MCID: NJM002
MIFTS: 31

Nijmegen Breakage Syndrome-Like Disorder

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

Aliases & Classifications for Nijmegen Breakage Syndrome-Like Disorder

MalaCards integrated aliases for Nijmegen Breakage Syndrome-Like Disorder:

Name: Nijmegen Breakage Syndrome-Like Disorder 57 59 75 29 13 6 40 73
Nbs-Like Disorder 57 59 75
Rad50 Deficiency 57 59 75
Nbsld 57 59 75
Microcephaly and Spontaneous Chromosome Instability Without Immunodeficiency 57 75
Microcephaly and Chromosomal Instability Without Immunodeficiency 59

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 613078
Orphanet 59 ORPHA240760
UMLS via Orphanet 74 C2751318
MedGen 42 C2751318
MeSH 44 D049914
UMLS 73 C2751318

Summaries for Nijmegen Breakage Syndrome-Like Disorder

UniProtKB/Swiss-Prot : 75 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 microcephaly and hypermetropia

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 29.6 MRE11 RAD50
2 alpha-thalassemia/mental retardation syndrome, x-linked 9.7 MRE11 RAD50
3 hereditary breast ovarian cancer syndrome 9.6 MRE11 RAD50
4 ataxia-telangiectasia 9.5 MRE11 RAD50
5 fanconi anemia, complementation group a 9.2 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

Clinical features from OMIM:

613078

Human phenotypes related to Nijmegen Breakage Syndrome-Like Disorder:

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

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 29 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 all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAD50 NM_005732.3(RAD50): c.3277C> T (p.Arg1093Ter) single nucleotide variant Pathogenic rs121912628 GRCh37 Chromosome 5, 131953874: 131953874
2 RAD50 NM_005732.3(RAD50): c.3277C> T (p.Arg1093Ter) single nucleotide variant 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.2165dupA (p.Glu723Glyfs) duplication Pathogenic rs587781454 GRCh37 Chromosome 5, 131931460: 131931460
6 RAD50 NM_005732.3(RAD50): c.2165dupA (p.Glu723Glyfs) duplication Pathogenic rs587781454 GRCh38 Chromosome 5, 132595768: 132595768
7 RAD50 NM_005732.3(RAD50): c.756+7delT deletion Benign/Likely benign rs377720482 GRCh38 Chromosome 5, 132580073: 132580073
8 RAD50 NM_005732.3(RAD50): c.756+7delT deletion Benign/Likely benign rs377720482 GRCh37 Chromosome 5, 131915765: 131915765
9 RAD50 NM_005732.3(RAD50): c.885+11G> A single nucleotide variant Benign rs117081789 GRCh38 Chromosome 5, 132587701: 132587701
10 RAD50 NM_005732.3(RAD50): c.885+11G> A single nucleotide variant Benign rs117081789 GRCh37 Chromosome 5, 131923393: 131923393
11 RAD50 NM_005732.3(RAD50): c.687delT (p.Ser229Argfs) deletion Pathogenic/Likely pathogenic rs760146707 GRCh37 Chromosome 5, 131915689: 131915689
12 RAD50 NM_005732.3(RAD50): c.687delT (p.Ser229Argfs) deletion Pathogenic/Likely pathogenic rs760146707 GRCh38 Chromosome 5, 132579997: 132579997
13 RAD50 NM_005732.3(RAD50): c.3153G> A (p.Leu1051=) single nucleotide variant Benign/Likely benign rs35800931 GRCh37 Chromosome 5, 131951811: 131951811
14 RAD50 NM_005732.3(RAD50): c.3153G> A (p.Leu1051=) single nucleotide variant Benign/Likely benign rs35800931 GRCh38 Chromosome 5, 132616119: 132616119
15 RAD50 NM_005732.3(RAD50): c.3846T> C (p.Tyr1282=) single nucleotide variant Benign rs1804670 GRCh37 Chromosome 5, 131977963: 131977963
16 RAD50 NM_005732.3(RAD50): c.3846T> C (p.Tyr1282=) single nucleotide variant Benign rs1804670 GRCh38 Chromosome 5, 132642271: 132642271
17 RAD50 NM_005732.3(RAD50): c.3553C> T (p.Arg1185Ter) single nucleotide variant Pathogenic rs778555849 GRCh38 Chromosome 5, 132638158: 132638158
18 RAD50 NM_005732.3(RAD50): c.3553C> T (p.Arg1185Ter) single nucleotide variant Pathogenic rs778555849 GRCh37 Chromosome 5, 131973850: 131973850
19 RAD50 NM_005732.3(RAD50): c.1875C> G (p.Tyr625Ter) single nucleotide variant Pathogenic rs149201802 GRCh38 Chromosome 5, 132594950: 132594950
20 RAD50 NM_005732.3(RAD50): c.1875C> G (p.Tyr625Ter) single nucleotide variant Pathogenic rs149201802 GRCh37 Chromosome 5, 131930642: 131930642
21 RAD50 NM_005732.3(RAD50): c.3806_3807delAT (p.His1269Argfs) deletion Uncertain significance rs1085307088 GRCh38 Chromosome 5, 132642231: 132642232
22 RAD50 NM_005732.3(RAD50): c.3806_3807delAT (p.His1269Argfs) deletion Uncertain significance rs1085307088 GRCh37 Chromosome 5, 131977923: 131977924
23 RAD50 NM_005732.3(RAD50): c.561dupA (p.Ala188Serfs) duplication Pathogenic/Likely pathogenic rs876659005 GRCh37 Chromosome 5, 131915563: 131915563
24 RAD50 NM_005732.3(RAD50): c.561dupA (p.Ala188Serfs) duplication Pathogenic/Likely pathogenic rs876659005 GRCh38 Chromosome 5, 132579871: 132579871
25 RAD50 NM_005732.3(RAD50): c.3489_3495delAGAAATA (p.Glu1164Glyfs) deletion Pathogenic/Likely pathogenic rs878854799 GRCh38 Chromosome 5, 132638094: 132638100
26 RAD50 NM_005732.3(RAD50): c.3489_3495delAGAAATA (p.Glu1164Glyfs) deletion Pathogenic/Likely pathogenic rs878854799 GRCh37 Chromosome 5, 131973786: 131973792
27 RAD50 NM_005732.3(RAD50): c.551+19G> A single nucleotide variant Benign rs17166050 GRCh38 Chromosome 5, 132579521: 132579521
28 RAD50 NM_005732.3(RAD50): c.551+19G> A single nucleotide variant Benign rs17166050 GRCh37 Chromosome 5, 131915213: 131915213
29 RAD50 NM_005732.3(RAD50): c.1246-8G> T single nucleotide variant Likely benign rs776650264 GRCh37 Chromosome 5, 131925315: 131925315
30 RAD50 NM_005732.3(RAD50): c.1246-8G> T single nucleotide variant Likely benign rs776650264 GRCh38 Chromosome 5, 132589623: 132589623
31 RAD50 NM_005732.3(RAD50): c.3164+22_3164+25dupCAGT duplication Likely benign rs1057517623 GRCh37 Chromosome 5, 131951844: 131951847
32 RAD50 NM_005732.3(RAD50): c.3164+22_3164+25dupCAGT duplication Likely benign rs1057517623 GRCh38 Chromosome 5, 132616152: 132616155
33 RAD50 NM_005732.3(RAD50): c.3029_3032delCACA (p.Thr1010Argfs) deletion Pathogenic/Likely pathogenic rs1060501941 GRCh38 Chromosome 5, 132609389: 132609392
34 RAD50 NM_005732.3(RAD50): c.3029_3032delCACA (p.Thr1010Argfs) deletion Pathogenic/Likely pathogenic rs1060501941 GRCh37 Chromosome 5, 131945081: 131945084
35 RAD50 NM_005732.3(RAD50): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 5, 132588728: 132588728
36 RAD50 NM_005732.3(RAD50): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 5, 131924420: 131924420

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 18)
# Super pathways Score Top Affiliating Genes
1 12.05 MRE11 RAD50
2
Show member pathways
12.03 MRE11 RAD50
3
Show member pathways
11.93 MRE11 RAD50
4
Show member pathways
11.91 MRE11 RAD50
5
Show member pathways
11.88 MRE11 RAD50
6
Show member pathways
11.82 MRE11 RAD50
7 11.71 MRE11 RAD50
8 11.68 MRE11 RAD50
9
Show member pathways
11.66 MRE11 RAD50
10
Show member pathways
11.48 MRE11 RAD50
11
Show member pathways
11.37 MRE11 RAD50
12
Show member pathways
11.32 MRE11 RAD50
13 11.19 MRE11 RAD50
14 10.98 MRE11 RAD50
15 10.92 MRE11 RAD50
16 10.62 MRE11 RAD50
17 10.34 MRE11 RAD50
18
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 20)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.59 MRE11 RAD50
2 regulation of signal transduction by p53 class mediator GO:1901796 9.58 MRE11 RAD50
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.58 MRE11 RAD50
4 meiotic cell cycle GO:0051321 9.57 MRE11 RAD50
5 DNA recombination GO:0006310 9.56 MRE11 RAD50
6 double-strand break repair via homologous recombination GO:0000724 9.55 MRE11 RAD50
7 positive regulation of kinase activity GO:0033674 9.54 MRE11 RAD50
8 double-strand break repair via nonhomologous end joining GO:0006303 9.52 MRE11 RAD50
9 double-strand break repair GO:0006302 9.51 MRE11 RAD50
10 DNA duplex unwinding GO:0032508 9.49 MRE11 RAD50
11 telomere maintenance GO:0000723 9.48 MRE11 RAD50
12 DNA synthesis involved in DNA repair GO:0000731 9.46 MRE11 RAD50
13 reciprocal meiotic recombination GO:0007131 9.43 MRE11 RAD50
14 strand displacement GO:0000732 9.4 MRE11 RAD50
15 positive regulation of protein autophosphorylation GO:0031954 9.37 MRE11 RAD50
16 telomere maintenance via telomerase GO:0007004 9.32 MRE11 RAD50
17 DNA double-strand break processing GO:0000729 9.26 MRE11 RAD50
18 positive regulation of telomere maintenance GO:0032206 9.16 MRE11 RAD50
19 telomeric 3 overhang formation GO:0031860 8.96 MRE11 RAD50
20 regulation of mitotic recombination GO:0000019 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 9.16 MRE11 RAD50
2 3-5 exonuclease activity GO:0008408 8.96 MRE11 RAD50
3 single-stranded DNA endodeoxyribonuclease activity GO:0000014 8.62 MRE11 RAD50

Sources for Nijmegen Breakage Syndrome-Like Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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