NBS
MCID: NJM001
MIFTS: 69

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 58 12 77 25 54 26 60 76 30 13 56 45 15 41 74
Berlin Breakage Syndrome 12 77 54 26 60
Microcephaly, Normal Intelligence and Immunodeficiency 12 26 30 6
Nbs 58 60 76
Ataxia-Telangiectasia Variant V1 58 54
Seemanova Syndrome 12 26
Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies 58
Microcephaly with Normal Intelligence Immunodeficiency and Lymphoreticular Malignancies 54
Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence 58
Nonsyndromal Microcephaly Autosomal Recessive with Normal Intelligence 54
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome 60
Immunodeficiency, Microcephaly, and Chromosomal Instability 58
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome 60
Microcephaly Immunodeficiency Lymphoreticuloma 54
Ataxia-Telangiectasia Variant V1; at-V1 58
Ataxia Telangiectasia Variant V1 77
Ataxia-Telangiectasia, Variant 1 60
Ataxia-Telangiectasia Variant 1 26
Seemanova Syndrome Type 2 60
Seemanova Syndrome Ii 58
Seemanova Syndrome 2 54
at-V1 58
at V1 60

Characteristics:

Orphanet epidemiological data:

60
nijmegen breakage syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
nijmegen breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nijmegen Breakage Syndrome

NIH Rare Diseases : 54 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 breast-ovarian cancer, familial 1. 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 Ranibizumab and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and testes, and related phenotypes are short neck and macrotia

Genetics Home Reference : 26 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 : 58 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 : 76 Nijmegen breakage syndrome: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.

Wikipedia : 77 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 143)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome-like disorder 34.9 MRE11 RAD50
2 breast-ovarian cancer, familial 1 31.2 BRCA1 NBN
3 lymphoma, non-hodgkin, familial 30.3 ATM NBN TP53
4 lig4 syndrome 30.2 ATM LIG4 NBN
5 t-cell prolymphocytic leukemia 30.0 ATM CHEK2
6 ataxia-telangiectasia 29.5 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
7 fanconi anemia, complementation group a 28.7 ATM BRCA1 H2AFX LIG4 MRE11 NBN
8 neuroblastoma 1 12.0
9 nicolaides-baraitser syndrome 11.9
10 duarte variant galactosemia 11.3
11 telangiectasis 10.7
12 lymphoma 10.6
13 leukemia 10.6
14 vitiligo-associated multiple autoimmune disease susceptibility 1 10.6
15 intraocular pressure quantitative trait locus 10.5
16 breast cancer 10.4
17 lymphocytic leukemia 10.4
18 microcephaly 10.4
19 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.4
20 adenocarcinoma 10.3
21 lymphoma, hodgkin, classic 10.3
22 leukemia, acute lymphoblastic 10.3
23 acute lymphoblastic leukemia, childhood 10.3
24 suppression of tumorigenicity 12 10.3
25 ataxia-telangiectasia-like disorder 1 10.3 MRE11 NBN
26 psoriasis 10.3
27 cerebellar degeneration 10.2 ATM MRE11
28 hepatocellular carcinoma 10.2
29 medulloblastoma 10.2
30 ataxia and polyneuropathy, adult-onset 10.2
31 aplastic anemia 10.2
32 cll/sll 10.2 ATM TP53
33 myxosarcoma 10.2 ATM TP53
34 richter's syndrome 10.2 ATM TP53
35 uterine corpus serous adenocarcinoma 10.2 BRCA1 TP53
36 papillary serous adenocarcinoma 10.2 BRCA1 TP53
37 glycogen-rich clear cell breast carcinoma 10.2 BRCA1 TP53
38 li-fraumeni syndrome 2 10.2 CHEK2 TP53
39 blood group, colton system 10.2
40 wilms tumor 1 10.2
41 psoriasis 7 10.2
42 psoriasis 11 10.2
43 psoriasis 13 10.2
44 uterine corpus cancer 10.1 BRCA1 TP53
45 optic nerve neoplasm 10.1 H2AFX TP53
46 clivus chordoma 10.1 ATM CHEK2
47 primary peritoneal carcinoma 10.1 BRCA1 TP53
48 retinoblastoma 10.1
49 primary orthostatic tremor 10.1
50 mutagen sensitivity 10.1 BRCA1 TP53

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



Diseases related to Nijmegen Breakage Syndrome

Symptoms & Phenotypes for Nijmegen Breakage Syndrome

Human phenotypes related to Nijmegen Breakage Syndrome:

60 33 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
3 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
4 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 retrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000278
7 hearing abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000364
8 attention deficit hyperactivity disorder 60 33 hallmark (90%) Very frequent (99-80%) HP:0007018
9 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873
10 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
11 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
12 abnormal hair quantity 60 33 hallmark (90%) Very frequent (99-80%) HP:0011362
13 abnormality of chromosome stability 60 33 hallmark (90%) Very frequent (99-80%) HP:0003220
14 mental deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0001268
15 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
16 anal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002023
17 deep philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002002
18 chronic diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002028
19 recurrent pneumonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0006532
20 low anterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0000294
21 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
22 sloping forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000340
23 prominent nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000448
24 anal stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002025
25 recurrent sinopulmonary infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0005425
26 autoimmune hemolytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001890
27 pollakisuria 60 33 frequent (33%) Frequent (79-30%) HP:0100515
28 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
29 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
30 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
31 abnormality of neuronal migration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002269
32 non-midline cleft lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0100335
33 respiratory failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002878
34 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
35 cutaneous photosensitivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000992
36 rhabdomyosarcoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002859
37 freckling 60 33 occasional (7.5%) Occasional (29-5%) HP:0001480
38 glioma 60 33 occasional (7.5%) Occasional (29-5%) HP:0009733
39 t-cell lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012190
40 b-cell lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012191
41 lymphoma 60 33 Occasional (29-5%) HP:0002665
42 intellectual disability 33 HP:0001249
43 recurrent respiratory infections 60 Very frequent (99-80%)
44 micrognathia 33 HP:0000347
45 hemolytic anemia 60 Very frequent (99-80%)
46 neoplasm 60 Frequent (79-30%)
47 sinusitis 33 HP:0000246
48 intrauterine growth retardation 33 HP:0001511
49 premature ovarian insufficiency 33 HP:0008209
50 abnormality of the eyelid 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# 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:

47 (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 136)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
5
protease inhibitors Phase 4
6 Autonomic Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
8 Angiogenesis Modulating Agents Phase 4
9 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
11 Antiemetics Phase 4,Phase 3
12 glucocorticoids Phase 4,Phase 2
13 Gastrointestinal Agents Phase 4,Phase 3
14 HIV Protease Inhibitors Phase 4
15 Antineoplastic Agents, Hormonal Phase 4,Phase 3
16 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1,Not Applicable
18 Dexamethasone 21-phosphate Phase 4
19 Angiogenesis Inhibitors Phase 4
20 BB 1101 Phase 4
21 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
22
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
23
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
24
Levetiracetam Approved, Investigational Phase 3 102767-28-2 441341
25
lanreotide Approved Phase 3 108736-35-2
26
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
27
Glycerol Approved, Investigational Phase 3 56-81-5 753
28
Peppermint oil Approved, Investigational Phase 3 8006-90-4
29
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
30
Peppermint Approved Phase 3
31
Ethanol Approved Phase 3 64-17-5 702
32
Terlipressin Approved, Investigational Phase 3 14636-12-5 72081
33
Norepinephrine Approved Phase 3 51-41-2 439260
34
Zoledronic Acid Approved Phase 3 118072-93-8 68740
35
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
36
Octreotide Approved, Investigational Phase 3 83150-76-9 6400441 383414
37 Nabiximols Investigational Phase 3 56575-23-6
38 Central Nervous System Depressants Phase 3
39 Anticonvulsants Phase 3
40 Neurotransmitter Agents Phase 3,Not Applicable
41 Sodium Channel Blockers Phase 3
42 Analgesics Phase 3,Phase 1
43 Analgesics, Non-Narcotic Phase 3,Phase 1
44 Nootropic Agents Phase 3
45 Tranquilizing Agents Phase 3
46 Diuretics, Potassium Sparing Phase 3
47 Cytochrome P-450 CYP3A Inducers Phase 3
48 Psychotropic Drugs Phase 3
49 Antimanic Agents Phase 3
50 GABA Agents Phase 3

Interventional clinical trials:

(show all 37)
# 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 Terlipressin Infusion Alone Vs Terlipressin With Noradrenaline Infusion In The Treatment of Hepatorenal Syndrome Type 1 Recruiting NCT03822091 Phase 3 Terlipressin;Terlipressin and Noradrenaline
9 Zoledronic Acid Compared to Percutaneous Treatment in Osteoid Osteoma Recruiting NCT02739555 Phase 3 Acide Zoledronique MEDAC
10 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
11 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
12 Dose Finding Study to Assess Octenidine Mouthwash Concentrations in Comparison to Placebo Completed NCT02138552 Phase 2 Octenidine dihydrochloride;Placebo
13 Safety and Immunogenicity of Two Doses of a Tetravalent Influenza Vaccine in Adults Aged 18 Years and Above Completed NCT00620815 Phase 2
14 A Study to Assess the Efficacy and Safety of Multiple Dose Levels of AZD7594 Administered Once Daily by Inhalation in Asthmatic Subjects 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)
15 Evaluation of (R)-Roscovitine Safety and Effects in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation Terminated NCT02649751 Phase 2 Roscovitine;Placebo
16 Iloprost for Bridging to Heart Transplantation in PH Withdrawn NCT02482402 Phase 2 Inhaled Iloprost;Placebo
17 Bioavailability, Pharmacokinetics and Tissue Distribution of R-flurbiprofen Capsules in Healthy Subjects Completed NCT02206854 Phase 1 R-flurbiprofen
18 Immunogenicity of a Combined Anti-pneumococcal Vaccine Schedule in Patients With ANCA-associated Vasculitis Unknown status NCT02463578
19 Sleep and Memory in Children Completed NCT02785328 Not Applicable
20 Genetic & Environmental Determinants Of Immune Phenotype Variance: Establishing A Path Towards Personalized Medicine Completed NCT01699893 Not Applicable
21 Effect of a Mixture of Probiotics on the Antigen Specific Antibody Response in a Influenza Vaccination Model of Healthy Adults Completed NCT01652066 Not Applicable
22 Milieu Intérieur Collection - Genetic & Environmental Determinants Of Immune Phenotype Variance Completed NCT03905993
23 Performance of the HBV ELISPOT in the Detection of the T Cellular Immune Response in Patients Infected by HBV or Cured Completed NCT02909023
24 The Effect of Pramipexole on Metabolic Network Activity Compared With Levodopa in Early Parkinson's Disease Completed NCT01470859 Not Applicable pramipexole;Sinemet CR
25 Study of the Effect of Testosterone Treatment on Metabolic Parameters and Urinary Symptoms in Bariatric Patients Completed NCT02248467
26 Cell Distribution in Induced Sputum in Patients With Asthma Completed NCT01543516
27 Efficacy of FLACS USFREE Compared to Traditional Surgery Using Ultrasound. Completed NCT03050008 Not Applicable
28 Treatment Adherence to Injectable Methotrexate in Rheumatoid Arthritis Completed NCT02897817
29 "Me and My Heart" Study Completed NCT02615704
30 Protocol TARC-ABPA Completed NCT01710930 Not Applicable
31 Incretin-mimetic Hypoglycemic Drugs and Severe Retinopathy Recruiting NCT02671864 Not Applicable
32 A Clinical Trial to Evaluate the Chronic Safety and Tolerance of Turmipure Gold™ in Healthy Subjects Recruiting NCT03945149 Not Applicable
33 Impulsivity in Tourette Syndrome : Behavioral and Neuroimaging Study Recruiting NCT02960698 Not Applicable
34 Concussion in Rugby Players: a Pilot Study of Neural Recovery Using fMRI Recruiting NCT02988609 Not Applicable
35 MRI Biomarkers in as Predictor of Clinical Endpoints in Pediatric Autoimmune Liver Disease Recruiting NCT03178630
36 Uncontrolled Lower Respiratory Symptoms in the WTC Survivor Program Active, not recruiting NCT02024204 Not Applicable Fluticasone propionate 230mcg for 3 Months;Current Treatment or no treatment;Salmeterol 21mcg for 3 Months
37 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 30 NBN
2 Nijmegen Breakage Syndrome 30

Anatomical Context for Nijmegen Breakage Syndrome

MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

42
Kidney, T Cells, Testes, B Cells, Prostate, Skeletal Muscle, Myeloid

Publications for Nijmegen Breakage Syndrome

Articles related to Nijmegen Breakage Syndrome:

(show top 50) (show all 214)
# Title Authors Year
1
Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation. ( 30616142 )
2019
2
Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas. ( 30209074 )
2018
3
Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence. ( 29728794 )
2018
4
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome. ( 29445421 )
2018
5
Non-Hodgkin Lymphoma Secondary to Hodgkin Lymphoma in an Adult Patient With Nijmegen Breakage Syndrome. ( 30887004 )
2018
6
Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants. ( 28790359 )
2017
7
Contribution of Double-strand Break Repair Gene Nijmegen Breakage Syndrome 1 Genotypes, Gender Difference and Smoking Status to Taiwanese Lung Cancer. ( 28476809 )
2017
8
Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence. ( 28000062 )
2017
9
Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome. ( 29456787 )
2017
10
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2017
11
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
12
Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. ( 26826318 )
2016
13
Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application. ( 26265251 )
2016
14
T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome. ( 27785413 )
2016
15
Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients. ( 27545893 )
2016
16
Generation of iPSC lines from a Nijmegen Breakage Syndrome patient. ( 26987925 )
2015
17
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. ( 26271390 )
2015
18
Nijmegen breakage syndrome protein 1 (NBS1) modulates hypoxia inducible factor-1α (HIF-1α) stability and promotes in vitro migration and invasion under ionizing radiation. ( 25959252 )
2015
19
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). ( 25677497 )
2015
20
Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome. ( 25523867 )
2015
21
Nijmegen breakage syndrome fibroblasts expressing the C-terminal truncated NBN(p70) protein undergo p38/MK2-dependent premature senescence. ( 25214013 )
2015
22
Clinical significance of increased expression of Nijmegen breakage syndrome gene (NBS1) in human primary liver cancer. ( 26202506 )
2014
23
The role of nibrin in doxorubicin-induced apoptosis and cell senescence in Nijmegen Breakage Syndrome patients lymphocytes. ( 25119968 )
2014
24
Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line. ( 24928521 )
2014
25
Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide. ( 24834778 )
2014
26
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
27
An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma. ( 24428841 )
2014
28
Radiation-induced telomere length variations in normal and in Nijmegen Breakage Syndrome cells. ( 24168161 )
2014
29
Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome. ( 24619942 )
2014
30
Nijmegen breakage syndrome and chronic polyarthritis. ( 24044622 )
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
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
35
Mutation inactivation of Nijmegen breakage syndrome gene (NBS1) in hepatocellular carcinoma and intrahepatic cholangiocarcinoma. ( 24349281 )
2013
36
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. ( 22851427 )
2012
37
Haploinsufficiency of the Nijmegen breakage syndrome 1 gene increases mammary tumor latency and metastasis. ( 22576691 )
2012
38
Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome. ( 22533239 )
2012
39
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress. ( 22396666 )
2012
40
Nijmegen breakage syndrome (NBS). ( 22373003 )
2012
41
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition. ( 22293976 )
2012
42
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. ( 21923652 )
2011
43
Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia. ( 21557461 )
2011
44
Astrocyte dysfunction associated with cerebellar attrition in a Nijmegen breakage syndrome animal model. ( 21279473 )
2011
45
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. ( 21227757 )
2011
46
Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis. ( 20924312 )
2011
47
Nijmegen breakage syndrome protein (NBN) causes resistance to methylating anticancer drugs such as temozolomide. ( 20729302 )
2010
48
Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome. ( 20609147 )
2010
49
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. ( 20597108 )
2010
50
High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. ( 20444919 )
2010

Variations for Nijmegen Breakage Syndrome

ClinVar genetic disease variations for Nijmegen Breakage Syndrome:

6 (show top 50) (show all 1630)
# Gene Variation Type Significance SNP ID Assembly Location
1 NBN NM_002485.4(NBN): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767215758 GRCh38 Chromosome 8, 89958819: 89958819
2 NBN NM_002485.4(NBN): c.2134_2136delCAT (p.His712del) deletion Uncertain significance rs786204096 GRCh38 Chromosome 8, 89943301: 89943303
3 NBN NM_002485.4(NBN): c.2134_2136delCAT (p.His712del) deletion Uncertain significance rs786204096 GRCh37 Chromosome 8, 90955529: 90955531
4 NBN NM_002485.4(NBN): c.2165G> A (p.Trp722Ter) single nucleotide variant Pathogenic rs786204181 GRCh38 Chromosome 8, 89943272: 89943272
5 NBN NM_002485.4(NBN): c.2165G> A (p.Trp722Ter) single nucleotide variant Pathogenic rs786204181 GRCh37 Chromosome 8, 90955500: 90955500
6 NBN NM_002485.4(NBN): c.37+1G> A single nucleotide variant Likely pathogenic rs574673404 GRCh38 Chromosome 8, 89984524: 89984524
7 NBN NM_002485.4(NBN): c.37+1G> A single nucleotide variant Likely pathogenic rs574673404 GRCh37 Chromosome 8, 90996752: 90996752
8 NBN NM_002485.4(NBN): c.102G> A (p.Leu34=) single nucleotide variant Benign rs1063045 GRCh37 Chromosome 8, 90995019: 90995019
9 NBN NM_002485.4(NBN): c.102G> A (p.Leu34=) single nucleotide variant Benign rs1063045 GRCh38 Chromosome 8, 89982791: 89982791
10 NBN NM_002485.4(NBN): c.120G> T (p.Ser40=) single nucleotide variant Conflicting interpretations of pathogenicity rs774989816 GRCh37 Chromosome 8, 90995001: 90995001
11 NBN NM_002485.4(NBN): c.120G> T (p.Ser40=) single nucleotide variant Conflicting interpretations of pathogenicity rs774989816 GRCh38 Chromosome 8, 89982773: 89982773
12 NBN NM_002485.4(NBN): c.181_182delGA (p.Asp61Terfs) deletion Pathogenic/Likely pathogenic rs768378152 GRCh38 Chromosome 8, 89981513: 89981514
13 NBN NM_002485.4(NBN): c.181_182delGA (p.Asp61Terfs) deletion Pathogenic/Likely pathogenic rs768378152 GRCh37 Chromosome 8, 90993741: 90993742
14 NBN NM_002485.4(NBN): c.210_211delTA (p.Asp70Glufs) deletion Pathogenic/Likely pathogenic rs786202494 GRCh38 Chromosome 8, 89981484: 89981485
15 NBN NM_002485.4(NBN): c.210_211delTA (p.Asp70Glufs) deletion Pathogenic/Likely pathogenic rs786202494 GRCh37 Chromosome 8, 90993712: 90993713
16 NBN NM_002485.4(NBN): c.260T> C (p.Phe87Ser) single nucleotide variant Uncertain significance rs786203573 GRCh38 Chromosome 8, 89981435: 89981435
17 NBN NM_002485.4(NBN): c.260T> C (p.Phe87Ser) single nucleotide variant Uncertain significance rs786203573 GRCh37 Chromosome 8, 90993663: 90993663
18 NBN NM_002485.4(NBN): c.266G> C (p.Arg89Pro) single nucleotide variant Uncertain significance rs747315554 GRCh38 Chromosome 8, 89981429: 89981429
19 NBN NM_002485.4(NBN): c.266G> C (p.Arg89Pro) single nucleotide variant Uncertain significance rs747315554 GRCh37 Chromosome 8, 90993657: 90993657
20 NBN NM_002485.4(NBN): c.301G> A (p.Val101Met) single nucleotide variant Uncertain significance rs786202139 GRCh38 Chromosome 8, 89981394: 89981394
21 NBN NM_002485.4(NBN): c.301G> A (p.Val101Met) single nucleotide variant Uncertain significance rs786202139 GRCh37 Chromosome 8, 90993622: 90993622
22 NBN NM_002485.4(NBN): c.302T> C (p.Val101Ala) single nucleotide variant Uncertain significance rs185493105 GRCh38 Chromosome 8, 89981393: 89981393
23 NBN NM_002485.4(NBN): c.302T> C (p.Val101Ala) single nucleotide variant Uncertain significance rs185493105 GRCh37 Chromosome 8, 90993621: 90993621
24 NBN NM_002485.4(NBN): c.333G> A (p.Glu111=) single nucleotide variant Likely benign rs376455714 GRCh37 Chromosome 8, 90993109: 90993109
25 NBN NM_002485.4(NBN): c.333G> A (p.Glu111=) single nucleotide variant Likely benign rs376455714 GRCh38 Chromosome 8, 89980881: 89980881
26 NBN NM_002485.4(NBN): c.393T> G (p.Ala131=) single nucleotide variant Likely benign rs372061224 GRCh37 Chromosome 8, 90993049: 90993049
27 NBN NM_002485.4(NBN): c.38-7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs863224392 GRCh37 Chromosome 8, 90995090: 90995090
28 NBN NM_002485.4(NBN): c.38-7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs863224392 GRCh38 Chromosome 8, 89982862: 89982862
29 NBN NM_002485.4(NBN): c.37+10G> C single nucleotide variant Conflicting interpretations of pathogenicity rs369408590 GRCh37 Chromosome 8, 90996743: 90996743
30 NBN NM_002485.4(NBN): c.393T> G (p.Ala131=) single nucleotide variant Likely benign rs372061224 GRCh38 Chromosome 8, 89980821: 89980821
31 NBN NM_002485.4(NBN): c.415A> G (p.Thr139Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs543852763 GRCh38 Chromosome 8, 89980799: 89980799
32 NBN NM_002485.4(NBN): c.415A> G (p.Thr139Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs543852763 GRCh37 Chromosome 8, 90993027: 90993027
33 NBN NM_002485.4(NBN): c.426T> C (p.Asn142=) single nucleotide variant Benign/Likely benign rs143070291 GRCh38 Chromosome 8, 89980788: 89980788
34 NBN NM_002485.4(NBN): c.426T> C (p.Asn142=) single nucleotide variant Benign/Likely benign rs143070291 GRCh37 Chromosome 8, 90993016: 90993016
35 NBN NM_002485.4(NBN): c.459A> C (p.Val153=) single nucleotide variant Likely benign rs566630862 GRCh38 Chromosome 8, 89980755: 89980755
36 NBN NM_002485.4(NBN): c.459A> C (p.Val153=) single nucleotide variant Likely benign rs566630862 GRCh37 Chromosome 8, 90992983: 90992983
37 NBN NM_002485.4(NBN): c.459A> G (p.Val153=) single nucleotide variant Likely benign rs566630862 GRCh38 Chromosome 8, 89980755: 89980755
38 NBN NM_002485.4(NBN): c.459A> G (p.Val153=) single nucleotide variant Likely benign rs566630862 GRCh37 Chromosome 8, 90992983: 90992983
39 NBN NM_002485.4(NBN): c.480+3A> G single nucleotide variant Uncertain significance rs756817252 GRCh38 Chromosome 8, 89980731: 89980731
40 NBN NM_002485.4(NBN): c.480+3A> G single nucleotide variant Uncertain significance rs756817252 GRCh37 Chromosome 8, 90992959: 90992959
41 NBN NM_002485.4(NBN): c.483A> G (p.Thr161=) single nucleotide variant Likely benign rs758276775 GRCh38 Chromosome 8, 89978321: 89978321
42 NBN NM_002485.4(NBN): c.483A> G (p.Thr161=) single nucleotide variant Likely benign rs758276775 GRCh37 Chromosome 8, 90990549: 90990549
43 NBN NM_002485.4(NBN): c.506G> A (p.Arg169His) single nucleotide variant Uncertain significance rs776134250 GRCh38 Chromosome 8, 89978298: 89978298
44 NBN NM_002485.4(NBN): c.506G> A (p.Arg169His) single nucleotide variant Uncertain significance rs776134250 GRCh37 Chromosome 8, 90990526: 90990526
45 NBN NM_002485.4(NBN): c.588T> C (p.Phe196=) single nucleotide variant Likely benign rs745821999 GRCh38 Chromosome 8, 89971287: 89971287
46 NBN NM_002485.4(NBN): c.588T> C (p.Phe196=) single nucleotide variant Likely benign rs745821999 GRCh37 Chromosome 8, 90983515: 90983515
47 NBN NM_002485.4(NBN): c.653G> T (p.Arg218Ile) single nucleotide variant Uncertain significance rs786202250 GRCh38 Chromosome 8, 89971222: 89971222
48 NBN NM_002485.4(NBN): c.653G> T (p.Arg218Ile) single nucleotide variant Uncertain significance rs786202250 GRCh37 Chromosome 8, 90983450: 90983450
49 NBN NM_002485.4(NBN): c.1747C> T (p.Gln583Ter) single nucleotide variant Pathogenic/Likely pathogenic rs864622143 GRCh37 Chromosome 8, 90965570: 90965570
50 NBN NM_002485.4(NBN): c.1747C> T (p.Gln583Ter) single nucleotide variant Pathogenic/Likely pathogenic rs864622143 GRCh38 Chromosome 8, 89953342: 89953342

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 reciprocal meiotic recombination GO:0007131 9.79 ATM MRE11 RAD50
20 response to gamma radiation GO:0010332 9.79 CHEK2 LIG4 TP53
21 positive regulation of protein autophosphorylation GO:0031954 9.77 MRE11 NBN RAD50
22 positive regulation of kinase activity GO:0033674 9.77 MRE11 NBN RAD50
23 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.76 BRCA1 CHEK2 TP53
24 replicative senescence GO:0090399 9.75 ATM CHEK2 TP53
25 positive regulation of telomere maintenance GO:0032206 9.74 MRE11 NBN RAD50
26 DNA double-strand break processing GO:0000729 9.72 ATM BRCA1 MRE11 NBN RAD50
27 intrinsic apoptotic signaling pathway GO:0097193 9.71 NBN TP53
28 positive regulation of DNA repair GO:0045739 9.71 BRCA1 H2AFX
29 chromosome organization GO:0051276 9.71 LIG4 MRE11
30 negative regulation of telomere capping GO:1904354 9.71 ATM NBN RAD50
31 cell aging GO:0007569 9.7 TP53 WRN
32 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.7 CHEK2 TP53
33 positive regulation of cell cycle arrest GO:0071158 9.7 BRCA1 TP53
34 telomere capping GO:0016233 9.7 NBN RAD50
35 telomere maintenance via telomerase GO:0007004 9.69 MRE11 RAD50
36 mitotic G2 DNA damage checkpoint GO:0007095 9.69 MRE11 NBN
37 telomeric 3' overhang formation GO:0031860 9.69 MRE11 NBN RAD50
38 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.68 NBN TP53
39 isotype switching GO:0045190 9.68 LIG4 NBN
40 determination of adult lifespan GO:0008340 9.67 TP53 WRN
41 intra-S DNA damage checkpoint GO:0031573 9.67 MDC1 MRE11
42 signal transduction in response to DNA damage GO:0042770 9.66 CHEK2 NBN
43 t-circle formation GO:0090656 9.66 NBN WRN
44 DNA damage induced protein phosphorylation GO:0006975 9.65 ATM CHEK2
45 replicative cell aging GO:0001302 9.64 CHEK2 WRN
46 regulation of mitotic recombination GO:0000019 9.63 MRE11 RAD50
47 base-excision repair GO:0006284 9.62 TP53 WRN
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 damaged DNA binding GO:0003684 9.43 BRCA1 H2AFX NBN
8 G-quadruplex DNA binding GO:0051880 9.4 RAD50 WRN
9 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.37 MRE11 RAD50
10 double-stranded telomeric DNA binding GO:0003691 9.13 RAD50
11 3'-5' exonuclease activity GO:0008408 9.13 MRE11 RAD50 WRN
12 single-stranded telomeric DNA binding GO:0043047 9.02 RAD50
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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