NBSLD
MCID: NJM002
MIFTS: 32

Nijmegen Breakage Syndrome-Like Disorder (NBSLD)

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

Aliases & Classifications for Nijmegen Breakage Syndrome-Like Disorder

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:



External Ids:

OMIM 58 613078
MeSH 45 D049914
UMLS via Orphanet 75 C2751318
Orphanet 60 ORPHA240760
MedGen 43 C2751318
UMLS 74 C2751318

Summaries for Nijmegen Breakage Syndrome-Like Disorder

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

Related Diseases for Nijmegen Breakage Syndrome-Like Disorder

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

Symptoms & Phenotypes for Nijmegen Breakage Syndrome-Like Disorder

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

Drugs & Therapeutics for Nijmegen Breakage Syndrome-Like Disorder

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

Genetic Tests for Nijmegen Breakage Syndrome-Like Disorder

Genetic tests related to Nijmegen Breakage Syndrome-Like Disorder:

# Genetic test Affiliating Genes
1 Nijmegen Breakage Syndrome-Like Disorder 30 RAD50

Anatomical Context for Nijmegen Breakage Syndrome-Like Disorder

Publications for Nijmegen Breakage Syndrome-Like Disorder

Articles related to Nijmegen Breakage Syndrome-Like Disorder:

# Title Authors Year
1
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. ( 19409520 )
2009

Variations for Nijmegen Breakage Syndrome-Like Disorder

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

6 (show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAD50 NM_005732.3(RAD50): c.756+7delT deletion Benign/Likely benign rs377720482 GRCh38 Chromosome 5, 132580073: 132580073
2 RAD50 NM_005732.3(RAD50): c.756+7delT deletion Benign/Likely benign rs377720482 GRCh37 Chromosome 5, 131915765: 131915765
3 RAD50 NM_005732.3(RAD50): c.885+11G> A single nucleotide variant Benign rs117081789 GRCh38 Chromosome 5, 132587701: 132587701
4 RAD50 NM_005732.3(RAD50): c.885+11G> A single nucleotide variant Benign rs117081789 GRCh37 Chromosome 5, 131923393: 131923393
5 RAD50 NM_005732.3(RAD50): c.204C> T (p.His68=) single nucleotide variant Likely benign rs28903084 GRCh38 Chromosome 5, 132559358: 132559358
6 RAD50 NM_005732.3(RAD50): c.204C> T (p.His68=) single nucleotide variant Likely benign rs28903084 GRCh37 Chromosome 5, 131895050: 131895050
7 RAD50 NM_005732.3(RAD50): c.687delT (p.Ser229Argfs) deletion Pathogenic/Likely pathogenic rs760146707 GRCh37 Chromosome 5, 131915689: 131915689
8 RAD50 NM_005732.3(RAD50): c.687delT (p.Ser229Argfs) deletion Pathogenic/Likely pathogenic rs760146707 GRCh38 Chromosome 5, 132579997: 132579997
9 RAD50 NM_005732.3(RAD50): c.3153G> A (p.Leu1051=) single nucleotide variant Benign/Likely benign rs35800931 GRCh38 Chromosome 5, 132616119: 132616119
10 RAD50 NM_005732.3(RAD50): c.3153G> A (p.Leu1051=) single nucleotide variant Benign/Likely benign rs35800931 GRCh37 Chromosome 5, 131951811: 131951811
11 RAD50 NM_005732.3(RAD50): c.3846T> C (p.Tyr1282=) single nucleotide variant Benign rs1804670 GRCh38 Chromosome 5, 132642271: 132642271
12 RAD50 NM_005732.3(RAD50): c.3846T> C (p.Tyr1282=) single nucleotide variant Benign rs1804670 GRCh37 Chromosome 5, 131977963: 131977963
13 RAD50 NM_005732.3(RAD50): c.3165-8T> G single nucleotide variant Benign/Likely benign rs369581851 GRCh38 Chromosome 5, 132618062: 132618062
14 RAD50 NM_005732.3(RAD50): c.3165-8T> G single nucleotide variant Benign/Likely benign rs369581851 GRCh37 Chromosome 5, 131953754: 131953754
15 RAD50 NM_005732.3(RAD50): c.1875C> G (p.Tyr625Ter) single nucleotide variant Pathogenic rs149201802 GRCh38 Chromosome 5, 132594950: 132594950
16 RAD50 NM_005732.3(RAD50): c.1875C> G (p.Tyr625Ter) single nucleotide variant Pathogenic rs149201802 GRCh37 Chromosome 5, 131930642: 131930642
17 RAD50 NM_005732.3(RAD50): c.3277C> T (p.Arg1093Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121912628 GRCh37 Chromosome 5, 131953874: 131953874
18 RAD50 NM_005732.3(RAD50): c.3277C> T (p.Arg1093Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121912628 GRCh38 Chromosome 5, 132618182: 132618182
19 RAD50 NM_005732.3(RAD50): c.3939A> T (p.Ter1313Tyr) single nucleotide variant Pathogenic rs121912629 GRCh37 Chromosome 5, 131978056: 131978056
20 RAD50 NM_005732.3(RAD50): c.3939A> T (p.Ter1313Tyr) single nucleotide variant Pathogenic rs121912629 GRCh38 Chromosome 5, 132642364: 132642364
21 RAD50 NM_005732.3(RAD50): c.980G> A (p.Arg327His) single nucleotide variant Conflicting interpretations of pathogenicity rs28903091 GRCh37 Chromosome 5, 131923710: 131923710
22 RAD50 NM_005732.3(RAD50): c.980G> A (p.Arg327His) single nucleotide variant Conflicting interpretations of pathogenicity rs28903091 GRCh38 Chromosome 5, 132588018: 132588018
23 RAD50 NM_005732.3(RAD50): c.3036+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181016343 GRCh37 Chromosome 5, 131945093: 131945093
24 RAD50 NM_005732.3(RAD50): c.3036+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181016343 GRCh38 Chromosome 5, 132609401: 132609401
25 RAD50 NM_005732.3(RAD50): c.572C> T (p.Thr191Ile) single nucleotide variant Benign/Likely benign rs2230017 GRCh37 Chromosome 5, 131915574: 131915574
26 RAD50 NM_005732.3(RAD50): c.572C> T (p.Thr191Ile) single nucleotide variant Benign/Likely benign rs2230017 GRCh38 Chromosome 5, 132579882: 132579882
27 RAD50 NM_005732.3(RAD50): c.3879C> T (p.Ile1293=) single nucleotide variant Benign/Likely benign rs28903094 GRCh37 Chromosome 5, 131977996: 131977996
28 RAD50 NM_005732.3(RAD50): c.3879C> T (p.Ile1293=) single nucleotide variant Benign/Likely benign rs28903094 GRCh38 Chromosome 5, 132642304: 132642304
29 RAD50 NM_005732.3(RAD50): c.2910C> T (p.Asp970=) single nucleotide variant Benign/Likely benign rs148269640 GRCh37 Chromosome 5, 131944889: 131944889
30 RAD50 NM_005732.3(RAD50): c.2910C> T (p.Asp970=) single nucleotide variant Benign/Likely benign rs148269640 GRCh38 Chromosome 5, 132609197: 132609197
31 RAD50 NM_005732.3(RAD50): c.214-44G> A single nucleotide variant Benign rs74769721 GRCh38 Chromosome 5, 132575733: 132575733
32 RAD50 NM_005732.3(RAD50): c.214-44G> A single nucleotide variant Benign rs74769721 NCBI36 Chromosome 5, 131939324: 131939324
33 RAD50 NM_005732.3(RAD50): c.214-44G> A single nucleotide variant Benign rs74769721 GRCh37 Chromosome 5, 131911425: 131911425
34 RAD50 NM_005732.3(RAD50): c.551+85A> G single nucleotide variant Benign rs75639632 GRCh38 Chromosome 5, 132579587: 132579587
35 RAD50 NM_005732.3(RAD50): c.551+85A> G single nucleotide variant Benign rs75639632 NCBI36 Chromosome 5, 131943178: 131943178
36 RAD50 NM_005732.3(RAD50): c.551+85A> G single nucleotide variant Benign rs75639632 GRCh37 Chromosome 5, 131915279: 131915279
37 RAD50 NM_005732.3(RAD50): c.1052-38C> T single nucleotide variant Benign rs104895045 GRCh38 Chromosome 5, 132588649: 132588649
38 RAD50 NM_005732.3(RAD50): c.1052-38C> T single nucleotide variant Benign rs104895045 NCBI36 Chromosome 5, 131952240: 131952240
39 RAD50 NM_005732.3(RAD50): c.1052-38C> T single nucleotide variant Benign rs104895045 GRCh37 Chromosome 5, 131924341: 131924341
40 RAD50 NM_005732.3(RAD50): c.3165-4A> T single nucleotide variant Benign rs104895050 GRCh38 Chromosome 5, 132618066: 132618066
41 RAD50 NM_005732.3(RAD50): c.3165-4A> T single nucleotide variant Benign rs104895050 NCBI36 Chromosome 5, 131981657: 131981657
42 RAD50 NM_005732.3(RAD50): c.3165-4A> T single nucleotide variant Benign rs104895050 GRCh37 Chromosome 5, 131953758: 131953758
43 RAD50 NM_005732.3(RAD50): c.1094G> A (p.Arg365Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146370443 GRCh38 Chromosome 5, 132588729: 132588729
44 RAD50 NM_005732.3(RAD50): c.1094G> A (p.Arg365Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146370443 GRCh37 Chromosome 5, 131924421: 131924421
45 RAD50 NM_005732.3(RAD50): c.1211A> G (p.Gln404Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200017020 GRCh38 Chromosome 5, 132588846: 132588846
46 RAD50 NM_005732.3(RAD50): c.1211A> G (p.Gln404Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200017020 GRCh37 Chromosome 5, 131924538: 131924538
47 RAD50 NM_005732.3(RAD50): c.1277A> G (p.Gln426Arg) single nucleotide variant Uncertain significance rs145428112 GRCh38 Chromosome 5, 132589662: 132589662
48 RAD50 NM_005732.3(RAD50): c.1277A> G (p.Gln426Arg) single nucleotide variant Uncertain significance rs145428112 GRCh37 Chromosome 5, 131925354: 131925354
49 RAD50 NM_005732.3(RAD50): c.1534G> T (p.Ala512Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147366706 GRCh38 Chromosome 5, 132591305: 132591305
50 RAD50 NM_005732.3(RAD50): c.1534G> T (p.Ala512Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147366706 GRCh37 Chromosome 5, 131926997: 131926997

Expression for Nijmegen Breakage Syndrome-Like Disorder

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

Pathways for Nijmegen Breakage Syndrome-Like Disorder

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1 12.06 MRE11 RAD50
2
Show member pathways
12.05 MRE11 RAD50
3
Show member pathways
11.95 MRE11 RAD50
4
Show member pathways
11.93 MRE11 RAD50
5
Show member pathways
11.91 MRE11 RAD50
6
Show member pathways
11.85 MRE11 RAD50
7 11.73 MRE11 RAD50
8 11.7 MRE11 RAD50
9
Show member pathways
11.68 MRE11 RAD50
10
Show member pathways
11.5 MRE11 RAD50
11
Show member pathways
11.4 MRE11 RAD50
12
Show member pathways
11.32 MRE11 RAD50
13 11.19 MRE11 RAD50
14 11.14 MRE11 RAD50
15 10.98 MRE11 RAD50
16 10.92 MRE11 RAD50
17
Show member pathways
10.76 MRE11 RAD50
18 10.62 MRE11 RAD50
19 10.34 MRE11 RAD50
20
Show member pathways
9.83 MRE11 RAD50

GO Terms for Nijmegen Breakage Syndrome-Like Disorder

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

Sources for Nijmegen Breakage Syndrome-Like Disorder

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
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