MCID: NJM001
MIFTS: 69

Nijmegen Breakage Syndrome

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

Aliases & Classifications for Nijmegen Breakage Syndrome

MalaCards integrated aliases for Nijmegen Breakage Syndrome:

Name: Nijmegen Breakage Syndrome 53 12 72 23 49 24 55 71 36 13 51 41 14 69
Berlin Breakage Syndrome 12 72 49 24 55
Microcephaly, Normal Intelligence and Immunodeficiency 12 24 28
Nbs 53 55 71
Ataxia-Telangiectasia Variant V1 53 49
Seemanova Syndrome 12 24
Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies 53
Microcephaly with Normal Intelligence Immunodeficiency and Lymphoreticular Malignancies 49
Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence 53
Nonsyndromal Microcephaly Autosomal Recessive with Normal Intelligence 49
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome 55
Immunodeficiency, Microcephaly, and Chromosomal Instability 53
Immunodeficiency, Microcephaly with Normal Intelligence 49
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome 55
Microcephaly Immunodeficiency Lymphoreticuloma 49
Ataxia-Telangiectasia Variant V1; at-V1 53
Ataxia Telangiectasia Variant V1 72
Ataxia-Telangiectasia, Variant 1 55
Ataxia-Telangiectasia Variant 1 24
Seemanova Syndrome Type 2 55
Seemanova Syndrome Ii 53
Seemanova Syndrome 2 49
at-V1 53
at V1 55

Characteristics:

Orphanet epidemiological data:

55
nijmegen breakage syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
premature death
spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14
chromosomal hypersensitivity to ionizing radiation and alkylating agents
radioresistant dna synthesis


HPO:

31
nijmegen breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nijmegen Breakage Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 647Disease definitionNijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.EpidemiologyPrevalence and incidence are not known. 150 patients have been reported in the literature but many more are recorded in patient registries. The disease seems to occur worldwide, but has a much higher prevalence among Central and Eastern European Slavic populations due to a founder mutation.Clinical descriptionClinical manifestations are not pathognomonic and may vary in severity. The main signs are microcephaly, present at birth and progressing with age, dysmorphic facial features (prominent midface emphasized by a sloping forehead and receding mandible). Other facial characteristics are more subtle and diverse, e.g. upwardly slanted palpebral fissures, long and beaked nose or short nose with anteverted upturned nostrils. In a few patients, cleft lip/palate or choanal atresia have been described. Mild growth retardation, and, in females, premature ovarian insufficiency are common. Minor skeletal anomalies, such as clinodactyly of the 5th fingers and partial syndactyly of the 2nd and 3rd toes are found (50% of patients). Delayed speech development is common. Café au lait spots and/or vitiligo spots are observed (50-70%). Hair in NBS is usually thin and sparse in infancy but improves with age. Hair greying can appear as early as in the 2nd or 3rd decade. Congenital renal anomalies (hypoplasia/aplasia, horseshoe or double kidney, ectopic/dystopic kidneys) are relatively frequent. Hypospadias, cryptorchidism, urethro-anal fistula are also found. Immune deficiency with recurrent respiratory tract infections that may be life-threatening and a strong predisposition to malignancies (predominantly lymphoid) and radiosensitivity are other integral manifestations. By age 20, over 40% of patients develop a malignant disease.EtiologyNBS is caused by mutations in the NBN gene (8q21-q24) which lead to partially functional truncated fragments of nibrin, the gene product involved in repairing DNA double strand breaks.Diagnostic methodsDiagnosis is based on the clinical manifestations, chromosomal instability (spontaneous and induced), increased cellular sensitivity to ionizing radiation in vitro, combined immunodeficiency, mutations in both alleles of the NBN gene, and complete absence of full-length nibrin. Early diagnosis is very important to avoid severe recurrent infections, unnecessary exposure to radiation for diagnostic purposes, and adverse effects of radiotherapy for treatment of tumors. Analysis of the family pedigree can also support diagnosis (malignancies, microcephaly or hydrocephaly, early death of a sibling). Molecular testing confirms diagnosis.Differential diagnosisDifferential diagnosis includes Fanconi anemia, Bloom syndrome, NBS-like disorder, ataxia-telangectasia-like disorder, LIG4 syndrome, NHEJ1 syndrome and Seckel syndrome (see these terms).Antenatal diagnosisAffected families may be offered prenatal diagnosis by molecular analysis if both disease-causing gene mutations are known.Genetic counselingParents of an affected child are obligate carriers of NBN mutations (25% risk for each pregnancy). Parents should be offered monitoring for cancer. NBS follows an autosomal recessive pattern of inheritance.Management and treatmentThere is no specific therapy for NBS. Due to the specific defect underlying immune deficiency and sensitivity to IR radiation, patients require multidisciplinary management and long term follow-up (malignancy, immunodeficiency, growth, hypergonadotropic hypogonadism in females).PrognosisPrognosis is poor, with malignancy as the major cause of death.Visit the Orphanet disease page for more resources. Last updated: 12/1/2011

MalaCards based summary : Nijmegen Breakage Syndrome, also known as berlin breakage syndrome, is related to nijmegen breakage syndrome-like disorder and t-cell prolymphocytic leukemia, 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 Homologous recombination and Non-homologous end-joining. The drugs Dexamethasone and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and testes, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Genetics Home Reference : 24 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.

OMIM : 53 The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer. Ataxia-telangiectasia variant-1 is the designation applied to the Nijmegen breakage syndrome and AT variant-2 is the designation for the Berlin breakage syndrome, which differ only in complementation studies. Cells from NBS/BBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from those of ataxia-telangiectasia (AT; 208900), but NBS/BBS patients have a distinct clinical phenotype. The clinical features of LIG4 syndrome (606593), caused by mutation in the LIG4 gene (601837), resemble those of NBS. (251260)

UniProtKB/Swiss-Prot : 71 Nijmegen breakage syndrome: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.

Wikipedia : 72 Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis–Bar... 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 78)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome-like disorder 34.6 MRE11 RAD50
2 t-cell prolymphocytic leukemia 30.0 ATM CHEK2
3 bloom syndrome 29.6 ATM BRCA1 WRN
4 aging 29.5 CHEK2 TP53 WRN
5 ataxia-telangiectasia 28.8 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
6 fanconi anemia, complementation group a 28.7 ATM BRCA1 H2AFX LIG4 MRE11 NBN
7 neuroblastoma 11.8
8 nicolaides-baraitser syndrome 11.7
9 ataxia and polyneuropathy, adult-onset 10.6
10 leukemia 10.4
11 lymphoma 10.4
12 ataxia-telangiectasia-like disorder 1 10.4 MRE11 NBN
13 brca1 hereditary breast and ovarian cancer syndrome 10.3 BRCA1 NBN
14 lymphoblastic leukemia 10.3
15 microcephaly 10.3
16 breast-ovarian cancer, familial 1 10.3 BRCA1 NBN
17 cerebellar degeneration 10.3 ATM MRE11
18 cll/sll 10.3 ATM TP53
19 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.2
20 uterine corpus serous adenocarcinoma 10.2 BRCA1 TP53
21 richter's syndrome 10.2 ATM TP53
22 balanitis xerotica obliterans 10.2 H2AFX TP53
23 fallopian tube adenocarcinoma 10.2 BRCA1 TP53
24 papillary serous adenocarcinoma 10.2 BRCA1 TP53
25 li-fraumeni syndrome 2 10.2 CHEK2 TP53
26 medulloblastoma 10.2
27 glycogen-rich clear cell breast carcinoma 10.2 BRCA1 TP53
28 optic nerve neoplasm 10.2 H2AFX TP53
29 primary peritoneal carcinoma 10.1 BRCA1 TP53
30 breast cancer 10.1
31 prostate cancer 10.1
32 lymphoma, hodgkin, classic 10.1
33 prostatitis 10.1
34 artemis deficiency 10.1 H2AFX LIG4
35 mutagen sensitivity 10.1 BRCA1 TP53
36 cervix carcinoma 10.0 NBN TP53
37 pre-malignant neoplasm 10.0 BRCA1 TP53
38 lig4 syndrome 10.0 ATM LIG4 NBN
39 synchronous bilateral breast carcinoma 10.0 ATM BRCA1 TP53
40 myxosarcoma 10.0 ATM BRCA1 TP53
41 fallopian tube carcinoma 10.0 BRCA1 TP53
42 hepatocellular carcinoma 9.9
43 leukemia, acute monocytic 9.9
44 rheumatoid arthritis 9.9
45 lung cancer 9.9
46 schizencephaly 9.9
47 insulin-like growth factor i 9.9
48 intrauterine growth retardation with increased mitomycin c sensitivity 9.9
49 leukemia, acute myeloid 9.9
50 lymphoma, non-hodgkin, familial 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 via clinical synopsis from OMIM:

53
Head And Neck Head:
microcephaly
mastoiditis

Head And Neck Face:
micrognathia
sloping forehead
prominent midface
upward slanting of palpebral fissures

Neurologic Central Nervous System:
neurodegeneration
hyperactivity
normal iq in infancy, then iq drops with age
mental retardation by the age of 7 years

Head And Neck Nose:
choanal atresia
long nose (beaked or upturned)

Respiratory Lung:
recurrent pneumonia

Genitourinary Kidneys:
recurrent urinary tract infections
hydronephrosis

Hematology:
autoimmune hemolytic anemia
thrombocytopenia post hemolytic anemia

Immunology:
dysgammaglobulinemia
mild to moderately reduced t cell count
relatively increased number of natural killer cells

Skin Nails Hair Skin:
cafe au lait spots
depigmented spots
progressive vitiligo

Laboratory Abnormalities:
normal alpha fetoprotein
low t cell count
low b cell count
low cd4+ count
low cd4+/cd8+ ratio

Head And Neck Mouth:
cleft palate
cleft lip

Respiratory Nasopharynx:
sinusitis

Abdomen Gastroin testinal:
anal atresia
anal stenosis
diarrhea and recurrent gi infections

Head And Neck Ears:
otitis media
large dysplastic ears

Neoplasia:
lymphoma
rhabdomyosarcoma
medulloblastoma
glioma

Respiratory Airways:
bronchiectasis
bronchitis

Endocrine Features:
primary ovarian failure

Growth Other:
prenatal growth retardation

Growth Height:
short stature, most below 3rd percentile for height


Clinical features from OMIM:

251260

Human phenotypes related to Nijmegen Breakage Syndrome:

55 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004326
2 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
3 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 macrotia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000400
5 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
6 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
9 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
10 retrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000278
11 hearing abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000364
12 attention deficit hyperactivity disorder 55 31 hallmark (90%) Very frequent (99-80%) HP:0007018
13 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001873
14 abnormality of neuronal migration 55 31 occasional (7.5%) Occasional (29-5%) HP:0002269
15 prominent nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000426
16 abnormal hair quantity 55 31 hallmark (90%) Very frequent (99-80%) HP:0011362
17 non-midline cleft lip 55 31 occasional (7.5%) Occasional (29-5%) HP:0100335
18 respiratory failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0002878
19 abnormality of chromosome stability 55 31 hallmark (90%) Very frequent (99-80%) HP:0003220
20 upslanted palpebral fissure 55 31 hallmark (90%) Very frequent (99-80%) HP:0000582
21 anal atresia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002023
22 deep philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002002
23 chronic diarrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002028
24 recurrent pneumonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0006532
25 low anterior hairline 55 31 hallmark (90%) Very frequent (99-80%) HP:0000294
26 acute leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002488
27 lymphoma 55 31 Occasional (29-5%) HP:0002665
28 mental deterioration 55 31 hallmark (90%) Very frequent (99-80%) HP:0001268
29 convex nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000444
30 cutaneous photosensitivity 55 31 occasional (7.5%) Occasional (29-5%) HP:0000992
31 sloping forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000340
32 rhabdomyosarcoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002859
33 prominent nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000448
34 anal stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002025
35 freckling 55 31 occasional (7.5%) Occasional (29-5%) HP:0001480
36 autoimmune hemolytic anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001890
37 recurrent sinopulmonary infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0005425
38 glioma 55 31 occasional (7.5%) Occasional (29-5%) HP:0009733
39 t-cell lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0012190
40 b-cell lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0012191
41 pollakisuria 55 31 frequent (33%) Frequent (79-30%) HP:0100515
42 diarrhea 31 HP:0002014
43 intellectual disability 31 HP:0001249
44 recurrent respiratory infections 55 Very frequent (99-80%)
45 micrognathia 31 HP:0000347
46 hemolytic anemia 55 Very frequent (99-80%)
47 neoplasm 55 Frequent (79-30%)
48 sinusitis 31 HP:0000246
49 intrauterine growth retardation 31 HP:0001511
50 abnormality of the eyelid 55 Occasional (29-5%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.92 H2AFX LIG4 ATM MDC1 BRCA1 MRE11
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.92 H2AFX LIG4 ATM MDC1 BRCA1 MRE11
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 RAD50 TP53 WRN ATM BRCA1 CHEK2

MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 LIG4 MDC1 MRE11 NBN RAD50 TP53
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 ATM BRCA1 H2AFX LIG4 MDC1 NBN
5 homeostasis/metabolism MP:0005376 10.07 NBN TP53 WRN ATM BRCA1 CHEK2
6 immune system MP:0005387 10.06 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
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 ATM BRCA1 CHEK2 H2AFX LIG4 MRE11
10 nervous system MP:0003631 9.56 ATM BRCA1 CHEK2 LIG4 MRE11 NBN
11 reproductive system MP:0005389 9.32 MDC1 MRE11 NBN RAD50 TP53 WRN

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)
# 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, Investigational 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 6400441 383414
27 Etiracetam Investigational Phase 3 33996-58-6
28 Analgesics Phase 3
29 Analgesics, Non-Narcotic Phase 3
30 Anticonvulsants Phase 3
31 Antimanic Agents Phase 3
32 Central Nervous System Depressants Phase 3
33 Cytochrome P-450 CYP3A Inducers 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
Lactitol Investigational Phase 2 585-86-4 3871
42 Adjuvants, Immunologic Phase 2
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)

# Name Status NCT ID Phase Drugs
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 Dexamethasone
2 Levetiracetam Versus Standard Antiepileptic Drugs (Carbamazepine and Valproate) Used as Monotherapy in Patients With Newly Diagnosed Epilepsy Completed NCT00175903 Phase 3 Levetiracetam;Carbamazepine Controlled Release (CBZ-CR);Valproate Extended Release
3 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3 Lacosamide Tablet;Lasosamide Oral Solution
4 Safety and Biological Activity of C2L-OCT-01 PR in Acromegalic Patients Terminated NCT00642421 Phase 3 C2L-OCT-01 PR, 10 or 20 mg;C2L-OCT-01 PR, 20 mg
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 Fluticasone propionate 230mcg for 3 Months;Current Treatment or no treatment;Salmeterol 21mcg for 3 Months
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:

# Genetic test Affiliating Genes
1 Microcephaly, Normal Intelligence and Immunodeficiency 28 NBN

Anatomical Context for Nijmegen Breakage Syndrome

MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

38
Kidney, T Cells, Testes, B Cells, Breast, Skeletal Muscle, Brain

Publications for Nijmegen Breakage Syndrome

Articles related to Nijmegen Breakage Syndrome:

(show top 50) (show all 200)
# Title Authors Year
1
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome. ( 29445421 )
2018
2
Contribution of Double-strand Break Repair Gene Nijmegen Breakage Syndrome 1 Genotypes, Gender Difference and Smoking Status to Taiwanese Lung Cancer. ( 28476809 )
2017
3
Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants. ( 28790359 )
2017
4
Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT). ( 28791007 )
2017
5
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
6
Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients. ( 27545893 )
2016
7
T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome. ( 27785413 )
2016
8
Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. ( 26826318 )
2016
9
Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence. ( 28000062 )
2016
10
Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome. ( 25523867 )
2015
11
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. ( 26271390 )
2015
12
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). ( 25677497 )
2015
13
Generation of iPSC lines from a Nijmegen Breakage Syndrome patient. ( 26987925 )
2015
14
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
15
Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application. ( 26265251 )
2015
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
Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide. ( 24834778 )
2014
19
An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma. ( 24428841 )
2014
20
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
21
Clinical significance of increased expression of Nijmegen breakage syndrome gene (NBS1) in human primary liver cancer. ( 26202506 )
2014
22
Radiation-induced telomere length variations in normal and in Nijmegen Breakage Syndrome cells. ( 24168161 )
2014
23
Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome. ( 24619942 )
2014
24
Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line. ( 24928521 )
2014
25
Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific. ( 23458873 )
2013
26
Nijmegen breakage syndrome and chronic polyarthritis. ( 24044622 )
2013
27
Cutaneous sarcoid-like granulomas in a child known with nijmegen breakage syndrome. ( 23550270 )
2013
28
Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. ( 23765759 )
2013
29
Mutation Inactivation of Nijmegen Breakage Syndrome Gene (NBS1) in Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma. ( 24349281 )
2013
30
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
31
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress. ( 22396666 )
2012
32
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. ( 22293976 )
2012
33
Haploinsufficiency of the Nijmegen breakage syndrome 1 gene increases mammary tumor latency and metastasis. ( 22576691 )
2012
34
Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome. ( 22533239 )
2012
35
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. ( 22851427 )
2012
36
Nijmegen breakage syndrome (NBS). ( 22373003 )
2012
37
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. ( 21923652 )
2011
38
Astrocyte dysfunction associated with cerebellar attrition in a Nijmegen breakage syndrome animal model. ( 21279473 )
2011
39
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. ( 21227757 )
2011
40
Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis. ( 20924312 )
2011
41
Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia. ( 21557461 )
2011
42
Nijmegen breakage syndrome protein (NBN) causes resistance to methylating anticancer drugs such as temozolomide. ( 20729302 )
2010
43
Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome. ( 20609147 )
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
Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. ( 20167538 )
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
Telomerase upregulation is a postcrisis event during senescence bypass and immortalization of two Nijmegen breakage syndrome T cell cultures. ( 20089118 )
2010
48
Successful SCT for Nijmegen breakage syndrome. ( 19684627 )
2010
49
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. ( 20597108 )
2010
50
Speech impairment in Nijmegen breakage syndrome: a rare anomaly. ( 19195720 )
2009

Variations for Nijmegen Breakage Syndrome

ClinVar genetic disease variations for Nijmegen Breakage Syndrome:

6 (show top 50) (show all 79)
# Gene Variation Type Significance SNP ID Assembly Location
1 NBN NM_002485.4(NBN): c.698_701delAACA (p.Lys233Serfs) deletion Pathogenic rs587780100 GRCh37 Chromosome 8, 90983402: 90983405
2 NBN NM_002485.4(NBN): c.88_89delAA (p.Asn30Leufs) deletion Pathogenic/Likely pathogenic rs587781718 GRCh37 Chromosome 8, 90995032: 90995033
3 NBN NM_002485.4(NBN): c.123delC (p.Ser42Alafs) deletion Pathogenic rs587781891 GRCh37 Chromosome 8, 90994998: 90994998
4 NBN NM_002485.4(NBN): c.1142delC (p.Pro381Glnfs) deletion Pathogenic/Likely pathogenic rs587781969 GRCh37 Chromosome 8, 90967766: 90967766
5 NBN NM_002485.4(NBN): c.1474C> T (p.Gln492Ter) single nucleotide variant Pathogenic rs587782130 GRCh37 Chromosome 8, 90965843: 90965843
6 NBN NM_002485.4(NBN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200287925 GRCh37 Chromosome 8, 90994994: 90994994
7 NBN NM_002485.4(NBN): c.1903A> T (p.Lys635Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782545 GRCh37 Chromosome 8, 90960063: 90960063
8 NBN NM_002485.4(NBN): c.2140C> T (p.Arg714Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881864 GRCh38 Chromosome 8, 89943297: 89943297
9 NBN NM_002485.4(NBN): c.2117C> G (p.Ser706Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881857 GRCh37 Chromosome 8, 90955548: 90955548
10 NBN NM_002485.4(NBN): c.1397+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs730881850 GRCh37 Chromosome 8, 90967509: 90967509
11 NBN NM_002485.4(NBN): c.2071-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs786201965 GRCh37 Chromosome 8, 90955595: 90955595
12 NBN NM_002485.4(NBN): c.1723G> T (p.Glu575Ter) single nucleotide variant Pathogenic rs786201745 GRCh37 Chromosome 8, 90965594: 90965594
13 NBN NM_002485.4(NBN): c.808_809delGT (p.Val270Cysfs) deletion Pathogenic rs786202490 GRCh37 Chromosome 8, 90982679: 90982680
14 NBN NM_002485.4(NBN): c.210_211delTA (p.Asp70Glufs) deletion Pathogenic rs786202494 GRCh37 Chromosome 8, 90993712: 90993713
15 NBN NM_002485.4(NBN): c.37+1G> A single nucleotide variant Likely pathogenic rs574673404 GRCh37 Chromosome 8, 90996752: 90996752
16 NBN NM_002485.4(NBN): c.2165G> A (p.Trp722Ter) single nucleotide variant Pathogenic rs786204181 GRCh38 Chromosome 8, 89943272: 89943272
17 NBN NM_002485.4(NBN): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767215758 GRCh38 Chromosome 8, 89958819: 89958819
18 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic,risk factor rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
19 NBN NM_002485.4(NBN): c.835_838delCAGA (p.Gln279Profs) deletion Pathogenic rs864309668 GRCh38 Chromosome 8, 89970422: 89970425
20 NBN NM_002485.4(NBN): c.842dupT (p.Leu281Phefs) duplication Pathogenic rs864309669 GRCh38 Chromosome 8, 89970418: 89970418
21 NBN NM_002485.4(NBN): c.976C> T (p.Gln326Ter) single nucleotide variant Pathogenic rs121908973 GRCh37 Chromosome 8, 90976656: 90976656
22 NBN NM_002485.4(NBN): c.511A> G (p.Ile171Val) single nucleotide variant risk factor rs61754966 GRCh37 Chromosome 8, 90990521: 90990521
23 NBN NM_002485.4(NBN): c.1089C> A (p.Tyr363Ter) single nucleotide variant Pathogenic rs121908974 GRCh37 Chromosome 8, 90970988: 90970988
24 NBN NM_002485.4(NBN): c.741_742dupGG (p.Glu248Glyfs) duplication Pathogenic rs864309670 GRCh37 Chromosome 8, 90982746: 90982747
25 NBN NM_002485.4(NBN): c.2185-?_*(1_?)del deletion Likely pathogenic GRCh37 Chromosome 8, 90947809: 90949303
26 NBN NM_002485.4(NBN): c.897-?_2184+?del deletion Pathogenic GRCh37 Chromosome 8, 90955481: 90976735
27 NBN NM_002485.4(NBN): c.211_212insGA (p.Asn71Argfs) insertion Pathogenic rs762664474 GRCh37 Chromosome 8, 90993711: 90993712
28 NBN NM_002485.4(NBN): c.1747C> T (p.Gln583Ter) single nucleotide variant Pathogenic rs864622143 GRCh37 Chromosome 8, 90965570: 90965570
29 NBN NM_002485.4(NBN): c.1419_1431dupAGAAATGTCTTCA (p.Cys478Argfs) duplication Pathogenic rs864622333 GRCh37 Chromosome 8, 90965886: 90965898
30 NBN NM_002485.4(NBN): c.897-2A> T single nucleotide variant Likely pathogenic rs864622090 GRCh37 Chromosome 8, 90976737: 90976737
31 NBN NM_002485.4(NBN): c.115delC (p.Gln39Serfs) deletion Pathogenic rs864622511 GRCh37 Chromosome 8, 90995006: 90995006
32 NBN NM_002485.4(NBN): c.93_94delTG (p.Ala32Hisfs) deletion Pathogenic rs864622253 GRCh37 Chromosome 8, 90995027: 90995028
33 NBN NM_002485.4(NBN): c.2071-1G> A single nucleotide variant Likely pathogenic rs786201965 GRCh37 Chromosome 8, 90955595: 90955595
34 NBN NM_002485.4(NBN): c.1651dupA (p.Arg551Lysfs) duplication Pathogenic rs766044684 GRCh38 Chromosome 8, 89953438: 89953438
35 NBN NM_002485.4(NBN): c.995-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs876659521 GRCh37 Chromosome 8, 90971084: 90971084
36 NBN NM_002485.4(NBN): c.2185-1G> A single nucleotide variant Likely pathogenic rs1057517262 GRCh38 Chromosome 8, 89937076: 89937076
37 NBN NM_002485.4(NBN): c.2070+2delT deletion Likely pathogenic rs1057517075 GRCh37 Chromosome 8, 90958366: 90958366
38 NBN NM_002485.4(NBN): c.2049_2050delAAinsT (p.Lys683Asnfs) indel Likely pathogenic rs1057516869 GRCh37 Chromosome 8, 90958388: 90958389
39 NBN NM_002485.4(NBN): c.2000_2001delCT (p.Ser667Tyrfs) deletion Likely pathogenic rs1057516852 GRCh37 Chromosome 8, 90958437: 90958438
40 NBN NM_002485.4(NBN): c.1974delA (p.Glu658Aspfs) deletion Pathogenic/Likely pathogenic rs1057516668 GRCh38 Chromosome 8, 89946236: 89946236
41 NBN NM_002485.4(NBN): c.1848delA (p.Glu617Lysfs) deletion Likely pathogenic rs1057516611 GRCh38 Chromosome 8, 89947890: 89947890
42 NBN NM_002485.4(NBN): c.1846-1G> A single nucleotide variant Likely pathogenic rs61753717 GRCh37 Chromosome 8, 90960121: 90960121
43 NBN NM_002485.4(NBN): c.1640delC (p.Ser547Terfs) deletion Likely pathogenic rs776417262 GRCh37 Chromosome 8, 90965677: 90965677
44 NBN NM_002485.4(NBN): c.1587dupA (p.Ser530Ilefs) duplication Likely pathogenic rs1057516332 GRCh37 Chromosome 8, 90965730: 90965730
45 NBN NM_002485.4(NBN): c.1125-1G> A single nucleotide variant Likely pathogenic rs1057517102 GRCh38 Chromosome 8, 89955556: 89955556
46 NBN NM_002485.4(NBN): c.1124+1G> A single nucleotide variant Likely pathogenic rs1057517209 GRCh37 Chromosome 8, 90970952: 90970952
47 NBN NM_002485.4(NBN): c.702+1G> A single nucleotide variant Likely pathogenic rs1057517104 GRCh38 Chromosome 8, 89971172: 89971172
48 NBN NM_002485.4(NBN): c.531delT (p.Phe177Leufs) deletion Likely pathogenic rs1057516787 GRCh37 Chromosome 8, 90990501: 90990501
49 NBN NM_002485.4(NBN): c.317dupT (p.Arg107Glnfs) duplication Likely pathogenic rs745355767 GRCh38 Chromosome 8, 89981378: 89981378
50 NBN NM_002485.4(NBN): c.265C> T (p.Arg89Ter) single nucleotide variant Likely pathogenic rs1057516320 GRCh37 Chromosome 8, 90993658: 90993658

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 KEGG:

36
# Name Kegg Source Accession
1 Homologous recombination hsa03440
2 Non-homologous end-joining hsa03450

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

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 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
12.56 ATM BRCA1 H2AFX MRE11 NBN RAD50
10
Show member pathways
12.51 BRCA1 MDC1 TP53 WRN
11
Show member pathways
12.44 ATM H2AFX MRE11 NBN RAD50 TP53
12
Show member pathways
12.44 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
13 12.43 ATM BRCA1 CHEK2 H2AFX LIG4 MRE11
14
Show member pathways
12.38 ATM BRCA1 MRE11 NBN RAD50 WRN
15 12.27 ATM CHEK2 MRE11 NBN RAD50 TP53
16 12.24 ATM BRCA1 CHEK2 MRE11 RAD50 TP53
17 12.23 ATM CHEK2 TP53
18
Show member pathways
12.23 ATM BRCA1 CHEK2 TP53
19
Show member pathways
12.23 ATM BRCA1 MRE11 NBN RAD50 WRN
20
Show member pathways
12.21 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
21 11.98 ATM CHEK2 TP53
22
Show member pathways
11.92 ATM BRCA1 CHEK2 MRE11 NBN RAD50
23
Show member pathways
11.88 MRE11 NBN RAD50
24 11.82 ATM MRE11 NBN RAD50 WRN
25 11.75 ATM BRCA1 CHEK2 TP53
26 11.71 ATM BRCA1 TP53
27
Show member pathways
11.71 ATM CHEK2 TP53
28 11.65 ATM BRCA1 CHEK2 MRE11 RAD50 TP53
29 11.62 ATM BRCA1 CHEK2 MDC1 NBN TP53
30 11.61 ATM CHEK2 TP53
31
Show member pathways
11.55 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
32 11.53 ATM H2AFX TP53
33
Show member pathways
11.48 ATM CHEK2 TP53
34 11.37 ATM BRCA1 MRE11 NBN RAD50 TP53
35 11.32 ATM BRCA1 TP53
36 11.23 BRCA1 LIG4 MRE11 NBN RAD50 WRN
37 11.18 BRCA1 TP53
38 11.18 ATM CHEK2 H2AFX
39
Show member pathways
11.1 ATM MRE11 NBN RAD50
40 11.09 ATM BRCA1 TP53
41
Show member pathways
11.03 ATM TP53
42 10.83 ATM CHEK2 H2AFX MDC1 MRE11 NBN
43 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)
# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.88 BRCA1 H2AFX MDC1 MRE11 NBN RAD50
2 PML body GO:0016605 9.73 CHEK2 MRE11 NBN TP53
3 nuclear chromosome, telomeric region GO:0000784 9.72 ATM LIG4 MRE11 NBN RAD50
4 nucleoplasm GO:0005654 9.7 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
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 9.56 H2AFX MRE11 NBN RAD50
8 Mre11 complex GO:0030870 9.54 MRE11 NBN RAD50
9 condensed chromosome GO:0000793 9.49 BRCA1 LIG4
10 replication fork GO:0005657 9.46 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)
# 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 response to ionizing radiation GO:0010212 9.88 ATM BRCA1 H2AFX LIG4
8 cell cycle arrest GO:0007050 9.87 ATM NBN TP53
9 DNA duplex unwinding GO:0032508 9.87 MRE11 NBN RAD50 WRN
10 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.86 MRE11 RAD50 WRN
11 telomere maintenance GO:0000723 9.86 ATM NBN RAD50 WRN
12 DNA double-strand break processing GO:0000729 9.85 ATM BRCA1 MRE11 NBN RAD50
13 strand displacement GO:0000732 9.85 ATM BRCA1 MRE11 NBN RAD50 WRN
14 DNA repair GO:0006281 9.85 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
15 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.83 ATM CHEK2 TP53
16 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.82 ATM BRCA1 CHEK2
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 9.79 MRE11 NBN RAD50
21 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.78 BRCA1 CHEK2 TP53
22 positive regulation of kinase activity GO:0033674 9.77 MRE11 NBN RAD50
23 replicative senescence GO:0090399 9.77 ATM CHEK2 TP53
24 positive regulation of telomere maintenance GO:0032206 9.76 MRE11 NBN RAD50
25 neuron apoptotic process GO:0051402 9.72 ATM LIG4
26 base-excision repair GO:0006284 9.72 TP53 WRN
27 negative regulation of telomere capping GO:1904354 9.72 ATM NBN RAD50
28 intrinsic apoptotic signaling pathway GO:0097193 9.71 NBN TP53
29 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.71 CHEK2 TP53
30 positive regulation of DNA repair GO:0045739 9.71 BRCA1 H2AFX
31 cell aging GO:0007569 9.71 TP53 WRN
32 chromosome organization GO:0051276 9.71 LIG4 MRE11
33 telomeric 3 overhang formation GO:0031860 9.71 MRE11 NBN RAD50
34 positive regulation of cell cycle arrest GO:0071158 9.7 BRCA1 TP53
35 response to X-ray GO:0010165 9.7 LIG4 TP53
36 mitotic G2 DNA damage checkpoint GO:0007095 9.7 MRE11 NBN
37 telomere maintenance via telomerase GO:0007004 9.69 MRE11 RAD50
38 intra-S DNA damage checkpoint GO:0031573 9.68 MDC1 MRE11
39 isotype switching GO:0045190 9.68 LIG4 NBN
40 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.68 NBN TP53
41 determination of adult lifespan GO:0008340 9.67 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 9.66 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 9.63 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)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.93 ATM CHEK2 LIG4 RAD50 TP53 WRN
2 DNA binding GO:0003677 9.86 ATM BRCA1 H2AFX LIG4 MRE11 RAD50
3 nucleotide binding GO:0000166 9.78 ATM CHEK2 LIG4 RAD50
4 protein C-terminus binding GO:0008022 9.62 LIG4 MDC1 MRE11 TP53
5 protein N-terminus binding GO:0047485 9.61 ATM NBN TP53
6 G-quadruplex DNA binding GO:0051880 9.4 RAD50 WRN
7 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.37 MRE11 RAD50
8 3-5 exonuclease activity GO:0008408 9.33 MRE11 RAD50 WRN
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 10.24 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....