MCID: NJM001
MIFTS: 68

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:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 2CDC, 43NCIt, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Nijmegen Breakage Syndrome:

Name: Nijmegen Breakage Syndrome 50 11 22 46 23 24 13 52 68 12 48 37 66
Berlin Breakage Syndrome 11 22 46 23 24 52
Ataxia-Telangiectasia Variant 1 22 23 24
Nbs 52 68 2
Immunodeficiency, Microcephaly with Normal Intelligence 46 25
Microcephaly, Normal Intelligence and Immunodeficiency 11 24
Seemanova Syndrome 11 24
Microcephaly with Normal Intelligence Immunodeficiency and Lymphoreticular Malignancies 46
Nonsyndromal Microcephaly Autosomal Recessive with Normal Intelligence 46
 
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome 52
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome 52
Microcephaly Immunodeficiency Lymphoreticuloma 46
Ataxia-Telangiectasia Variant V1 46
Ataxia-Telangiectasia, Variant 1 52
Seemanova Syndrome Type 2 52
Seemanova Syndrome 2 46
at V1 52
at-V1 23

Characteristics:

Orphanet epidemiological data:

52
nijmegen breakage syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
nijmegen breakage syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 251260
Disease Ontology11 DOID:7400
MeSH37 D049932
NCIt43 C4692
Orphanet52 ORPHA647
SNOMED-CT60 234638009
MESH via Orphanet38 C531759, D049932
UMLS via Orphanet67 C0398791, C2930831
ICD10 via Orphanet29 Q87.8

Summaries for Nijmegen Breakage Syndrome

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OMIM:50 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 breast cancer and nijmegen breakage syndrome-like disorder, 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 miRNA Regulation of DNA Damage Response and Immune response IL-2 activation and signaling pathway. Affiliated tissues include t cells, b cells and thymus, and related mouse phenotypes are pigmentation and adipose tissue.

Genetics Home Reference:24 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.

UniProtKB/Swiss-Prot:68 Nijmegen breakage syndrome: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.

Wikipedia:69 Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome, ataxia telangiectasia variant... more...

GeneReviews summary 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 76)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer27.7ATM, ATR, BRCA1, CHEK2, MRE11A, NBN
2nijmegen breakage syndrome-like disorder12.6
3neuroblastoma11.6
4nicolaides-baraitser syndrome11.1
5ataxia10.6
6ataxia-telangiectasia10.6
7leukemia10.4
8lymphoma10.4
9lethal congenital contracture syndrome 710.4BRCA1, NBN
10acral lentiginous melanoma10.4ATM, TP53
11amyloid tumor10.4ATM, BRCA1
12cervical serous adenocarcinoma10.3BRCA1, TP53
13hypersensitivity reaction type iv disease10.3NBN, TP53
14ovarian brenner tumor10.3BRCA1, TP53
15liddle syndrome, scnn1g-related10.3CHEK2, TP53
16rectum mucinous adenocarcinoma10.3BRCA1, TP53
17cholesteatoma of external ear10.3BRCA1, TP53
18lymphoblastic leukemia10.3
19microcephaly10.3
20clear cell acanthoma10.3ATM, TP53
21papillary adenofibroma10.3BRCA1, TP53
22medulloblastoma10.2
23leiomyosarcoma10.2BRCA1, TP53
24familial breast cancer10.2BRCA1, CHEK2
25janus kinase-3 deficiency10.2H2AFX, LIG4
26nodular lymphocyte predominant hodgkin lymphoma10.2ATM, CHEK2
27prostate cancer10.1
28hodgkin lymphoma10.1
29prostatitis10.1
30smoking as a quantitative trait locus 110.1ATM, NBN, TP53
31distal monosomy 9p10.1BRCA1, TP53
32bile duct disease10.1ATM, BRCA1, TP53
33stromal keratitis10.1H2AFX, TP53
34hidrocystoma10.0BRCA1, RAD50, TP53
35myasthenia gravis, limb-girdle10.0BRCA1, TP53
36rheumatoid arthritis10.0
37hiv-110.0
38schizencephaly10.0
39hepatocellular carcinoma10.0
40aplastic anemia10.0
41insulin-like growth factor i10.0
42acute monocytic leukemia10.0
43arthritis10.0
44b-cell lymphomas10.0
45prolymphocytic leukemia10.0
46rhabdomyosarcoma10.0
47porokeratosis10.0
48thrombophlebitis10.0
49tuberculosis10.0
50intrahepatic cholangiocarcinoma10.0

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

Symptoms:

 52 (show all 49)
  • cleft palate
  • microcephaly
  • abnormality of the face
  • retrognathia
  • low anterior hairline
  • sloping forehead
  • hearing abnormality
  • macrotia
  • prominent nasal bridge
  • convex nasal ridge
  • prominent nose
  • short neck
  • abnormality of the eyelid
  • upslanted palpebral fissure
  • cutaneous photosensitivity
  • mental deterioration
  • muscle weakness
  • freckling
  • abnormality of the hair
  • thrombocytopenia
  • hemolytic anemia
  • autoimmune hemolytic anemia
  • deep philtrum
  • anal atresia
  • anal stenosis
  • chronic diarrhea
  • recurrent respiratory infections
  • abnormality of neuronal migration
  • acute leukemia
  • neoplasm
  • lymphoma
  • rhabdomyosarcoma
  • respiratory failure
  • abnormality of the musculature
  • skeletal muscle atrophy
  • abnormality of chromosome stability
  • short stature
  • cachexia
  • depressed nasal bridge
  • recurrent sinopulmonary infections
  • recurrent pneumonia
  • attention deficit hyperactivity disorder
  • glioma
  • abnormal hair quantity
  • t-cell lymphoma
  • b-cell lymphoma
  • anorectal anomaly
  • non-midline cleft lip
  • pollakisuria

HPO human phenotypes related to Nijmegen Breakage Syndrome:

(show all 77)
id Description Frequency HPO Source Accession
1 sinusitis hallmark (90%) HP:0000246
2 microcephaly hallmark (90%) HP:0000252
3 low anterior hairline hallmark (90%) HP:0000294
4 sloping forehead hallmark (90%) HP:0000340
5 micrognathia hallmark (90%) HP:0000347
6 hearing abnormality hallmark (90%) HP:0000364
7 convex nasal ridge hallmark (90%) HP:0000444
8 short neck hallmark (90%) HP:0000470
9 upslanted palpebral fissure hallmark (90%) HP:0000582
10 thrombocytopenia hallmark (90%) HP:0001873
11 hemolytic anemia hallmark (90%) HP:0001878
12 deep philtrum hallmark (90%) HP:0002002
13 malabsorption hallmark (90%) HP:0002024
14 recurrent respiratory infections hallmark (90%) HP:0002205
15 abnormality of chromosome stability hallmark (90%) HP:0003220
16 short stature hallmark (90%) HP:0004322
17 decreased body weight hallmark (90%) HP:0004325
18 abnormal nasal morphology hallmark (90%) HP:0005105
19 depressed nasal bridge hallmark (90%) HP:0005280
20 attention deficit hyperactivity disorder hallmark (90%) HP:0007018
21 abnormal immunoglobulin level hallmark (90%) HP:0010701
22 abnormality of the upper urinary tract hallmark (90%) HP:0010935
23 abnormal hair quantity hallmark (90%) HP:0011362
24 cognitive impairment hallmark (90%) HP:0100543
25 urogenital fistula hallmark (90%) HP:0100589
26 aplasia/hypoplasia of the thymus typical (50%) HP:0010515
27 cleft palate occasional (7.5%) HP:0000175
28 cutaneous photosensitivity occasional (7.5%) HP:0000992
29 muscle weakness occasional (7.5%) HP:0001324
30 freckling occasional (7.5%) HP:0001480
31 respiratory insufficiency occasional (7.5%) HP:0002093
32 abnormality of neuronal migration occasional (7.5%) HP:0002269
33 acute leukemia occasional (7.5%) HP:0002488
34 lymphoma occasional (7.5%) HP:0002665
35 medulloblastoma occasional (7.5%) HP:0002885
36 skeletal muscle atrophy occasional (7.5%) HP:0003202
37 glioma occasional (7.5%) HP:0009733
38 non-midline cleft lip occasional (7.5%) HP:0100335
39 recurrent urinary tract infections HP:0000010
40 hydronephrosis HP:0000126
41 cleft palate HP:0000175
42 cleft upper lip HP:0000204
43 sinusitis HP:0000246
44 microcephaly HP:0000252
45 mastoiditis HP:0000265
46 sloping forehead HP:0000340
47 micrognathia HP:0000347
48 otitis media HP:0000388
49 macrotia HP:0000400
50 choanal atresia HP:0000453
51 upslanted palpebral fissure HP:0000582
52 hyperactivity HP:0000752
53 cafe-au-lait spot HP:0000957
54 intellectual disability HP:0001249
55 intrauterine growth retardation HP:0001511
56 primary ovarian failure HP:0001587
57 thrombocytopenia HP:0001873
58 autoimmune hemolytic anemia HP:0001890
59 diarrhea HP:0002014
60 anal atresia HP:0002023
61 anal stenosis HP:0002025
62 bronchiectasis HP:0002110
63 neurodegeneration HP:0002180
64 lymphoma HP:0002665
65 recurrent bronchitis HP:0002837
66 rhabdomyosarcoma HP:0002859
67 medulloblastoma HP:0002885
68 dysgammaglobulinemia HP:0002961
69 long nose HP:0003189
70 short stature HP:0004322
71 recurrent infection of the gastrointestinal tract HP:0004798
72 t lymphocytopenia HP:0005403
73 progressive vitiligo HP:0005602
74 recurrent pneumonia HP:0006532
75 glioma HP:0009733
76 malar prominence HP:0010620
77 b lymphocytopenia HP:0010976

Drugs & Therapeutics for Nijmegen Breakage Syndrome

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitorsPhase 45157
Synonyms:
 
protease inhibitors
2
DexamethasonePhase 4200150-02-25743
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
3glucocorticoidsPhase 44756
4Dexamethasone acetatePhase 420011177-87-3
5
RanibizumabPhase 4469347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
6histidineNutraceuticalPhase 437
7PiracetamPhase 31687491-74-9
8
Valproic AcidPhase 331899-66-13121
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
9
CarbamazepinePhase 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
10
AZD7762Phase 376860352-01-8, 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
11
OctreotidePhase 320683150-76-9383414, 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
12
lactitolPhase 2325585-86-43871
Synonyms:
4-O-b-D-Galactopyranosyl-D-glucitol, 9CI
E966
Emportal
 
Floralac
Importal
Oponaf
Portolac
13
Menthol21842216-51-516666
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
14
Salmeterol xinafoate34494749-08-356801
Synonyms:
(+-)-4-Hydroxy-alpha(sup 1)-(((6-(4-phenylbutoxy)hexyl)amino)methyl)-m-xylene-alpha,alpha'-diol 1-hydroxy-2-naphthoate (salt)
(+/-) 4-Hydroxy-a1-[[[6-(4-phenylbutoxy)hexyl]amino]m-ethyl]-1,3-benzenedimethanol xinafoate
1,3-Benzenedimethanol, 4-hydroxy-alpha(sup 1)-(((6-(4-phenylbutoxy)hexyl)amino)methyl)-, (+-)-, 1-hydroxy-2-naphthalenecarboxylate (salt)
1-hydroxynaphthalene-2-carboxylic acid
2-(hydroxymethyl)-4-[1-hydroxy-2-[6-(4-phenylbutoxy)hexylamino]ethyl]phenol
89365-50-4 (Parent)
94749-08-3
AC1L1LPS
Arial
Asmerole
Beglan
Betamican
Bio-0096
C25H37NO4.C11H8O3
CHEMBL1082607
CID56801
D00687
Dilamax
EU-0101100
GR 33343 G
GR 33343X xinafoate
 
GR-33343 G
Inaspir
LS-94516
MLS001332577
MLS001332578
MolPort-003-850-218
NCGC00094372-01
NCGC00094372-02
NCGC00094372-03
NCGC00094372-04
S5068_SIGMA
SMR000875207
Salmetedur
Salmeterol 1-hydroxy-2-naphthoate
Salmeterol xinafoate (JAN/USAN)
Salmeterol xinafoate [USAN]
Serevent (TN)
Serevent Inhaler and Disks
Serevent diskus
UNII-6EW8Q962A5
Ultrabeta
salmeterol xinafoate
15
Fluticasone61590566-53-3, 80474-14-262924, 22833648
Synonyms:
90566-53-3
AC-456
AC1NSJZT
Asmatil
Axotide
BIDD:GT0819
Brethal
C07815
CHEMBL1201396
CID5311101
Cultivate
Cutivate
D07981
Flixonase
Flixonase Nasal Spray
Flixotide
Flixotide Disk
 
Flixotide Disks
Flixotide Inhaler
Flonase
Flovent
Flovent Diskus
Flovent Rotadisk
Fluinol
Flunase
Flusonal
Fluspiral
Fluticaps
Fluticaps (TN)
Fluticasone (INN)
Fluticasonpropionat Allen
Flutide
Flutivate
MolPort-006-666-449
S-(fluoromethyl) (6S,8S,9R,10S,11S,13S,14S,16R,17R)-6,9-difluoro-11,17-dihydroxy-10,13,16-trimethyl-3-oxo-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthrene-17-carbothioate
fluticasone
16BifidobacteriumNutraceutical220
17ACIDOPHILUSNutraceutical502

Interventional clinical trials:

(show all 11)
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
8Sleep and Memory in ChildrenRecruitingNCT02785328
9Uncontrolled Lower Respiratory Symptoms in the WTC Survivor ProgramRecruitingNCT02024204
10Incretin-mimetic Hypoglycemic Drugs and Severe RetinopathyRecruitingNCT02671864
11Performance of the HBV ELISPOT in the Detection of the T Cellular Immune Response in Patients Infected by HBV or CuredRecruitingNCT02909023

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 Immunodeficiency25
2 Nijmegen Breakage Syndrome23 NBN

Anatomical Context for Nijmegen Breakage Syndrome

About this section

MalaCards organs/tissues related to Nijmegen Breakage Syndrome:

34
T cells, B cells, Thymus, Breast, Skeletal muscle, Brain, Prostate

Animal Models for Nijmegen Breakage Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome:

39 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9ATR, BRCA1, RAD50, TP53
2MP:00053758.2ATM, ATR, BRCA1, TP53, WRN
3MP:00107718.1ATM, ATR, BRCA1, RAD50, TP53, WRN
4MP:00053817.9ATR, BRCA1, LIG4, RAD50, TP53, WRN
5MP:00053807.8ATM, ATR, BRCA1, MRE11A, NBN, RAD50
6MP:00036317.1ATM, ATR, BRCA1, LIG4, MRE11A, NBN
7MP:00053866.8ATM, ATR, BRCA1, LIG4, MRE11A, NBN
8MP:00053896.5ATM, ATR, BRCA1, H2AFX, LIG4, MRE11A
9MP:00053796.4ATM, ATR, BRCA1, H2AFX, LIG4, NBN
10MP:00053786.3ATM, ATR, BRCA1, H2AFX, LIG4, NBN
11MP:00053876.0ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4
12MP:00053845.9ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4
13MP:00020065.9ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4
14MP:00053975.8ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4
15MP:00053765.8ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4
16MP:00107685.6ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4

Publications for Nijmegen Breakage Syndrome

About this section

Articles related to Nijmegen Breakage Syndrome:

(show top 50)    (show all 193)
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 24)
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.1142delC (p.Pro381Glnfs)deletionPathogenicrs587781969GRCh37Chr 8, 90967766: 90967766
3NBNNM_002485.4(NBN): c.1903A> T (p.Lys635Ter)single nucleotide variantPathogenicrs587782545GRCh38Chr 8, 89947835: 89947835
4NBNNM_002485.4(NBN): c.2140C> T (p.Arg714Ter)single nucleotide variantPathogenicrs730881864GRCh38Chr 8, 89943297: 89943297
5NBNNM_002485.4(NBN): c.808_809delGT (p.Val270Cysfs)deletionPathogenicrs786202490GRCh37Chr 8, 90982679: 90982680
6NBNNM_002485.4(NBN): c.2165G> A (p.Trp722Ter)single nucleotide variantPathogenicrs786204181GRCh37Chr 8, 90955500: 90955500
7NBNNM_002485.4(NBN): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs767215758GRCh38Chr 8, 89958819: 89958819
8NBNNM_002485.4(NBN): c.842T> G (p.Leu281Ter)single nucleotide variantPathogenicrs786205135GRCh38Chr 8, 89970418: 89970418
9NBNNM_002485.4(NBN): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs767215758GRCh38Chr 8, 89958819: 89958819
10NBNNM_002485.4(NBN): c.2185-?_*(1_?)deldeletionLikely pathogenicGRCh37Chr 8, 90947809: 90949303
11NBNNM_002485.4(NBN): c.211_212insGA (p.Asn71Argfs)insertionPathogenicrs762664474GRCh37Chr 8, 90993711: 90993712
12NBNNM_002485.4(NBN): c.897-?_2184+?deldeletionPathogenic
13NBNNM_002485.4(NBN): c.897-2A> Tsingle nucleotide variantLikely pathogenicrs864622090GRCh38Chr 8, 89964509: 89964509
14NBNNM_002485.4(NBN): c.1747C> T (p.Gln583Ter)single nucleotide variantPathogenicrs864622143GRCh37Chr 8, 90965570: 90965570
15NBNNM_002485.4(NBN): c.93_94delTG (p.Ala32Hisfs)deletionPathogenicrs864622253GRCh37Chr 8, 90995027: 90995028
16NBNNM_002485.4(NBN): c.1419_1431dupAGAAATGTCTTCA (p.Cys478Argfs)duplicationPathogenicrs864622333GRCh37Chr 8, 90965886: 90965898
17NBNNM_002485.4(NBN): c.115delC (p.Gln39Serfs)deletionPathogenicrs864622511GRCh37Chr 8, 90995006: 90995006
18NBNNM_002485.4(NBN): c.995-2A> Gsingle nucleotide variantLikely pathogenicrs876659521GRCh37Chr 8, 90971084: 90971084
19NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenic, risk factorrs587776650GRCh37Chr 8, 90983442: 90983446
20NBNNM_002485.4(NBN): c.835_838delCAGA (p.Gln279Profs)deletionPathogenicrs864309668GRCh38Chr 8, 89970422: 89970425
21NBNNM_002485.4(NBN): c.842dupT (p.Leu281Phefs)duplicationPathogenicrs864309669GRCh38Chr 8, 89970418: 89970418
22NBNNM_002485.4(NBN): c.976C> T (p.Gln326Ter)single nucleotide variantPathogenicrs121908973GRCh37Chr 8, 90976656: 90976656
23NBNNM_002485.4(NBN): c.1089C> A (p.Tyr363Ter)single nucleotide variantPathogenicrs121908974GRCh37Chr 8, 90970988: 90970988
24NBNNM_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 44)
idSuper pathwaysScoreTop Affiliating Genes
19.9MRE11A, NBN
2
Show member pathways
9.6MRE11A, NBN, RAD50
39.3ATM, TP53
49.2ATM, MRE11A, NBN, RAD50
59.2BRCA1, TP53
69.0CHEK2, TP53
78.8ATM, MRE11A, NBN, RAD50, WRN
88.8ATM, H2AFX, TP53
9
Show member pathways
8.8ATM, ATR, TP53
108.8ATM, ATR, TP53
11
Show member pathways
8.7ATM, CHEK2, TP53
128.5ATM, ATR, CHEK2, H2AFX
13
Show member pathways
8.4ATM, BRCA1, MRE11A, NBN, RAD50, WRN
148.3BRCA1, LIG4, MRE11A, NBN, RAD50, WRN
158.3ATM, ATR, BRCA1, TP53
168.3ATM, ATR, BRCA1, TP53
17
Show member pathways
8.2ATM, ATR, CHEK2, TP53
18
Show member pathways
8.2ATM, ATR, CHEK2, TP53
198.2ATM, ATR, CHEK2, TP53
208.2ATM, ATR, CHEK2, TP53
21
Show member pathways
8.2ATM, ATR, CHEK2, TP53
22
Show member pathways
8.2ATM, ATR, CHEK2, TP53
23
Show member pathways
7.8ATM, ATR, BRCA1, MRE11A, NBN, RAD50
24
Show member pathways
7.7ATM, ATR, BRCA1, H2AFX, MRE11A, NBN
25
Show member pathways
7.7ATM, ATR, BRCA1, CHEK2, TP53
267.4ATM, ATR, BRCA1, CHEK2, NBN, TP53
277.4ATM, ATR, BRCA1, MRE11A, NBN, RAD50
28
Show member pathways
7.4ATM, ATR, H2AFX, MRE11A, NBN, RAD50
297.2ATM, BRCA1, CHEK2, MRE11A, RAD50, TP53
30
Show member pathways
7.1ATM, ATR, BRCA1, CHEK2, MRE11A, RAD50
317.1ATM, ATR, BRCA1, CHEK2, MRE11A, RAD50
32
Show member pathways
6.9ATM, ATR, BRCA1, H2AFX, MRE11A, NBN
33
Show member pathways
6.8ATM, BRCA1, CHEK2, H2AFX, MRE11A, NBN
34
Show member pathways
6.8ATM, ATR, BRCA1, CHEK2, MRE11A, NBN
35
Show member pathways
6.4ATM, BRCA1, CHEK2, H2AFX, LIG4, MRE11A
36
Show member pathways
6.4ATM, ATR, BRCA1, CHEK2, LIG4, MRE11A
37
Show member pathways
6.4ATM, ATR, BRCA1, CHEK2, MRE11A, NBN
38
Show member pathways
6.3ATM, ATR, BRCA1, CHEK2, H2AFX, MRE11A
39
Show member pathways
6.3ATM, ATR, BRCA1, CHEK2, H2AFX, MRE11A
40
Show member pathways
5.9ATM, ATR, BRCA1, CHEK2, H2AFX, MRE11A
41
Show member pathways
5.9ATM, ATR, BRCA1, CHEK2, H2AFX, MRE11A
42
Show member pathways
5.9ATM, ATR, BRCA1, CHEK2, H2AFX, MRE11A
43
Show member pathways
5.5ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4
445.5ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4

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:003087010.3MRE11A, NBN, RAD50
2condensed chromosomeGO:000079310.3BRCA1, LIG4
3site of double-strand breakGO:00358619.7H2AFX, MRE11A, NBN, RAD50
4chromosomeGO:00056949.5ATR, BRCA1, H2AFX
5condensed nuclear chromosomeGO:00007949.4BRCA1, H2AFX, MRE11A, RAD50
6replication forkGO:00056579.3H2AFX, NBN, TP53
7chromosome, telomeric regionGO:00007819.1ATM, CHEK2, H2AFX, MRE11A
8nuclear chromatinGO:00007909.0H2AFX, MRE11A, RAD50, TP53
9PML bodyGO:00166058.5ATR, CHEK2, MRE11A, NBN, TP53
10nuclear chromosome, telomeric regionGO:00007848.4ATM, ATR, LIG4, MRE11A, NBN, RAD50
11nucleusGO:00056346.3ATM, BRCA1, CHEK2, H2AFX, LIG4, MRE11A
12nucleoplasmGO:00056545.2ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4

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

(show top 50)    (show all 58)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic recombinationGO:000001910.6MRE11A, RAD50
2mitotic G2 DNA damage checkpointGO:000709510.5MRE11A, NBN
3isotype switchingGO:004519010.4LIG4, NBN
4establishment of macromolecular complex localization to telomereGO:009769510.3ATM, ATR
5establishment of RNA localization to telomereGO:009769410.3ATM, ATR
6positive regulation of telomerase catalytic core complex assemblyGO:190488410.3ATM, ATR
7chromosome organizationGO:005127610.2LIG4, MRE11A
8negative regulation of telomere cappingGO:190435410.2ATM, NBN, RAD50
9positive regulation of protein autophosphorylationGO:003195410.2MRE11A, NBN, RAD50
10V(D)J recombinationGO:003315110.2ATM, LIG4
11positive regulation of DNA repairGO:004573910.1BRCA1, H2AFX
12positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.1ATM, ATR
13DNA damage induced protein phosphorylationGO:000697510.1ATM, CHEK2
14replicative cell agingGO:000130210.0CHEK2, WRN
15telomeric 3 overhang formationGO:003186010.0MRE11A, NBN, RAD50
16DNA damage response, signal transduction by p53 class mediatorGO:003033010.0NBN, TP53
17determination of adult lifespanGO:000834010.0ATM, TP53
18telomere maintenance via telomeraseGO:00070049.9ATM, MRE11A, RAD50
19reciprocal meiotic recombinationGO:00071319.9ATM, MRE11A, RAD50
20response to X-rayGO:00101659.9LIG4, TP53
21positive regulation of telomere maintenanceGO:00322069.8MRE11A, NBN, RAD50
22DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.8BRCA1, TP53
23telomere maintenanceGO:00007239.8NBN, RAD50, WRN
24positive regulation of cell cycle arrestGO:00711589.7BRCA1, TP53
25intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.6ATM, BRCA1, CHEK2
26positive regulation of kinase activityGO:00336749.6MRE11A, NBN, RAD50
27DNA duplex unwindingGO:00325089.5MRE11A, NBN, RAD50, WRN
28cell cycle arrestGO:00070509.4ATM, NBN, TP53
29nucleic acid phosphodiester bond hydrolysisGO:00903059.4MRE11A, RAD50, WRN
30protein sumoylationGO:00169259.4BRCA1, TP53, WRN
31DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.2ATM, CHEK2, TP53
32cellular response to gamma radiationGO:00714809.2ATM, ATR, H2AFX, WRN
33peptidyl-serine phosphorylationGO:00181059.2ATM, ATR, CHEK2
34response to gamma radiationGO:00103329.2CHEK2, LIG4, TP53
35DNA damage checkpointGO:00000779.1ATR, CHEK2, H2AFX, NBN
36DNA double-strand break processingGO:00007299.1ATM, BRCA1, MRE11A, NBN, RAD50
37response to ionizing radiationGO:00102128.9ATM, BRCA1, H2AFX, LIG4
38double-strand break repair via homologous recombinationGO:00007248.9ATM, BRCA1, H2AFX, MRE11A, NBN, RAD50
39regulation of apoptotic processGO:00429818.8ATM, BRCA1, TP53, WRN
40viral processGO:00160328.8H2AFX, MRE11A, RAD50, TP53
41replicative senescenceGO:00903998.7ATM, ATR, CHEK2, TP53
42strand displacementGO:00007328.7ATM, BRCA1, MRE11A, NBN, RAD50, WRN
43DNA synthesis involved in DNA repairGO:00007318.7ATM, BRCA1, MRE11A, NBN, RAD50, WRN
44cell proliferationGO:00082838.6LIG4, MRE11A, NBN, TP53
45DNA repairGO:00062818.5ATM, ATR, H2AFX, LIG4, MRE11A, RAD50
46double-strand break repair via nonhomologous end joiningGO:00063038.3ATM, BRCA1, H2AFX, LIG4, MRE11A, NBN
47double-strand break repairGO:00063027.6BRCA1, CHEK2, H2AFX, LIG4, MRE11A, NBN
48DNA replicationGO:00062607.5ATM, ATR, BRCA1, MRE11A, NBN, RAD50
49regulation of signal transduction by p53 class mediatorGO:19017966.7ATM, ATR, BRCA1, CHEK2, MRE11A, NBN
50cellular response to DNA damage stimulusGO:00069746.5ATM, ATR, BRCA1, CHEK2, H2AFX, MRE11A

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA endodeoxyribonuclease activityGO:000001410.5MRE11A, RAD50
2G-quadruplex DNA bindingGO:005188010.3RAD50, WRN
33-5 exonuclease activityGO:000840810.2MRE11A, RAD50, WRN
4ATP-dependent DNA helicase activityGO:00040039.7MRE11A, NBN, RAD50, WRN
5protein N-terminus bindingGO:00474859.6ATM, NBN, TP53
6damaged DNA bindingGO:00036849.0BRCA1, H2AFX, NBN, TP53
7ATP bindingGO:00055247.3ATM, ATR, CHEK2, LIG4, RAD50, TP53
8DNA bindingGO:00036776.4ATM, ATR, BRCA1, H2AFX, LIG4, MRE11A
9protein bindingGO:00055155.2ATM, ATR, BRCA1, CHEK2, H2AFX, LIG4

Sources for Nijmegen Breakage Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet