NBS
MCID: NJM001
MIFTS: 75

Nijmegen Breakage Syndrome (NBS)

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

Aliases & Classifications for Nijmegen Breakage Syndrome

MalaCards integrated aliases for Nijmegen Breakage Syndrome:

Name: Nijmegen Breakage Syndrome 57 12 73 25 20 43 58 72 13 54 44 15 70
Berlin Breakage Syndrome 12 73 20 43 58
Microcephaly, Normal Intelligence and Immunodeficiency 12 43 29 6
Ataxia-Telangiectasia Variant 12 58 29 6
Nbs 57 12 58 72
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome 12 58
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome 12 58
Ataxia-Telangiectasia Variant V1 57 20
Seemanova Syndrome Type 2 12 58
Seemanova Syndrome Ii 57 12
Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies 57
Microcephaly with Normal Intelligence Immunodeficiency and Lymphoreticular Malignancies 20
Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence 57
Nonsyndromal Microcephaly Autosomal Recessive with Normal Intelligence 20
Immunodeficiency, Microcephaly, and Chromosomal Instability 57
Microcephaly Immunodeficiency Lymphoreticuloma 20
Ataxia-Telangiectasia Variant V1; at-V1 57
Ataxia Telangiectasia Variant V1 73
Ataxia-Telangiectasia, Variant 1 58
Ataxia-Telangiectasia Variant 1 43
Syndrome, Nijmegen Breakage 39
Seemanova Syndrome 2 20
Seemanova Syndrome 43
at-V1 57
at V1 58
V-at 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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

GARD : 20 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.

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 Eplerenone and Amlodipine have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and lung, and related phenotypes are short neck and depressed nasal bridge

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.

MedlinePlus Genetics : 43 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® : 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Nijmegen breakage syndrome: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.

Wikipedia : 73 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 203)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome-like disorder 33.4 TH2LCRR TH2-LCR RAD50 MRE11
2 lig4 syndrome 32.0 XRCC6 XRCC5 NHEJ1 NBN MDC1 LIG4
3 telangiectasis 31.8 NBN CHEK2 ATM
4 combined immunodeficiency 31.2 XRCC6 XRCC5 NHEJ1 LIG4 ATM
5 microcephaly 31.1 XRCC6 XRCC5 TP53 RAD51 RAD50 NHEJ1
6 severe combined immunodeficiency 31.1 XRCC6 XRCC5 NHEJ1 LIG4
7 ataxia-telangiectasia-like disorder 1 30.9 NBN MRE11
8 ataxia-telangiectasia 30.9 XRCC5 TP53 RAD50 NBN MRE11 MDC1
9 hereditary breast ovarian cancer syndrome 30.8 TP53 RAD51 RAD50 NBN MRE11 CHEK2
10 medulloblastoma 30.7 WRN TP53 RAD51 NBN LIG4 BRCA1
11 aplastic anemia 30.6 TP53 TERF2 RAD51 NBN BRCA1
12 premature menopause 30.3 TP53 NBN CHEK2 BRCA1 ATM
13 bloom syndrome 30.1 XRCC6 WRN TP53 TERF2 RAD51 H2AX
14 fanconi anemia, complementation group a 29.6 XRCC6 XRCC5 WRN TP53 RAD51 RAD50
15 ovarian cancer 29.5 TP53 RAD51 RAD50 NBN MRE11 CHEK2
16 nicolaides-baraitser syndrome 11.4
17 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.3
18 hoyeraal hreidarsson syndrome 11.2
19 duarte variant galactosemia 11.1
20 ataxia and polyneuropathy, adult-onset 10.9
21 autosomal recessive disease 10.9
22 lymphoma 10.6
23 lymphoma, hodgkin, classic 10.6
24 lymphoma, non-hodgkin, familial 10.6
25 breast-ovarian cancer, familial 1 10.5
26 ovarian cancer 1 10.5
27 tumor predisposition syndrome 10.5
28 cutaneous telangiectasia and cancer syndrome, familial 10.5
29 inherited cancer-predisposing syndrome 10.5
30 leukemia, acute lymphoblastic 10.5
31 vulvar intraepithelial neoplasia 10.4 TP53 H2AX
32 basaloid lung carcinoma 10.4 TP53 BRCA1
33 allergic disease 10.4
34 hypogonadism 10.4
35 b-cell lymphoma 10.4
36 maxillary sinus adenocarcinoma 10.4 TP53 ATM
37 synchronous bilateral breast carcinoma 10.4 TP53 BRCA1 ATM
38 riddle syndrome 10.4 MDC1 H2AX BRCA1
39 deficiency anemia 10.4
40 leukemia 10.4
41 rhabdomyosarcoma 10.4
42 premature aging 10.4
43 fallopian tube carcinoma 10.3 TP53 MRE11 BRCA1
44 female breast cancer 10.3 TP53 BRCA1 ATM
45 ovarian serous adenofibroma 10.3 TP53 BRCA1
46 rothmund-thomson syndrome, type 2 10.3 WRN RAD51 ATM
47 ovarian serous cystadenofibroma 10.3 TP53 BRCA1
48 fanconi anemia, complementation group j 10.3 WRN RAD51 BRCA1
49 ovarian carcinosarcoma 10.3 TP53 BRCA1
50 hutchinson-gilford progeria syndrome 10.3 WRN TP53 H2AX ATM

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 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
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 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
8 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
9 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
10 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
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 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
31 rhabdomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002859
32 glioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009733
33 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
34 freckling 58 31 occasional (7.5%) Occasional (29-5%) HP:0001480
35 cutaneous photosensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000992
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 intrauterine growth retardation 31 HP:0001511
46 premature ovarian insufficiency 31 HP:0008209
47 micrognathia 31 HP:0000347
48 hemolytic anemia 58 Very frequent (99-80%)
49 abnormality of the face 58 Very frequent (99-80%)
50 neoplasm 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
microcephaly
mastoiditis

Head And Neck Mouth:
cleft palate
cleft lip

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

Genitourinary Kidneys:
hydronephrosis
recurrent urinary tract infections

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

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)

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 (Updated 20-May-2021)

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.22 ATM CHEK2 LIG4 TP53
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.22 ATM ATR BRCA1 CHEK2 LIG4 MDC1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.22 ATM BRCA1 H2AX LIG4 MDC1 MRE11
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.06 ATR BRCA1 H2AX MDC1 MRE11 NBN
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.06 ATM ATR BRCA1 H2AX LIG4 MDC1
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.06 ATM ATR BRCA1 CHEK2 H2AX MDC1
7 Decreased homologous recombination repair frequency GR00151-A-1 10.02 BRCA1 RAD51
8 Decreased homologous recombination repair frequency GR00151-A-2 10.02 BRCA1 RAD51
9 Decreased homologous recombination repair frequency GR00236-A-1 10.02 BRCA1 RAD51
10 Decreased homologous recombination repair frequency GR00236-A-2 10.02 BRCA1 RAD51
11 Decreased homologous recombination repair frequency GR00236-A-3 10.02 BRCA1 RAD51
12 Decreased viability with cisplatin GR00101-A-4 9.43 ATR BRCA1 RAD51
13 Synthetic lethal with cisplatin GR00101-A-1 9.13 ATR BRCA1 RAD51

MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.42 ATM ATR BRCA1 CHEK2 H2AX LIG4
2 endocrine/exocrine gland MP:0005379 10.3 ATM ATR BRCA1 CHEK2 H2AX LIG4
3 growth/size/body region MP:0005378 10.28 ATM ATR BRCA1 H2AX LIG4 MDC1
4 hematopoietic system MP:0005397 10.28 ATM ATR BRCA1 CHEK2 H2AX LIG4
5 immune system MP:0005387 10.2 ATM ATR BRCA1 CHEK2 H2AX LIG4
6 homeostasis/metabolism MP:0005376 10.18 ATM ATR BRCA1 CHEK2 H2AX LIG4
7 mortality/aging MP:0010768 10.16 ATM ATR BRCA1 CHEK2 H2AX LIG4
8 embryo MP:0005380 10.13 ATM ATR BRCA1 MRE11 NBN NHEJ1
9 neoplasm MP:0002006 10 ATM ATR BRCA1 CHEK2 H2AX LIG4
10 nervous system MP:0003631 9.73 ATM ATR BRCA1 CHEK2 LIG4 MRE11
11 reproductive system MP:0005389 9.47 ATM ATR BRCA1 CHEK2 H2AX LIG4

Drugs & Therapeutics for Nijmegen Breakage Syndrome

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

(show top 50) (show all 738)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 150310 443872
2
Amlodipine Approved Phase 4 88150-42-9 2162
3
Indapamide Approved Phase 4 26807-65-8 3702
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5 Hops Approved Phase 4
6
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8
Empagliflozin Approved Phase 4 864070-44-0
9
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
10
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
11
lanreotide Approved Phase 4 108736-35-2
12
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
13
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
14
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
15
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
16
Paclitaxel Approved, Vet_approved Phase 4 33069-62-4 36314
17
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
18
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
19
Ranibizumab Approved Phase 4 347396-82-1 459903
20
Metformin Approved Phase 4 657-24-9 14219 4091
21
Doxazosin Approved Phase 4 74191-85-8 3157
22
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
23
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
24
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
25
Cycloserine Approved Phase 4 68-41-7 401 6234
26
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
27
Mycophenolic acid Approved Phase 4 24280-93-1 446541
28
Cobicistat Approved Phase 4 1004316-88-4
29
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
30
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
31
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
32
Indian frankincense Approved, Experimental, Investigational Phase 4
33
Povidone-iodine Approved Phase 4 25655-41-8
34
Iodine Approved, Investigational Phase 4 7553-56-2 807
35
Acetaminophen Approved Phase 4 103-90-2 1983
36
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
37
Tapentadol Approved Phase 4 175591-23-8 9838022
38
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
39
Morphine Approved, Investigational Phase 4 57-27-2 5288826
40
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
41
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
42
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
43
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
44
Trastuzumab Approved, Investigational Phase 4 180288-69-1 9903
45
Evolocumab Approved Phase 4 1256937-27-5
46
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
47
Procainamide Approved Phase 4 51-06-9 4913
48
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
49
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
50
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030

Interventional clinical trials:

(show top 50) (show all 1160)
# Name Status NCT ID Phase Drugs
1 The Effect of Scalp Block on Surgical Pleth Index(SPI) During a Mayfield Head-holder Insertion in Neurosurgery : a Randomized Control Trial Unknown status NCT02916264 Phase 4
2 HYpertension Therapy With Valsartan Versus EpleRenone for Obese Patients: A Randomized Clinical Trial Unknown status NCT03476616 Phase 4 Eplerenone (-based therapy) arm;Valsartan (-based therapy) arm
3 CERAMENTTM|G and V in the Management of Hip and Knee Arthroplasty Revisions (Revision Arthroplasty Italy) Unknown status NCT03389646 Phase 4
4 Safety and Immune Response to Adjuvanted A(H1N1)v Influenza Vaccine in HIV-1 Infected and Immunosuppressed Adults Unknown status NCT01017172 Phase 4
5 Cost Effectiveness and Clinical Outcomes of Wound Closure Using V-Loc™ 90 Sutures. Unknown status NCT01574378 Phase 4
6 Prospective Randomized Trial On Radiation Dose Estimates Of CT Angiography In Patients Applying Iterative Image Reconstruction Techniques - The PROTECTION V Study - Unknown status NCT01453712 Phase 4
7 RIBS V (Restenosis Intra-stent of Bare Metal Stents: Paclitaxel-eluting Balloon vs Everolimus-eluting Stent). A Prospective, Multicenter and Randomized Clinical Trial Unknown status NCT01239953 Phase 4
8 Study of Immune Responses After Vaccination Against Seasonal Influenza Virus and Against Influenza H1N1-v Pandemic Virus in a Clinical Staff (FLU-HOP) Unknown status NCT01063608 Phase 4
9 Comparison of the Everolimus Eluting (XIENCE-V® or PROMUS® Stent) With the Biolimus A9 Eluting NOBORI® Stent in All-comers: a Randomized Open Label Study The COMPARE II Trial Imaging and Vasomotion Substudy Unknown status NCT01329237 Phase 4
10 Comparison of the Everolimus Eluting (XIENCE-V®, XIENCE-Prime® or PROMUS® Stent) With the Biolimus A9 Eluting NOBORI® Stent in All-comers: a Randomized Open Label Study Unknown status NCT01233453 Phase 4
11 Clinical Study to Compare Various Dosing and Titration Guidelines of Insulin Delivered Via V-Go ® in Patients With Type 2 Diabetes Initiating Basal Bolus Therapy in Primary Care Offices (Short Title: TITRATE) Unknown status NCT02361489 Phase 4
12 A Prospective Randomised Controlled Trial of Management of Recurrent Nosebleeds in Children: Antiseptic Cream Alone v's Antiseptic Cream With Nasal Cautery Unknown status NCT00390663 Phase 4
13 Philadelphia -Negative High-risk Children Acute Lymphoblastic Leukemia(ALL) Treatment:Induction Therapy:Vincristine(V),Idarubicin(I),L-asparaginase(L),Dexamethasone(D);Consolidation:V+Daunorubicin(D)+L+D, Methotrexate,Cytarabine Unknown status NCT01990807 Phase 4 Idarubicin(IDA)
14 Ketamine v. Ketorolac for Management of Generalized Tension Type Headache Unknown status NCT03221569 Phase 4 Intravenous ketamine;Ketorolac;Normal saline;Normal saline
15 TITANIC-XV Trial: Prospective, Multicenter and Randomized Trial (Bioactive Bare Metal Titanium Stent Versus Everolimus Drug Eluting Stent) Unknown status NCT01510509 Phase 4
16 Randomized Comparison of Zotarolimus- and Everolimus-Eluting Stents for Coronary Treatment Unknown status NCT00768846 Phase 4
17 Prospective, Single-blinded, Randomized Comparison of the Clinical and Angiographic Results With Intravascular Analysis of EverolimuS-Eluting Versus ZoTarolimus-Eluting steNTs for In-Stent Restenosis(ISR) Lesions: Volumetric Analysis With Intravascular Ultrasound(IVUS) : Phase IV Multicenter Trial ( RESTENT-ISR Trial ) Unknown status NCT01365572 Phase 4
18 The Effect of a Circuit Resistance Training, Empagliflozin or "Vegeterranean Diet" on Physical and Metabolic Function in Elderly Subjects With Type 2 Diabetes: a Study Protocol for a Randomized Control Trial (CEV-65 Trial) Unknown status NCT03560375 Phase 4 Empagliflozin 10 MG
19 The Beneficial Role of Percutaneous Coronary Intervention Over Optimal Medical Therapy in Elderly Patients (Age > 75 Years Old) With Coronary Artery Disease: a Randomized Controlled Study Unknown status NCT01508663 Phase 4 ARB, CCB, ACE-inhibitor, statin, Nitrate, Antiplate etc.
20 A 16 Week Multi-center, Randomized, Double-blind Study to Evaluate Efficacy and Safety of Valsartan/Hydrochlorothiazide (HCTZ) Combination Therapy Compared to Patients Initiated With Valsartan Monotherapy or Hydrochlorothiazide (HCTZ) Monotherapy in Very Elderly Patients With Essential Hypertension Completed NCT00698646 Phase 4 Valsartan + HCTZ;Valsartan;HCTZ
21 Measles Vaccination in Guinea-Bissau. Strategies to Reduce Disease Burden and Improve Child Survival Completed NCT00168558 Phase 4
22 The Effects of Different Vasopressors on the Innate Immune Response During Experimental Human Endotoxemia, a Pilot Proof-of-principle Study Completed NCT02675868 Phase 4 Norepinephrine;Phenylephrine;Vasopressins;Placebo
23 A Multicenter, Open, Prospective, Observational Study to Investigate the Effect of Lanreotide Autogel 120 mg on Control of GH and IGF-I Excess and Tumor Shrinkage in Newly Diagnosed Patients With Acromegaly Completed NCT00627796 Phase 4 Lanreotide-Autogel 120 mg
24 Search for the Measles Vaccine Virus Excretion in Breast Milk of Breastfeeding Women After Postpartum Vaccination With a Combined Measles-mumps-rubella (MMR) Vaccine Completed NCT02325310 Phase 4
25 Prospective Evaluation of the Xience V Everolimus-Eluting Stent In Saphenous Vein Graft Atherosclerosis: The Stenting Of Saphenous Vein Grafts Xience V Angiographic Study (SOS-Xience V) Completed NCT00911976 Phase 4
26 Hemodynamic Stability During Carotid Endarterectomy Under General Anesthesia in Elderly Patients: Comparison LENOXe™ (xénon 100% v/v) Versus SEVOFLURANE Completed NCT00937807 Phase 4 xenon;sévoflurane
27 SPIRIT V: A Clinical Evaluation of the XIENCE V® Everolimus Eluting Coronary Stent System in the Treatment of Patients With de Novo Coronary Artery Lesions Completed NCT01171820 Phase 4
28 XIENCE V® Everolimus Eluting Coronary Stent System USA Post- Approval Study (XIENCE V® USA DAPT Cohort) (XVU-AV DAPT) Completed NCT01106534 Phase 4 placebo + aspirin;clopidogrel + aspirin OR prasugrel + aspirin
29 EXecutive Randomized Controlled Trial (RCT): XIENCE V® Everolimus Eluting Coronary Stent System (XIENCE V® EECSS) in the Treatment of the Specific Setting of Patients With Multi-vessel Coronary Artery Disease. Completed NCT00531011 Phase 4
30 SPIRIT V: A Clinical Evaluation of the XIENCE V® Everolimus Eluting Coronary Stent System in the Treatment of Patients With de Novo Coronary Artery Lesions Completed NCT00402272 Phase 4
31 A Multi-center, Open-Label, Randomized, Active-controlled, Parallel, Phase 4 Clinical Trial to Assess the Efficacy and Safety of Sevofran in Patients Scheduled for Elective Surgery Under General Anesthesia Completed NCT01096212 Phase 4 original sevoflurane;generic sevoflurane
32 Effect of Drop-less Surgery Compared to Topical NSAID Alone and Combination of Steroid and NSAID on Central Macular Thickness After Cataract Surgery, a Randomized Controlled Trial Completed NCT03383328 Phase 4 NSAID + prednisolone, preoperative;NSAID + prednisolone, postoperative;NSAID, preoperative;NSAID, postoperative;Drop-less surgery
33 A Clinical Evaluation of the XIENCE Everolimus Eluting Coronary Stent System in the Treatment of Women With de Novo Coronary Artery Lesions Completed NCT01182428 Phase 4
34 Modulation of Immune Function by Parenteral Fish Oil in Patients With Crohn's Disease and High Inherent Tumor Necrosis Factor-alpha Production: a Randomized, Single Blinded, Cross-over Study Completed NCT02349594 Phase 4 Omegaven 10%;Intralipid 20%
35 Clinical Study to Evaluate the Efficacy of Chlorhexidine Mouthwashes Completed NCT01751178 Phase 4 Chlorhexidine Digluconate Mouthwash with Alcohol;Chlorhexidine Digluconate Mouthwash without Alcohol
36 A Phase IV, Open Label Study to Evaluate the Short and Long Term Immune Response and CROSS-protection After Vaccination With viroSOME Adjuvanted Inflexal V in Elderly Subjects Completed NCT01457027 Phase 4
37 Antimuscarinics as the First-line Treatment for Male With International Prostate Symptom Score (IPSS) Voiding-to-storage Subscore Rati (IPSS-V/S)≤1-- A Prospective Randomized Study Comparing With α-blockers Completed NCT01661621 Phase 4 Detrusitol 4 mg QD;Doxazosin 4 mg QD
38 Randomized Evaluation of the Use of Plastic Bags to Prevent Neonatal Hypothermia in Developing Countries-Part V Completed NCT01604460 Phase 4
39 The Real-World Endeavor Resolute Versus XIENCE V Drug-Eluting SteNt Study: Head-to-head Comparison of Clinical Outcome After Implantation of Second Generation Drug-eluting Stents in a Real World Scenario Completed NCT01066650 Phase 4
40 An Open Randomised Trial of Ceftriaxone v Penicillin and Gentamicin in Infant Severe Sepsis and Bacterial Meningitis in Malawi Completed NCT01247909 Phase 4 Ceftriaxone v penicillin and gentamicin
41 XIENCE V Everolimus Eluting Coronary Stent System (EECSS) China: Post-Approval Randomized Control Trial (RCT) Completed NCT01178268 Phase 4
42 Pilot Study to Assess the Role of Immune Activation and Apoptosis as a Marker for Treatment Intensification With Raltegravir in Hiv-infected Patients on Antiretroviral Therapy With Long-term Viral Suppression and Unfavourable Immunologic Response (Discordant Patients: v+i-) Completed NCT00773708 Phase 4 raltegravir
43 Intracoronary Brachytherapy for Recurrent Restenosis After Multiple Drug-Eluting Stents. Short Title: Scripps V Completed NCT00714545 Phase 4
44 Ultrasound Visualization v. Electrical Nerve Stimulation for the Safety and Effectiveness of Interscalene/Axillary Nerve Block in Upper Extremity Surgery: A Randomized Trial Completed NCT01010412 Phase 4
45 Effective Treatment of Posttraumatic and Postoperative Edema in Patients With Ankle- and Hindfoot Fractures. A Randomized Controlled Trial Comparing Multi-layer Compression Therapy and A-V Impulse Compression to the Standard Treatment With Ice Completed NCT01389089 Phase 4
46 Thalidomide-Cyclophosphamide-Dexamethasone in Patients < 75 Years or Velcade-Melfalan-Prednisone (V-MP)/Thalidomide-Cyclophosphamide-Dexamethasone in Patients >75 Years, in Refractary or Relapsed Multiple Myeloma Completed NCT00652041 Phase 4 Bortezomib;Thalidomide;Bortezomib
47 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage IV and V Completed NCT00563121 Phase 4
48 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V. Completed NCT00500396 Phase 4
49 Oral v. Injection Naltrexone in Hospital: Comparative Effectiveness for Alcoholism Completed NCT02478489 Phase 4 Oral naltrexone (PO-NTX);Extended-release injectable naltrexone (XR-NTX)
50 Randomised, Comparative Trial in Parallel Groups and Blinded, to Compare Efficacy on Pain Following a Procedure for Injecting Sclerotherapeutic Foam Into the G.S V. Under Echography Control, Between Three Types of Medical Compression Hose Completed NCT01368159 Phase 4

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
Skin, Prostate, Lung, Bone, Breast, T Cells, Eye

Publications for Nijmegen Breakage Syndrome

Articles related to Nijmegen Breakage Syndrome:

(show top 50) (show all 602)
# Title Authors PMID Year
1
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 57 6 54 61 25
16415040 2006
2
Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. 61 54 6 57 25
15474156 2004
3
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. 61 6 57 25
16033915 2006
4
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome. 61 54 6 57
10852373 2000
5
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. 54 61 6 57
9590180 1998
6
A new chromosome instability disorder. 57 25 6
3802554 1986
7
The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. 54 25 61 6
15451479 2004
8
657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. 61 57 6
12123493 2002
9
High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. 25 6 61
20444919 2010
10
Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients. 25 6 61
19908051 2010
11
Fertility defects revealing germline biallelic nonsense NBN mutations. 6 61 25
19105185 2009
12
Nijmegen breakage syndrome diagnosed as Fanconi anaemia. 61 25 6
15593232 2005
13
Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. 61 25 6
15185344 2004
14
NBS1 is a prostate cancer susceptibility gene. 25 6 61
14973119 2004
15
Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome. 6 25 61
12621246 2003
16
Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. 6 25 61
11953735 2002
17
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. 61 25 6
11279524 2001
18
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. 57 25 61
9590181 1998
19
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 25 57 61
2491181 1989
20
Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. 61 57 25
3248383 1988
21
A new chromosomal instability disorder: the Nijmegen breakage syndrome. 25 57 61
7315300 1981
22
The importance of making ends meet: mutations in genes and altered expression of proteins of the MRN complex and cancer. 61 6 54
18606567 2008
23
The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex. 54 61 6
17429352 2007
24
Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. 25 6
15758953 2005
25
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. 6 61 54
12419185 2002
26
Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation. 61 54 6
10792024 2000
27
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. 25 57
3857858 1985
28
Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer. 6 61
27844240 2017
29
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). 61 6
25677497 2015
30
Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies. 61 6
24113799 2013
31
Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer. 61 6
22864661 2012
32
Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation. 61 6
22941933 2012
33
Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions. 6 61
22131123 2012
34
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition. 61 6
22293976 2012
35
Current evidence on the relationship between two polymorphisms in the NBS1 gene and breast cancer risk: a meta-analysis. 61 6
23317186 2012
36
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. 6 61
19635536 2009
37
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. 6 61
17103455 2007
38
Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. 57 61
16809669 2006
39
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. 61 6
16544999 2006
40
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 61 54 25
16088910 2005
41
NBS1 and its functional role in the DNA damage response. 61 6
15279770 2004
42
Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly. 54 25 61
15033202 2004
43
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
44
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. 25 54 61
12640452 2003
45
Genetic heterogeneity for a Nijmegen breakage-like syndrome. 57 61
12702161 2003
46
Interaction of FANCD2 and NBS1 in the DNA damage response. 61 6
12447395 2002
47
Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers. 61 6
12505263 2002
48
Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. 6 61
10799436 2000
49
Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. 61 6
10398434 1999
50
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. 57 61
9634525 1998

Variations for Nijmegen Breakage Syndrome

ClinVar genetic disease variations for Nijmegen Breakage Syndrome:

6 (show top 50) (show all 1444)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NBN NM_002485.4(NBN):c.836_839del (p.Gln279fs) Deletion Pathogenic 6942 rs864309668 GRCh37: 8:90982649-90982652
GRCh38: 8:89970421-89970424
2 NBN NM_001024688.2(NBN):c.596dup (p.Leu199fs) Duplication Pathogenic 6943 rs864309669 GRCh37: 8:90982645-90982646
GRCh38: 8:89970417-89970418
3 NBN NM_001024688.2(NBN):c.495_496dup (p.Glu166fs) Duplication Pathogenic 6949 rs864309670 GRCh37: 8:90982745-90982746
GRCh38: 8:89970517-89970518
4 NBN NM_002485.4(NBN):c.2165G>A (p.Trp722Ter) SNV Pathogenic 188259 rs786204181 GRCh37: 8:90955500-90955500
GRCh38: 8:89943272-89943272
5 NBN NM_001024688.2(NBN):c.452_455del (p.Lys151fs) Deletion Pathogenic 127878 rs587780100 GRCh37: 8:90983402-90983405
GRCh38: 8:89971174-89971177
6 NBN NM_002485.4(NBN):c.897-?_2184+?del Deletion Pathogenic 216087 GRCh37: 8:90955481-90976735
GRCh38: 8:89943253-89964507
7 NBN NM_002485.4(NBN):c.211_212insGA (p.Asn71fs) Insertion Pathogenic 216086 rs762664474 GRCh37: 8:90993711-90993712
GRCh38: 8:89981483-89981484
8 NBN NM_001024688.2(NBN):c.-182del Deletion Pathogenic 220399 rs864622511 GRCh37: 8:90995006-90995006
GRCh38: 8:89982778-89982778
9 NBN NM_002485.5(NBN):c.804_805GT[2] (p.Val270fs) Microsatellite Pathogenic 185833 rs786202490 GRCh37: 8:90982679-90982680
GRCh38: 8:89970451-89970452
10 NBN NM_002485.5(NBN):c.91_92TG[1] (p.Ala32fs) Microsatellite Pathogenic 219789 rs864622253 GRCh37: 8:90995027-90995028
GRCh38: 8:89982799-89982800
11 NBN NM_001024688.2(NBN):c.1173_1185dup (p.Cys396fs) Duplication Pathogenic 219993 rs864622333 GRCh37: 8:90965885-90965886
GRCh38: 8:89953657-89953658
12 NBN NM_001024688.2(NBN):c.-37_-36del Deletion Pathogenic 185838 rs786202494 GRCh37: 8:90993712-90993713
GRCh38: 8:89981484-89981485
13 NBN NM_001024688.2(NBN):c.-271del Deletion Pathogenic 411783 rs1060503485 GRCh37: 8:90996764-90996764
GRCh38: 8:89984536-89984536
14 NBN NM_002485.4(NBN):c.1647_1651del (p.Lys550fs) Deletion Pathogenic 411776 rs766044684 GRCh37: 8:90965666-90965670
GRCh38: 8:89953438-89953442
15 NBN NC_000008.11:g.(?_89980734)_(89984671_?)del Deletion Pathogenic 417563 GRCh37: 8:90992962-90996899
GRCh38: 8:89980734-89984671
16 NBN NM_002485.4(NBN):c.123del (p.Ser42fs) Deletion Pathogenic 141631 rs587781891 GRCh37: 8:90994998-90994998
GRCh38: 8:89982770-89982770
17 NBN NM_002485.4(NBN):c.383T>G (p.Leu128Ter) SNV Pathogenic 411751 rs1060503463 GRCh37: 8:90993059-90993059
GRCh38: 8:89980831-89980831
18 NBN NM_001024688.2(NBN):c.790_791GT[3] (p.Ser265fs) Microsatellite Pathogenic 411753 rs1554560432 GRCh37: 8:90971037-90971038
GRCh38: 8:89958809-89958810
19 NBN NM_002485.4(NBN):c.1716dup (p.Glu573fs) Duplication Pathogenic 411780 rs1060503483 GRCh37: 8:90965600-90965601
GRCh38: 8:89953372-89953373
20 NBN NM_002485.4(NBN):c.1397+1del Deletion Pathogenic 411756 rs1060503467 GRCh37: 8:90967510-90967510
GRCh38: 8:89955282-89955282
21 NBN NM_002485.4(NBN):c.1651dup (p.Arg551fs) Duplication Pathogenic 234246 rs766044684 GRCh37: 8:90965665-90965666
GRCh38: 8:89953437-89953438
22 NBN NM_002485.4(NBN):c.1553C>G (p.Ser518Ter) SNV Pathogenic 411775 rs1060503480 GRCh37: 8:90965764-90965764
GRCh38: 8:89953536-89953536
23 NBN NM_002485.4(NBN):c.1854_1857del (p.Asn618fs) Deletion Pathogenic 411754 rs1060503466 GRCh37: 8:90960109-90960112
GRCh38: 8:89947881-89947884
24 NBN NM_002485.4(NBN):c.1474C>T (p.Gln492Ter) SNV Pathogenic 141946 rs587782130 GRCh37: 8:90965843-90965843
GRCh38: 8:89953615-89953615
25 NBN NM_002485.4(NBN):c.836del (p.Gln279fs) Deletion Pathogenic 461583 rs1554563878 GRCh37: 8:90982652-90982652
GRCh38: 8:89970424-89970424
26 NBN NM_001024688.2(NBN):c.-21dup Duplication Pathogenic 461551 rs1554568340 GRCh37: 8:90993696-90993697
GRCh38: 8:89981468-89981469
27 NBN NM_002485.4(NBN):c.1377dup (p.Gln460fs) Duplication Pathogenic 461506 rs1554559028 GRCh37: 8:90967530-90967531
GRCh38: 8:89955302-89955303
28 NBN NM_002485.4(NBN):c.1958dup (p.Leu654fs) Duplication Pathogenic 461532 rs780235686 GRCh37: 8:90958479-90958480
GRCh38: 8:89946251-89946252
29 NBN NM_002485.4(NBN):c.2083G>T (p.Gly695Ter) SNV Pathogenic 461538 rs1554555835 GRCh37: 8:90955582-90955582
GRCh38: 8:89943354-89943354
30 NBN NM_001024688.2(NBN):c.-59del Deletion Pathogenic 232165 rs876659592 GRCh37: 8:90993735-90993735
GRCh38: 8:89981507-89981507
31 NBN NM_002485.4(NBN):c.2188C>T (p.Gln730Ter) SNV Pathogenic 530714 rs1554554267 GRCh37: 8:90949300-90949300
GRCh38: 8:89937072-89937072
32 NBN NM_002485.4(NBN):c.445del (p.His149fs) Deletion Pathogenic 480026 rs1554567892 GRCh37: 8:90992997-90992997
GRCh38: 8:89980769-89980769
33 NBN NM_002485.4(NBN):c.496_512del (p.Ile166fs) Deletion Pathogenic 530724 rs758830069 GRCh37: 8:90990520-90990536
GRCh38: 8:89978292-89978308
34 NBN NM_001024688.2(NBN):c.1237_1238delinsA (p.Pro413fs) Indel Pathogenic 186736 rs764884516 GRCh37: 8:90965833-90965834
GRCh38: 8:89953605-89953606
35 NBN NM_002485.4(NBN):c.377del (p.Thr126fs) Deletion Pathogenic 530729 rs1554567972 GRCh37: 8:90993065-90993065
GRCh38: 8:89980837-89980837
36 NBN NM_002485.4(NBN):c.1750G>T (p.Glu584Ter) SNV Pathogenic 530738 rs1554558270 GRCh37: 8:90965567-90965567
GRCh38: 8:89953339-89953339
37 NBN NM_002485.4(NBN):c.1648_1651del (p.Lys550fs) Deletion Pathogenic 483999 rs766044684 GRCh37: 8:90965666-90965669
GRCh38: 8:89953438-89953441
38 NBN NM_002485.4(NBN):c.1154_1155del (p.Lys385fs) Deletion Pathogenic 530740 rs748513310 GRCh37: 8:90967753-90967754
GRCh38: 8:89955525-89955526
39 NBN NM_002485.4(NBN):c.1654dup (p.Glu552fs) Duplication Pathogenic 530754 rs760237820 GRCh37: 8:90965662-90965663
GRCh38: 8:89953434-89953435
40 NBN NM_002485.4(NBN):c.1255_1258del (p.Asn419fs) Deletion Pathogenic 530753 rs1238152597 GRCh37: 8:90967650-90967653
GRCh38: 8:89955422-89955425
41 NBN NM_002485.4(NBN):c.1396dup (p.Arg466fs) Duplication Pathogenic 492093 rs1349928568 GRCh37: 8:90967511-90967512
GRCh38: 8:89955283-89955284
42 NBN NM_002485.4(NBN):c.1526dup (p.Ser509_Glu510insTer) Duplication Pathogenic 566863 rs1563526747 GRCh37: 8:90965790-90965791
GRCh38: 8:89953562-89953563
43 NBN NM_001024688.2(NBN):c.-158_-157GT[1] Microsatellite Pathogenic 545774 rs750375741 GRCh37: 8:90994979-90994980
GRCh38: 8:89982751-89982752
44 NBN NM_002485.4(NBN):c.474del (p.Ile159fs) Deletion Pathogenic 569322 rs1563578540 GRCh37: 8:90992968-90992968
GRCh38: 8:89980740-89980740
45 NBN NM_002485.4(NBN):c.1769del (p.Arg590fs) Deletion Pathogenic 572817 rs1563525004 GRCh37: 8:90965548-90965548
GRCh38: 8:89953320-89953320
46 NBN NM_002485.4(NBN):c.1171C>T (p.Gln391Ter) SNV Pathogenic 480063 rs1554559323 GRCh37: 8:90967737-90967737
GRCh38: 8:89955509-89955509
47 NBN NM_002485.4(NBN):c.911del (p.Pro304fs) Deletion Pathogenic 570010 rs1563549036 GRCh37: 8:90976721-90976721
GRCh38: 8:89964493-89964493
48 NBN NM_002485.4(NBN):c.222T>G (p.Tyr74Ter) SNV Pathogenic 574500 rs1563581193 GRCh37: 8:90993701-90993701
GRCh38: 8:89981473-89981473
49 NBN NM_002485.4(NBN):c.1737del (p.Val580fs) Deletion Pathogenic 575328 rs1563525210 GRCh37: 8:90965580-90965580
GRCh38: 8:89953352-89953352
50 NBN NM_002485.4(NBN):c.872dup (p.Ser292fs) Duplication Pathogenic 576309 rs1563559078 GRCh37: 8:90982615-90982616
GRCh38: 8:89970387-89970388

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 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 WRN TP53 RAD50 NBN MRE11 MDC1
2
Show member pathways
13.56 WRN TP53 TERF2 RAD51 RAD50 NBN
3
Show member pathways
13.2 TP53 TERF2 RAD50 NBN MRE11 H2AX
4
Show member pathways
13.11 WRN TP53 RAD50 NBN MRE11 MDC1
5
Show member pathways
12.87 TP53 RAD51 RAD50 NBN MRE11 MDC1
6
Show member pathways
12.86 XRCC6 XRCC5 WRN TP53 RAD51 RAD50
7
Show member pathways
12.84 XRCC6 XRCC5 TP53 RAD51 RAD50 NBN
8
Show member pathways
12.82 WRN TP53 RAD50 NBN MRE11 MDC1
9
Show member pathways
12.68 TERF2 RAD51 RAD50 NBN MRE11 H2AX
10
Show member pathways
12.56 TP53 RAD51 RAD50 NBN MRE11 H2AX
11
Show member pathways
12.51 TP53 TERF2 RAD50 NBN MRE11 H2AX
12
Show member pathways
12.47 WRN RAD51 RAD50 NBN MRE11 BRCA1
13
Show member pathways
12.41 TP53 CHEK2 ATR ATM
14 12.35 TP53 CHEK2 ATR ATM
15 12.35 TP53 RAD51 RAD50 MRE11 CHEK2