MCID: NJM001
MIFTS: 66

Nijmegen Breakage Syndrome malady

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

Aliases & Classifications for Nijmegen Breakage Syndrome

About this section
Sources:
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Nijmegen Breakage Syndrome:

Name: Nijmegen Breakage Syndrome 51 11 23 47 24 25 53 69 12 49 38 13 67
Berlin Breakage Syndrome 11 23 47 24 25 53
Ataxia-Telangiectasia Variant 1 23 24 25
Nbs 53 69 2
Immunodeficiency, Microcephaly with Normal Intelligence 47 26
Microcephaly, Normal Intelligence and Immunodeficiency 11 25
Seemanova Syndrome 11 25
Microcephaly with Normal Intelligence Immunodeficiency and Lymphoreticular Malignancies 47
Nonsyndromal Microcephaly Autosomal Recessive with Normal Intelligence 47
 
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome 53
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome 53
Microcephaly Immunodeficiency Lymphoreticuloma 47
Ataxia-Telangiectasia Variant V1 47
Ataxia-Telangiectasia, Variant 1 53
Seemanova Syndrome Type 2 53
Seemanova Syndrome 2 47
at-V1 24
at V1 53

Characteristics:

Orphanet epidemiological data:

53
nijmegen breakage syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

63
nijmegen breakage syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 251260
Disease Ontology11 DOID:7400
MeSH38 D049932
NCIt44 C4692
Orphanet53 ORPHA647
SNOMED-CT61 234638009
MESH via Orphanet39 C531759, D049932
ICD10 via Orphanet30 Q87.8
UMLS via Orphanet68 C0398791, C2930831

Summaries for Nijmegen Breakage Syndrome

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OMIM:51 The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal... (251260) more...

MalaCards based summary: Nijmegen Breakage Syndrome, also known as berlin breakage syndrome, is related to nijmegen breakage syndrome-like disorder and neuroblastoma, and has symptoms including sinusitis, microcephaly and low anterior hairline. An important gene associated with Nijmegen Breakage Syndrome is NBN (Nibrin), and among its related pathways are TP53 network and Aurora A signaling. Affiliated tissues include t cells, b cells and thymus, and related mouse phenotypes are neoplasm and endocrine/exocrine gland.

UniProtKB/Swiss-Prot:69 Nijmegen breakage syndrome: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.

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.

Wikipedia:70 Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome, ataxia telangiectasia variant... more...

GeneReviews for NBK1176

Related Diseases for Nijmegen Breakage Syndrome

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Diseases in the Nijmegen Breakage Syndrome family:

Nijmegen Breakage Syndrome-Like Disorder

Diseases related to Nijmegen Breakage Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1nijmegen breakage syndrome-like disorder12.6
2neuroblastoma11.7
3leukemia, acute promyelocytic, somatic11.1
4nicolaides-baraitser syndrome10.9
5ataxia10.5
6ataxia-telangiectasia10.5
7lethal congenital contracture syndrome 710.4BRCA1, NBN
8leukemia10.3
9lymphoma10.3
10acral lentiginous melanoma10.3ATM, TP53
11amyloid tumor10.3ATM, BRCA1
12cervical serous adenocarcinoma10.3BRCA1, TP53
13hypersensitivity reaction type iv disease10.3NBN, TP53
14ovarian brenner tumor10.3BRCA1, TP53
15rectum mucinous adenocarcinoma10.2BRCA1, TP53
16liddle syndrome, scnn1g-related10.2CHEK2, TP53
17cholesteatoma of external ear10.2BRCA1, TP53
18breast cancer10.2
19lymphoblastic leukemia10.2
20microcephaly10.2
21clear cell acanthoma10.2ATM, TP53
22papillary adenofibroma10.2BRCA1, TP53
23leiomyosarcoma10.2BRCA1, TP53
24familial breast cancer10.2BRCA1, CHEK2
25janus kinase-3 deficiency10.1H2AFX, LIG4
26nodular lymphocyte predominant hodgkin lymphoma10.1ATM, CHEK2
27medulloblastoma10.1
28smoking as a quantitative trait locus 110.1ATM, NBN, TP53
29distal monosomy 9p10.1BRCA1, TP53
30stromal keratitis10.0H2AFX, TP53
31bile duct disease10.0ATM, BRCA1, TP53
32prostate cancer10.0
33hodgkin lymphoma10.0
34prostatitis10.0
35hidrocystoma10.0BRCA1, RAD50, TP53
36myasthenia gravis, limb-girdle10.0BRCA1, TP53
37breast cancer, childhood9.9BRCA1, CHEK2, NBN
38ductal carcinoma in situ9.9BRCA1, TP53
39internal auditory canal lipoma9.9ATM, BRCA1, CHEK2
40rheumatoid arthritis9.9
41hiv-19.9
42schizencephaly9.9
43hepatocellular carcinoma9.9
44aplastic anemia9.9
45insulin-like growth factor i9.9
46bloom syndrome9.9
47acute monocytic leukemia9.9
48arthritis9.9
49b-cell lymphomas9.9
50prolymphocytic leukemia9.9

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



Diseases related to nijmegen breakage syndrome

Symptoms for Nijmegen Breakage Syndrome

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Symptoms by clinical synopsis from OMIM:

251260

Clinical features from OMIM:

251260

Human phenotypes related to Nijmegen Breakage Syndrome:

 63 53 (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sinusitis63 hallmark (90%) HP:0000246
2 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
3 low anterior hairline63 53 hallmark (90%) Very frequent (99-80%) HP:0000294
4 sloping forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000340
5 micrognathia63 hallmark (90%) HP:0000347
6 hearing abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0000364
7 convex nasal ridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000444
8 short neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000470
9 upslanted palpebral fissure63 53 hallmark (90%) Very frequent (99-80%) HP:0000582
10 thrombocytopenia63 53 hallmark (90%) Very frequent (99-80%) HP:0001873
11 hemolytic anemia63 53 hallmark (90%) Very frequent (99-80%) HP:0001878
12 deep philtrum63 53 hallmark (90%) Very frequent (99-80%) HP:0002002
13 malabsorption63 hallmark (90%) HP:0002024
14 recurrent respiratory infections63 53 hallmark (90%) Very frequent (99-80%) HP:0002205
15 abnormality of chromosome stability63 53 hallmark (90%) Very frequent (99-80%) HP:0003220
16 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
17 decreased body weight63 hallmark (90%) HP:0004325
18 abnormal nasal morphology63 hallmark (90%) HP:0005105
19 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
20 attention deficit hyperactivity disorder63 53 hallmark (90%) Very frequent (99-80%) HP:0007018
21 abnormal immunoglobulin level63 hallmark (90%) HP:0010701
22 abnormality of the upper urinary tract63 hallmark (90%) HP:0010935
23 abnormal hair quantity63 53 hallmark (90%) Very frequent (99-80%) HP:0011362
24 cognitive impairment63 hallmark (90%) HP:0100543
25 urogenital fistula63 hallmark (90%) HP:0100589
26 aplasia/hypoplasia of the thymus63 typical (50%) HP:0010515
27 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
28 cutaneous photosensitivity63 53 occasional (7.5%) Occasional (29-5%) HP:0000992
29 muscle weakness63 53 occasional (7.5%) Occasional (29-5%) HP:0001324
30 freckling63 53 occasional (7.5%) Occasional (29-5%) HP:0001480
31 respiratory insufficiency63 occasional (7.5%) HP:0002093
32 abnormality of neuronal migration63 53 occasional (7.5%) Occasional (29-5%) HP:0002269
33 acute leukemia63 53 occasional (7.5%) Occasional (29-5%) HP:0002488
34 lymphoma63 53 occasional (7.5%) Occasional (29-5%) HP:0002665
35 medulloblastoma63 occasional (7.5%) HP:0002885
36 skeletal muscle atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0003202
37 glioma63 53 occasional (7.5%) Occasional (29-5%) HP:0009733
38 non-midline cleft lip63 53 occasional (7.5%) Occasional (29-5%) HP:0100335
39 recurrent urinary tract infections63 HP:0000010
40 hydronephrosis63 HP:0000126
41 cleft upper lip63 HP:0000204
42 mastoiditis63 HP:0000265
43 otitis media63 HP:0000388
44 macrotia63 53 Very frequent (99-80%) HP:0000400
45 choanal atresia63 HP:0000453
46 hyperactivity63 HP:0000752
47 cafe-au-lait spot63 HP:0000957
48 intellectual disability63 HP:0001249
49 intrauterine growth retardation63 HP:0001511
50 primary ovarian failure63 HP:0001587
51 autoimmune hemolytic anemia63 53 Very frequent (99-80%) HP:0001890
52 diarrhea63 HP:0002014
53 anal atresia63 53 Very frequent (99-80%) HP:0002023
54 anal stenosis63 53 Very frequent (99-80%) HP:0002025
55 bronchiectasis63 HP:0002110
56 neurodegeneration63 HP:0002180
57 recurrent bronchitis63 HP:0002837
58 rhabdomyosarcoma63 53 Occasional (29-5%) HP:0002859
59 dysgammaglobulinemia63 HP:0002961
60 long nose63 HP:0003189
61 recurrent infection of the gastrointestinal tract63 HP:0004798
62 t lymphocytopenia63 HP:0005403
63 progressive vitiligo63 HP:0005602
64 recurrent pneumonia63 53 Very frequent (99-80%) HP:0006532
65 malar prominence63 HP:0010620
66 b lymphocytopenia63 HP:0010976
67 abnormality of the face53 Very frequent (99-80%)
68 retrognathia53 Very frequent (99-80%)
69 prominent nasal bridge53 Very frequent (99-80%)
70 prominent nose53 Very frequent (99-80%)
71 abnormality of the eyelid53 Occasional (29-5%)
72 mental deterioration53 Very frequent (99-80%)
73 abnormality of the hair53 Very frequent (99-80%)
74 chronic diarrhea53 Very frequent (99-80%)
75 neoplasm53 Frequent (79-30%)
76 respiratory failure53 Occasional (29-5%)
77 abnormality of the musculature53 Occasional (29-5%)
78 cachexia53 Very frequent (99-80%)
79 recurrent sinopulmonary infections53 Very frequent (99-80%)
80 t-cell lymphoma53 Occasional (29-5%)
81 b-cell lymphoma53 Occasional (29-5%)
82 anorectal anomaly53 Very frequent (99-80%)
83 pollakisuria53 Frequent (79-30%)

Drugs & Therapeutics for Nijmegen Breakage Syndrome

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

(show top 50)    (show all 64)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Dexamethasoneapproved, investigational, vet_approvedPhase 4208450-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
2
RanibizumabapprovedPhase 4474347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
3Angiogenesis InhibitorsPhase 44143
4HIV Protease InhibitorsPhase 45319
5HormonesPhase 413979
6Peripheral Nervous System AgentsPhase 4, Phase 322776
7
protease inhibitorsPhase 45320
Synonyms:
 
protease inhibitors
8Pharmaceutical SolutionsPhase 4, Phase 37793
9glucocorticoidsPhase 44920
10Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
11Hormone AntagonistsPhase 412778
12Antineoplastic Agents, HormonalPhase 4, Phase 35407
13Anti-Inflammatory AgentsPhase 410355
14AntiemeticsPhase 43888
15Gastrointestinal AgentsPhase 4, Phase 38109
16Autonomic AgentsPhase 49774
17Angiogenesis Modulating AgentsPhase 44072
18BB 1101Phase 42084
19Dexamethasone acetatePhase 420841177-87-3
20Dexamethasone 21-phosphatePhase 42084
21histidineNutraceuticalPhase 442
22
Carbamazepineapproved, investigationalPhase 3131298-46-42554
Synonyms:
2-azatricyclo[9.4.0.0^{3,8}]pentadeca-1(11),3(8),4,6,9,12,14-heptaene-2-carboxamide
298-46-4
5-Carbamoyl-5H-dibenz(b,f)azepine
5-Carbamoyl-5H-dibenz[b,F]azepine
5-Carbamoyl-5H-dibenz[b,f]azepine
5-Carbamoyl-5H-dibenzo(b,F)azepine
5-Carbamoyl-5H-dibenzo(b,f)azepine
5-Carbamoyldibenzo(b,f)azepine
5-Carbamyl-5H-dibenzo(b,F)azepine
5-Carbamyl-5H-dibenzo(b,f)azepine
5-Carbamyldibenzo(b,f)azepine
5H-Dibenz(b,F)azepine-5-carboxamide
5H-Dibenz(b,f)azepine-5-carboxamide
5H-Dibenz[b,f]azepine-5- carboxamide
5H-Dibenz[b,f]azepine-5-carboxamide
5H-Dibenzo[b,f]azepine-5-carboxamide
85756-57-6 (di-hydrate)
AC-10560
AC1L1DXT
AC1Q4ZSU
AC1Q4ZSV
AKOS003235644
Amizepin
Amizepine
Apo-Carbamazepine
Atretol
BIDD:GT0479
BIM-0050280.0001
BPBio1_000225
BRD-K71799949-001-06-7
BRN 1246090
BSPBio_000203
BSPBio_001929
Bio-0751
Bipotrol
Biston
C 4024
C06868
C4024_SIAL
C4024_SIGMA
C8981_SIAL
CARBAMAZEPINE, U.S.P.
CAS-298-46-4
CBChromo1_000350
CBZ
CDS1_002710
CHEBI:3387
CHEMBL108
CID2554
CPD001227191
Calepsin
Carbamazepan
Carbamazepen
Carbamazepin
Carbamazepina
Carbamazepina [INN-Spanish]
Carbamazepine (JP15/USP/INN)
Carbamazepine [USAN:INN:BAN:JAN]
Carbamazepinum
Carbamazepinum [INN-Latin]
Carbamazépine
Carbamezepine
Carbatrol
Carbatrol extended-release
Carbazepin
Carbazepine
Carbelan
ChemDiv1_018966
D00252
DB00564
DivK1c_000388
DivK1c_003750
EINECS 206-062-7
EU-0100292
Epitol
Epitol, Equetro, Tegretol, Biston, Calepsin, Carbamazepine
Equetro
Equetro (TN)
Finlepsin
G 32883
G-32883
Geigy 32883
HMS1568K05
 
HMS1920I17
HMS2090M07
HMS2091O19
HMS501D10
HMS640O02
HSDB 3019
I06-0863
IDI1_000388
KBio1_000388
KBio2_000516
KBio2_003084
KBio2_005652
KBio3_001149
KBioGR_000724
KBioSS_000516
Karbamazepin
LS-60362
Lexin
Lopac-C-4024
Lopac0_000292
MLS000069652
MLS001055475
MLS001074172
MolPort-000-710-574
NCGC00015234-01
NCGC00015234-02
NCGC00015234-03
NCGC00015234-07
NCGC00015234-13
NCGC00023877-03
NCGC00023877-04
NCGC00023877-05
NCGC00023877-06
NCGC00023877-07
NCGC00023877-08
NINDS_000388
NSC 169864
NSC169864
Neurotol
Neurotop retard
Novo-Carbamaz
Nu-Carbamazepine
Oprea1_790775
Prestwick0_000052
Prestwick1_000052
Prestwick2_000052
Prestwick3_000052
Prestwick_104
S1693_Selleck
SAM002264603
SMR000058201
SMR001227191
SPBio_000170
SPBio_002124
SPD-417
SPECTRUM1500159
STK177357
Sirtal
Spectrum2_000125
Spectrum3_000325
Spectrum4_000262
Spectrum5_000936
Spectrum_000096
Stazepin
Stazepine
Taro-Carbamazepine
Taro-Carbamazepine Cr
Tegretal
Tegretol
Tegretol (TN)
Tegretol Chewtabs
Tegretol Cr
Tegretol-Xr
Telesmin
Teril
Timonil
Trimonil
UNII-33CM23913M
WLN: T C676 BNJ BVZ
ZINC00004785
benzo[b][1]benzazepine-11-carboxamide
carbamazepine
carbamazepine (Tegretol)
nchem.859-comp7
23PiracetamapprovedPhase 31707491-74-9
24
Valproic Acidapproved, investigationalPhase 332299-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
25
LacosamideapprovedPhase 378860352-01-8, 175481-36-4219078
Synonyms:
( )-(2R)-2-(acetylamino)-N-benzyl-3-methoxypropanamide
(2R)-2-(Acetylamino)-N-benzyl-3-methoxypropanamide
(2R)-2-acetamido-N-benzyl-3-methoxypropanamide
175481-36-4
AC1L560M
ADD 234037
ADD-234037
AKOS005146274
AZD7762
CHEBI:188739
CHEMBL58323
CID219078
D07299
 
Erlosamide
Erlosamide [INN]
Erlosamide, Vimpat, Lacosamide
Harkoseride
I01-7424
LS-185541
Lacosamide
Lacosamide (USAN/INN)
Lacosamide [USAN]
S1253_Selleck
SPM 927
SPM-927
SPM-929
Vimpat
ZINC00007673
26
Octreotideapproved, investigationalPhase 321383150-76-9383414, 6400441
Synonyms:
(4R,7S,10S,13R,16S,19R)-10-(4-aminobutyl)-19-[[(2R)-2-amino-3-phenylpropanoyl]amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-[(1R)-1-hydroxyethyl]-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-Aminobutyl)-19-((2-amino-3-phenylpropanoyl)amino)-16-benzyl-7-(1-hydroxyethyl)-N-(2-hydroxy-1-(hydroxymethyl)propyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaa
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-(1,3-dihydroxybutan-2-yl)-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
79517-01-4 (acetate salt)
83150-76-9
AC1L1GVU
AC1L8LCD
AC1L9M4X
C07306
C5H12O2.C4H10
CHEBI:427278
CHEBI:611465
CHEMBL1680
CID383414
CID448601
CID54374
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-L-cysteinyl-L-threoninol cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2->7)-disulfide
D00442
DRG-0115
HMS2090C09
HS-2020
 
L-Cysteinamide, D-phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L- threonyl-N-(2-hydroxy-1-(hydroxymethyl)propyl)-, cyclic (2->7)-disulfide, (R-(R*
L000453
LS-177735
LS-187135
Longastatin
NCGC00181796-01
NCI60_025753
Octreotida
Octreotida [Spanish]
Octreotide
Octreotide (USAN/INN)
Octreotide Acetate Salt
Octreotide [USAN:INN:BAN]
Octreotide-LAR
Octreotidum
Octreotidum [Latin]
Octrotide
SAN 201-995
SM 201-995
SMS 201-995
SMS-201-995
Sandostatine
Sandoz 201-995
UNII-RWM8CCW8GP
nchembio.184-comp3
zacycloicosane-4-carboxamide acetate
27Nootropic AgentsPhase 3701
28Psychotropic DrugsPhase 36279
29Tranquilizing AgentsPhase 34164
30Protective AgentsPhase 37190
31Neurotransmitter AgentsPhase 317734
32AnticonvulsantsPhase 32620
33Neuroprotective AgentsPhase 31672
34AnalgesicsPhase 311287
35Antimanic AgentsPhase 3790
36Analgesics, Non-NarcoticPhase 36260
37Central Nervous System DepressantsPhase 312806
38GABA AgentsPhase 31622
39EtiracetamPhase 3200
40Cytochrome P-450 CYP3A InducersPhase 31101
41VaccinesPhase 26428
42MF59 oil emulsionPhase 2101
43
LactitolPhase 2332585-86-43871
Synonyms:
4-O-b-D-Galactopyranosyl-D-glucitol, 9CI
E966
Emportal
 
Floralac
Importal
Oponaf
Portolac
44Adjuvants, ImmunologicPhase 22484
45
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
46Immunoglobulins6045
47Sulfalene80
48Antibodies6045
49Dermatologic Agents5674
50Bronchodilator Agents2856

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Extension Study to Compare Long-term Efficacy and Safety of Ranibizumab Intravitreal Injections Versus Dexamethasone Intravitreal Implant in Patients With RVOCompletedNCT01580020Phase 4
2Levetiracetam Versus Standard Antiepileptic Drugs (Carbamazepine and Valproate) Used as Monotherapy in Patients With Newly Diagnosed EpilepsyCompletedNCT00175903Phase 3
3Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic SeizuresEnrolling by invitationNCT02408549Phase 3
4Safety and Biological Activity of C2L-OCT-01 PR in Acromegalic PatientsTerminatedNCT00642421Phase 3
5Safety and Immunogenicity of Two Doses of a Tetravalent Influenza Vaccine in Adults Aged 18 Years and AboveCompletedNCT00620815Phase 2
6Genetic & Environmental Determinants Of Immune Phenotype Variance: Establishing A Path Towards Personalized MedicineCompletedNCT01699893
7Effect of a Mixture of Probiotics on the Antigen Specific Antibody Response in a Influenza Vaccination Model of Healthy AdultsCompletedNCT01652066
8Performance of the HBV ELISPOT in the Detection of the T Cellular Immune Response in Patients Infected by HBV or CuredCompletedNCT02909023
9Sleep and Memory in ChildrenRecruitingNCT02785328
10Uncontrolled Lower Respiratory Symptoms in the WTC Survivor ProgramRecruitingNCT02024204
11Incretin-mimetic Hypoglycemic Drugs and Severe RetinopathyRecruitingNCT02671864
12Impulsivity in Tourette Syndrome : Behavioral and Neuroimaging StudyRecruitingNCT02960698

Search NIH Clinical Center for Nijmegen Breakage Syndrome


Cochrane evidence based reviews: nijmegen breakage syndrome

Genetic Tests for Nijmegen Breakage Syndrome

About this section

Genetic tests related to Nijmegen Breakage Syndrome:

id Genetic test Affiliating Genes
1 Microcephaly, Normal Intelligence and Immunodeficiency26
2 Nijmegen Breakage Syndrome24 NBN

Anatomical Context for Nijmegen Breakage Syndrome

About this section

MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

35
T cells, B cells, Thymus, Skeletal muscle, Brain, Prostate, Liver

Animal Models for Nijmegen Breakage Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

40 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020067.6ATM, BRCA1, CHEK2, H2AFX, LIG4, NBN
2MP:00053797.4ATM, BRCA1, H2AFX, LIG4, MDC1, NBN
3MP:00053787.4ATM, BRCA1, H2AFX, LIG4, MDC1, NBN
4MP:00053897.3ATM, BRCA1, H2AFX, LIG4, MDC1, NBN
5MP:00053767.1ATM, BRCA1, CHEK2, H2AFX, LIG4, MDC1
6MP:00053846.8ATM, BRCA1, CHEK2, H2AFX, LIG4, MDC1
7MP:00053976.8ATM, BRCA1, CHEK2, H2AFX, LIG4, MDC1
8MP:00053876.8ATM, BRCA1, CHEK2, H2AFX, LIG4, MDC1
9MP:00107686.7ATM, BRCA1, CHEK2, H2AFX, LIG4, MDC1

Publications for Nijmegen Breakage Syndrome

About this section

Articles related to Nijmegen Breakage Syndrome:

(show top 50)    (show all 196)
idTitleAuthorsYear
1
Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients. (27545893)
2016
2
Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application. (26265251)
2015
3
The role of nibrin in doxorubicin-induced apoptosis and cell senescence in Nijmegen Breakage Syndrome patients lymphocytes. (25119968)
2014
4
Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome. (24619942)
2014
5
An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma. (24428841)
2014
6
Cutaneous sarcoid-like granulomas in a child known with nijmegen breakage syndrome. (23550270)
2013
7
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. (22293976)
2012
8
Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome. (22533239)
2012
9
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. (21227757)
2011
10
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. (20947454)
2010
11
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. (20597108)
2010
12
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). (18937313)
2009
13
Oral findings in patients with Nijmegen breakage syndrome: a preliminary study. (19782616)
2009
14
Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome. (18347309)
2008
15
Nijmegen breakage syndrome. (17712992)
2007
16
Differentiation of Nijmegen breakage syndrome from Fanconi anemia. (18050081)
2007
17
Positive diepoxybutane test in a patient with Nijmegen breakage syndrome. (16862537)
2007
18
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. (16544999)
2006
19
Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome. (16765653)
2006
20
Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay. (16470524)
2006
21
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. (15333589)
2004
22
Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex. (15493328)
2004
23
Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex. (15476893)
2004
24
Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes. (14738145)
2003
25
Nijmegen breakage syndrome: a neuropathological study. (12973659)
2003
26
Assembly of functional ALT-associated promyelocytic leukemia bodies requires Nijmegen Breakage Syndrome 1. (12750284)
2003
27
Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome. (14632755)
2003
28
Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. (12483513)
2002
29
Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. (11839094)
2002
30
Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome. (12160977)
2002
31
Aplastic anemia in Nijmegen breakage syndrome. (12410210)
2002
32
Differing responses of Nijmegen breakage syndrome and ataxia telangiectasia cells to ionizing radiation. (12175309)
2002
33
Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. (11953735)
2002
34
Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma. (12066197)
2002
35
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome. (11435685)
2001
36
Nijmegen breakage syndrome disease protein and MRE11 at PML nuclear bodies and meiotic telomeres. (10811102)
2000
37
Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1. (10838806)
2000
38
Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development. (10915761)
2000
39
Interactions of the Nijmegen breakage syndrome protein with ATM and BRCA1. (12760071)
2000
40
Normal V(D)J recombination in cells from patients with Nijmegen breakage syndrome. (11282395)
2000
41
Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts. (10377945)
1999
42
DNA repair: the Nijmegen breakage syndrome protein. (9742394)
1998
43
Characterization of cell cycle checkpoint responses after ionizing radiation in Nijmegen breakage syndrome cells. (9622065)
1998
44
Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines. (9020962)
1997
45
Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. (9442910)
1997
46
Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24. (9199571)
1997
47
The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11. (8644753)
1996
48
Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome? (8825936)
1995
49
Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome. (8554361)
1995
50
A new chromosomal instability disorder: the Nijmegen breakage syndrome. (7315300)
1981

Variations for Nijmegen Breakage Syndrome

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Clinvar genetic disease variations for Nijmegen Breakage Syndrome:

5 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1NBNNM_002485.4(NBN): c.698_701delAACA (p.Lys233Serfs)deletionPathogenicrs587780100GRCh37Chr 8, 90983402: 90983405
2NBNNM_002485.4(NBN): c.88_89delAA (p.Asn30Leufs)deletionLikely pathogenic, Pathogenicrs587781718GRCh37Chr 8, 90995032: 90995033
3NBNNM_002485.4(NBN): c.1142delC (p.Pro381Glnfs)deletionPathogenicrs587781969GRCh37Chr 8, 90967766: 90967766
4NBNNM_002485.4(NBN): c.127C> T (p.Arg43Ter)SNVLikely pathogenic, Pathogenicrs200287925GRCh37Chr 8, 90994994: 90994994
5NBNNM_002485.4(NBN): c.1903A> T (p.Lys635Ter)SNVLikely pathogenic, Pathogenicrs587782545GRCh38Chr 8, 89947835: 89947835
6NBNNM_002485.4(NBN): c.2117C> G (p.Ser706Ter)SNVLikely pathogenic, Pathogenicrs730881857GRCh38Chr 8, 89943320: 89943320
7NBNNM_002485.4(NBN): c.2140C> T (p.Arg714Ter)SNVPathogenicrs730881864GRCh38Chr 8, 89943297: 89943297
8NBNNM_002485.4(NBN): c.2071-1G> CSNVLikely pathogenicrs786201965GRCh37Chr 8, 90955595: 90955595
9NBNNM_002485.4(NBN): c.808_809delGT (p.Val270Cysfs)deletionPathogenicrs786202490GRCh37Chr 8, 90982679: 90982680
10NBNNM_002485.4(NBN): c.2165G> A (p.Trp722Ter)SNVPathogenicrs786204181GRCh37Chr 8, 90955500: 90955500
11NBNNM_002485.4(NBN): c.842T> G (p.Leu281Ter)SNVPathogenicrs786205135GRCh38Chr 8, 89970418: 89970418
12NBNNM_002485.4(NBN): c.1030C> T (p.Gln344Ter)SNVLikely pathogenic, Pathogenicrs767215758GRCh38Chr 8, 89958819: 89958819
13NBNNM_002485.4(NBN): c.2185-?_*(1_?)deldeletionLikely pathogenicGRCh37Chr 8, 90947809: 90949303
14NBNNM_002485.4(NBN): c.211_212insGA (p.Asn71Argfs)insertionPathogenicrs762664474GRCh37Chr 8, 90993711: 90993712
15NBNNM_002485.4(NBN): c.897-?_2184+?deldeletionPathogenicChr na, -1: -1
16NBNNM_002485.4(NBN): c.897-2A> TSNVLikely pathogenicrs864622090GRCh37Chr 8, 90976737: 90976737
17NBNNM_002485.4(NBN): c.1747C> T (p.Gln583Ter)SNVPathogenicrs864622143GRCh38Chr 8, 89953342: 89953342
18NBNNM_002485.4(NBN): c.93_94delTG (p.Ala32Hisfs)deletionPathogenicrs864622253GRCh37Chr 8, 90995027: 90995028
19NBNNM_002485.4(NBN): c.1419_1431dupAGAAATGTCTTCA (p.Cys478Argfs)duplicationPathogenicrs864622333GRCh37Chr 8, 90965886: 90965898
20NBNNM_002485.4(NBN): c.115delC (p.Gln39Serfs)deletionPathogenicrs864622511GRCh37Chr 8, 90995006: 90995006
21NBNNM_002485.4(NBN): c.995-2A> GSNVLikely pathogenicrs876659521GRCh37Chr 8, 90971084: 90971084
22NBNNM_002485.4(NBN): c.2184+1G> TSNVLikely pathogenicrs756363734GRCh37Chr 8, 90955480: 90955480
23NBNNM_002485.4: c.265C> TSNVLikely pathogenicChr na, -1: -1
24NBNNM_002485.4: c.171+1G> ASNVLikely pathogenicChr na, -1: -1
25NBNNM_002485.4: c.1587dupAduplicationLikely pathogenicChr na, -1: -1
26NBNNM_002485.4: c.178dupAduplicationLikely pathogenicChr na, -1: -1
27NBNNM_002485.4: c.1848delAdeletionLikely pathogenicChr na, -1: -1
28NBNNM_002485.4: c.1974delAdeletionLikely pathogenicChr na, -1: -1
29NBNNM_002485.4: c.163_171+3del12deletionLikely pathogenicChr na, -1: -1
30NBNNM_002485.4: c.531delTdeletionLikely pathogenicChr na, -1: -1
31NBNNM_002485.4: c.317dupTduplicationLikely pathogenicChr na, -1: -1
32NBNNM_002485.4: c.2000_2001delCTdeletionLikely pathogenicChr na, -1: -1
33NBNNM_002485.4: c.2049_2050delAAinsTindelLikely pathogenicChr na, -1: -1
34NBNNM_002485.4: c.1640delCdeletionLikely pathogenicChr na, -1: -1
35NBNNM_002485.4: c.156_157delTTdeletionLikely pathogenicChr na, -1: -1
36NBNNM_002485.4: c.2070+2delTdeletionLikely pathogenicChr na, -1: -1
37NBNNM_002485.4: c.1125-1G> ASNVLikely pathogenicChr na, -1: -1
38NBNNM_002485.4: c.702+1G> ASNVLikely pathogenicChr na, -1: -1
39NBNNM_002485.4: c.1124+1G> ASNVLikely pathogenicChr na, -1: -1
40NBNNM_002485.4: c.1846-1G> ASNVLikely pathogenicChr na, -1: -1
41NBNNM_002485.4: c.2185-1G> ASNVLikely pathogenicChr na, -1: -1
42NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenic, risk factorrs587776650GRCh37Chr 8, 90983442: 90983446
43NBNNM_002485.4(NBN): c.835_838delCAGA (p.Gln279Profs)deletionPathogenicrs864309668GRCh38Chr 8, 89970422: 89970425
44NBNNM_002485.4(NBN): c.842dupT (p.Leu281Phefs)duplicationPathogenicrs864309669GRCh38Chr 8, 89970418: 89970418
45NBNNM_002485.4(NBN): c.976C> T (p.Gln326Ter)SNVPathogenicrs121908973GRCh37Chr 8, 90976656: 90976656
46NBNNM_002485.4(NBN): c.1089C> A (p.Tyr363Ter)SNVPathogenicrs121908974GRCh37Chr 8, 90970988: 90970988
47NBNNM_002485.4(NBN): c.741_742dupGG (p.Glu248Glyfs)duplicationPathogenicrs864309670GRCh37Chr 8, 90982746: 90982747

Expression for genes affiliated with Nijmegen Breakage Syndrome

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Search GEO for disease gene expression data for Nijmegen Breakage Syndrome.

Pathways for genes affiliated with Nijmegen Breakage Syndrome

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Pathways related to Nijmegen Breakage Syndrome according to GeneCards Suite gene sharing:

(show all 34)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6ATM, TP53
29.6BRCA1, TP53
39.3CHEK2, TP53
49.3ATM, BRCA1, TP53
59.3ATM, BRCA1, TP53
69.2ATM, NBN, RAD50, WRN
79.1ATM, H2AFX, TP53
89.0ATM, CHEK2, H2AFX
9
Show member pathways
9.0ATM, CHEK2, TP53
10
Show member pathways
9.0ATM, CHEK2, TP53
11
Show member pathways
9.0ATM, CHEK2, TP53
12
Show member pathways
9.0ATM, CHEK2, TP53
13
Show member pathways
9.0ATM, CHEK2, TP53
14
Show member pathways
8.8ATM, BRCA1, NBN, RAD50, WRN
158.8BRCA1, LIG4, NBN, RAD50, WRN
16
Show member pathways
8.7ATM, BRCA1, H2AFX, NBN, RAD50
178.7ATM, BRCA1, NBN, RAD50, TP53
18
Show member pathways
8.6ATM, BRCA1, CHEK2, TP53
19
Show member pathways
8.5ATM, H2AFX, NBN, RAD50, TP53
20
Show member pathways
8.3BRCA1, MDC1, TP53, WRN
218.3ATM, BRCA1, CHEK2, RAD50, TP53
22
Show member pathways
8.1ATM, BRCA1, CHEK2, NBN, RAD50, TP53
237.9ATM, BRCA1, CHEK2, RAD50, TP53, WRN
24
Show member pathways
7.7ATM, BRCA1, CHEK2, LIG4, NBN, RAD50
257.5ATM, BRCA1, CHEK2, MDC1, NBN, TP53
26
Show member pathways
6.8ATM, BRCA1, CHEK2, MDC1, NBN, RAD50
276.8ATM, BRCA1, CHEK2, H2AFX, LIG4, NBN
28
Show member pathways
6.7ATM, BRCA1, CHEK2, H2AFX, MDC1, NBN
29
Show member pathways
6.7ATM, BRCA1, CHEK2, H2AFX, MDC1, NBN
30
Show member pathways
6.4ATM, BRCA1, CHEK2, H2AFX, LIG4, MDC1
31
Show member pathways
6.3ATM, BRCA1, CHEK2, H2AFX, MDC1, NBN
32
Show member pathways
6.3ATM, BRCA1, CHEK2, H2AFX, MDC1, NBN
33
Show member pathways
6.3ATM, BRCA1, CHEK2, H2AFX, MDC1, NBN
34
Show member pathways
6.0ATM, BRCA1, CHEK2, H2AFX, LIG4, MDC1

GO Terms for genes affiliated with Nijmegen Breakage Syndrome

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1Mre11 complexGO:003087010.7NBN, RAD50
2condensed chromosomeGO:000079310.4BRCA1, LIG4
3site of double-strand breakGO:003586110.1H2AFX, NBN, RAD50
4condensed nuclear chromosomeGO:00007949.8BRCA1, H2AFX, RAD50
5PML bodyGO:00166059.7CHEK2, NBN, TP53
6replication forkGO:00056579.5H2AFX, NBN, TP53
7chromosome, telomeric regionGO:00007819.4ATM, CHEK2, H2AFX
8nuclear chromosome, telomeric regionGO:00007849.4ATM, LIG4, NBN, RAD50, WRN
9chromosomeGO:00056949.2BRCA1, H2AFX, MDC1
10nuclear chromatinGO:00007908.8H2AFX, RAD50, TP53
11nucleusGO:00056346.3ATM, BRCA1, CHEK2, H2AFX, LIG4, MDC1
12nucleoplasmGO:00056545.9ATM, BRCA1, CHEK2, H2AFX, LIG4, MDC1

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

(show all 45)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein autophosphorylationGO:003195410.5NBN, RAD50
2isotype switchingGO:004519010.4LIG4, NBN
3telomeric 3 overhang formationGO:003186010.4NBN, RAD50
4DNA damage response, signal transduction by p53 class mediatorGO:003033010.3NBN, TP53
5positive regulation of telomere maintenanceGO:003220610.3NBN, RAD50
6determination of adult lifespanGO:000834010.3ATM, TP53
7V(D)J recombinationGO:003315110.3ATM, LIG4
8telomere maintenance via telomeraseGO:000700410.2ATM, RAD50
9negative regulation of telomere cappingGO:190435410.2ATM, NBN, RAD50
10response to X-rayGO:001016510.2LIG4, TP53
11positive regulation of DNA repairGO:004573910.2BRCA1, H2AFX
12DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.2BRCA1, TP53
13telomere maintenance via recombinationGO:000072210.1RAD50, WRN
14neuron apoptotic processGO:005140210.1ATM, LIG4
15positive regulation of cell cycle arrestGO:007115810.1BRCA1, TP53
16DNA damage induced protein phosphorylationGO:000697510.1ATM, CHEK2
17reciprocal meiotic recombinationGO:000713110.0ATM, RAD50
18replicative cell agingGO:000130210.0CHEK2, WRN
19cell agingGO:00075699.9TP53, WRN
20intrinsic apoptotic signaling pathwayGO:00971939.9NBN, TP53
21base-excision repairGO:00062849.9TP53, WRN
22telomere maintenanceGO:00007239.8NBN, RAD50, WRN
23positive regulation of kinase activityGO:00336749.8NBN, RAD50
24DNA duplex unwindingGO:00325089.8NBN, RAD50, WRN
25cellular response to gamma radiationGO:00714809.7ATM, H2AFX, WRN
26cell cycle arrestGO:00070509.7ATM, NBN, TP53
27intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.7ATM, BRCA1, CHEK2
28meiotic cell cycleGO:00513219.7H2AFX, NBN
29DNA double-strand break processingGO:00007299.5ATM, BRCA1, NBN, RAD50
30DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.5ATM, CHEK2, TP53
31replicative senescenceGO:00903999.5ATM, CHEK2, TP53
32response to gamma radiationGO:00103329.4CHEK2, LIG4, TP53
33double-strand break repair via homologous recombinationGO:00007249.3ATM, BRCA1, H2AFX, NBN, RAD50
34DNA damage checkpointGO:00000779.3CHEK2, H2AFX, NBN
35DNA synthesis involved in DNA repairGO:00007319.2ATM, BRCA1, NBN, RAD50, WRN
36strand displacementGO:00007329.1ATM, BRCA1, NBN, RAD50, WRN
37DNA replicationGO:00062609.1ATM, BRCA1, NBN, RAD50, WRN
38regulation of apoptotic processGO:00429819.1ATM, BRCA1, TP53, WRN
39DNA repairGO:00062819.1ATM, H2AFX, LIG4, RAD50
40response to ionizing radiationGO:00102128.9ATM, BRCA1, H2AFX, LIG4
41protein sumoylationGO:00169258.9BRCA1, MDC1, TP53, WRN
42double-strand break repairGO:00063028.0BRCA1, CHEK2, H2AFX, LIG4, NBN, RAD50
43double-strand break repair via nonhomologous end joiningGO:00063038.0ATM, BRCA1, H2AFX, LIG4, MDC1, NBN
44regulation of signal transduction by p53 class mediatorGO:19017968.0ATM, BRCA1, CHEK2, NBN, RAD50, TP53
45cellular response to DNA damage stimulusGO:00069747.8ATM, BRCA1, CHEK2, H2AFX, RAD50, TP53

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
13-5 exonuclease activityGO:000840810.5RAD50, WRN
2G-quadruplex DNA bindingGO:005188010.3RAD50, WRN
3ATP-dependent DNA helicase activityGO:00040039.9NBN, RAD50, WRN
4protein N-terminus bindingGO:00474859.9ATM, NBN, TP53
5damaged DNA bindingGO:00036849.3BRCA1, H2AFX, NBN, TP53
6ATP bindingGO:00055248.1ATM, CHEK2, LIG4, RAD50, TP53, WRN
7DNA bindingGO:00036777.7ATM, BRCA1, H2AFX, LIG4, RAD50, TP53

Sources for Nijmegen Breakage Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet