MCID: NJM001
MIFTS: 70

Nijmegen Breakage Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases, Blood diseases, Immune 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
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 lymphoma, non-hodgkin, familial. 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, t cells and testes, 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)

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 75)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome-like disorder 35.1 MRE11 RAD50
2 lymphoma, non-hodgkin, familial 29.9 ATM NBN TP53
3 t-cell prolymphocytic leukemia 29.6 ATM CHEK2
4 aging 29.3 CHEK2 TP53 WRN
5 fanconi anemia, complementation group a 27.7 ATM BRCA1 H2AFX LIG4 MRE11 NBN
6 ataxia-telangiectasia 27.7 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
7 neuroblastoma 11.8
8 nicolaides-baraitser syndrome 11.7
9 ataxia-telangiectasia-like disorder 1 10.6 MRE11 NBN
10 cerebellar degeneration 10.5 ATM MRE11
11 lymphoma 10.4
12 breast-ovarian cancer, familial 1 10.4 BRCA1 NBN
13 cll/sll 10.4 ATM TP53
14 leukemia 10.4
15 uterine corpus serous adenocarcinoma 10.4 BRCA1 TP53
16 richter's syndrome 10.4 ATM TP53
17 papillary serous adenocarcinoma 10.3 BRCA1 TP53
18 fallopian tube adenocarcinoma 10.3 BRCA1 TP53
19 li-fraumeni syndrome 2 10.3 CHEK2 TP53
20 breast cancer 10.3
21 lymphoblastic leukemia 10.3
22 glycogen-rich clear cell breast carcinoma 10.3 BRCA1 TP53
23 optic nerve neoplasm 10.3 H2AFX TP53
24 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3
25 microcephaly 10.3
26 medulloblastoma 10.2
27 leukemia, acute lymphoblastic 10.2
28 primary peritoneal carcinoma 10.2 BRCA1 TP53
29 artemis deficiency 10.2 H2AFX LIG4
30 cervix carcinoma 10.1 NBN TP53
31 mutagen sensitivity 10.1 BRCA1 TP53
32 prostate cancer 10.1
33 lymphoma, hodgkin, classic 10.1
34 prostatitis 10.1
35 pre-malignant neoplasm 10.1 BRCA1 TP53
36 fallopian tube carcinoma 10.0 BRCA1 TP53
37 synchronous bilateral breast carcinoma 10.0 ATM BRCA1 TP53
38 myxosarcoma 10.0 ATM BRCA1 TP53
39 lig4 syndrome 10.0 ATM LIG4 NBN
40 female breast cancer 10.0 ATM BRCA1 TP53
41 hepatocellular carcinoma 10.0
42 leukemia, acute monocytic 10.0
43 rheumatoid arthritis 10.0
44 bloom syndrome 10.0
45 lung cancer 10.0
46 schizencephaly 10.0
47 insulin-like growth factor i 10.0
48 intrauterine growth retardation with increased mitomycin c sensitivity 10.0
49 leukemia, acute myeloid 10.0
50 aplastic anemia 10.0

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 MDC1 ATM MRE11 BRCA1 NBN CHEK2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.92 MDC1 ATM MRE11 BRCA1 NBN CHEK2
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ATM MRE11 BRCA1 NBN CHEK2 RAD50
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 H2AFX LIG4 BRCA1 MDC1 CHEK2
2 endocrine/exocrine gland MP:0005379 10.16 ATM H2AFX LIG4 BRCA1 MDC1 CHEK2
3 hematopoietic system MP:0005397 10.14 ATM H2AFX LIG4 BRCA1 MDC1 CHEK2
4 growth/size/body region MP:0005378 10.09 ATM H2AFX LIG4 BRCA1 RAD50 MDC1
5 homeostasis/metabolism MP:0005376 10.07 CHEK2 ATM H2AFX LIG4 BRCA1 MDC1
6 immune system MP:0005387 10.06 ATM H2AFX LIG4 BRCA1 MDC1 CHEK2
7 mortality/aging MP:0010768 10 CHEK2 ATM H2AFX LIG4 BRCA1 MDC1
8 embryo MP:0005380 9.95 ATM BRCA1 RAD50 MRE11 TP53 NBN
9 neoplasm MP:0002006 9.85 ATM H2AFX LIG4 BRCA1 CHEK2 MRE11
10 nervous system MP:0003631 9.56 CHEK2 ATM LIG4 BRCA1 RAD50 MRE11
11 reproductive system MP:0005389 9.32 ATM H2AFX LIG4 BRCA1 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 122)
# 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
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
4 Angiogenesis Inhibitors Phase 4
5 Angiogenesis Modulating Agents Phase 4
6 Antiemetics Phase 4,Phase 3
7 Anti-Inflammatory Agents Phase 4,Phase 1,Not Applicable
8 Antineoplastic Agents, Hormonal Phase 4,Phase 3
9 Autonomic Agents Phase 4,Phase 3,Not Applicable
10 BB 1101 Phase 4
11 Dexamethasone 21-phosphate Phase 4
12 Dexamethasone acetate Phase 4 1177-87-3
13 Gastrointestinal Agents Phase 4,Phase 3
14 glucocorticoids Phase 4
15 HIV Protease Inhibitors Phase 4
16 Hormone Antagonists Phase 4,Not Applicable
17 Hormones Phase 4,Not Applicable
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Not Applicable
20 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
21
protease inhibitors Phase 4
22
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
23 Piracetam Approved, Investigational Phase 3 7491-74-9
24
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
25
Glycerol Approved, Investigational Phase 3 56-81-5 753
26
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
27
Ethanol Approved Phase 3 64-17-5 702
28
Peppermint oil Approved, Investigational Phase 3 8006-90-4
29
Zoledronic acid Approved Phase 3 118072-93-8 68740
30
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
31
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
32
Peppermint Approved, Nutraceutical Phase 3
33 Etiracetam Investigational Phase 3 33996-58-6
34 Analgesics Phase 3,Phase 1
35 Analgesics, Non-Narcotic Phase 3,Phase 1
36 Anticonvulsants Phase 3
37 Antimanic Agents Phase 3
38 Central Nervous System Depressants Phase 3
39 Cytochrome P-450 CYP3A Inducers Phase 3
40 GABA Agents Phase 3
41 Neuroprotective Agents Phase 3
42 Neurotransmitter Agents Phase 3,Not Applicable
43 Nootropic Agents Phase 3
44 Protective Agents Phase 3,Not Applicable
45 Psychotropic Drugs Phase 3
46 Tranquilizing Agents Phase 3
47 Anti-Infective Agents Phase 3,Phase 2
48 Anti-Infective Agents, Local Phase 3,Phase 2
49 Parasympatholytics Phase 3
50 Anesthetics Phase 3

Interventional clinical trials:

(show all 32)
# 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 Dermacyd in Odor Reducing. Completed NCT01158365 Phase 3 LACTIC ACID (Dermacid);Glycerine Vegetal Soap Granado Traditional
5 An Open Trial to Assess the Tolerability of AVANZ Phleum Pratense Immunotherapy Completed NCT01454531 Phase 2, Phase 3 AVANZ Phleum pratense
6 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
7 Zoledronic Acid Compared to Percutaneous Treatment in Osteoid Osteoma Recruiting NCT02739555 Phase 3 Acide Zoledronique MEDAC
8 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
9 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
10 Dose Finding Study to Assess Octenidine Mouthwash Concentrations in Comparison to Placebo Completed NCT02138552 Phase 2 Octenidine dihydrochloride;Placebo
11 Safety and Immunogenicity of Two Doses of a Tetravalent Influenza Vaccine in Adults Aged 18 Years and Above Completed NCT00620815 Phase 2
12 Evaluation of (R)-Roscovitine Safety and Effects in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation Recruiting NCT02649751 Phase 2 Roscovitine;Placebo
13 APRIL (AbatacePt in RA-ILD) Not yet recruiting NCT03084419 Phase 2 Abatacept
14 Iloprost for Bridging to Heart Transplantation in PH Withdrawn NCT02482402 Phase 2 Inhaled Iloprost;Placebo
15 Bioavailability, Pharmacokinetics and Tissue Distribution of R-flurbiprofen Capsules in Healthy Subjects Completed NCT02206854 Phase 1 R-flurbiprofen
16 Sleep and Memory in Children Unknown status NCT02785328 Not Applicable
17 Genetic & Environmental Determinants Of Immune Phenotype Variance: Establishing A Path Towards Personalized Medicine Completed NCT01699893 Not Applicable
18 Effect of a Mixture of Probiotics on the Antigen Specific Antibody Response in a Influenza Vaccination Model of Healthy Adults Completed NCT01652066 Not Applicable
19 Performance of the HBV ELISPOT in the Detection of the T Cellular Immune Response in Patients Infected by HBV or Cured Completed NCT02909023
20 The Effect of Pramipexole on Metabolic Network Activity Compared With Levodopa in Early Parkinson's Disease Completed NCT01470859 Not Applicable pramipexole;Sinemet CR
21 Cell Distribution in Induced Sputum in Patients With Asthma Completed NCT01543516
22 Efficacy of FLACS USFREE Compared to Traditional Surgery Using Ultrasound. Completed NCT03050008 Not Applicable
23 Treatment Adherence to Injectable Methotrexate in Rheumatoid Arthritis Completed NCT02897817
24 Protocol TARC-ABPA Completed NCT01710930 Not Applicable
25 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
26 Incretin-mimetic Hypoglycemic Drugs and Severe Retinopathy Recruiting NCT02671864 Not Applicable
27 Immunogenicity of a Combined Anti-pneumococcal Vaccine Schedule in Patients With ANCA-associated Vasculitis Recruiting NCT02463578
28 Impulsivity in Tourette Syndrome : Behavioral and Neuroimaging Study Recruiting NCT02960698 Not Applicable
29 Study of the Effect of Testosterone Treatment on Metabolic Parameters and Urinary Symptoms in Bariatric Patients Recruiting NCT02248467
30 MRI Biomarkers in as Predictor of Clinical Endpoints in Pediatric Autoimmune Liver Disease Recruiting NCT03178630
31 Concussion in Rugby Players: a Pilot Study of Neural Recovery Using fMRI Active, not recruiting NCT02988609 Not Applicable
32 "Me and My Heart" Study Active, not recruiting NCT02615704

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, T Cells, Testes, Liver, B Cells, Heart, Skeletal Muscle

Publications for Nijmegen Breakage Syndrome

Articles related to Nijmegen Breakage Syndrome:

(show top 50) (show all 203)
# 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 fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants. ( 28790359 )
2017
4
Contribution of Double-strand Break Repair Gene Nijmegen Breakage Syndrome 1 Genotypes, Gender Difference and Smoking Status to Taiwanese Lung Cancer. ( 28476809 )
2017
5
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
6
Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome. ( 29456787 )
2017
7
Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients. ( 27545893 )
2016
8
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
9
Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence. ( 28000062 )
2016
10
Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. ( 26826318 )
2016
11
T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome. ( 27785413 )
2016
12
Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome. ( 25523867 )
2015
13
Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application. ( 26265251 )
2015
14
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). ( 25677497 )
2015
15
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
16
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. ( 26271390 )
2015
17
Generation of iPSC lines from a Nijmegen Breakage Syndrome patient. ( 26987925 )
2015
18
The role of nibrin in doxorubicin-induced apoptosis and cell senescence in Nijmegen Breakage Syndrome patients lymphocytes. ( 25119968 )
2014
19
Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome. ( 24619942 )
2014
20
Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line. ( 24928521 )
2014
21
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
22
An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma. ( 24428841 )
2014
23
Radiation-induced telomere length variations in normal and in Nijmegen Breakage Syndrome cells. ( 24168161 )
2014
24
Nijmegen breakage syndrome fibroblasts expressing the C-terminal truncated NBN(p70) protein undergo p38/MK2-dependent premature senescence. ( 25214013 )
2014
25
Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide. ( 24834778 )
2014
26
Clinical significance of increased expression of Nijmegen breakage syndrome gene (NBS1) in human primary liver cancer. ( 26202506 )
2014
27
Mutation Inactivation of Nijmegen Breakage Syndrome Gene (NBS1) in Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma. ( 24349281 )
2013
28
Nijmegen breakage syndrome and chronic polyarthritis. ( 24044622 )
2013
29
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
30
Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. ( 23765759 )
2013
31
Cutaneous sarcoid-like granulomas in a child known with nijmegen breakage syndrome. ( 23550270 )
2013
32
Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific. ( 23458873 )
2013
33
Nijmegen breakage syndrome (NBS). ( 22373003 )
2012
34
Haploinsufficiency of the Nijmegen breakage syndrome 1 gene increases mammary tumor latency and metastasis. ( 22576691 )
2012
35
Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome. ( 22533239 )
2012
36
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress. ( 22396666 )
2012
37
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. ( 22851427 )
2012
38
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. ( 22293976 )
2012
39
Astrocyte dysfunction associated with cerebellar attrition in a Nijmegen breakage syndrome animal model. ( 21279473 )
2011
40
Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis. ( 20924312 )
2011
41
Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia. ( 21557461 )
2011
42
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. ( 21227757 )
2011
43
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. ( 21923652 )
2011
44
Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome. ( 20609147 )
2010
45
Telomerase upregulation is a postcrisis event during senescence bypass and immortalization of two Nijmegen breakage syndrome T cell cultures. ( 20089118 )
2010
46
Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. ( 20167538 )
2010
47
High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. ( 20444919 )
2010
48
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. ( 20597108 )
2010
49
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. ( 20947454 )
2010
50
Successful SCT for Nijmegen breakage syndrome. ( 19684627 )
2010

Variations for Nijmegen Breakage Syndrome

ClinVar genetic disease variations for Nijmegen Breakage Syndrome:

6
(show top 50) (show all 1123)
# 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.741_742dupGG (p.Glu248Glyfs) duplication Pathogenic rs864309670 GRCh37 Chromosome 8, 90982746: 90982747
14 NBN NM_002485.4(NBN): c.741_742dupGG (p.Glu248Glyfs) duplication Pathogenic rs864309670 GRCh38 Chromosome 8, 89970518: 89970519
15 NBN NM_002485.4(NBN): c.698_701delAACA (p.Lys233Serfs) deletion Pathogenic rs587780100 GRCh37 Chromosome 8, 90983402: 90983405
16 NBN NM_002485.4(NBN): c.698_701delAACA (p.Lys233Serfs) deletion Pathogenic rs587780100 GRCh38 Chromosome 8, 89971174: 89971177
17 NBN NM_002485.4(NBN): c.88_89delAA (p.Asn30Leufs) deletion Pathogenic/Likely pathogenic rs587781718 GRCh37 Chromosome 8, 90995032: 90995033
18 NBN NM_002485.4(NBN): c.88_89delAA (p.Asn30Leufs) deletion Pathogenic/Likely pathogenic rs587781718 GRCh38 Chromosome 8, 89982804: 89982805
19 NBN NM_002485.4(NBN): c.123delC (p.Ser42Alafs) deletion Pathogenic rs587781891 GRCh37 Chromosome 8, 90994998: 90994998
20 NBN NM_002485.4(NBN): c.123delC (p.Ser42Alafs) deletion Pathogenic rs587781891 GRCh38 Chromosome 8, 89982770: 89982770
21 NBN NM_002485.4(NBN): c.1142delC (p.Pro381Glnfs) deletion Pathogenic/Likely pathogenic rs587781969 GRCh37 Chromosome 8, 90967766: 90967766
22 NBN NM_002485.4(NBN): c.1142delC (p.Pro381Glnfs) deletion Pathogenic/Likely pathogenic rs587781969 GRCh38 Chromosome 8, 89955538: 89955538
23 NBN NM_002485.4(NBN): c.1474C> T (p.Gln492Ter) single nucleotide variant Pathogenic rs587782130 GRCh37 Chromosome 8, 90965843: 90965843
24 NBN NM_002485.4(NBN): c.1474C> T (p.Gln492Ter) single nucleotide variant Pathogenic rs587782130 GRCh38 Chromosome 8, 89953615: 89953615
25 NBN NM_002485.4(NBN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200287925 GRCh37 Chromosome 8, 90994994: 90994994
26 NBN NM_002485.4(NBN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200287925 GRCh38 Chromosome 8, 89982766: 89982766
27 NBN NM_002485.4(NBN): c.1903A> T (p.Lys635Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782545 GRCh37 Chromosome 8, 90960063: 90960063
28 NBN NM_002485.4(NBN): c.1903A> T (p.Lys635Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782545 GRCh38 Chromosome 8, 89947835: 89947835
29 NBN NM_002485.4(NBN): c.2215C> G (p.Leu739Val) single nucleotide variant Uncertain significance rs370058152 GRCh38 Chromosome 8, 89937045: 89937045
30 NBN NM_002485.4(NBN): c.2215C> G (p.Leu739Val) single nucleotide variant Uncertain significance rs370058152 GRCh37 Chromosome 8, 90949273: 90949273
31 NBN NM_002485.4(NBN): c.2184+8G> C single nucleotide variant Likely benign rs730881842 GRCh38 Chromosome 8, 89943245: 89943245
32 NBN NM_002485.4(NBN): c.2184+8G> C single nucleotide variant Likely benign rs730881842 GRCh37 Chromosome 8, 90955473: 90955473
33 NBN NM_002485.4(NBN): c.2140C> T (p.Arg714Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881864 GRCh38 Chromosome 8, 89943297: 89943297
34 NBN NM_002485.4(NBN): c.2140C> T (p.Arg714Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881864 GRCh37 Chromosome 8, 90955525: 90955525
35 NBN NM_002485.4(NBN): c.2117C> G (p.Ser706Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881857 GRCh38 Chromosome 8, 89943320: 89943320
36 NBN NM_002485.4(NBN): c.2117C> G (p.Ser706Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881857 GRCh37 Chromosome 8, 90955548: 90955548
37 NBN NM_002485.4(NBN): c.2029G> A (p.Asp677Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881856 GRCh38 Chromosome 8, 89946181: 89946181
38 NBN NM_002485.4(NBN): c.2029G> A (p.Asp677Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881856 GRCh37 Chromosome 8, 90958409: 90958409
39 NBN NM_002485.4(NBN): c.1708A> G (p.Thr570Ala) single nucleotide variant Uncertain significance rs730881854 GRCh38 Chromosome 8, 89953381: 89953381
40 NBN NM_002485.4(NBN): c.1708A> G (p.Thr570Ala) single nucleotide variant Uncertain significance rs730881854 GRCh37 Chromosome 8, 90965609: 90965609
41 NBN NM_002485.4(NBN): c.1619A> G (p.His540Arg) single nucleotide variant Uncertain significance rs730881852 GRCh38 Chromosome 8, 89953470: 89953470
42 NBN NM_002485.4(NBN): c.1619A> G (p.His540Arg) single nucleotide variant Uncertain significance rs730881852 GRCh37 Chromosome 8, 90965698: 90965698
43 NBN NM_002485.4(NBN): c.1404G> T (p.Arg468Ser) single nucleotide variant Uncertain significance rs730881851 GRCh38 Chromosome 8, 89953685: 89953685
44 NBN NM_002485.4(NBN): c.1404G> T (p.Arg468Ser) single nucleotide variant Uncertain significance rs730881851 GRCh37 Chromosome 8, 90965913: 90965913
45 NBN NM_002485.4(NBN): c.1397+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs730881850 GRCh38 Chromosome 8, 89955281: 89955281
46 NBN NM_002485.4(NBN): c.1397+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs730881850 GRCh37 Chromosome 8, 90967509: 90967509
47 NBN NM_002485.4(NBN): c.1343A> T (p.Gln448Leu) single nucleotide variant Uncertain significance rs146403088 GRCh38 Chromosome 8, 89955337: 89955337
48 NBN NM_002485.4(NBN): c.1343A> T (p.Gln448Leu) single nucleotide variant Uncertain significance rs146403088 GRCh37 Chromosome 8, 90967565: 90967565
49 NBN NM_002485.4(NBN): c.1089C> T (p.Tyr363=) single nucleotide variant Conflicting interpretations of pathogenicity rs121908974 GRCh38 Chromosome 8, 89958760: 89958760
50 NBN NM_002485.4(NBN): c.1089C> T (p.Tyr363=) single nucleotide variant Conflicting interpretations of pathogenicity rs121908974 GRCh37 Chromosome 8, 90970988: 90970988

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 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
2
Show member pathways
13.42 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
3
Show member pathways
13.15 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
4
Show member pathways
13.07 ATM H2AFX MRE11 NBN RAD50 TP53
5
Show member pathways
13.01 ATM BRCA1 CHEK2 MDC1 MRE11 NBN
6
Show member pathways
12.95 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
7
Show member pathways
12.76 ATM BRCA1 CHEK2 LIG4 MRE11 NBN
8
Show member pathways
12.59 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
9
Show member pathways
12.56 ATM BRCA1 H2AFX MRE11 NBN RAD50
10
Show member pathways
12.51 BRCA1 MDC1 TP53 WRN
11
Show member pathways
12.45 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
12
Show member pathways
12.44 ATM H2AFX MRE11 NBN RAD50 TP53
13 12.43 ATM BRCA1 CHEK2 H2AFX LIG4 MRE11
14
Show member pathways
12.38 ATM BRCA1 MRE11 NBN RAD50 WRN
15 12.27 ATM CHEK2 MRE11 NBN RAD50 TP53
16 12.24 ATM BRCA1 CHEK2 MRE11 RAD50 TP53
17
Show member pathways
12.23 ATM BRCA1 CHEK2 TP53
18
Show member pathways
12.23 ATM BRCA1 MRE11 NBN RAD50 WRN
19 12.22 ATM CHEK2 TP53
20
Show member pathways
12.21 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
21
Show member pathways
11.92 ATM BRCA1 CHEK2 MRE11 NBN RAD50
22
Show member pathways
11.88 MRE11 NBN RAD50
23 11.82 ATM MRE11 NBN RAD50 WRN
24 11.75 ATM BRCA1 CHEK2 TP53
25 11.71 ATM BRCA1 TP53
26
Show member pathways
11.71 ATM CHEK2 TP53
27 11.65 ATM BRCA1 CHEK2 MRE11 RAD50 TP53
28 11.62 ATM BRCA1 CHEK2 MDC1 NBN TP53
29 11.61 ATM CHEK2 TP53
30
Show member pathways
11.55 ATM BRCA1 CHEK2 H2AFX MDC1 MRE11
31 11.53 ATM H2AFX TP53
32
Show member pathways
11.48 ATM CHEK2 TP53
33 11.37 ATM BRCA1 MRE11 NBN RAD50 TP53
34 11.32 ATM BRCA1 TP53
35 11.23 BRCA1 LIG4 MRE11 NBN RAD50 WRN
36 11.18 BRCA1 TP53
37 11.18 ATM CHEK2 H2AFX
38
Show member pathways
11.1 ATM MRE11 NBN RAD50
39 11.09 ATM BRCA1 TP53
40
Show member pathways
11.02 ATM TP53
41 10.83 ATM CHEK2 H2AFX MDC1 MRE11 NBN
42 10.36 CHEK2 TP53

GO Terms for Nijmegen Breakage Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.77 ATM LIG4 MRE11 NBN RAD50
2 PML body GO:0016605 9.73 CHEK2 MRE11 NBN TP53
3 chromosome GO:0005694 9.7 BRCA1 H2AFX MDC1 MRE11 NBN RAD50
4 nucleoplasm GO:0005654 9.7 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
5 nuclear chromatin GO:0000790 9.69 H2AFX RAD50 TP53
6 condensed nuclear chromosome GO:0000794 9.65 BRCA1 H2AFX RAD50
7 site of double-strand break GO:0035861 9.62 H2AFX MRE11 NBN RAD50
8 Mre11 complex GO:0030870 9.58 MRE11 NBN RAD50
9 replication fork GO:0005657 9.56 H2AFX NBN TP53 WRN
10 condensed chromosome GO:0000793 9.49 BRCA1 LIG4
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 57)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.98 LIG4 MRE11 NBN TP53
2 double-strand break repair via homologous recombination GO:0000724 9.95 ATM BRCA1 H2AFX MRE11 NBN RAD50
3 telomere maintenance GO:0000723 9.93 ATM MRE11 NBN RAD50 WRN
4 regulation of signal transduction by p53 class mediator GO:1901796 9.92 ATM BRCA1 CHEK2 MRE11 NBN RAD50
5 meiotic cell cycle GO:0051321 9.91 H2AFX MRE11 NBN RAD50
6 cellular response to gamma radiation GO:0071480 9.91 ATM CHEK2 H2AFX TP53 WRN
7 DNA synthesis involved in DNA repair GO:0000731 9.91 ATM BRCA1 MRE11 NBN RAD50 WRN
8 response to ionizing radiation GO:0010212 9.88 ATM BRCA1 H2AFX LIG4
9 cell cycle arrest GO:0007050 9.87 ATM NBN TP53
10 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.87 MRE11 RAD50 WRN
11 DNA duplex unwinding GO:0032508 9.87 MRE11 NBN RAD50 WRN
12 DNA double-strand break processing GO:0000729 9.85 ATM BRCA1 MRE11 NBN RAD50
13 strand displacement GO:0000732 9.85 ATM BRCA1 MRE11 NBN RAD50 WRN
14 DNA repair GO:0006281 9.85 ATM BRCA1 CHEK2 H2AFX LIG4 MDC1
15 positive regulation of kinase activity GO:0033674 9.83 MRE11 NBN RAD50
16 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.83 ATM CHEK2 TP53
17 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.82 ATM BRCA1 CHEK2
18 base-excision repair GO:0006284 9.82 MRE11 TP53 WRN
19 reciprocal meiotic recombination GO:0007131 9.81 ATM MRE11 RAD50
20 DNA damage checkpoint GO:0000077 9.8 CHEK2 H2AFX NBN
21 response to gamma radiation GO:0010332 9.8 CHEK2 LIG4 TP53
22 positive regulation of protein autophosphorylation GO:0031954 9.78 MRE11 NBN RAD50
23 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.77 BRCA1 CHEK2 TP53
24 replicative senescence GO:0090399 9.77 ATM CHEK2 TP53
25 positive regulation of telomere maintenance GO:0032206 9.76 MRE11 NBN RAD50
26 negative regulation of telomere capping GO:1904354 9.73 ATM NBN RAD50
27 neuron apoptotic process GO:0051402 9.72 ATM LIG4
28 intrinsic apoptotic signaling pathway GO:0097193 9.72 NBN TP53
29 cell aging GO:0007569 9.72 TP53 WRN
30 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.72 CHEK2 TP53
31 telomeric 3 overhang formation GO:0031860 9.72 MRE11 NBN RAD50
32 positive regulation of DNA repair GO:0045739 9.71 BRCA1 H2AFX
33 telomere capping GO:0016233 9.71 NBN RAD50
34 positive regulation of cell cycle arrest GO:0071158 9.71 BRCA1 TP53
35 chromosome organization GO:0051276 9.71 LIG4 MRE11
36 response to X-ray GO:0010165 9.71 LIG4 TP53
37 telomere maintenance via telomerase GO:0007004 9.7 MRE11 RAD50
38 mitotic G2 DNA damage checkpoint GO:0007095 9.7 MRE11 NBN
39 intra-S DNA damage checkpoint GO:0031573 9.69 MDC1 MRE11
40 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.69 NBN TP53
41 isotype switching GO:0045190 9.68 LIG4 NBN
42 determination of adult lifespan GO:0008340 9.68 ATM TP53
43 t-circle formation GO:0090656 9.68 NBN WRN
44 V(D)J recombination GO:0033151 9.67 ATM LIG4
45 signal transduction in response to DNA damage GO:0042770 9.67 CHEK2 NBN
46 chromosome organization involved in meiotic cell cycle GO:0070192 9.67 ATM RAD50
47 DNA damage induced protein phosphorylation GO:0006975 9.66 ATM CHEK2
48 replicative cell aging GO:0001302 9.65 CHEK2 WRN
49 regulation of mitotic recombination GO:0000019 9.64 MRE11 RAD50
50 double-strand break repair GO:0006302 9.56 BRCA1 CHEK2 H2AFX LIG4 MRE11 NBN

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

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

Sources for Nijmegen Breakage Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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