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NBSLD
MCID: NJM002
MIFTS: 36

Nijmegen Breakage Syndrome-Like Disorder (NBSLD)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Nijmegen Breakage Syndrome-Like Disorder

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MalaCards integrated aliases for Nijmegen Breakage Syndrome-Like Disorder:

Name: Nijmegen Breakage Syndrome-Like Disorder 57 59 74 29 13 6 40 72
Nbs-Like Disorder 57 59 74
Rad50 Deficiency 57 59 74
Nbsld 57 59 74
Microcephaly and Spontaneous Chromosome Instability Without Immunodeficiency 57 74
Microcephaly and Chromosomal Instability Without Immunodeficiency 59

Characteristics:

HPO:

32
nijmegen breakage syndrome-like disorder:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Immune diseases Neuronal diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

OMIM 57 613078
MeSH 44 D049914
UMLS via Orphanet 73 C2751318
Orphanet 59 ORPHA240760
MedGen 42 C2751318
UMLS 72 C2751318
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Summaries for Nijmegen Breakage Syndrome-Like Disorder

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UniProtKB/Swiss-Prot : 74 Nijmegen breakage syndrome-like disorder: A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent.

MalaCards based summary : Nijmegen Breakage Syndrome-Like Disorder, also known as nbs-like disorder, is related to nijmegen breakage syndrome and ataxia-telangiectasia. An important gene associated with Nijmegen Breakage Syndrome-Like Disorder is RAD50 (RAD50 Double Strand Break Repair Protein), and among its related pathways/superpathways are DNA Damage Response and DNA Double Strand Break Response. Related phenotypes are intellectual disability and ataxia

More information from OMIM: 613078
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Related Diseases for Nijmegen Breakage Syndrome-Like Disorder

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Diseases in the Nijmegen Breakage Syndrome family:

Nijmegen Breakage Syndrome-Like Disorder

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

# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 30.1 RAD50 MRE11
2 ataxia-telangiectasia 29.8 RAD50 MRE11
3 ataxia and polyneuropathy, adult-onset 10.2
4 ataxia-telangiectasia-like disorder 1 10.2
5 telangiectasis 10.2
6 microcephaly 10.2
7 alpha-thalassemia/mental retardation syndrome, x-linked 9.8 RAD50 MRE11
8 hereditary breast ovarian cancer syndrome 9.8 RAD50 MRE11
9 fanconi anemia, complementation group a 9.5 RAD50 MRE11

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



Diseases related to Nijmegen Breakage Syndrome-Like Disorder
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Symptoms & Phenotypes for Nijmegen Breakage Syndrome-Like Disorder

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Human phenotypes related to Nijmegen Breakage Syndrome-Like Disorder:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 spasticity 32 HP:0001257
4 microcephaly 32 HP:0000252
5 short stature 32 HP:0004322
6 chromosomal breakage induced by ionizing radiation 32 HP:0010997
7 hypermetropia 32 HP:0000540

Clinical features from OMIM:

613078

MGI Mouse Phenotypes related to Nijmegen Breakage Syndrome-Like Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.8 IL5 MRE11 RAD50
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Drugs & Therapeutics for Nijmegen Breakage Syndrome-Like Disorder

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Search Clinical Trials , NIH Clinical Center for Nijmegen Breakage Syndrome-Like Disorder

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Genetic Tests for Nijmegen Breakage Syndrome-Like Disorder

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Genetic tests related to Nijmegen Breakage Syndrome-Like Disorder:

# Genetic test Affiliating Genes
1 Nijmegen Breakage Syndrome-Like Disorder 29 RAD50
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Anatomical Context for Nijmegen Breakage Syndrome-Like Disorder

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Publications for Nijmegen Breakage Syndrome-Like Disorder

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Articles related to Nijmegen Breakage Syndrome-Like Disorder:

# Title Authors PMID Year
1
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 38 8 71
19409520 2009
2
Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. 8
1887849 1991
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Variations for Nijmegen Breakage Syndrome-Like Disorder

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ClinVar genetic disease variations for Nijmegen Breakage Syndrome-Like Disorder:

6 (show top 50) (show all 79)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAD50 NM_005732.4(RAD50): c.2116C> T (p.Arg706Ter) single nucleotide variant Pathogenic rs772468452 5:131931411-131931411 5:132595719-132595719
2 RAD50 NM_005732.4(RAD50): c.3939A> T (p.Ter1313Tyr) single nucleotide variant Pathogenic rs121912629 5:131978056-131978056 5:132642364-132642364
3 RAD50 NM_005732.4(RAD50): c.2165dup (p.Glu723fs) duplication Pathogenic rs397507178 5:131931460-131931460 5:132595768-132595768
4 RAD50 NM_005732.4(RAD50): c.904G> T (p.Glu302Ter) single nucleotide variant Pathogenic rs587782090 5:131923634-131923634 5:132587942-132587942
5 RAD50 NM_005732.4(RAD50): c.2498_2499del (p.Gln833fs) deletion Pathogenic rs587782895 5:131939712-131939713 5:132604020-132604021
6 RAD50 NM_005732.4(RAD50): c.1875C> G (p.Tyr625Ter) single nucleotide variant Pathogenic rs149201802 5:131930642-131930642 5:132594950-132594950
7 RAD50 NM_005732.4(RAD50): c.3489_3495del (p.Glu1164fs) deletion Pathogenic/Likely pathogenic rs878854799 5:131973786-131973792 5:132638094-132638100
8 RAD50 NM_005732.4(RAD50): c.561dup (p.Ala188fs) duplication Pathogenic/Likely pathogenic rs876659005 5:131915563-131915563 5:132579871-132579871
9 RAD50 NM_005732.4(RAD50): c.687del (p.Ser229fs) deletion Pathogenic/Likely pathogenic rs760146707 5:131915689-131915689 5:132579997-132579997
10 RAD50 NM_005732.4(RAD50): c.1174_1177del (p.Gln392fs) deletion Pathogenic/Likely pathogenic rs1554098250 5:131924501-131924504 5:132588809-132588812
11 RAD50 NM_005732.4(RAD50): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1247689593 5:131924420-131924420 5:132588728-132588728
12 RAD50 NM_005732.4(RAD50): c.3029_3032del (p.Thr1010fs) deletion Pathogenic/Likely pathogenic rs1060501941 5:131945081-131945084 5:132609389-132609392
13 RAD50 NM_005732.4(RAD50): c.3277C> T (p.Arg1093Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121912628 5:131953874-131953874 5:132618182-132618182
14 RAD50 NM_005732.4(RAD50): c.183del (p.Gly63fs) deletion Likely pathogenic rs1554096791 5:131895029-131895029 5:132559337-132559337
15 RAD50 NM_005732.4(RAD50): c.980G> A (p.Arg327His) single nucleotide variant Conflicting interpretations of pathogenicity rs28903091 5:131923710-131923710 5:132588018-132588018
16 RAD50 NM_005732.4(RAD50): c.3036+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181016343 5:131945093-131945093 5:132609401-132609401
17 RAD50 NM_005732.4(RAD50): c.1534G> T (p.Ala512Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147366706 5:131926997-131926997 5:132591305-132591305
18 RAD50 NM_005732.4(RAD50): c.1094G> A (p.Arg365Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146370443 5:131924421-131924421 5:132588729-132588729
19 RAD50 NM_005732.4(RAD50): c.1211A> G (p.Gln404Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200017020 5:131924538-131924538 5:132588846-132588846
20 RAD50 NM_005732.4(RAD50): c.260G> A (p.Arg87His) single nucleotide variant Conflicting interpretations of pathogenicity rs374561375 5:131911515-131911515 5:132575823-132575823
21 RAD50 NM_005732.4(RAD50): c.2647C> T (p.Arg883Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138749920 5:131940620-131940620 5:132604928-132604928
22 RAD50 NM_005732.4(RAD50): c.379G> A (p.Val127Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs28903086 5:131915022-131915022 5:132579330-132579330
23 RAD50 NM_005732.4(RAD50): c.3790C> T (p.Leu1264Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs199579239 5:131977907-131977907 5:132642215-132642215
24 RAD50 NM_005732.4(RAD50): c.1336A> G (p.Lys446Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149217423 5:131925413-131925413 5:132589721-132589721
25 RAD50 NM_005732.4(RAD50): c.1580A> G (p.Gln527Arg) single nucleotide variant Uncertain significance rs1554098420 5:131927043-131927043 5:132591351-132591351
26 RAD50 NM_005732.4(RAD50): c.2530A> C (p.Ser844Arg) single nucleotide variant Uncertain significance rs373817937 5:131940503-131940503 5:132604811-132604811
27 RAD50 NM_005732.4(RAD50): c.3836G> A (p.Arg1279His) single nucleotide variant Uncertain significance rs375710541 5:131977953-131977953 5:132642261-132642261
28 RAD50 NM_005732.4(RAD50): c.1721A> G (p.Lys574Arg) single nucleotide variant Uncertain significance rs1386858430 5:131927654-131927654 5:132591962-132591962
29 RAD50 NM_005732.4(RAD50): c.1402G> A (p.Glu468Lys) single nucleotide variant Uncertain significance rs145031602 5:131925479-131925479 5:132589787-132589787
30 RAD50 NM_005732.4(RAD50): c.214G> A (p.Val72Ile) single nucleotide variant Uncertain significance rs118029772 5:131911469-131911469 5:132575777-132575777
31 RAD50 NM_005732.4(RAD50): c.1677C> G (p.His559Gln) single nucleotide variant Uncertain significance rs142619269 5:131927610-131927610 5:132591918-132591918
32 RAD50 NM_005732.4(RAD50): c.1604G> A (p.Arg535His) single nucleotide variant Uncertain significance rs200548021 5:131927067-131927067 5:132591375-132591375
33 RAD50 NM_005732.4(RAD50): c.785T> G (p.Leu262Arg) single nucleotide variant Uncertain significance rs201728859 5:131923282-131923282 5:132587590-132587590
34 RAD50 NM_005732.4(RAD50): c.2047G> A (p.Val683Ile) single nucleotide variant Uncertain significance rs367925756 5:131931342-131931342 5:132595650-132595650
35 RAD50 NM_005732.4(RAD50): c.2209C> G (p.Gln737Glu) single nucleotide variant Uncertain significance rs549559726 5:131938993-131938993 5:132603301-132603301
36 RAD50 NM_005732.4(RAD50): c.1457G> A (p.Arg486His) single nucleotide variant Uncertain significance rs776949511 5:131926920-131926920 5:132591228-132591228
37 RAD50 NM_005732.4(RAD50): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs769853458 5:131915588-131915588 5:132579896-132579896
38 RAD50 NM_005732.4(RAD50): c.1192A> G (p.Lys398Glu) single nucleotide variant Uncertain significance rs756173890 5:131924519-131924519 5:132588827-132588827
39 RAD50 NM_005732.4(RAD50): c.2204T> A (p.Met735Lys) single nucleotide variant Uncertain significance rs757043253 5:131931499-131931499 5:132595807-132595807
40 RAD50 NM_005732.4(RAD50): c.2836G> A (p.Asp946Asn) single nucleotide variant Uncertain significance rs766657227 5:131944815-131944815 5:132609123-132609123
41 RAD50 NM_005732.4(RAD50): c.3206G> T (p.Arg1069Ile) single nucleotide variant Uncertain significance rs769003601 5:131953803-131953803 5:132618111-132618111
42 RAD50 NM_005732.4(RAD50): c.1876G> A (p.Glu626Lys) single nucleotide variant Uncertain significance rs763432574 5:131930643-131930643 5:132594951-132594951
43 RAD50 NM_005732.4(RAD50): c.3806_3807del (p.His1269fs) deletion Uncertain significance rs1085307088 5:131977923-131977924 5:132642231-132642232
44 RAD50 NM_005732.4(RAD50): c.217G> A (p.Ala73Thr) single nucleotide variant Uncertain significance rs371122101 5:131911472-131911472 5:132575780-132575780
45 RAD50 NM_005732.4(RAD50): c.2840T> C (p.Ile947Thr) single nucleotide variant Uncertain significance rs150401251 5:131944819-131944819 5:132609127-132609127
46 RAD50 NM_005732.4(RAD50): c.3467G> A (p.Arg1156His) single nucleotide variant Uncertain significance rs587780156 5:131972884-131972884 5:132637192-132637192
47 RAD50 NM_005732.4(RAD50): c.1277A> G (p.Gln426Arg) single nucleotide variant Uncertain significance rs145428112 5:131925354-131925354 5:132589662-132589662
48 RAD50 NM_005732.4(RAD50): c.2177G> A (p.Arg726His) single nucleotide variant Uncertain significance rs28903092 5:131931472-131931472 5:132595780-132595780
49 RAD50 NM_005732.4(RAD50): c.2397G> C (p.Gln799His) single nucleotide variant Uncertain significance rs61749630 5:131939181-131939181 5:132603489-132603489
50 RAD50 NM_005732.4(RAD50): c.2548C> T (p.Arg850Cys) single nucleotide variant Uncertain significance rs181961360 5:131940521-131940521 5:132604829-132604829
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Expression for Nijmegen Breakage Syndrome-Like Disorder

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Search GEO for disease gene expression data for Nijmegen Breakage Syndrome-Like Disorder.
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Pathways for Nijmegen Breakage Syndrome-Like Disorder

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
DNA Damage Response 1
Show member pathways
 11.94 RAD50 MRE11
2
DNA Double Strand Break Response 66
Show member pathways
 11.92 RAD50 MRE11
3
DNA Damage/Telomere Stress Induced Senescence 66
Show member pathways
 11.9 RAD50 MRE11
4
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 11.83 RAD50 MRE11
5
Cellular senescence (KEGG) 37
11.71 RAD50 MRE11
6
Integrated Breast Cancer Pathway 1
11.68 RAD50 MRE11
7
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.5 RAD50 MRE11
8
ATM Pathway 64
Show member pathways
 11.4 RAD50 MRE11
9
BRCA1 Pathway 64
Show member pathways
 11.32 RAD50 MRE11
10
Regulation of Telomerase 1
11.19 RAD50 MRE11
11
DNA damage_Role of Brca1 and Brca2 in DNA repair 22
11.13 RAD50 MRE11
12
Integrated Cancer Pathway 1
10.98 RAD50 MRE11
13
ATM Signaling Network in Development and Disease 1
10.92 RAD50 MRE11
14
Telomere Extension by Telomerase 64
Show member pathways
 10.76 RAD50 MRE11
15
BARD1 signaling events 1
10.62 RAD50 MRE11
16
DNA damage_NHEJ mechanisms of DSBs repair 22
10.34 RAD50 MRE11
17
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 9.83 RAD50 MRE11
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GO Terms for Nijmegen Breakage Syndrome-Like Disorder

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.26 RAD50 MRE11
2 chromosome, telomeric region GO:0000781 9.16 RAD50 MRE11
3 site of double-strand break GO:0035861 8.96 RAD50 MRE11
4 Mre11 complex GO:0030870 8.62 RAD50 MRE11

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.57 RAD50 MRE11
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.56 RAD50 MRE11
3 meiotic cell cycle GO:0051321 9.55 RAD50 MRE11
4 DNA recombination GO:0006310 9.54 RAD50 MRE11
5 double-strand break repair via homologous recombination GO:0000724 9.52 RAD50 MRE11
6 double-strand break repair via nonhomologous end joining GO:0006303 9.51 RAD50 MRE11
7 double-strand break repair GO:0006302 9.49 RAD50 MRE11
8 DNA duplex unwinding GO:0032508 9.48 RAD50 MRE11
9 telomere maintenance GO:0000723 9.46 RAD50 MRE11
10 reciprocal meiotic recombination GO:0007131 9.43 RAD50 MRE11
11 telomere maintenance via telomerase GO:0007004 9.4 RAD50 MRE11
12 positive regulation of protein autophosphorylation GO:0031954 9.37 RAD50 MRE11
13 positive regulation of kinase activity GO:0033674 9.32 RAD50 MRE11
14 DNA double-strand break processing GO:0000729 9.26 RAD50 MRE11
15 positive regulation of telomere maintenance GO:0032206 9.16 RAD50 MRE11
16 telomeric 3' overhang formation GO:0031860 8.96 RAD50 MRE11
17 regulation of mitotic recombination GO:0000019 8.62 RAD50 MRE11

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent DNA helicase activity GO:0004003 9.32 RAD50 MRE11
2 3'-5' exonuclease activity GO:0008408 9.26 RAD50 MRE11
3 single-stranded DNA endodeoxyribonuclease activity GO:0000014 8.96 RAD50 MRE11
4 double-stranded telomeric DNA binding GO:0003691 8.85 RAD50
5 single-stranded telomeric DNA binding GO:0043047 8.32 RAD50
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Sources for Nijmegen Breakage Syndrome-Like Disorder

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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