathogenic rs864309669 GRCh38 Chromosome 8, 89970418: 89970418
4 NBN NM_002485.4(NBN): c.976C> T (p.Gln326Ter) single nucleotide variant Pathogenic rs121908973 GRCh37 Chromosome 8, 90976656: 90976656
5 NBN NM_002485.4(NBN): c.1089C> A (p.Tyr363Ter) single nucleotide variant Pathogenic rs121908974 GRCh37 Chromosome 8, 90970988: 90970988
6 NBN NM_002485.4(NBN): c.741_742dupGG (p.Glu248Glyfs) duplication Pathogenic rs864309670 GRCh37 Chromosome 8, 90982746: 90982747
7 NBN NM_002485.4(NBN): c.698_701delAACA (p.Lys233Serfs) deletion Pathogenic rs587780100 GRCh37 Chromosome 8, 90983402: 90983405
8 NBN NM_002485.4(NBN): c.88_89delAA (p.Asn30Leufs) deletion Pathogenic/Likely pathogenic rs587781718 GRCh37 Chromosome 8, 90995032: 90995033
9 NBN NM_002485.4(NBN): c.123delC (p.Ser42Alafs) deletion Pathogenic rs587781891 GRCh37 Chromosome 8, 90994998: 90994998
10 NBN NM_002485.4(NBN): c.1142delC (p.Pro381Glnfs) deletion Pathogenic rs587781969 GRCh37 Chromosome 8, 90967766: 90967766
11 NBN NM_002485.4(NBN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200287925 GRCh38 Chromosome 8, 89982766: 89982766
12 NBN NM_002485.4(NBN): c.1903A> T (p.Lys635Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782545 GRCh37 Chromosome 8, 90960063: 90960063
13 NBN NM_002485.4(NBN): c.2140C> T (p.Arg714Ter) single nucleotide variant Pathogenic rs730881864 GRCh38 Chromosome 8, 89943297: 89943297
14 NBN NM_002485.4(NBN): c.2117C> G (p.Ser706Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881857 GRCh37 Chromosome 8, 90955548: 90955548
15 NBN NM_002485.4(NBN): c.1397+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs730881850 GRCh37 Chromosome 8, 90967509: 90967509
16 NBN NM_002485.4(NBN): c.2071-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs786201965 GRCh37 Chromosome 8, 90955595: 90955595
17 NBN NM_002485.4(NBN): c.1723G> T (p.Glu575Ter) single nucleotide variant Pathogenic rs786201745 GRCh37 Chromosome 8, 90965594: 90965594
18 NBN NM_002485.4(NBN): c.808_809delGT (p.Val270Cysfs) deletion Pathogenic rs786202490 GRCh37 Chromosome 8, 90982679: 90982680
19 NBN NM_002485.4(NBN): c.210_211delTA (p.Asp70Glufs) deletion Pathogenic rs786202494 GRCh37 Chromosome 8, 90993712: 90993713
20 NBN NM_002485.4(NBN): c.37+1G> A single nucleotide variant Likely pathogenic rs574673404 GRCh37 Chromosome 8, 90996752: 90996752
21 NBN NM_002485.4(NBN): c.2165G> A (p.Trp722Ter) single nucleotide variant Pathogenic rs786204181 GRCh37 Chromosome 8, 90955500: 90955500
22 NBN NM_002485.4(NBN): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767215758 GRCh38 Chromosome 8, 89958819: 89958819
23 NBN NM_002485.4(NBN): c.842T> G (p.Leu281Ter) single nucleotide variant Pathogenic rs786205135 GRCh38 Chromosome 8, 89970418: 89970418
24 NBN NM_002485.4(NBN): c.2185-?_*(1_?)del deletion Likely pathogenic GRCh37 Chromosome 8, 90947809: 90949303
25 NBN NM_002485.4(NBN): c.897-?_2184+?del deletion Pathogenic GRCh37 Chromosome 8, 90955481: 90976735
26 NBN NM_002485.4(NBN): c.211_212insGA (p.Asn71Argfs) insertion Pathogenic rs762664474 GRCh38 Chromosome 8, 89981483: 89981484
27 NBN NM_002485.4(NBN): c.1747C> T (p.Gln583Ter) single nucleotide variant Pathogenic rs864622143 GRCh38 Chromosome 8, 89953342: 89953342
28 NBN NM_002485.4(NBN): c.1419_1431dupAGAAATGTCTTCA (p.Cys478Argfs) duplication Pathogenic rs864622333 GRCh38 Chromosome 8, 89953658: 89953670
29 NBN NM_002485.4(NBN): c.897-2A> T single nucleotide variant Likely pathogenic rs864622090 GRCh37 Chromosome 8, 90976737: 90976737
30 NBN NM_002485.4(NBN): c.115delC (p.Gln39Serfs) deletion Pathogenic rs864622511 GRCh37 Chromosome 8, 90995006: 90995006
31 NBN NM_002485.4(NBN): c.93_94delTG (p.Ala32Hisfs) deletion Pathogenic rs864622253 GRCh37 Chromosome 8, 90995027: 90995028
32 NBN NM_002485.4(NBN): c.1651dupA (p.Arg551Lysfs) duplication Pathogenic rs766044684 GRCh37 Chromosome 8, 90965666: 90965666
33 NBN NM_002485.4(NBN): c.995-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs876659521 GRCh37 Chromosome 8, 90971084: 90971084
34 NBN NM_002485.4(NBN): c.2185-1G> A single nucleotide variant Likely pathogenic rs1057517262 GRCh38 Chromosome 8, 89937076: 89937076
35 NBN NM_002485.4(NBN): c.2070+2delT deletion Likely pathogenic rs1057517075 GRCh37 Chromosome 8, 90958366: 90958366
36 NBN NM_002485.4(NBN): c.2049_2050delAAinsT (p.Lys683Asnfs) indel Likely pathogenic rs1057516869 GRCh38 Chromosome 8, 89946160: 89946161
37 NBN NM_002485.4(NBN): c.2000_2001delCT (p.Ser667Tyrfs) deletion Likely pathogenic rs1057516852 GRCh37 Chromosome 8, 90958437: 90958438
38 NBN NM_002485.4(NBN): c.1974delA (p.Glu658Aspfs) deletion Likely pathogenic rs1057516668 GRCh38 Chromosome 8, 89946236: 89946236
39 NBN NM_002485.4(NBN): c.1848delA (p.Glu617Lysfs) deletion Likely pathogenic rs1057516611 GRCh38 Chromosome 8, 89947890: 89947890
40 NBN NM_002485.4(NBN): c.1846-1G> A single nucleotide variant Likely pathogenic rs61753717 GRCh37 Chromosome 8, 90960121: 90960121
41 NBN NM_002485.4(NBN): c.1640delC (p.Ser547Terfs) deletion Likely pathogenic rs776417262 GRCh38 Chromosome 8, 89953449: 89953449
42 NBN NM_002485.4(NBN): c.1587dupA (p.Ser530Ilefs) duplication Likely pathogenic rs1057516332 GRCh38 Chromosome 8, 89953502: 89953502
43 NBN NM_002485.4(NBN): c.1125-1G> A single nucleotide variant Likely pathogenic rs1057517102 GRCh37 Chromosome 8, 90967784: 90967784
44 NBN NM_002485.4(NBN): c.1124+1G> A single nucleotide variant Likely pathogenic rs1057517209 GRCh37 Chromosome 8, 90970952: 90970952
45 NBN NM_002485.4(NBN): c.702+1G> A single nucleotide variant Likely pathogenic rs1057517104 GRCh37 Chromosome 8, 90983400: 90983400
46 NBN NM_002485.4(NBN): c.531delT (p.Phe177Leufs) deletion Likely pathogenic rs1057516787 GRCh37 Chromosome 8, 90990501: 90990501
47 NBN NM_002485.4(NBN): c.317dupT (p.Arg107Glnfs) duplication Likely pathogenic rs745355767 GRCh37 Chromosome 8, 90993606: 90993606
48 NBN NM_002485.4(NBN): c.265C> T (p.Arg89Ter) single nucleotide variant Likely pathogenic rs1057516320 GRCh37 Chromosome 8, 90993658: 90993658
49 NBN NM_002485.4(NBN): c.178dupA (p.Thr60Asnfs) duplication Likely pathogenic rs1057516392 GRCh38 Chromosome 8, 89981517: 89981517
50 NBN NM_002485.4(NBN): c.163_171+3del12 deletion Likely pathogenic rs1057516772 GRCh38 Chromosome 8, 89982719: 89982730

Expression for Nijmegen Breakage Syndrome

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

Pathways for Nijmegen Breakage Syndrome

Pathways related to Nijmegen Breakage Syndrome according to GeneCards Suite gene sharing:

(show all 41)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
2
Show member pathways
13.42 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
3
Show member pathways
13.15 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
4
Show member pathways
13.07 ATM H2AFX MRE11 NBN RAD50 TP53
5
Show member pathways
13.02 ATM BRCA1 CHEK2 MDC1 MRE11 NBN
6
Show member pathways
12.97 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
7
Show member pathways
12.73 ATM BRCA1 CHEK2 LIG4 MRE11 NBN
8
Show member pathways
12.59 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
9
Show member pathways
12.55 ATM BRCA1 H2AFX MRE11 NBN RAD50
10
Show member pathways
12.51 BRCA1 MDC1 TP53 WRN
11
Show member pathways
12.44 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
12
Show member pathways
12.43 ATM H2AFX MRE11 NBN RAD50 TP53
13 12.42 ATM BRCA1 CHEK2 H2AFX LIG4 MRE11
14
Show member pathways
12.37 ATM BRCA1 MRE11 NBN RAD50 WRN
15 12.24 ATM BRCA1 CHEK2 MRE11 RAD50 TP53
16
Show member pathways
12.23 ATM BRCA1 CHEK2 TP53
17
Show member pathways
12.23 ATM BRCA1 MRE11 NBN RAD50 WRN
18
Show member pathways
12.21 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
19 11.99 ATM CHEK2 TP53
20
Show member pathways
11.92 ATM BRCA1 CHEK2 MRE11 NBN RAD50
21 11.81 ATM MRE11 NBN RAD50 WRN
22 11.74 ATM BRCA1 CHEK2 TP53
23 11.71 ATM BRCA1 TP53
24
Show member pathways
11.71 ATM CHEK2 TP53
25 11.65 ATM BRCA1 CHEK2 MRE11 RAD50 TP53
26 11.62 ATM BRCA1 CHEK2 MDC1 NBN TP53
27 11.61 ATM CHEK2 TP53
28
Show member pathways
11.55 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
29 11.53 ATM H2AFX TP53
30
Show member pathways
11.47 ATM CHEK2 TP53
31 11.37 ATM BRCA1 MRE11 NBN RAD50 TP53
32 11.32 ATM BRCA1 TP53
33 11.23 BRCA1 LIG4 MRE11 NBN RAD50 WRN
34 11.18 BRCA1 TP53
35
Show member pathways
11.17 MRE11 NBN RAD50
36 11.17 ATM CHEK2 H2AFX
37
Show member pathways
11.09 ATM MRE11 NBN RAD50
38 11.08 ATM BRCA1 TP53
39
Show member pathways
11.02 ATM TP53
40 10.83 ATM CHEK2 H2AFX MDC1 MRE11 NBN
41 10.36 CHEK2 TP53

GO Terms for Nijmegen Breakage Syndrome

Cellular components related to Nijmegen Breakage Syndrome according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.9 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
2 chromosome GO:0005694 9.8 BRCA1 H2AFX MDC1 MRE11 NBN RAD50
3 nuclear chromosome, telomeric region GO:0000784 9.77 ATM LIG4 MRE11 NBN RAD50
4 PML body GO:0016605 9.73 CHEK2 MRE11 NBN TP53
5 nuclear chromatin GO:0000790 9.69 H2AFX RAD50 TP53
6 condensed nuclear chromosome GO:0000794 9.65 BRCA1 H2AFX RAD50
7 site of double-strand break GO:0035861 9.62 H2AFX MRE11 NBN RAD50
8 Mre11 complex GO:0030870 9.58 MRE11 NBN RAD50
9 condensed chromosome GO:0000793 9.49 BRCA1 LIG4
10 replication fork GO:0005657 9.26 H2AFX NBN TP53 WRN
11 chromosome, telomeric region GO:0000781 9.17 ATM CHEK2 H2AFX MRE11 NBN RAD50
12 nucleus GO:0005634 10.2 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1

Biological processes related to Nijmegen Breakage Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.98 LIG4 MRE11 NBN TP53
2 double-strand break repair via homologous recombination GO:0000724 9.95 ATM BRCA1 H2AFX MRE11 NBN RAD50
3 meiotic cell cycle GO:0051321 9.92 H2AFX MRE11 NBN RAD50
4 regulation of signal transduction by p53 class mediator GO:1901796 9.92 ATM BRCA1 CHEK2 MRE11 NBN RAD50
5 cellular response to gamma radiation GO:0071480 9.91 ATM CHEK2 H2AFX TP53 WRN
6 DNA synthesis involved in DNA repair GO:0000731 9.91 ATM BRCA1 MRE11 NBN RAD50 WRN
7 cell cycle arrest GO:0007050 9.87 ATM NBN TP53
8 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.87 MRE11 RAD50 WRN
9 response to ionizing radiation GO:0010212 9.87 ATM BRCA1 H2AFX LIG4
10 DNA duplex unwinding GO:0032508 9.86 MRE11 NBN RAD50 WRN
11 DNA double-strand break processing GO:0000729 9.85 ATM BRCA1 MRE11 NBN RAD50
12 strand displacement GO:0000732 9.85 ATM BRCA1 MRE11 NBN RAD50 WRN
13 DNA repair GO:0006281 9.85 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
14 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.83 ATM CHEK2 TP53
15 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.83 ATM BRCA1 CHEK2
16 telomere maintenance GO:0000723 9.82 NBN RAD50 WRN
17 response to gamma radiation GO:0010332 9.82 CHEK2 LIG4 TP53
18 DNA damage checkpoint GO:0000077 9.81 CHEK2 H2AFX NBN
19 reciprocal meiotic recombination GO:0007131 9.8 ATM MRE11 RAD50
20 positive regulation of protein autophosphorylation GO:0031954 9.8 MRE11 NBN RAD50
21 telomere maintenance via telomerase GO:0007004 9.79 ATM MRE11 RAD50
22 positive regulation of kinase activity GO:0033674 9.77 MRE11 NBN RAD50
23 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.77 BRCA1 CHEK2 TP53
24 replicative senescence GO:0090399 9.76 ATM CHEK2 TP53
25 positive regulation of telomere maintenance GO:0032206 9.75 MRE11 NBN RAD50
26 neuron apoptotic process GO:0051402 9.72 ATM LIG4
27 base-excision repair GO:0006284 9.72 TP53 WRN
28 negative regulation of telomere capping GO:1904354 9.72 ATM NBN RAD50
29 intrinsic apoptotic signaling pathway GO:0097193 9.71 NBN TP53
30 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.71 CHEK2 TP53
31 positive regulation of DNA repair GO:0045739 9.71 BRCA1 H2AFX
32 cell aging GO:0007569 9.71 TP53 WRN
33 chromosome organization GO:0051276 9.71 LIG4 MRE11
34 telomeric 3 overhang formation GO:0031860 9.71 MRE11 NBN RAD50
35 positive regulation of cell cycle arrest GO:0071158 9.7 BRCA1 TP53
36 response to X-ray GO:0010165 9.7 LIG4 TP53
37 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.69 NBN TP53
38 isotype switching GO:0045190 9.69 LIG4 NBN
39 intra-S DNA damage checkpoint GO:0031573 9.68 MDC1 MRE11
40 mitotic G2 DNA damage checkpoint GO:0007095 9.68 MRE11 NBN
41 determination of adult lifespan GO:0008340 9.68 ATM TP53
42 t-circle formation GO:0090656 9.67 NBN WRN
43 V(D)J recombination GO:0033151 9.67 ATM LIG4
44 DNA damage induced protein phosphorylation GO:0006975 9.67 ATM CHEK2
45 chromosome organization involved in meiotic cell cycle GO:0070192 9.66 ATM RAD50
46 replicative cell aging GO:0001302 9.65 CHEK2 WRN
47 regulation of mitotic recombination GO:0000019 9.64 MRE11 RAD50
48 double-strand break repair GO:0006302 9.56 BRCA1 CHEK2 H2AFX LIG4 MRE11 NBN
49 double-strand break repair via nonhomologous end joining GO:0006303 9.23 ATM BRCA1 H2AFX LIG4 MDC1 MRE11
50 cell cycle GO:0007049 10.15 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1

Molecular functions related to Nijmegen Breakage Syndrome according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.91 ATM CHEK2 LIG4 RAD50 TP53 WRN
2 DNA binding GO:0003677 9.86 ATM BRCA1 H2AFX LIG4 MRE11 RAD50
3 nucleotide binding GO:0000166 9.76 ATM CHEK2 LIG4 RAD50
4 protein C-terminus binding GO:0008022 9.67 LIG4 MDC1 MRE11
5 protein N-terminus binding GO:0047485 9.58 ATM NBN TP53
6 G-quadruplex DNA binding GO:0051880 9.37 RAD50 WRN
7 3-5 exonuclease activity GO:0008408 9.33 MRE11 RAD50 WRN
8 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.32 MRE11 RAD50
9 damaged DNA binding GO:0003684 9.26 BRCA1 H2AFX NBN TP53
10 ATP-dependent DNA helicase activity GO:0004003 8.92 MRE11 NBN RAD50 WRN
11 protein binding GO:0005515 10.22 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1

Sources for Nijmegen Breakage Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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