NBS
MCID: NJM001
MIFTS: 73

Nijmegen Breakage Syndrome (NBS)

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

Aliases & Classifications for Nijmegen Breakage Syndrome

MalaCards integrated aliases for Nijmegen Breakage Syndrome:

Name: Nijmegen Breakage Syndrome 57 12 76 24 53 25 59 75 29 13 55 44 15 40 73
Berlin Breakage Syndrome 12 76 53 25 59
Microcephaly, Normal Intelligence and Immunodeficiency 12 25 29 6
Nbs 57 59 75 3
Ataxia-Telangiectasia Variant V1 57 53
Seemanova Syndrome 12 25
Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies 57
Microcephaly with Normal Intelligence Immunodeficiency and Lymphoreticular Malignancies 53
Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence 57
Nonsyndromal Microcephaly Autosomal Recessive with Normal Intelligence 53
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome 59
Immunodeficiency, Microcephaly, and Chromosomal Instability 57
Immunodeficiency, Microcephaly with Normal Intelligence 53
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome 59
Microcephaly Immunodeficiency Lymphoreticuloma 53
Ataxia-Telangiectasia Variant V1; at-V1 57
Ataxia Telangiectasia Variant V1 76
Ataxia-Telangiectasia, Variant 1 59
Ataxia-Telangiectasia Variant 1 25
Seemanova Syndrome Type 2 59
Seemanova Syndrome Ii 57
Seemanova Syndrome 2 53
at-V1 57
at V1 59

Characteristics:

Orphanet epidemiological data:

59
nijmegen breakage syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
nijmegen breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nijmegen Breakage Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Nijmegen Breakage Syndrome, also known as berlin breakage syndrome, is related to nijmegen breakage syndrome-like disorder and ataxia-telangiectasia. 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 kidney, testes and t cells, and related phenotypes are short neck and muscle weakness

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.

OMIM : 57 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)

CDC : 3  

UniProtKB/Swiss-Prot : 75 Nijmegen breakage syndrome: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.

Wikipedia : 76 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 119)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome-like disorder 34.6 MRE11 RAD50
2 ataxia-telangiectasia 30.1 TP53 RAD50 NBN MRE11 H2AFX CHEK2
3 lymphoma, non-hodgkin, familial 30.1 ATM NBN TP53
4 t-cell prolymphocytic leukemia 30.0 ATM CHEK2
5 fanconi anemia, complementation group a 29.3 WRN RAD50 NBN MRE11 LIG4 H2AFX
6 neuroblastoma 12.0
7 nicolaides-baraitser syndrome 11.3
8 lymphoma 10.6
9 leukemia 10.5
10 lymphocytic leukemia 10.4
11 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.4
12 microcephaly 10.4
13 vitiligo-associated multiple autoimmune disease susceptibility 1 10.4
14 adenocarcinoma 10.3
15 breast cancer 10.3
16 leukemia, acute lymphoblastic 10.3
17 acute lymphoblastic leukemia, childhood 10.3
18 suppression of tumorigenicity 12 10.3
19 adamantinoma of long bones 10.3
20 medulloblastoma 10.2
21 lymphoma, hodgkin, classic 10.2
22 psoriasis 10.2
23 ataxia-telangiectasia-like disorder 1 10.2 MRE11 NBN
24 cerebellar degeneration 10.2 ATM MRE11
25 psoriasis 2 10.2
26 psoriasis 7 10.2
27 psoriasis 11 10.2
28 psoriasis 13 10.2
29 cll/sll 10.1 ATM TP53
30 breast-ovarian cancer, familial 1 10.1 BRCA1 NBN
31 myxosarcoma 10.1 ATM TP53
32 richter's syndrome 10.1 ATM TP53
33 uterine corpus serous adenocarcinoma 10.1 BRCA1 TP53
34 papillary serous adenocarcinoma 10.1 BRCA1 TP53
35 glycogen-rich clear cell breast carcinoma 10.1 BRCA1 TP53
36 li-fraumeni syndrome 2 10.1 CHEK2 TP53
37 uterine corpus cancer 10.1 BRCA1 TP53
38 optic nerve neoplasm 10.1 H2AFX TP53
39 hepatocellular carcinoma 10.1
40 leukemia, acute monocytic 10.1
41 prostate cancer 10.1
42 rheumatoid arthritis 10.1
43 bloom syndrome 10.1
44 lung cancer 10.1
45 schizencephaly 10.1
46 insulin-like growth factor i 10.1
47 intrauterine growth retardation with increased mitomycin c sensitivity 10.1
48 leukemia, acute myeloid 10.1
49 aplastic anemia 10.1
50 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1

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:

57
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 Gastrointestinal:
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:

59 32 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
3 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
8 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
9 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
10 hearing abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000364
11 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
12 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
13 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
14 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
15 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
16 abnormal hair quantity 59 32 hallmark (90%) Very frequent (99-80%) HP:0011362
17 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
18 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
19 abnormality of chromosome stability 59 32 hallmark (90%) Very frequent (99-80%) HP:0003220
20 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
21 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
22 deep philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002002
23 chronic diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002028
24 recurrent pneumonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006532
25 low anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0000294
26 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
27 lymphoma 59 32 Occasional (29-5%) HP:0002665
28 mental deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001268
29 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
30 cutaneous photosensitivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000992
31 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
32 rhabdomyosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002859
33 pollakisuria 59 32 frequent (33%) Frequent (79-30%) HP:0100515
34 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
35 anal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002025
36 freckling 59 32 occasional (7.5%) Occasional (29-5%) HP:0001480
37 autoimmune hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001890
38 recurrent sinopulmonary infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0005425
39 glioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009733
40 t-cell lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012190
41 b-cell lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012191
42 intellectual disability 32 HP:0001249
43 recurrent respiratory infections 59 Very frequent (99-80%)
44 micrognathia 32 HP:0000347
45 hemolytic anemia 59 Very frequent (99-80%)
46 neoplasm 59 Frequent (79-30%)
47 sinusitis 32 HP:0000246
48 intrauterine growth retardation 32 HP:0001511
49 premature ovarian insufficiency 32 HP:0008209
50 abnormality of the eyelid 59 Occasional (29-5%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.92 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.92 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
4 Decreased TP53 mRNA expression GR00389-S-5 9.16 ATM TP53

MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

46 (show all 11)
# 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 ATM BRCA1 H2AFX LIG4 MDC1 NBN
5 homeostasis/metabolism MP:0005376 10.07 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
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 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 126)
# 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
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
5 Immunologic Factors Phase 4,Phase 2,Not Applicable
6 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
7 Antineoplastic Agents, Hormonal Phase 4,Phase 3
8 Dexamethasone 21-phosphate Phase 4
9 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1,Not Applicable
10 Gastrointestinal Agents Phase 4,Phase 3
11 glucocorticoids Phase 4,Phase 2
12 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
13 HIV Protease Inhibitors Phase 4
14
protease inhibitors Phase 4
15 Angiogenesis Modulating Agents Phase 4
16 Antiemetics Phase 4,Phase 3
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
18 Autonomic Agents Phase 4,Phase 3,Phase 2,Not Applicable
19 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 BB 1101 Phase 4
22 Angiogenesis Inhibitors Phase 4
23
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
24
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
25 Piracetam Approved, Investigational Phase 3 7491-74-9
26
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
27 lanreotide Approved Phase 3 108736-35-2
28
Glycerol Approved, Investigational Phase 3 56-81-5 753
29
Peppermint oil Approved, Investigational Phase 3 8006-90-4
30
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
31
Peppermint Approved Phase 3
32
Ethanol Approved Phase 3 64-17-5 702
33
Zoledronic acid Approved Phase 3 118072-93-8 68740
34
Lacosamide Approved Phase 3 175481-36-4, 860352-01-8 219078
35
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
36 Etiracetam Investigational Phase 3 33996-58-6
37 Tranquilizing Agents Phase 3
38 Cytochrome P-450 CYP3A Inducers Phase 3
39 Nootropic Agents Phase 3
40 Central Nervous System Depressants Phase 3
41 Analgesics, Non-Narcotic Phase 3,Phase 1
42 Analgesics Phase 3,Phase 1
43 Neuroprotective Agents Phase 3
44 Neurotransmitter Agents Phase 3,Not Applicable
45 Psychotropic Drugs Phase 3
46 Anticonvulsants Phase 3
47 Protective Agents Phase 3,Not Applicable
48 GABA Agents Phase 3
49 Antimanic Agents Phase 3
50 Angiopeptin Phase 3

Interventional clinical trials:

(show all 34)
# 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 Clinical Evaluation of Biofinity Multifocal Compared With Air Optix Aqua Multifocal and With PureVision Multifocal Completed NCT01591499 Phase 4
3 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
4 Lanreotide Autogel and Pegvisomant Combination Therapy in Acromegalic Patients Completed NCT00383708 Phase 3 lanreotide (Autogel formulation);Pegvisomant
5 Dermacyd in Odor Reducing. Completed NCT01158365 Phase 3 LACTIC ACID (Dermacid);Glycerine Vegetal Soap Granado Traditional
6 An Open Trial to Assess the Tolerability of AVANZ Phleum Pratense Immunotherapy Completed NCT01454531 Phase 2, Phase 3 AVANZ Phleum pratense
7 A Safety, Efficacy and Tolerability Study of Sativex for the Treatment of Spasticity in Children Aged 8 to 18 Years Completed NCT01898520 Phase 3 Sativex;Placebo
8 Zoledronic Acid Compared to Percutaneous Treatment in Osteoid Osteoma Recruiting NCT02739555 Phase 3 Acide Zoledronique MEDAC
9 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
10 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
11 Dose Finding Study to Assess Octenidine Mouthwash Concentrations in Comparison to Placebo Completed NCT02138552 Phase 2 Octenidine dihydrochloride;Placebo
12 Safety and Immunogenicity of Two Doses of a Tetravalent Influenza Vaccine in Adults Aged 18 Years and Above Completed NCT00620815 Phase 2
13 A Study to Assess the Efficacy and Safety of Multiple Dose Levels of AZD7594 Administered Once Daily by Inhalation in Asthmatic Subjects Not yet recruiting NCT03622112 Phase 2 AZD7594 DPI 55μg/50μg.;AZD7594 DPI 99 µg/90 µg;AZD7594 DPI 198 µg/180 µg;AZD7594 DPI 396 µg/360 µg once daily.;AZD7594 DPI 792 µg/720 µg;Placebo for AZD7594 once daily.;FF 100 µg once daily (open-label)
14 Evaluation of (R)-Roscovitine Safety and Effects in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation Terminated NCT02649751 Phase 2 Roscovitine;Placebo
15 Iloprost for Bridging to Heart Transplantation in PH Withdrawn NCT02482402 Phase 2 Inhaled Iloprost;Placebo
16 Bioavailability, Pharmacokinetics and Tissue Distribution of R-flurbiprofen Capsules in Healthy Subjects Completed NCT02206854 Phase 1 R-flurbiprofen
17 Sleep and Memory in Children Unknown status NCT02785328 Not Applicable
18 Immunogenicity of a Combined Anti-pneumococcal Vaccine Schedule in Patients With ANCA-associated Vasculitis Unknown status NCT02463578
19 Genetic & Environmental Determinants Of Immune Phenotype Variance: Establishing A Path Towards Personalized Medicine Completed NCT01699893 Not Applicable
20 Effect of a Mixture of Probiotics on the Antigen Specific Antibody Response in a Influenza Vaccination Model of Healthy Adults Completed NCT01652066 Not Applicable
21 Performance of the HBV ELISPOT in the Detection of the T Cellular Immune Response in Patients Infected by HBV or Cured Completed NCT02909023
22 The Effect of Pramipexole on Metabolic Network Activity Compared With Levodopa in Early Parkinson's Disease Completed NCT01470859 Not Applicable pramipexole;Sinemet CR
23 Study of the Effect of Testosterone Treatment on Metabolic Parameters and Urinary Symptoms in Bariatric Patients Completed NCT02248467
24 Cell Distribution in Induced Sputum in Patients With Asthma Completed NCT01543516
25 Efficacy of FLACS USFREE Compared to Traditional Surgery Using Ultrasound. Completed NCT03050008 Not Applicable
26 Treatment Adherence to Injectable Methotrexate in Rheumatoid Arthritis Completed NCT02897817
27 Protocol TARC-ABPA Completed NCT01710930 Not Applicable
28 Uncontrolled Lower Respiratory Symptoms in the WTC Survivor Program Recruiting NCT02024204 Not Applicable Fluticasone propionate 230mcg for 3 Months;Current Treatment or no treatment;Salmeterol 21mcg for 3 Months
29 Incretin-mimetic Hypoglycemic Drugs and Severe Retinopathy Recruiting NCT02671864 Not Applicable
30 Impulsivity in Tourette Syndrome : Behavioral and Neuroimaging Study Recruiting NCT02960698 Not Applicable
31 Concussion in Rugby Players: a Pilot Study of Neural Recovery Using fMRI Recruiting NCT02988609 Not Applicable
32 MRI Biomarkers in as Predictor of Clinical Endpoints in Pediatric Autoimmune Liver Disease Recruiting NCT03178630
33 "Me and My Heart" Study Active, not recruiting NCT02615704
34 Diagnostic Yield of Post PRandial Esophageal High Resolution Impedance Manometry in Patients With Gastro-Esophageal Reflux Disease Symptoms Resistant to Proton Pump Inhibitor Therapy Not yet recruiting NCT03596476 Not Applicable

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 29 NBN
2 Nijmegen Breakage Syndrome 29

Anatomical Context for Nijmegen Breakage Syndrome

MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

41
Kidney, Testes, T Cells, Brain, Liver, Heart, Lung

Publications for Nijmegen Breakage Syndrome

Articles related to Nijmegen Breakage Syndrome:

(show top 50) (show all 213)
# Title Authors Year
1
Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence. ( 29728794 )
2018
2
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome. ( 29445421 )
2018
3
Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas. ( 30209074 )
2018
4
Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants. ( 28790359 )
2017
5
Contribution of Double-strand Break Repair Gene Nijmegen Breakage Syndrome 1 Genotypes, Gender Difference and Smoking Status to Taiwanese Lung Cancer. ( 28476809 )
2017
6
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
7
Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome. ( 29456787 )
2017
8
Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients. ( 27545893 )
2016
9
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
10
Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence. ( 28000062 )
2016
11
Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. ( 26826318 )
2016
12
T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome. ( 27785413 )
2016
13
Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome. ( 25523867 )
2015
14
Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application. ( 26265251 )
2015
15
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). ( 25677497 )
2015
16
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
17
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. ( 26271390 )
2015
18
Generation of iPSC lines from a Nijmegen Breakage Syndrome patient. ( 26987925 )
2015
19
The role of nibrin in doxorubicin-induced apoptosis and cell senescence in Nijmegen Breakage Syndrome patients lymphocytes. ( 25119968 )
2014
20
Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome. ( 24619942 )
2014
21
Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line. ( 24928521 )
2014
22
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
23
An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma. ( 24428841 )
2014
24
Radiation-induced telomere length variations in normal and in Nijmegen Breakage Syndrome cells. ( 24168161 )
2014
25
Nijmegen breakage syndrome fibroblasts expressing the C-terminal truncated NBN(p70) protein undergo p38/MK2-dependent premature senescence. ( 25214013 )
2014
26
Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide. ( 24834778 )
2014
27
Clinical significance of increased expression of Nijmegen breakage syndrome gene (NBS1) in human primary liver cancer. ( 26202506 )
2014
28
Mutation Inactivation of Nijmegen Breakage Syndrome Gene (NBS1) in Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma. ( 24349281 )
2013
29
Nijmegen breakage syndrome and chronic polyarthritis. ( 24044622 )
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
Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. ( 23765759 )
2013
32
Cutaneous sarcoid-like granulomas in a child known with nijmegen breakage syndrome. ( 23550270 )
2013
33
Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific. ( 23458873 )
2013
34
Nijmegen breakage syndrome (NBS). ( 22373003 )
2012
35
Haploinsufficiency of the Nijmegen breakage syndrome 1 gene increases mammary tumor latency and metastasis. ( 22576691 )
2012
36
Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome. ( 22533239 )
2012
37
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress. ( 22396666 )
2012
38
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. ( 22851427 )
2012
39
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. ( 22293976 )
2012
40
Astrocyte dysfunction associated with cerebellar attrition in a Nijmegen breakage syndrome animal model. ( 21279473 )
2011
41
Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis. ( 20924312 )
2011
42
Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia. ( 21557461 )
2011
43
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. ( 21227757 )
2011
44
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. ( 21923652 )
2011
45
Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome. ( 20609147 )
2010
46
Telomerase upregulation is a postcrisis event during senescence bypass and immortalization of two Nijmegen breakage syndrome T cell cultures. ( 20089118 )
2010
47
Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. ( 20167538 )
2010
48
High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. ( 20444919 )
2010
49
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. ( 20597108 )
2010
50
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. ( 20947454 )
2010

Variations for Nijmegen Breakage Syndrome

ClinVar genetic disease variations for Nijmegen Breakage Syndrome:

6 (show top 50) (show all 1624)
# Gene Variation Type Significance SNP ID Assembly Location
1 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
2 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic rs587776650 GRCh38 Chromosome 8, 89971214: 89971218
3 NBN NM_002485.4(NBN): c.835_838delCAGA (p.Gln279Profs) deletion Pathogenic rs864309668 GRCh38 Chromosome 8, 89970422: 89970425
4 NBN NM_002485.4(NBN): c.835_838delCAGA (p.Gln279Profs) deletion Pathogenic rs864309668 GRCh37 Chromosome 8, 90982650: 90982653
5 NBN NM_002485.4(NBN): c.842dupT (p.Leu281Phefs) duplication Pathogenic rs864309669 GRCh38 Chromosome 8, 89970418: 89970418
6 NBN NM_002485.4(NBN): c.842dupT (p.Leu281Phefs) duplication Pathogenic rs864309669 GRCh37 Chromosome 8, 90982646: 90982646
7 NBN NM_002485.4(NBN): c.976C> T (p.Gln326Ter) single nucleotide variant Pathogenic rs121908973 GRCh37 Chromosome 8, 90976656: 90976656
8 NBN NM_002485.4(NBN): c.976C> T (p.Gln326Ter) single nucleotide variant Pathogenic rs121908973 GRCh38 Chromosome 8, 89964428: 89964428
9 NBN NM_002485.4(NBN): c.511A> G (p.Ile171Val) single nucleotide variant risk factor rs61754966 GRCh37 Chromosome 8, 90990521: 90990521
10 NBN NM_002485.4(NBN): c.511A> G (p.Ile171Val) single nucleotide variant risk factor rs61754966 GRCh38 Chromosome 8, 89978293: 89978293
11 NBN NM_002485.4(NBN): c.1089C> A (p.Tyr363Ter) single nucleotide variant Pathogenic rs121908974 GRCh37 Chromosome 8, 90970988: 90970988
12 NBN NM_002485.4(NBN): c.1089C> A (p.Tyr363Ter) single nucleotide variant Pathogenic rs121908974 GRCh38 Chromosome 8, 89958760: 89958760
13 NBN NM_002485.4(NBN): c.643C> T (p.Arg215Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs34767364 GRCh37 Chromosome 8, 90983460: 90983460
14 NBN NM_002485.4(NBN): c.643C> T (p.Arg215Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs34767364 GRCh38 Chromosome 8, 89971232: 89971232
15 NBN NM_002485.4(NBN): c.741_742dupGG (p.Glu248Glyfs) duplication Pathogenic/Likely pathogenic rs864309670 GRCh37 Chromosome 8, 90982746: 90982747
16 NBN NM_002485.4(NBN): c.741_742dupGG (p.Glu248Glyfs) duplication Pathogenic/Likely pathogenic rs864309670 GRCh38 Chromosome 8, 89970518: 89970519
17 NBN NM_002485.4(NBN): c.190C> T (p.Pro64Ser) single nucleotide variant Uncertain significance rs267602038 GRCh37 Chromosome 8, 90993733: 90993733
18 NBN NM_002485.4(NBN): c.190C> T (p.Pro64Ser) single nucleotide variant Uncertain significance rs267602038 GRCh38 Chromosome 8, 89981505: 89981505
19 NBN NM_002485.4(NBN): c.190C> T (p.Pro64Ser) single nucleotide variant Uncertain significance rs267602038 NCBI36 Chromosome 8, 91062909: 91062909
20 NBN NM_002485.4(NBN): c.*401C> G single nucleotide variant Uncertain significance rs104895030 GRCh37 Chromosome 8, 90947409: 90947409
21 NBN NM_002485.4(NBN): c.*401C> G single nucleotide variant Uncertain significance rs104895030 GRCh38 Chromosome 8, 89935181: 89935181
22 NBN NM_002485.4(NBN): c.*401C> G single nucleotide variant Uncertain significance rs104895030 NCBI36 Chromosome 8, 91016585: 91016585
23 NBN NM_002485.4(NBN): c.1262T> C (p.Leu421Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs104895032 GRCh37 Chromosome 8, 90967646: 90967646
24 NBN NM_002485.4(NBN): c.1262T> C (p.Leu421Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs104895032 GRCh38 Chromosome 8, 89955418: 89955418
25 NBN NM_002485.4(NBN): c.1262T> C (p.Leu421Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs104895032 NCBI36 Chromosome 8, 91036822: 91036822
26 NBN NM_002485.4(NBN): c.1202C> G (p.Pro401Arg) single nucleotide variant Uncertain significance rs104895033 GRCh37 Chromosome 8, 90967706: 90967706
27 NBN NM_002485.4(NBN): c.1202C> G (p.Pro401Arg) single nucleotide variant Uncertain significance rs104895033 GRCh38 Chromosome 8, 89955478: 89955478
28 NBN NM_002485.4(NBN): c.1202C> G (p.Pro401Arg) single nucleotide variant Uncertain significance rs104895033 NCBI36 Chromosome 8, 91036882: 91036882
29 NBN NM_002485.4(NBN): c.628G> T (p.Val210Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs61754796 GRCh37 Chromosome 8, 90983475: 90983475
30 NBN NM_002485.4(NBN): c.628G> T (p.Val210Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs61754796 GRCh38 Chromosome 8, 89971247: 89971247
31 NBN NM_002485.4(NBN): c.628G> T (p.Val210Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs61754796 NCBI36 Chromosome 8, 91052651: 91052651
32 NBN NM_002485.4(NBN): c.172-529G> A single nucleotide variant Likely benign rs104895039 GRCh37 Chromosome 8, 90994280: 90994280
33 NBN NM_002485.4(NBN): c.172-529G> A single nucleotide variant Likely benign rs104895039 GRCh38 Chromosome 8, 89982052: 89982052
34 NBN NM_002485.4(NBN): c.172-529G> A single nucleotide variant Likely benign rs104895039 NCBI36 Chromosome 8, 91063456: 91063456
35 NBN NM_002485.4(NBN): c.1034G> T (p.Gly345Val) single nucleotide variant Uncertain significance rs587780089 GRCh37 Chromosome 8, 90971043: 90971043
36 NBN NM_002485.4(NBN): c.1034G> T (p.Gly345Val) single nucleotide variant Uncertain significance rs587780089 GRCh38 Chromosome 8, 89958815: 89958815
37 NBN NM_002485.4(NBN): c.1035C> T (p.Gly345=) single nucleotide variant Benign/Likely benign rs146605798 GRCh37 Chromosome 8, 90971042: 90971042
38 NBN NM_002485.4(NBN): c.1035C> T (p.Gly345=) single nucleotide variant Benign/Likely benign rs146605798 GRCh38 Chromosome 8, 89958814: 89958814
39 NBN NM_002485.4(NBN): c.1036G> A (p.Val346Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200297914 GRCh37 Chromosome 8, 90971041: 90971041
40 NBN NM_002485.4(NBN): c.1036G> A (p.Val346Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200297914 GRCh38 Chromosome 8, 89958813: 89958813
41 NBN NM_002485.4(NBN): c.1091T> C (p.Val364Ala) single nucleotide variant Uncertain significance rs370229163 GRCh37 Chromosome 8, 90970986: 90970986
42 NBN NM_002485.4(NBN): c.1091T> C (p.Val364Ala) single nucleotide variant Uncertain significance rs370229163 GRCh38 Chromosome 8, 89958758: 89958758
43 NBN NM_002485.4(NBN): c.1222A> G (p.Lys408Glu) single nucleotide variant Benign/Likely benign rs34120922 GRCh37 Chromosome 8, 90967686: 90967686
44 NBN NM_002485.4(NBN): c.1222A> G (p.Lys408Glu) single nucleotide variant Benign/Likely benign rs34120922 GRCh38 Chromosome 8, 89955458: 89955458
45 NBN NM_002485.4(NBN): c.1238A> G (p.Asn413Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs529340553 GRCh37 Chromosome 8, 90967670: 90967670
46 NBN NM_002485.4(NBN): c.1238A> G (p.Asn413Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs529340553 GRCh38 Chromosome 8, 89955442: 89955442
47 NBN NM_002485.4(NBN): c.1317A> G (p.Ile439Met) single nucleotide variant Likely benign rs28538230 GRCh37 Chromosome 8, 90967591: 90967591
48 NBN NM_002485.4(NBN): c.1317A> G (p.Ile439Met) single nucleotide variant Likely benign rs28538230 GRCh38 Chromosome 8, 89955363: 89955363
49 NBN NM_002485.4(NBN): c.1667T> A (p.Val556Glu) single nucleotide variant Uncertain significance rs558023830 GRCh37 Chromosome 8, 90965650: 90965650
50 NBN NM_002485.4(NBN): c.1667T> A (p.Val556Glu) single nucleotide variant Uncertain significance rs558023830 GRCh38 Chromosome 8, 89953422: 89953422

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 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
2
Show member pathways
13.43 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
3
Show member pathways
13.18 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
4
Show member pathways
13.08 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
12.77 ATM BRCA1 CHEK2 LIG4 MRE11 NBN
8
Show member pathways
12.64 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
9
Show member pathways
12.56 ATM BRCA1 H2AFX MRE11 NBN RAD50
10
Show member pathways
12.52 BRCA1 MDC1 TP53 WRN
11 12.49 ATM BRCA1 CHEK2 H2AFX LIG4 MRE11
12
Show member pathways
12.47 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
13
Show member pathways
12.44 ATM H2AFX MRE11 NBN RAD50 TP53
14
Show member pathways
12.39 ATM BRCA1 MRE11 NBN RAD50 WRN
15
Show member pathways
12.32 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
16 12.27 ATM CHEK2 MRE11 NBN RAD50 TP53
17 12.25 ATM BRCA1 CHEK2 MRE11 RAD50 TP53
18 12.23 ATM CHEK2 TP53
19
Show member pathways
12.23 ATM BRCA1 CHEK2 TP53
20
Show member pathways
12.23 ATM BRCA1 MRE11 NBN RAD50 WRN
21
Show member pathways
11.94 ATM BRCA1 CHEK2 MRE11 NBN RAD50
22
Show member pathways
11.89 MRE11 NBN RAD50
23 11.82 ATM MRE11 NBN RAD50 WRN
24 11.75 ATM BRCA1 CHEK2 TP53
25
Show member pathways
11.75 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
26 11.72 ATM BRCA1 TP53
27
Show member pathways
11.71 ATM CHEK2 TP53
28 11.66 ATM BRCA1 CHEK2 MRE11 RAD50 TP53
29 11.63 ATM BRCA1 CHEK2 MDC1 NBN TP53
30 11.61 ATM CHEK2 TP53
31 11.54 ATM H2AFX TP53
32
Show member pathways
11.49 ATM CHEK2 TP53
33 11.4 ATM BRCA1 MRE11 NBN RAD50 TP53
34 11.33 ATM BRCA1 TP53
35 11.26 BRCA1 LIG4 MRE11 NBN RAD50 WRN
36 11.21 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
37 11.18 BRCA1 TP53
38
Show member pathways
11.18 MRE11 NBN RAD50
39 11.18 ATM CHEK2 H2AFX
40
Show member pathways
11.1 ATM MRE11 NBN RAD50
41 11.09 ATM BRCA1 TP53
42
Show member pathways
11.03 ATM TP53
43 10.83 ATM CHEK2 H2AFX MDC1 MRE11 NBN
44 10.37 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 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 9.72 ATM LIG4 MRE11 NBN RAD50
4 PML body GO:0016605 9.71 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 replication fork GO:0005657 9.61 H2AFX NBN WRN
8 Mre11 complex GO:0030870 9.54 MRE11 NBN RAD50
9 condensed chromosome GO:0000793 9.49 BRCA1 LIG4
10 site of double-strand break GO:0035861 9.35 H2AFX MRE11 NBN RAD50 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 51)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.99 H2AFX MRE11 RAD50 TP53
2 cell proliferation GO:0008283 9.97 LIG4 MRE11 NBN TP53
3 regulation of apoptotic process GO:0042981 9.95 ATM BRCA1 TP53 WRN
4 DNA recombination GO:0006310 9.95 BRCA1 H2AFX LIG4 MRE11 RAD50 WRN
5 meiotic cell cycle GO:0051321 9.91 H2AFX MRE11 NBN RAD50
6 double-strand break repair via homologous recombination GO:0000724 9.91 BRCA1 H2AFX MRE11 NBN RAD50 WRN
7 DNA replication GO:0006260 9.91 ATM BRCA1 LIG4 MRE11 NBN RAD50
8 telomere maintenance GO:0000723 9.89 ATM MRE11 NBN RAD50 WRN
9 cell cycle arrest GO:0007050 9.86 ATM NBN TP53
10 DNA duplex unwinding GO:0032508 9.86 MRE11 NBN RAD50 WRN
11 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.85 MRE11 RAD50 WRN
12 response to ionizing radiation GO:0010212 9.85 ATM BRCA1 H2AFX LIG4
13 cellular response to gamma radiation GO:0071480 9.85 ATM CHEK2 H2AFX TP53 WRN
14 DNA repair GO:0006281 9.85 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
15 regulation of signal transduction by p53 class mediator GO:1901796 9.83 ATM CHEK2 TP53
16 DNA damage checkpoint GO:0000077 9.83 ATM CHEK2 H2AFX NBN
17 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.81 ATM CHEK2 TP53
18 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.8 ATM BRCA1 CHEK2
19 base-excision repair GO:0006284 9.8 MRE11 TP53 WRN
20 reciprocal meiotic recombination GO:0007131 9.79 ATM MRE11 RAD50
21 response to gamma radiation GO:0010332 9.79 CHEK2 LIG4 TP53
22 positive regulation of protein autophosphorylation GO:0031954 9.77 MRE11 NBN RAD50
23 positive regulation of kinase activity GO:0033674 9.77 MRE11 NBN RAD50
24 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.76 BRCA1 CHEK2 TP53
25 replicative senescence GO:0090399 9.75 ATM CHEK2 TP53
26 positive regulation of telomere maintenance GO:0032206 9.74 MRE11 NBN RAD50
27 DNA double-strand break processing GO:0000729 9.72 ATM BRCA1 MRE11 NBN RAD50
28 intrinsic apoptotic signaling pathway GO:0097193 9.71 NBN TP53
29 positive regulation of DNA repair GO:0045739 9.71 BRCA1 H2AFX
30 chromosome organization GO:0051276 9.71 LIG4 MRE11
31 negative regulation of telomere capping GO:1904354 9.71 ATM NBN RAD50
32 cell aging GO:0007569 9.7 TP53 WRN
33 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.7 CHEK2 TP53
34 positive regulation of cell cycle arrest GO:0071158 9.7 BRCA1 TP53
35 telomere capping GO:0016233 9.7 NBN RAD50
36 telomere maintenance via telomerase GO:0007004 9.69 MRE11 RAD50
37 mitotic G2 DNA damage checkpoint GO:0007095 9.69 MRE11 NBN
38 telomeric 3' overhang formation GO:0031860 9.69 MRE11 NBN RAD50
39 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.68 NBN TP53
40 isotype switching GO:0045190 9.68 LIG4 NBN
41 determination of adult lifespan GO:0008340 9.67 TP53 WRN
42 intra-S DNA damage checkpoint GO:0031573 9.67 MDC1 MRE11
43 signal transduction in response to DNA damage GO:0042770 9.66 CHEK2 NBN
44 t-circle formation GO:0090656 9.66 NBN WRN
45 DNA damage induced protein phosphorylation GO:0006975 9.65 ATM CHEK2
46 replicative cell aging GO:0001302 9.64 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 10.06 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.95 ATM CHEK2 LIG4 RAD50 TP53 WRN
2 identical protein binding GO:0042802 9.92 BRCA1 CHEK2 MDC1 MRE11 TP53
3 nucleotide binding GO:0000166 9.81 ATM CHEK2 LIG4 RAD50
4 DNA binding GO:0003677 9.76 ATM BRCA1 H2AFX LIG4 MRE11 RAD50
5 protein C-terminus binding GO:0008022 9.71 LIG4 MDC1 MRE11
6 protein N-terminus binding GO:0047485 9.63 ATM NBN TP53
7 double-stranded telomeric DNA binding GO:0003691 9.43 MRE11 RAD50
8 damaged DNA binding GO:0003684 9.43 BRCA1 H2AFX NBN
9 G-quadruplex DNA binding GO:0051880 9.4 RAD50 WRN
10 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.37 MRE11 RAD50
11 single-stranded telomeric DNA binding GO:0043047 9.32 MRE11 RAD50
12 3'-5' exonuclease activity GO:0008408 9.13 MRE11 RAD50 WRN
13 ATP-dependent DNA helicase activity GO:0004003 8.92 MRE11 NBN RAD50 WRN
14 protein binding GO:0005515 10.24 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1

Sources for Nijmegen Breakage Syndrome

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11 DGIdb
17 ExPASy
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