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NBSLD
MCID: NJM002
MIFTS: 29

Nijmegen Breakage Syndrome-Like Disorder (NBSLD)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare 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 58 60 76 30 13 6 41 74
Nbs-Like Disorder 58 60 76
Rad50 Deficiency 58 60 76
Nbsld 58 60 76
Microcephaly and Spontaneous Chromosome Instability Without Immunodeficiency 58 76
Microcephaly and Chromosomal Instability Without Immunodeficiency 60

Characteristics:

HPO:

33
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
See all MalaCards categories (disease lists)
Orphanet: 60  
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

OMIM 58 613078
MeSH 45 D049914
UMLS via Orphanet 75 C2751318
Orphanet 60 ORPHA240760
MedGen 43 C2751318
UMLS 74 C2751318
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Summaries for Nijmegen Breakage Syndrome-Like Disorder

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UniProtKB/Swiss-Prot : 76 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 alpha-thalassemia/mental retardation syndrome, x-linked. 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 and Meiosis. Related phenotypes are intellectual disability and ataxia

Description 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 MRE11 RAD50
2 alpha-thalassemia/mental retardation syndrome, x-linked 9.8 MRE11 RAD50
3 hereditary breast ovarian cancer syndrome 9.8 MRE11 RAD50
4 ataxia-telangiectasia 9.7 MRE11 RAD50
5 fanconi anemia, complementation group a 9.6 MRE11 RAD50

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 ataxia 33 HP:0001251
3 spasticity 33 HP:0001257
4 microcephaly 33 HP:0000252
5 short stature 33 HP:0004322
6 chromosomal breakage induced by ionizing radiation 33 HP:0010997
7 hypermetropia 33 HP:0000540

Clinical features from OMIM:

613078
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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 30 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 Year
1
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. ( 19409520 )
2009
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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 160)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAD50 NM_005732.3(RAD50): c.3277C> T (p.Arg1093Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121912628 GRCh37 Chromosome 5, 131953874: 131953874
2 RAD50 NM_005732.3(RAD50): c.3277C> T (p.Arg1093Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121912628 GRCh38 Chromosome 5, 132618182: 132618182
3 RAD50 NM_005732.3(RAD50): c.3939A> T (p.Ter1313Tyr) single nucleotide variant Pathogenic rs121912629 GRCh37 Chromosome 5, 131978056: 131978056
4 RAD50 NM_005732.3(RAD50): c.3939A> T (p.Ter1313Tyr) single nucleotide variant Pathogenic rs121912629 GRCh38 Chromosome 5, 132642364: 132642364
5 RAD50 NM_005732.3(RAD50): c.980G> A (p.Arg327His) single nucleotide variant Conflicting interpretations of pathogenicity rs28903091 GRCh37 Chromosome 5, 131923710: 131923710
6 RAD50 NM_005732.3(RAD50): c.980G> A (p.Arg327His) single nucleotide variant Conflicting interpretations of pathogenicity rs28903091 GRCh38 Chromosome 5, 132588018: 132588018
7 RAD50 NM_005732.3(RAD50): c.3036+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181016343 GRCh37 Chromosome 5, 131945093: 131945093
8 RAD50 NM_005732.3(RAD50): c.3036+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181016343 GRCh38 Chromosome 5, 132609401: 132609401
9 RAD50 NM_005732.3(RAD50): c.572C> T (p.Thr191Ile) single nucleotide variant Benign/Likely benign rs2230017 GRCh37 Chromosome 5, 131915574: 131915574
10 RAD50 NM_005732.3(RAD50): c.572C> T (p.Thr191Ile) single nucleotide variant Benign/Likely benign rs2230017 GRCh38 Chromosome 5, 132579882: 132579882
11 RAD50 NM_005732.3(RAD50): c.3879C> T (p.Ile1293=) single nucleotide variant Benign/Likely benign rs28903094 GRCh37 Chromosome 5, 131977996: 131977996
12 RAD50 NM_005732.3(RAD50): c.3879C> T (p.Ile1293=) single nucleotide variant Benign/Likely benign rs28903094 GRCh38 Chromosome 5, 132642304: 132642304
13 RAD50 NM_005732.3(RAD50): c.2910C> T (p.Asp970=) single nucleotide variant Benign/Likely benign rs148269640 GRCh37 Chromosome 5, 131944889: 131944889
14 RAD50 NM_005732.3(RAD50): c.2910C> T (p.Asp970=) single nucleotide variant Benign/Likely benign rs148269640 GRCh38 Chromosome 5, 132609197: 132609197
15 RAD50 NM_005732.3(RAD50): c.214-44G> A single nucleotide variant Benign rs74769721 GRCh38 Chromosome 5, 132575733: 132575733
16 RAD50 NM_005732.3(RAD50): c.214-44G> A single nucleotide variant Benign rs74769721 NCBI36 Chromosome 5, 131939324: 131939324
17 RAD50 NM_005732.3(RAD50): c.214-44G> A single nucleotide variant Benign rs74769721 GRCh37 Chromosome 5, 131911425: 131911425
18 RAD50 NM_005732.3(RAD50): c.551+85A> G single nucleotide variant Benign rs75639632 GRCh38 Chromosome 5, 132579587: 132579587
19 RAD50 NM_005732.3(RAD50): c.551+85A> G single nucleotide variant Benign rs75639632 NCBI36 Chromosome 5, 131943178: 131943178
20 RAD50 NM_005732.3(RAD50): c.551+85A> G single nucleotide variant Benign rs75639632 GRCh37 Chromosome 5, 131915279: 131915279
21 RAD50 NM_005732.3(RAD50): c.1052-38C> T single nucleotide variant Benign rs104895045 GRCh38 Chromosome 5, 132588649: 132588649
22 RAD50 NM_005732.3(RAD50): c.1052-38C> T single nucleotide variant Benign rs104895045 NCBI36 Chromosome 5, 131952240: 131952240
23 RAD50 NM_005732.3(RAD50): c.1052-38C> T single nucleotide variant Benign rs104895045 GRCh37 Chromosome 5, 131924341: 131924341
24 RAD50 NM_005732.3(RAD50): c.3165-4A> T single nucleotide variant Benign rs104895050 GRCh38 Chromosome 5, 132618066: 132618066
25 RAD50 NM_005732.3(RAD50): c.3165-4A> T single nucleotide variant Benign rs104895050 NCBI36 Chromosome 5, 131981657: 131981657
26 RAD50 NM_005732.3(RAD50): c.3165-4A> T single nucleotide variant Benign rs104895050 GRCh37 Chromosome 5, 131953758: 131953758
27 RAD50 NM_005732.3(RAD50): c.1094G> A (p.Arg365Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146370443 GRCh38 Chromosome 5, 132588729: 132588729
28 RAD50 NM_005732.3(RAD50): c.1094G> A (p.Arg365Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146370443 GRCh37 Chromosome 5, 131924421: 131924421
29 RAD50 NM_005732.3(RAD50): c.1211A> G (p.Gln404Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200017020 GRCh38 Chromosome 5, 132588846: 132588846
30 RAD50 NM_005732.3(RAD50): c.1211A> G (p.Gln404Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200017020 GRCh37 Chromosome 5, 131924538: 131924538
31 RAD50 NM_005732.3(RAD50): c.1277A> G (p.Gln426Arg) single nucleotide variant Uncertain significance rs145428112 GRCh38 Chromosome 5, 132589662: 132589662
32 RAD50 NM_005732.3(RAD50): c.1277A> G (p.Gln426Arg) single nucleotide variant Uncertain significance rs145428112 GRCh37 Chromosome 5, 131925354: 131925354
33 RAD50 NM_005732.3(RAD50): c.1534G> T (p.Ala512Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147366706 GRCh38 Chromosome 5, 132591305: 132591305
34 RAD50 NM_005732.3(RAD50): c.1534G> T (p.Ala512Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147366706 GRCh37 Chromosome 5, 131926997: 131926997
35 RAD50 NM_005732.3(RAD50): c.2177G> A (p.Arg726His) single nucleotide variant Uncertain significance rs28903092 GRCh38 Chromosome 5, 132595780: 132595780
36 RAD50 NM_005732.3(RAD50): c.2177G> A (p.Arg726His) single nucleotide variant Uncertain significance rs28903092 GRCh37 Chromosome 5, 131931472: 131931472
37 RAD50 NM_005732.3(RAD50): c.2397G> C (p.Gln799His) single nucleotide variant Uncertain significance rs61749630 GRCh38 Chromosome 5, 132603489: 132603489
38 RAD50 NM_005732.3(RAD50): c.2397G> C (p.Gln799His) single nucleotide variant Uncertain significance rs61749630 GRCh37 Chromosome 5, 131939181: 131939181
39 RAD50 NM_005732.3(RAD50): c.2548C> T (p.Arg850Cys) single nucleotide variant Uncertain significance rs181961360 GRCh38 Chromosome 5, 132604829: 132604829
40 RAD50 NM_005732.3(RAD50): c.2548C> T (p.Arg850Cys) single nucleotide variant Uncertain significance rs181961360 GRCh37 Chromosome 5, 131940521: 131940521
41 RAD50 NM_005732.3(RAD50): c.260G> A (p.Arg87His) single nucleotide variant Conflicting interpretations of pathogenicity rs374561375 GRCh38 Chromosome 5, 132575823: 132575823
42 RAD50 NM_005732.3(RAD50): c.260G> A (p.Arg87His) single nucleotide variant Conflicting interpretations of pathogenicity rs374561375 GRCh37 Chromosome 5, 131911515: 131911515
43 RAD50 NM_005732.3(RAD50): c.2647C> T (p.Arg883Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138749920 GRCh38 Chromosome 5, 132604928: 132604928
44 RAD50 NM_005732.3(RAD50): c.2647C> T (p.Arg883Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138749920 GRCh37 Chromosome 5, 131940620: 131940620
45 RAD50 NM_005732.3(RAD50): c.280A> C (p.Ile94Leu) single nucleotide variant Benign/Likely benign rs28903085 GRCh38 Chromosome 5, 132575843: 132575843
46 RAD50 NM_005732.3(RAD50): c.280A> C (p.Ile94Leu) single nucleotide variant Benign/Likely benign rs28903085 GRCh37 Chromosome 5, 131911535: 131911535
47 RAD50 NM_005732.3(RAD50): c.2840T> C (p.Ile947Thr) single nucleotide variant Uncertain significance rs150401251 GRCh38 Chromosome 5, 132609127: 132609127
48 RAD50 NM_005732.3(RAD50): c.2840T> C (p.Ile947Thr) single nucleotide variant Uncertain significance rs150401251 GRCh37 Chromosome 5, 131944819: 131944819
49 RAD50 NM_005732.3(RAD50): c.3467G> A (p.Arg1156His) single nucleotide variant Uncertain significance rs587780156 GRCh38 Chromosome 5, 132637192: 132637192
50 RAD50 NM_005732.3(RAD50): c.3467G> A (p.Arg1156His) single nucleotide variant Uncertain significance rs587780156 GRCh37 Chromosome 5, 131972884: 131972884
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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 20)
# Super pathways Score Top Affiliating Genes
1
DNA Damage 4
12.06 MRE11 RAD50
2
Meiosis 67
Show member pathways
 12.05 MRE11 RAD50
3
DNA Damage Response 1
Show member pathways
 11.95 MRE11 RAD50
4
DNA Double Strand Break Response 67
Show member pathways
 11.93 MRE11 RAD50
5
DNA Damage/Telomere Stress Induced Senescence 67
Show member pathways
 11.91 MRE11 RAD50
6
Homologous DNA Pairing and Strand Exchange 67
Show member pathways
 11.85 MRE11 RAD50
7
Cellular senescence (KEGG) 38
11.73 MRE11 RAD50
8
Integrated Breast Cancer Pathway 1
11.7 MRE11 RAD50
9
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 67
Show member pathways
 11.68 MRE11 RAD50
10
Immune response IL-2 activation and signaling pathway 23
Show member pathways
 11.5 MRE11 RAD50
11
ATM Pathway 65
Show member pathways
 11.4 MRE11 RAD50
12
BRCA1 Pathway 65
Show member pathways
 11.32 MRE11 RAD50
13
Regulation of Telomerase 1
11.19 MRE11 RAD50
14
DNA damage_Role of Brca1 and Brca2 in DNA repair 23
11.14 MRE11 RAD50
15
ATM Signaling Network in Development and Disease 1
10.98 MRE11 RAD50
16
Integrated Cancer Pathway 1
10.92 MRE11 RAD50
17
Telomere Extension by Telomerase 65
Show member pathways
 10.76 MRE11 RAD50
18
BARD1 signaling events 1
10.62 MRE11 RAD50
19
DNA damage_NHEJ mechanisms of DSBs repair 23
10.34 MRE11 RAD50
20
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 9.83 MRE11 RAD50
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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 MRE11 RAD50
2 chromosome, telomeric region GO:0000781 9.16 MRE11 RAD50
3 site of double-strand break GO:0035861 8.96 MRE11 RAD50
4 Mre11 complex GO:0030870 8.62 MRE11 RAD50

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

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 MRE11 RAD50
2 3'-5' exonuclease activity GO:0008408 9.26 MRE11 RAD50
3 single-stranded DNA endodeoxyribonuclease activity GO:0000014 8.96 MRE11 RAD50
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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