NBS
MCID: NJM001
MIFTS: 74

Nijmegen Breakage Syndrome (NBS)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Nijmegen Breakage Syndrome

MalaCards integrated aliases for Nijmegen Breakage Syndrome:

Name: Nijmegen Breakage Syndrome 56 12 74 24 52 25 58 73 13 54 43 15 71
Berlin Breakage Syndrome 12 74 52 25 58
Microcephaly, Normal Intelligence and Immunodeficiency 12 25 29 6
Ataxia-Telangiectasia Variant 12 58 29 6
Nbs 56 12 58 73
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome 12 58
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome 12 58
Ataxia-Telangiectasia Variant V1 56 52
Seemanova Syndrome Type 2 12 58
Seemanova Syndrome Ii 56 12
Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies 56
Microcephaly with Normal Intelligence Immunodeficiency and Lymphoreticular Malignancies 52
Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence 56
Nonsyndromal Microcephaly Autosomal Recessive with Normal Intelligence 52
Immunodeficiency, Microcephaly, and Chromosomal Instability 56
Microcephaly Immunodeficiency Lymphoreticuloma 52
Ataxia-Telangiectasia Variant V1; at-V1 56
Ataxia Telangiectasia Variant V1 74
Ataxia-Telangiectasia, Variant 1 58
Ataxia-Telangiectasia Variant 1 25
Syndrome, Nijmegen Breakage 39
Seemanova Syndrome 2 52
Seemanova Syndrome 25
at-V1 56
at V1 58
V-at 58

Characteristics:

Orphanet epidemiological data:

58
nijmegen breakage syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
nijmegen breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Nijmegen Breakage Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 647 Definition Nijmegen 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. Epidemiology Prevalence 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 description Clinical 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. Cafe 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. Etiology NBS 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 methods Diagnosis 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 diagnosis Differential diagnosis includes Fanconi anemia , Bloom syndrome, NBS-like disorder, ataxia -telangectasia-like disorder, LIG4 syndrome, NHEJ1 syndrome and Seckel syndrome (see these terms). Antenatal diagnosis Affected families may be offered prenatal diagnosis by molecular analysis if both disease-causing gene mutations are known. Genetic counseling Parents 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 treatment There 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). Prognosis Prognosis 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 lig4 syndrome. 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 Fluticasone and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include t cells, kidney and lung, and related phenotypes are depressed nasal bridge and macrotia

Disease Ontology : 12 A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has material basis in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.

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. People with this condition typically grow slowly during infancy and early childhood. After this period of slow growth, affected individuals grow at a normal rate but remain shorter than their peers. Microcephaly is apparent from birth in the majority of affected individuals. The head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Individuals with Nijmegen breakage syndrome have distinctive facial features that include a sloping forehead, a prominent nose, large ears, a small jaw, and outside corners of the eyes that point upward (upslanting palpebral fissures). These facial features typically become apparent by age 3. People with Nijmegen breakage syndrome have a malfunctioning immune system (immunodeficiency) with abnormally low levels of immune system proteins called immunoglobulin G (IgG) and immunoglobulin A (IgA). Affected individuals also have a shortage of immune system cells called T cells. The immune system abnormalities increase susceptibility to recurrent infections, such as bronchitis, pneumonia, sinusitis, and other infections affecting the upper respiratory tract and lungs. Individuals with Nijmegen breakage syndrome have an increased risk of developing cancer, most commonly a cancer of immune system cells called non-Hodgkin lymphoma. About half of individuals with Nijmegen breakage syndrome develop non-Hodgkin lymphoma, usually before age 15. Other cancers seen in people with Nijmegen breakage syndrome include brain tumors such as medulloblastoma and glioma, and a cancer of muscle tissue called rhabdomyosarcoma. People with Nijmegen breakage syndrome are 50 times more likely to develop cancer than people without this condition. Intellectual development is normal in most people with this condition for the first year or two of life, but then development becomes delayed. Skills decline over time, and most affected children and adults have mild to moderate intellectual disability. Most affected woman have premature ovarian failure and do not begin menstruation by age 16 (primary amenorrhea) or have infrequent menstrual periods. Most women with Nijmegen breakage syndrome are unable to have biological children (infertile).

OMIM : 56 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 : 73 Nijmegen breakage syndrome: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.

Wikipedia : 74 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 266)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome-like disorder 35.3 RAD50 MRE11
2 lig4 syndrome 32.4 XRCC6 XRCC5 NHEJ1 NBN MRE11 MDC1
3 telangiectasis 32.0 NBN CHEK2 ATM
4 ataxia-telangiectasia-like disorder 1 31.2 NBN MRE11
5 suppression of tumorigenicity 12 31.1 TP53 CHEK2 BRCA1 ATM
6 severe combined immunodeficiency 31.0 XRCC6 XRCC5 NHEJ1 LIG4 DCLRE1C
7 hereditary breast ovarian cancer syndrome 30.9 TP53 RAD51 RAD50 NBN MRE11 CHEK2
8 medulloblastoma 30.8 WRN TP53 RAD51 NBN LIG4 BRCA1
9 prolymphocytic leukemia 30.7 TP53 CHEK2 ATM
10 bloom syndrome 30.4 XRCC6 WRN TERF2 RAD51 H2AX BRCA1
11 microcephaly 30.4 XRCC6 XRCC5 TP53 SMC1A RAD51 RAD50
12 ataxia-telangiectasia 30.0 XRCC5 TP53 SMC1A RAD50 NBN MRE11
13 leukemia, acute myeloid 30.0 TP53 SMC1A RAD51 CHEK2 BRCA1 ATM
14 ovarian cancer 29.5 TP53 RAD51 RAD50 NBN MRE11 H2AX
15 fanconi anemia, complementation group a 28.7 XRCC6 XRCC5 WRN TP53 RAD51 RAD50
16 neuroblastoma 12.1
17 nicolaides-baraitser syndrome 12.0
18 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.8
19 hoyeraal hreidarsson syndrome 11.5
20 duarte variant galactosemia 11.4
21 ataxia and polyneuropathy, adult-onset 11.0
22 autosomal recessive disease 10.9
23 lymphoma 10.6
24 vulvar intraepithelial neoplasia 10.6 TP53 H2AX
25 lymphoma, hodgkin, classic 10.6
26 breast-ovarian cancer, familial 1 10.6
27 thymus lymphoma 10.6 TP53 LIG4
28 lymphoma, non-hodgkin, familial 10.6
29 basaloid lung carcinoma 10.5 TP53 BRCA1
30 adenocarcinoma 10.5
31 spinocerebellar ataxia type 1 with axonal neuropathy 10.5 NHEJ1 LIG4 ATM
32 immunodeficiency with hyper-igm, type 4 10.5 NHEJ1 LIG4
33 pustulosis of palm and sole 10.5
34 psoriasis 10.5
35 fallopian tube carcinoma 10.5 TP53 MRE11 BRCA1
36 maxillary sinus adenocarcinoma 10.5 TP53 ATM
37 seckel syndrome 1 10.5 RAD50 NHEJ1 ATR
38 leukemia, acute lymphoblastic 10.5
39 allergic hypersensitivity disease 10.5
40 riddle syndrome 10.5 MDC1 H2AX BRCA1
41 rothmund-thomson syndrome, type 2 10.5 WRN RAD51 ATM
42 female breast cancer 10.5 TP53 BRCA1 ATM
43 ovarian serous adenofibroma 10.5 TP53 BRCA1
44 immune deficiency disease 10.4
45 hypogonadism 10.4
46 endosalpingiosis 10.4 TP53 BRCA1
47 ovary adenocarcinoma 10.4 TP53 BRCA1 ATM
48 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.4 BRCA1 ATM
49 bile duct cystadenoma 10.4 CHEK2 ATM
50 b-cell lymphoma 10.4

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:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 hearing abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000364
7 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
8 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
9 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
10 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
11 abnormality of chromosome stability 58 31 hallmark (90%) Very frequent (99-80%) HP:0003220
12 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
13 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
14 deep philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002002
15 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
16 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
17 mental deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268
18 chronic diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002028
19 recurrent pneumonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006532
20 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
21 abnormal hair quantity 58 31 hallmark (90%) Very frequent (99-80%) HP:0011362
22 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
23 anal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002025
24 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
25 recurrent sinopulmonary infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0005425
26 autoimmune hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001890
27 pollakisuria 58 31 frequent (33%) Frequent (79-30%) HP:0100515
28 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
29 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
30 cutaneous photosensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000992
31 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
32 rhabdomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002859
33 glioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009733
34 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
35 freckling 58 31 occasional (7.5%) Occasional (29-5%) HP:0001480
36 abnormality of neuronal migration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002269
37 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
38 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
39 t-cell lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012190
40 b-cell lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012191
41 lymphoma 58 31 Occasional (29-5%) HP:0002665
42 intellectual disability 31 HP:0001249
43 recurrent respiratory infections 58 Very frequent (99-80%)
44 sinusitis 31 HP:0000246
45 recurrent urinary tract infections 31 HP:0000010
46 intrauterine growth retardation 31 HP:0001511
47 premature ovarian insufficiency 31 HP:0008209
48 micrognathia 31 HP:0000347
49 hemolytic anemia 58 Very frequent (99-80%)
50 abnormality of the face 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly
mastoiditis

Head And Neck Mouth:
cleft palate
cleft lip

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

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

Head And Neck Ears:
otitis media
large dysplastic ears

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

Hematology:
autoimmune hemolytic anemia
thrombocytopenia post hemolytic anemia

Endocrine Features:
primary ovarian failure

Growth Other:
prenatal growth retardation

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

Respiratory Nasopharynx:
sinusitis

Genitourinary Kidneys:
recurrent urinary tract infections
hydronephrosis

Abdomen Gastrointestinal:
anal atresia
anal stenosis
diarrhea and recurrent gi infections

Neoplasia:
lymphoma
rhabdomyosarcoma
glioma
medulloblastoma

Respiratory Lung:
recurrent pneumonia

Respiratory Airways:
bronchiectasis
bronchitis

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

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

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:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.37 ATM CHEK2 LIG4 TP53
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.37 ATM ATR BRCA1 CHEK2 FANCD2 LIG4
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.37 ATM BRCA1 H2AX LIG4 MDC1 MRE11
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.15 ATR BRCA1 FANCD2 H2AX MDC1 MRE11
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.15 ATM ATR BRCA1 FANCD2 H2AX LIG4
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.15 ATM ATR BRCA1 CHEK2 FANCD2 H2AX
7 Decreased homologous recombination repair frequency GR00151-A-1 10.07 BRCA1 RAD51
8 Decreased homologous recombination repair frequency GR00151-A-2 10.07 BRCA1 RAD51
9 Decreased homologous recombination repair frequency GR00236-A-1 10.07 BRCA1 RAD51
10 Decreased homologous recombination repair frequency GR00236-A-2 10.07 BRCA1 RAD51
11 Decreased homologous recombination repair frequency GR00236-A-3 10.07 BRCA1 RAD51
12 Reduced mammosphere formation GR00396-S 9.7 ATM ATR DCLRE1C FANCD2 RAD51 XRCC5
13 Decreased viability with cisplatin GR00101-A-4 9.5 ATR BRCA1 RAD51
14 Synthetic lethal with cisplatin GR00101-A-1 9.26 ATR BRCA1 DCLRE1C RAD51

MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.51 ATM ATR BRCA1 CHEK2 DCLRE1C FANCD2
2 endocrine/exocrine gland MP:0005379 10.36 ATM ATR BRCA1 CHEK2 DCLRE1C FANCD2
3 hematopoietic system MP:0005397 10.36 ATM ATR BRCA1 CHEK2 DCLRE1C FANCD2
4 growth/size/body region MP:0005378 10.34 ATM ATR BRCA1 DCLRE1C FANCD2 H2AX
5 immune system MP:0005387 10.28 ATM ATR BRCA1 CHEK2 DCLRE1C FANCD2
6 behavior/neurological MP:0005386 10.26 ATM ATR BRCA1 FANCD2 LIG4 MRE11
7 homeostasis/metabolism MP:0005376 10.21 ATM ATR BRCA1 CHEK2 FANCD2 H2AX
8 mortality/aging MP:0010768 10.21 ATM ATR BRCA1 CHEK2 FANCD2 H2AX
9 embryo MP:0005380 10.13 ATM ATR BRCA1 MRE11 NBN NHEJ1
10 digestive/alimentary MP:0005381 10.04 ATR BRCA1 LIG4 RAD50 TP53 WRN
11 neoplasm MP:0002006 10.03 ATM ATR BRCA1 CHEK2 FANCD2 H2AX
12 nervous system MP:0003631 9.77 ATM ATR BRCA1 CHEK2 FANCD2 LIG4
13 reproductive system MP:0005389 9.5 ATM ATR BRCA1 CHEK2 FANCD2 H2AX

Drugs & Therapeutics for Nijmegen Breakage Syndrome

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

(show top 50) (show all 154)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
2
Nicotine Approved Phase 4 54-11-5 942 89594
3
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
4
Budesonide Approved Phase 4 51333-22-3 63006 5281004
5
Montelukast Approved Phase 4 158966-92-8 5281040
6
Azithromycin Approved Phase 4 83905-01-5 447043 55185
7
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
8
Cetrorelix Approved, Investigational Phase 4 120287-85-6 16129715 25074887
9
Bambuterol Investigational Phase 4 81732-65-2, 81732-46-9 54766
10 Anti-Allergic Agents Phase 4
11 Fluticasone-Salmeterol Drug Combination Phase 4
12 Dermatologic Agents Phase 4
13 Anticonvulsants Phase 4
14 Interleukin-4 Phase 4
15 Interleukin-12 Phase 4
16 Parasympatholytics Phase 4
17 Cholinergic Antagonists Phase 4
18 Tiotropium Bromide Phase 4 136310-93-5
19 Bromides Phase 4
20 Cholinergic Agents Phase 4
21 Central Nervous System Stimulants Phase 4
22 Nicotinic Agonists Phase 4
23 Tin Fluorides Phase 4
24 Hormone Antagonists Phase 4
25 Hormones Phase 4
26 Respiratory System Agents Phase 4
27 glucocorticoids Phase 4
28 Anti-Asthmatic Agents Phase 4
29 Anti-Inflammatory Agents Phase 4
30 Adrenergic beta-Agonists Phase 4
31
Salmeterol xinafoate Phase 4 94749-08-3 56801
32 Adrenergic Agents Phase 4
33 Adrenergic Agonists Phase 4
34 Neurotransmitter Agents Phase 4
35 Bronchodilator Agents Phase 4
36 Leukotriene Antagonists Phase 4
37 Anti-Infective Agents Phase 4
38 Anti-Bacterial Agents Phase 4
39 Progestins Phase 4
40
Testosterone enanthate Approved Phase 3 315-37-7 9416
41
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0
42
Testosterone Approved, Experimental, Investigational Phase 3 58-22-0, 481-30-1 10204 6013
43
Methyltestosterone Approved Phase 3 58-18-4 6010
44
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
45
Zinc Approved, Investigational Phase 2, Phase 3 7440-66-6 32051
46
Terlipressin Approved, Investigational Phase 3 14636-12-5 72081
47
Norepinephrine Approved Phase 3 51-41-2 439260
48
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
49
Sodium citrate Approved, Investigational Phase 3 68-04-2
50
Sofosbuvir Approved Phase 3 1190307-88-0 45375808

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 A 12-week, Double-blind, Multicenter, 3-crossover, Placebo Controlled and Randomized Trial to Investigate the Efficacy and Safety of 10mg and 5mg Bambuterol Tablets Once Daily in Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT01796730 Phase 4 bambuterol;Placebo
2 Randomized, Double-blind, Placebo-controlled Study to Measure 2L®ALERG (Homeopathic Drug) Efficacy on Symptoms of Allergic Rhinitis and Allergic Rhinoconjunctivitis in Patients With a Seasonal Allergy to Grass Pollen Completed NCT02690935 Phase 4 2LALERG;Placebo
3 A Study of Fluticasone Propionate/Salmeterol DISKUS Combination Product 250/50 mcg Twice Daily Plus Tiotropium 18 mcg Daily Versus Placebo DISKUS Twice Daily Plus Tiotropium 18 mcg Daily on Exercise Time and Physiological Parameters in Subjects With Chronic Obstructive Pulmonary Disease Completed NCT01124422 Phase 4 fluticasone propionate/salmeterol inhalation powder DISKUS 250/50;tiotropium bromide inhalation powder HandiHaler
4 The Effects of Behavioral Counseling Plus Nicotine Replacement Therapy (NRT) or Varenicline on Smoking Cessation Among Smokers High and Low in Intrinsic Reward Sensitivity Active, not recruiting NCT02162849 Phase 4 Varenicline;Nicotine Patch;Placebo Patch;Placebo Tablet
5 Childhood Asthma Research and Education (CARE) Network Trial - Montelukast or Azithromycin for Reduction of Inhaled Corticosteroids in Childhood Asthma (MARS) Terminated NCT00471809 Phase 4 Budesonide + Salmeterol + Azithromycin;Budesonide + Salmeterol + Montelukast;Budesonide + Salmeterol + Placebo
6 Subcutaneous Versus Vaginal Progesterone as Luteal Support in IVF/ICSI Cycles: Which is the Preference Expressed by the Patients? Terminated NCT03181685 Phase 4 Progesterone 25 MG subcutaneous;Micronized progesterone 200 MG;recombinant FSH;Cetrorelix Acetate
7 Enhancing Communication and HIV Outcomes Completed NCT00675610 Phase 3
8 A Multicenter, Open, Single Arm Evaluation of the Efficacy, Safety and Pharmacokinetics of Recombinant Human Coagulation FVIII (SCT800) in Prophylaxis Therapy on Patients With Severe Hemophilia A Who Had Previously Treated With FVIII. Completed NCT03815318 Phase 3 Recombinant Human Coagulation FVIII
9 Double-Blind, Placebo Controlled Randomized Study of Co-Administering Testosterone With PDE5 Inhibitors in Patients Non-Responders to PDE5 Inhibitors Alone Completed NCT00244023 Phase 3 Testosterone gel;testosterone
10 Does Zinc Supplementation Reduce the Extent of Oxidative Stress Damage in Diabetics? A Randomised Placebo-controlled Study. Completed NCT01309620 Phase 2, Phase 3
11 Comparison of The Effectiveness of Terlipressin Infusion Alone Vs Terlipressin With Noradrenaline Infusion In The Treatment of Hepatorenal Syndrome Type 1 Recruiting NCT03822091 Phase 3 Terlipressin;Terlipressin and Noradrenaline
12 Long-acting Exenatide: a Tool to Stop Cognitive Decline in Dysglycemic Patients With Mild Cognitive Impairment? Recruiting NCT02847403 Phase 3 Exenatide
13 Sildenafil for the Prevention of Right Heart Failure Following Continuous-Flow Left Ventricular Assist Device Implantation (The REVAD Study) Recruiting NCT03356353 Phase 3 Sildenafil Citrate
14 Pharmacokinetics of Low-dose Sofosbuvir in Dialysis-dependent Patients With Hepatitis C Virus Infection Recruiting NCT03883698 Phase 3 Sofosbuvir;Daclatasvir 60 mg
15 Lactobacillus Probiotic for Prevention of UTI Active, not recruiting NCT03151967 Phase 2, Phase 3 Lactobacillus crispatus CTV-05;Placebo
16 A Multi-centre, Randomized, Double-blind, Placebo-controlled Phase III Study to Evaluate the Efficacy and Safety of Anti-IgE Monoclonal Antibody to Treat Allergic Asthma Patients Not Adequately Controlled Despite Med/High ICS/LABA. Enrolling by invitation NCT03468790 Phase 3 CMAB007;Symbicort;Seretide;Ventolin;placebo
17 Non-inferiority Trial of Three Cycles of Zoledronic Acid Versus Percutaneous Thermal Ablation in Osteoid Osteoma Suspended NCT02739555 Phase 3 Acide Zoledronique
18 Safety and Biological Activity of a New Prolonged Release Formulation of Octreotide Acetate, C2l-OCT-01 PR, Administered Intra Muscularly Every 4, 5 or 6 Weeks in Acromegalic Patients Terminated NCT00642421 Phase 3 C2L-OCT-01 PR, 10 or 20 mg;C2L-OCT-01 PR, 20 mg
19 A Phase II, Randomized, Placebo-controlled, Observer-blind, Multi Center Study on the Safety and Immunogenicity of Novartis Tetravalent Influenza Vaccine (Containing Both Interpandemic Strains and H5N1) in Adults Aged 18 Years and Above Completed NCT00620815 Phase 2
20 Randomized Controlled Clinical Trial for Assessing Tolerability and Effectiveness of Formula Coleosoma 29 in Patients With Dyslipidemia Completed NCT03027336 Phase 2
21 A Double-blind, Placebo-controlled, Parallel Design, Randomized, Phase 2A Clinical Trial Evaluating the Potential Activity and Safety of hMaxi-K Gene Transfer in Males With Erectile Dysfunction Completed NCT02713789 Phase 2 hMaxi-K Single Treatment/ 2 escalating dose levels (8000 µg and 16000 µg injection);Placebo (PBS-20% sucrose)
22 Efficacy and Safety of Eslicarbazepine Acetate as Therapy in Subjects With Fibromyalgia: a Double-blind, Randomised, Placebo-controlled, Parallel-group, Multicentre Clinical Trial Completed NCT01820585 Phase 2 Placebo;ESL 400 mg;ESL 800 mg;ESL 1200 mg
23 Innovative Approaches to Increase F&V Intake Thru Worksites: The Fresh Initiative Completed NCT02729675 Phase 2
24 A Phase IIa Study of the Colonization Efficiency, Safety and Acceptability of LACTIN-V Administered Vaginally to Women With Bacterial Vaginosis Completed NCT00635622 Phase 2 LACTIN-V;Placebo control substance
25 Phase II-b Randomized Double-Blind Placebo-Controlled Trial of Lactobacillus Crispatus CTV-05 (LACTIN-V) to Prevent the Recurrence of Bacterial Vaginosis Completed NCT02766023 Phase 2 Metronidazole
26 A Pharmacokinetic/Pharmacodynamic and Safety Evaluation of Oseltamivir (Tamiflu®) for the Treatment of Children Less Than 24 Months of Age With Confirmed Influenza Infection (CASG 114) Completed NCT00391768 Phase 1, Phase 2 oseltamivir (Tamiflu®)
27 Intravaginal LACTIN-V for Prevention of Recurrent Urinary Tract Infections Completed NCT00305227 Phase 2 Lactin-V;Placebo
28 Clinical Open-label Phase 2 Study of Low Dose Treosulfan Based Conditioning Regimen Efficacy in Hematopoietic Stem Cell Transplantation for Children With Nijmegen Breakage Syndrome Not yet recruiting NCT04400045 Phase 2 Treosulfan
29 Pharmacodynamics and Safety of Human Recombinant Luteinising Hormone in Hypogonadotropic Hypogonadal Men Not yet recruiting NCT04189133 Phase 2 Lutropin alfa;Human chorionic gonadotropin
30 Fecal Microbial Transplantation in Relapsing Multiple Sclerosis Patients Terminated NCT03183869 Phase 2 Fecal microbiota
31 Phase 1b Trial Evaluating the Safety of Volociximab in Combination With Carboplatin, Paclitaxel, and Bevacizumab in Subjects With Previously Untreated Stage IIIB/IV Non-Squamous Non-Small Cell Lung Cancer (NSCLC) Completed NCT00666692 Phase 1 M200 (Volociximab), Carboplatin, Paclitaxel, Bevacizumab
32 Mechanisms of Ozone-Induced Alterations in Efferocytosis and Phagocytosis Suspended NCT03646877 Phase 1 Ozone
33 Effect of NAC on Sleep Apnea Unknown status NCT00592618 Oral N-Acetylcysteine 1200 mg x 2/day for 4 weeks
34 Sleep-dependent Memory Consolidation in Children With Sleep Diseases Completed NCT02785328
35 Performance of the Hepatitis B Virus (HBV) ELISPOT in the Detection of the T Cellular Immune Response in Patients Infected by HBV or Cured Completed NCT02909023
36 Uncontrolled Lower Respiratory Symptoms in the World Trade Center Survivor Program Completed NCT02024204 Fluticasone propionate 230mcg for 3 Months;Current Treatment or no treatment;Salmeterol 21mcg for 3 Months
37 Physical Activity Advices to Prevent Loss of Autonomy in Cancer Treated Elderly Patients. An Intervention Randomized Study Completed NCT01432067
38 Effect of Probiotic Supplementation on Lactose Maldigestion Induced by Fat-free Milk: Randomized, Double-blind, Placebo-controlled, Crossover, Acute Lactose Challenge Completed NCT03659747
39 LDL-cholesterol Lowering Effect of a New Dietary Supplement. An Open-label, Controlled, Randomized, Cross-over Clinical Trial in Patients With Mild-to-moderate Hypercholesterolemia . Completed NCT03425630
40 Evaluation of the Effect of Pulsatile Cuts Stendo3 on Vascular Function Patients With Diabetes Type 2 Completed NCT02359461
41 Effects of a Combined Treatment With Myo-inositol, D-chiro-inositol and Glucomannan in Women With PCOS Completed NCT03608813
42 A Study of Life Expectancy in Patients With Metabolic Syndrome After Weight Loss: a Comparative Randomized Clinical Trial Completed NCT03667469
43 The Effect of Citrate Dialysate on Clot Formation and Anemia in Hemodialysis Patients Completed NCT03470727
44 Xience V at WFUBMC: Real World Outcomes Using Second Generation DES Completed NCT00937573
45 SMDC CRM-MRI Prospective Case Series Completed NCT01999751
46 Examining the Effect of Blood Flow Rate on Hemodialysis Urea Clearance Completed NCT02484118
47 Bitter Taste and Allele-specific Expression of the Human TAS2R38 Gene Completed NCT02766959
48 In Vivo Comparison of Genotoxic and Cytotoxic Effects of Different Brands of Toothpaste - Without and With Fluoride Completed NCT03325400
49 Applications of Nanotechnology and Chemical Sensors for the Detection and Identification of Multiple Sclerosis, In Comparison to Other Autoimmune and Neurological Diseases by Exhalation Samples Completed NCT01465087
50 Concussion in Rugby Players: a Pilot Study of Neural Recovery Using Functional Magnetic Resonance Imaging (fMRI) Recruiting NCT02988609

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 Ataxia-Telangiectasia Variant 29

Anatomical Context for Nijmegen Breakage Syndrome

MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

40
T Cells, Kidney, Lung, Brain, Testes, Eye, Breast

Publications for Nijmegen Breakage Syndrome

Articles related to Nijmegen Breakage Syndrome:

(show top 50) (show all 564)
# Title Authors PMID Year
1
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 54 61 24 56 6
16415040 2006
2
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. 61 24 56 6
16033915 2006
3
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome. 56 6 54 61
10852373 2000
4
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. 6 54 56 61
9590180 1998
5
A new chromosome instability disorder. 6 56 24
3802554 1986
6
Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. 54 61 56 24
15474156 2004
7
657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. 6 56 61
12123493 2002
8
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. 24 6 61
11279524 2001
9
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. 56 24 61
9590181 1998
10
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 56 61 24
2491181 1989
11
Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. 24 56 61
3248383 1988
12
A new chromosomal instability disorder: the Nijmegen breakage syndrome. 61 24 56
7315300 1981
13
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. 56 24
3857858 1985
14
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. 61 6
17103455 2007
15
Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. 56 61
16809669 2006
16
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 54 24 61
16088910 2005
17
The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. 54 24 61
15451479 2004
18
Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly. 54 24 61
15033202 2004
19
657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls. 6 61
12833396 2003
20
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. 24 61 54
12640452 2003
21
Genetic heterogeneity for a Nijmegen breakage-like syndrome. 56 61
12702161 2003
22
Interaction of FANCD2 and NBS1 in the DNA damage response. 6 61
12447395 2002
23
Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers. 6 61
12505263 2002
24
Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. 6 61
10398434 1999
25
Nijmegen Breakage Syndrome 61 6
20301355 1999
26
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. 56 61
9634525 1998
27
Positional cloning of the gene for Nijmegen breakage syndrome. 6 61
9620777 1998
28
Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24. 61 56
9199571 1997
29
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. 61 56
9132489 1997
30
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. 61 56
9042920 1997
31
Possible new variant of Nijmegen breakage syndrome. 56 61
8914736 1996
32
The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11. 56 61
8644753 1996
33
Nijmegen breakage syndrome. 56 61
8929954 1996
34
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. 61 56
7545870 1995
35
Further delineation of the Nijmegen breakage syndrome. 56 61
2786340 1989
36
A new chromosomal instability disorder confirmed by complementation studies. 61 56
3277755 1988
37
Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. 24 61
26826318 2016
38
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. 61 24
26271390 2015
39
Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome. 61 24
25523867 2015
40
Nijmegen breakage syndrome (NBS). 24 61
22373003 2012
41
Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome. 61 24
22533239 2012
42
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. 24 61
21923652 2011
43
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. 61 24
20597108 2010
44
High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. 61 24
20444919 2010
45
Successful SCT for Nijmegen breakage syndrome. 24 61
19684627 2010
46
Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients. 61 24
19908051 2010
47
High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany. 61 24
20453309 2010
48
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 61 24
19409520 2009
49
Fertility defects revealing germline biallelic nonsense NBN mutations. 24 61
19105185 2009
50
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). 61 24
18937313 2009

Variations for Nijmegen Breakage Syndrome

ClinVar genetic disease variations for Nijmegen Breakage Syndrome:

6 (show top 50) (show all 1140) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NBN NM_002485.4(NBN):c.1553C>G (p.Ser518Ter)SNV Pathogenic 411775 rs1060503480 8:90965764-90965764 8:89953536-89953536
2 NBN NM_001024688.2(NBN):c.-271deldeletion Pathogenic 411783 rs1060503485 8:90996764-90996764 8:89984536-89984536
3 NBN NC_000008.11:g.(?_89980734)_(89984671_?)deldeletion Pathogenic 417563 8:90992962-90996899 8:89980734-89984671
4 NBN NM_001024688.2(NBN):c.790_791GT[3] (p.Ser265fs)short repeat Pathogenic 411753 rs1554560432 8:90971037-90971038 8:89958809-89958810
5 NBN NM_002485.4(NBN):c.1854_1857del (p.Asn618fs)deletion Pathogenic 411754 rs1060503466 8:90960109-90960112 8:89947881-89947884
6 NBN NM_002485.4(NBN):c.1397+1deldeletion Pathogenic 411756 rs1060503467 8:90967510-90967510 8:89955282-89955282
7 NBN NM_002485.4(NBN):c.383T>G (p.Leu128Ter)SNV Pathogenic 411751 rs1060503463 8:90993059-90993059 8:89980831-89980831
8 NBN NM_002485.4(NBN):c.1647_1651del (p.Lys550fs)deletion Pathogenic 411776 rs766044684 8:90965666-90965670 8:89953438-89953442
9 NBN NM_002485.4(NBN):c.2083G>T (p.Gly695Ter)SNV Pathogenic 461538 rs1554555835 8:90955582-90955582 8:89943354-89943354
10 NBN NM_002485.4(NBN):c.1958dup (p.Leu654fs)duplication Pathogenic 461532 rs780235686 8:90958479-90958480 8:89946251-89946252
11 NBN NM_002485.4(NBN):c.836del (p.Gln279fs)deletion Pathogenic 461583 rs1554563878 8:90982652-90982652 8:89970424-89970424
12 NBN NM_002485.4(NBN):c.1377dup (p.Gln460fs)duplication Pathogenic 461506 rs1554559028 8:90967530-90967531 8:89955302-89955303
13 NBN NM_001024688.2(NBN):c.-21dupduplication Pathogenic 461551 rs1554568340 8:90993696-90993697 8:89981468-89981469
14 NBN NM_002485.4(NBN):c.1399G>T (p.Glu467Ter)SNV Pathogenic 481828 rs1554558613 8:90965918-90965918 8:89953690-89953690
15 NBN NM_002485.4(NBN):c.1171C>T (p.Gln391Ter)SNV Pathogenic 480063 rs1554559323 8:90967737-90967737 8:89955509-89955509
16 NBN NM_002485.4(NBN):c.445del (p.His149fs)deletion Pathogenic 480026 rs1554567892 8:90992997-90992997 8:89980769-89980769
17 NBN NM_001024688.2(NBN):c.345_357delinsTTG (p.Pro116fs)indel Pathogenic 481871 rs1554564297 8:90983500-90983512 8:89971272-89971284
18 NBN NM_002485.4(NBN):c.1648_1651del (p.Lys550fs)deletion Pathogenic 483999 rs766044684 8:90965666-90965669 8:89953438-89953441
19 NBN NM_001024688.2(NBN):c.-214_-208deldeletion Pathogenic 483951 rs1554569106 8:90995032-90995038 8:89982804-89982810
20 NBN NM_002485.4(NBN):c.917del (p.Pro306fs)deletion Pathogenic 483998 rs1554562185 8:90976715-90976715 8:89964487-89964487
21 NBN NM_002485.4(NBN):c.1336del (p.Ala446fs)deletion Pathogenic 481837 rs1554559083 8:90967572-90967572 8:89955344-89955344
22 NBN NM_002485.4(NBN):c.1396dup (p.Arg466fs)duplication Pathogenic 492093 rs1349928568 8:90967511-90967512 8:89955283-89955284
23 NBN NM_002485.4(NBN):c.1882_1885del (p.Glu628fs)deletion Pathogenic 492103 rs1178384498 8:90960081-90960084 8:89947853-89947856
24 NBN NM_002485.4(NBN):c.1366del (p.Arg456fs)deletion Pathogenic 492090 rs1554559038 8:90967542-90967542 8:89955314-89955314
25 NBN NM_002485.4(NBN):c.2188C>T (p.Gln730Ter)SNV Pathogenic 530714 rs1554554267 8:90949300-90949300 8:89937072-89937072
26 NBN NM_002485.4(NBN):c.377del (p.Thr126fs)deletion Pathogenic 530729 rs1554567972 8:90993065-90993065 8:89980837-89980837
27 NBN NM_002485.4(NBN):c.1154_1155del (p.Lys385fs)deletion Pathogenic 530740 rs748513310 8:90967753-90967754 8:89955525-89955526
28 NBN NM_002485.4(NBN):c.1654dup (p.Glu552fs)duplication Pathogenic 530754 rs760237820 8:90965662-90965663 8:89953434-89953435
29 NBN NM_002485.4(NBN):c.1750G>T (p.Glu584Ter)SNV Pathogenic 530738 rs1554558270 8:90965567-90965567 8:89953339-89953339
30 NBN NM_002485.4(NBN):c.496_512del (p.Ile166fs)deletion Pathogenic 530724 rs758830069 8:90990520-90990536 8:89978292-89978308
31 NBN NM_002485.4(NBN):c.60del (p.Gly21fs)deletion Pathogenic 545793 rs758708229 8:90995061-90995061 8:89982833-89982833
32 NBN NC_000008.11:g.(?_89921080)_(89984561_?)deldeletion Pathogenic 583872 8:90933308-90996789 8:89921080-89984561
33 NBN NM_002485.4(NBN):c.1737del (p.Val580fs)deletion Pathogenic 575328 rs1563525210 8:90965580-90965580 8:89953352-89953352
34 NBN NC_000008.11:g.(?_89935572)_(89984571_?)deldeletion Pathogenic 584293 8:90947800-90996799 8:89935572-89984571
35 NBN NM_002485.4(NBN):c.992_994+3deldeletion Pathogenic 581757 rs1563548315 8:90976635-90976640 8:89964407-89964412
36 NBN NM_002485.4(NBN):c.474del (p.Ile159fs)deletion Pathogenic 569322 rs1563578540 8:90992968-90992968 8:89980740-89980740
37 NBN NM_002485.4(NBN):c.1675dup (p.Glu559fs)duplication Pathogenic 577083 rs1563525678 8:90965641-90965642 8:89953413-89953414
38 NBN NM_002485.4(NBN):c.911del (p.Pro304fs)deletion Pathogenic 570010 rs1563549036 8:90976721-90976721 8:89964493-89964493
39 NBN NM_002485.4(NBN):c.468del (p.Val157fs)deletion Pathogenic 577077 rs1563578596 8:90992974-90992974 8:89980746-89980746
40 NBN NM_002485.4(NBN):c.1526dup (p.Ser509_Glu510insTer)duplication Pathogenic 566863 rs1563526747 8:90965790-90965791 8:89953562-89953563
41 NBN NM_002485.4(NBN):c.1769del (p.Arg590fs)deletion Pathogenic 572817 rs1563525004 8:90965548-90965548 8:89953320-89953320
42 NBN NM_002485.4(NBN):c.872dup (p.Ser292fs)duplication Pathogenic 576309 rs1563559078 8:90982615-90982616 8:89970387-89970388
43 NBN NM_002485.4(NBN):c.222T>G (p.Tyr74Ter)SNV Pathogenic 574500 rs1563581193 8:90993701-90993701 8:89981473-89981473
44 NBN NM_002485.4(NBN):c.1155dup (p.Val386fs)duplication Pathogenic 630220 rs748513310 8:90967752-90967753 8:89955524-89955525
45 NBN NM_002485.4(NBN):c.676del (p.Thr226fs)deletion Pathogenic 580755 rs1563561558 8:90983427-90983427 8:89971199-89971199
46 NBN NM_002485.5(NBN):c.1697dup (p.Leu566fs)duplication Pathogenic 658743 8:90965619-90965620 8:89953391-89953392
47 NBN NM_002485.4(NBN):c.1693C>T (p.Gln565Ter)SNV Pathogenic 639322 8:90965624-90965624 8:89953396-89953396
48 NBN NM_002485.5(NBN):c.1332dup (p.Arg445Ter)duplication Pathogenic 660286 8:90967575-90967576 8:89955347-89955348
49 NBN NM_002485.4(NBN):c.1327A>T (p.Lys443Ter)SNV Pathogenic 645490 8:90967581-90967581 8:89955353-89955353
50 NBN NM_002485.4(NBN):c.1253C>A (p.Ser418Ter)SNV Pathogenic 661854 8:90967655-90967655 8:89955427-89955427

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
13.86 WRN TP53 RAD50 NBN MRE11 MDC1
2
Show member pathways
13.57 WRN TP53 TERF2 SMC1A RAD51 RAD50
3
Show member pathways
13.21 TP53 TERF2 RAD50 NBN MRE11 H2AX
4
Show member pathways
13.14 WRN TP53 RAD50 NBN MRE11 MDC1
5
Show member pathways
13.1 TP53 RAD51 RAD50 NBN MRE11 MDC1
6
Show member pathways
12.91 XRCC6 XRCC5 WRN TP53 RAD51 RAD50
7
Show member pathways
12.83 WRN TP53 RAD50 NBN MRE11 MDC1
8
Show member pathways
12.72 TERF2 SMC1A RAD51 RAD50 NBN MRE11
9
Show member pathways
12.68 XRCC6 XRCC5 TP53 RAD51 RAD50 NBN
10
Show member pathways
12.6 WRN TP53 SMC1A MDC1 BRCA1
11
Show member pathways
12.52 TP53 SMC1A RAD51 RAD50 NBN MRE11
12
Show member pathways
12.51 TP53 TERF2 RAD50 NBN MRE11 H2AX
13
Show member pathways
12.49 WRN RAD51 RAD50 NBN MRE11 BRCA1
14
Show member pathways
12.42 TP53 CHEK2 ATR ATM
15 12.42 TP53 SMC1A CHEK2 ATR ATM
16 12.37 TP53 RAD51 RAD50 MRE11 CHEK2 BRCA1
17
Show member pathways
12.36 XRCC6 XRCC5 TP53 RAD50 NHEJ1 NBN
18 12.34 TP53 RAD50 NBN MRE11 CHEK2 ATR
19 12.33 TP53 CHEK2 ATR ATM
20
Show member pathways
12.33 TP53 CHEK2 BRCA1 ATR ATM
21
Show member pathways
12.32 WRN RAD51 RAD50 NBN MRE11 BRCA1
22
Show member pathways
12.07 TP53 RAD51 RAD50 NBN MRE11 FANCD2
23 12.07 XRCC6 XRCC5 WRN TP53 TERF2 SMC1A
24
Show member pathways
12.04 TP53 SMC1A RAD51 RAD50 NBN MRE11
25 11.94 RAD51 FANCD2 BRCA1 ATR
26 11.93 XRCC6 XRCC5 WRN TERF2 RAD50 NBN
27 11.85 TP53 SMC1A CHEK2 BRCA1 ATM
28 11.79 SMC1A RAD50 NBN MRE11 MDC1 H2AX
29 11.77 TP53 SMC1A NBN MDC1 FANCD2 CHEK2
30 11.74 TP53 RAD50 MRE11 CHEK2 BRCA1 ATR
31
Show member pathways
11.73 TP53 CHEK2 ATM
32 11.73 TP53 BRCA1 ATM
33 11.73 TP53 CHEK2 ATR ATM
34 11.61 XRCC6 XRCC5 BRCA1
35 11.61 XRCC6 XRCC5 TP53 RAD51 RAD50 NBN
36
Show member pathways
11.6 TP53 CHEK2 ATR ATM
37 11.55 TP53 H2AX ATM
38 11.53 XRCC6 XRCC5 WRN RAD50 NBN MRE11
39 11.45 TP53 BRCA1 ATR ATM
40
Show member pathways
11.41 XRCC6 XRCC5 TERF2 RAD50 NBN MRE11
41 11.3 H2AX CHEK2 ATR ATM
42 11.21 TP53 BRCA1 ATR ATM
43
Show member pathways
11.13 RAD50 NBN MRE11 ATM
44 10.37 TP53 CHEK2

GO Terms for Nijmegen Breakage Syndrome

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.37 XRCC6 XRCC5 WRN TP53 TERF2 SMC1A
2 nucleolus GO:0005730 10.11 XRCC6 XRCC5 WRN TP53 NBN FANCD2
3 nuclear body GO:0016604 9.96 TP53 TERF2 MDC1 FANCD2 BRCA1
4 PML body GO:0016605 9.95 TP53 RAD51 NBN MRE11 CHEK2 ATR
5 nuclear chromosome, telomeric region GO:0000784 9.9 XRCC6 XRCC5 TERF2 RAD51 RAD50 NBN
6 condensed nuclear chromosome GO:0000794 9.89 SMC1A RAD51 RAD50 H2AX BRCA1
7 site of double-strand break GO:0035861 9.88 TP53 RAD51 RAD50 NBN MRE11 H2AX
8 chromosome, telomeric region GO:0000781 9.86 WRN TERF2 RAD50 NBN MRE11 H2AX
9 replication fork GO:0005657 9.83 WRN TP53 NBN MRE11 H2AX
10 condensed chromosome GO:0000793 9.81 RAD51 LIG4 FANCD2 BRCA1
11 chromosome GO:0005694 9.77 XRCC6 XRCC5 WRN TERF2 SMC1A RAD51
12 Mre11 complex GO:0030870 9.76 TERF2 RAD50 NBN MRE11
13 nonhomologous end joining complex GO:0070419 9.72 XRCC6 XRCC5 NHEJ1 LIG4 DCLRE1C
14 nuclear telomere cap complex GO:0000783 9.7 XRCC6 XRCC5 TERF2
15 nucleoplasm GO:0005654 9.62 XRCC6 XRCC5 WRN TP53 TERF2 SMC1A
16 lateral element GO:0000800 9.58 RAD51 BRCA1
17 Ku70:Ku80 complex GO:0043564 9.55 XRCC6 XRCC5
18 DNA ligase IV complex GO:0032807 9.54 NHEJ1 LIG4

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

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.27 TP53 TERF2 SMC1A RAD50 NBN MDC1
2 viral process GO:0016032 10.19 XRCC6 XRCC5 TP53 RAD50 NBN MRE11
3 DNA replication GO:0006260 10.11 WRN RAD50 NBN MRE11 LIG4 BRCA1
4 regulation of signal transduction by p53 class mediator GO:1901796 10.09 WRN TP53 RAD50 NBN MRE11 CHEK2
5 DNA recombination GO:0006310 10.07 XRCC6 XRCC5 WRN RAD51 RAD50 MRE11
6 meiotic cell cycle GO:0051321 10.06 SMC1A RAD51 RAD50 NBN MRE11 H2AX
7 double-strand break repair via homologous recombination GO:0000724 10.06 WRN RAD51 RAD50 NBN MRE11 H2AX
8 cellular response to gamma radiation GO:0071480 10.06 XRCC6 XRCC5 WRN TP53 RAD51 H2AX
9 response to drug GO:0042493 10.04 XRCC5 TP53 RAD51 ATR
10 brain development GO:0007420 10.04 XRCC6 XRCC5 WRN ATM
11 regulation of apoptotic process GO:0042981 10.03 WRN TP53 BRCA1 ATM
12 double-strand break repair via nonhomologous end joining GO:0006303 10.03 XRCC6 XRCC5 RAD50 NHEJ1 NBN MRE11
13 DNA duplex unwinding GO:0032508 10.02 XRCC6 XRCC5 WRN RAD50 NBN MRE11
14 response to ionizing radiation GO:0010212 10.02 RAD51 NHEJ1 LIG4 H2AX DCLRE1C BRCA1
15 telomere maintenance GO:0000723 10.02 XRCC6 XRCC5 WRN TERF2 RAD50 NBN
16 cell proliferation GO:0008283 10 XRCC5 NBN MRE11 LIG4
17 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.99 WRN RAD50 MRE11 DCLRE1C
18 DNA damage checkpoint GO:0000077 9.97 NBN H2AX CHEK2 ATR ATM
19 chromosome organization GO:0051276 9.96 TP53 SMC1A MRE11 LIG4 DCLRE1C
20 interstrand cross-link repair GO:0036297 9.93 RAD51 FANCD2 DCLRE1C ATR
21 double-strand break repair GO:0006302 9.93 XRCC5 WRN TP53 RAD50 NHEJ1 NBN
22 DNA double-strand break processing GO:0000729 9.92 RAD50 NBN MRE11 BRCA1 ATM
23 reciprocal meiotic recombination GO:0007131 9.91 RAD51 RAD50 MRE11 ATM
24 DNA repair GO:0006281 9.91 XRCC6 XRCC5 WRN SMC1A RAD51 RAD50
25 positive regulation of kinase activity GO:0033674 9.9 RAD50 NBN MRE11
26 response to gamma radiation GO:0010332 9.9 TP53 LIG4 FANCD2 CHEK2
27 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.89 TP53 CHEK2 ATM
28 positive regulation of type I interferon production GO:0032481 9.88 XRCC6 XRCC5 MRE11
29 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.88 CHEK2 BRCA1 ATM
30 replicative senescence GO:0090399 9.88 TP53 CHEK2 ATR ATM
31 neuron apoptotic process GO:0051402 9.87 TP53 LIG4 ATM
32 cellular response to ionizing radiation GO:0071479 9.87 TP53 RAD51 LIG4
33 positive regulation of telomere maintenance via telomerase GO:0032212 9.85 XRCC5 ATR ATM
34 telomere capping GO:0016233 9.85 TERF2 RAD50 NBN
35 positive regulation of protein autophosphorylation GO:0031954 9.84 RAD50 NBN MRE11
36 negative regulation of telomere capping GO:1904354 9.84 TERF2 RAD50 NBN ATM
37 response to X-ray GO:0010165 9.83 TP53 RAD51 LIG4
38 intra-S DNA damage checkpoint GO:0031573 9.83 MRE11 MDC1 FANCD2
39 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.83 TP53 CHEK2 BRCA1
40 protein localization to chromosome, telomeric region GO:0070198 9.82 XRCC5 TERF2 ATR
41 V(D)J recombination GO:0033151 9.81 LIG4 DCLRE1C ATM
42 cellular response to X-ray GO:0071481 9.8 XRCC6 XRCC5 ATM
43 positive regulation of telomere maintenance GO:0032206 9.8 RAD50 NBN MRE11
44 establishment of integrated proviral latency GO:0075713 9.79 XRCC6 XRCC5 LIG4
45 chromosome organization involved in meiotic cell cycle GO:0070192 9.79 RAD51 RAD50 ATM
46 telomeric 3' overhang formation GO:0031860 9.77 RAD50 NBN MRE11
47 isotype switching GO:0045190 9.74 NBN LIG4
48 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.74 TP53 NBN
49 DNA unwinding involved in DNA replication GO:0006268 9.74 WRN RAD51
50 hematopoietic stem cell differentiation GO:0060218 9.74 XRCC5 TP53

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.4 XRCC6 XRCC5 WRN TP53 TERF2 SMC1A
2 nucleotide binding GO:0000166 10.16 XRCC6 XRCC5 WRN SMC1A RAD51 RAD50
3 identical protein binding GO:0042802 10.14 TP53 RAD51 RAD50 MRE11 MDC1 CHEK2
4 ATP binding GO:0005524 10.11 XRCC6 XRCC5 WRN TP53 SMC1A RAD51
5 DNA binding GO:0003677 10 XRCC6 XRCC5 WRN TP53 TERF2 RAD51
6 protein-containing complex binding GO:0044877 9.97 XRCC6 XRCC5 WRN TERF2 ATM
7 enzyme binding GO:0019899 9.96 TP53 TERF2 RAD51 H2AX BRCA1
8 transcription regulatory region sequence-specific DNA binding GO:0000976 9.92 XRCC6 XRCC5 TP53 BRCA1
9 ubiquitin protein ligase binding GO:0031625 9.91 XRCC5 TP53 CHEK2 BRCA1
10 transcription regulatory region DNA binding GO:0044212 9.9 XRCC6 XRCC5 TP53 BRCA1
11 protein C-terminus binding GO:0008022 9.87 XRCC6 XRCC5 TERF2 RAD51 MRE11 MDC1
12 double-stranded DNA binding GO:0003690 9.83 XRCC6 XRCC5 RAD51 MRE11
13 protein N-terminus binding GO:0047485 9.8 TP53 NBN ATM
14 exonuclease activity GO:0004527 9.74 WRN MRE11 DCLRE1C
15 telomeric DNA binding GO:0042162 9.67 XRCC6 XRCC5 TERF2
16 3'-5' exonuclease activity GO:0008408 9.65 WRN RAD50 MRE11
17 5'-3' exonuclease activity GO:0008409 9.61 MRE11 DCLRE1C
18 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.61 RAD50 MRE11 DCLRE1C
19 G-quadruplex DNA binding GO:0051880 9.59 WRN RAD50
20 MutLalpha complex binding GO:0032405 9.58 WRN ATR
21 double-stranded telomeric DNA binding GO:0003691 9.56 XRCC6 XRCC5 TERF2 RAD50
22 5'-deoxyribose-5-phosphate lyase activity GO:0051575 9.55 XRCC6 XRCC5
23 DNA end binding GO:0045027 9.51 XRCC5 NHEJ1
24 DNA helicase activity GO:0003678 9.43 XRCC6 XRCC5 WRN RAD50 NBN MRE11
25 damaged DNA binding GO:0003684 9.1 XRCC6 XRCC5 NBN H2AX DCLRE1C BRCA1

Sources for Nijmegen Breakage Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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