NBSLD
MCID: NJM002
MIFTS: 35

Nijmegen Breakage Syndrome-Like Disorder (NBSLD)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Nijmegen Breakage Syndrome-Like Disorder

MalaCards integrated aliases for Nijmegen Breakage Syndrome-Like Disorder:

Name: Nijmegen Breakage Syndrome-Like Disorder 56 58 73 29 13 6 39 71
Nbs-Like Disorder 56 58 73
Rad50 Deficiency 56 58 73
Nbsld 56 58 73
Microcephaly and Spontaneous Chromosome Instability Without Immunodeficiency 56 73
Microcephaly and Chromosomal Instability Without Immunodeficiency 58

Characteristics:

HPO:

31
nijmegen breakage syndrome-like disorder:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

OMIM 56 613078
MeSH 43 D049914
UMLS via Orphanet 72 C2751318
Orphanet 58 ORPHA240760
MedGen 41 C2751318
UMLS 71 C2751318

Summaries for Nijmegen Breakage Syndrome-Like Disorder

UniProtKB/Swiss-Prot : 73 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 ataxia-telangiectasia and nijmegen breakage syndrome. 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 microcephaly

More information 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia 29.9 RAD50 MRE11
2 nijmegen breakage syndrome 28.4 TH2LCRR TH2-LCR RAD50 MRE11
3 ataxia and polyneuropathy, adult-onset 10.2
4 ataxia-telangiectasia-like disorder 1 10.2
5 microcephaly 10.2
6 telangiectasis 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 autosomal recessive cerebellar ataxia 9.7 RAD50 MRE11
10 seckel syndrome 9.6 RAD50 MRE11
11 lynch syndrome 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

Symptoms & Phenotypes for Nijmegen Breakage Syndrome-Like Disorder

Human phenotypes related to Nijmegen Breakage Syndrome-Like Disorder:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 microcephaly 31 HP:0000252
3 short stature 31 HP:0004322
4 spasticity 31 HP:0001257
5 ataxia 31 HP:0001251
6 hypermetropia 31 HP:0000540
7 chromosomal breakage induced by ionizing radiation 31 HP:0010997

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 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 PMID Year
1
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 56 61 6
19409520 2009
2
Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. 56
1887849 1991

Variations for Nijmegen Breakage Syndrome-Like Disorder

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

6 (show top 50) (show all 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAD50 NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter)SNV Pathogenic 457398 rs772468452 5:131931411-131931411 5:132595719-132595719
2 RAD50 NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)duplication Pathogenic 567271 rs1561635887 5:131915094-131915095 5:132579402-132579403
3 RAD50 NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr)SNV Pathogenic 5873 rs121912629 5:131978056-131978056 5:132642364-132642364
4 RAD50 NM_005732.4(RAD50):c.2165dup (p.Glu723fs)duplication Pathogenic 141045 rs397507178 5:131931451-131931452 5:132595759-132595760
5 RAD50 NM_005732.4(RAD50):c.904G>T (p.Glu302Ter)SNV Pathogenic 141896 rs587782090 5:131923634-131923634 5:132587942-132587942
6 RAD50 NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs)deletion Pathogenic 143015 rs587782895 5:131939712-131939713 5:132604020-132604021
7 RAD50 NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)SNV Pathogenic 220719 rs149201802 5:131930642-131930642 5:132594950-132594950
8 RAD50 NM_005732.4(RAD50):c.561dup (p.Ala188fs)duplication Pathogenic/Likely pathogenic 231180 rs876659005 5:131915560-131915561 5:132579868-132579869
9 RAD50 NM_005732.4(RAD50):c.687del (p.Ser229fs)deletion Pathogenic/Likely pathogenic 185010 rs760146707 5:131915689-131915689 5:132579997-132579997
10 RAD50 NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)deletion Pathogenic/Likely pathogenic 408355 rs1060501941 5:131945080-131945083 5:132609388-132609391
11 RAD50 NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)SNV Pathogenic/Likely pathogenic 5872 rs121912628 5:131953874-131953874 5:132618182-132618182
12 RAD50 NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)SNV Pathogenic/Likely pathogenic 480489 rs1247689593 5:131924420-131924420 5:132588728-132588728
13 RAD50 NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)deletion Pathogenic/Likely pathogenic 482086 rs1554098250 5:131924498-131924501 5:132588806-132588809
14 RAD50 NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs)deletion Pathogenic/Likely pathogenic 240238 rs878854799 5:131973786-131973792 5:132638094-132638100
15 RAD50 NM_005732.4(RAD50):c.183del (p.Gly63fs)deletion Likely pathogenic 548884 rs1554096791 5:131895028-131895028 5:132559336-132559336
16 RAD50 NM_005732.4(RAD50):c.980G>A (p.Arg327His)SNV Conflicting interpretations of pathogenicity 37380 rs28903091 5:131923710-131923710 5:132588018-132588018
17 RAD50 NM_005732.4(RAD50):c.3036+5G>ASNV Conflicting interpretations of pathogenicity 37381 rs181016343 5:131945093-131945093 5:132609401-132609401
18 RAD50 NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)SNV Conflicting interpretations of pathogenicity 127990 rs146370443 5:131924421-131924421 5:132588729-132588729
19 RAD50 NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)SNV Conflicting interpretations of pathogenicity 127992 rs200017020 5:131924538-131924538 5:132588846-132588846
20 RAD50 NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)SNV Conflicting interpretations of pathogenicity 127998 rs147366706 5:131926997-131926997 5:132591305-132591305
21 RAD50 NM_005732.4(RAD50):c.2397G>C (p.Gln799His)SNV Conflicting interpretations of pathogenicity 128004 rs61749630 5:131939181-131939181 5:132603489-132603489
22 RAD50 NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys)SNV Conflicting interpretations of pathogenicity 128006 rs181961360 5:131940521-131940521 5:132604829-132604829
23 RAD50 NM_005732.4(RAD50):c.260G>A (p.Arg87His)SNV Conflicting interpretations of pathogenicity 128007 rs374561375 5:131911515-131911515 5:132575823-132575823
24 RAD50 NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)SNV Conflicting interpretations of pathogenicity 128008 rs138749920 5:131940620-131940620 5:132604928-132604928
25 RAD50 NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)SNV Conflicting interpretations of pathogenicity 128012 rs28903085 5:131911535-131911535 5:132575843-132575843
26 RAD50 NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu)SNV Conflicting interpretations of pathogenicity 140939 rs149217423 5:131925413-131925413 5:132589721-132589721
27 RAD50 NM_005732.4(RAD50):c.204C>T (p.His68=)SNV Conflicting interpretations of pathogenicity 184336 rs28903084 5:131895050-131895050 5:132559358-132559358
28 RAD50 NM_005732.4(RAD50):c.282A>G (p.Ile94Met)SNV Conflicting interpretations of pathogenicity 186303 rs786202847 5:131911537-131911537 5:132575845-132575845
29 RAD50 NM_005732.4(RAD50):c.379G>A (p.Val127Ile)SNV Conflicting interpretations of pathogenicity 128023 rs28903086 5:131915022-131915022 5:132579330-132579330
30 RAD50 NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)SNV Conflicting interpretations of pathogenicity 140930 rs199579239 5:131977907-131977907 5:132642215-132642215
31 RAD50 NM_005732.4(RAD50):c.3806_3807del (p.His1269fs)deletion Conflicting interpretations of pathogenicity 225451 rs1085307088 5:131977923-131977924 5:132642231-132642232
32 RAD50 NM_005732.4(RAD50):c.217G>A (p.Ala73Thr)SNV Uncertain significance 230217 rs371122101 5:131911472-131911472 5:132575780-132575780
33 RAD50 NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg)SNV Uncertain significance 142780 rs373817937 5:131940503-131940503 5:132604811-132604811
34 RAD50 NM_005732.4(RAD50):c.1192A>G (p.Lys398Glu)SNV Uncertain significance 219813 rs756173890 5:131924519-131924519 5:132588827-132588827
35 RAD50 NM_005732.4(RAD50):c.2204T>A (p.Met735Lys)SNV Uncertain significance 231966 rs757043253 5:131931499-131931499 5:132595807-132595807
36 RAD50 NM_005732.4(RAD50):c.2836G>A (p.Asp946Asn)SNV Uncertain significance 230339 rs766657227 5:131944815-131944815 5:132609123-132609123
37 RAD50 NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile)SNV Uncertain significance 230977 rs769003601 5:131953803-131953803 5:132618111-132618111
38 RAD50 NM_005732.4(RAD50):c.1876G>A (p.Glu626Lys)SNV Uncertain significance 240220 rs763432574 5:131930643-131930643 5:132594951-132594951
39 RAD50 NM_005732.4(RAD50):c.785T>G (p.Leu262Arg)SNV Uncertain significance 185329 rs201728859 5:131923282-131923282 5:132587590-132587590
40 RAD50 NM_005732.4(RAD50):c.1457G>A (p.Arg486His)SNV Uncertain significance 216619 rs776949511 5:131926920-131926920 5:132591228-132591228
41 RAD50 NM_005732.4(RAD50):c.2047G>A (p.Val683Ile)SNV Uncertain significance 185548 rs367925756 5:131931342-131931342 5:132595650-132595650
42 RAD50 NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu)SNV Uncertain significance 187622 rs549559726 5:131938993-131938993 5:132603301-132603301
43 RAD50 NM_005732.4(RAD50):c.3836G>A (p.Arg1279His)SNV Uncertain significance 140931 rs375710541 5:131977953-131977953 5:132642261-132642261
44 RAD50 NM_005732.4(RAD50):c.1402G>A (p.Glu468Lys)SNV Uncertain significance 141052 rs145031602 5:131925479-131925479 5:132589787-132589787
45 RAD50 NM_005732.4(RAD50):c.214G>A (p.Val72Ile)SNV Uncertain significance 141106 rs118029772 5:131911469-131911469 5:132575777-132575777
46 RAD50 NM_005732.4(RAD50):c.1677C>G (p.His559Gln)SNV Uncertain significance 141151 rs142619269 5:131927610-131927610 5:132591918-132591918
47 RAD50 NM_005732.4(RAD50):c.1604G>A (p.Arg535His)SNV Uncertain significance 141317 rs200548021 5:131927067-131927067 5:132591375-132591375
48 RAD50 NM_005732.4(RAD50):c.586C>T (p.Arg196Cys)SNV Uncertain significance 184289 rs769853458 5:131915588-131915588 5:132579896-132579896
49 RAD50 NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)SNV Uncertain significance 128013 rs150401251 5:131944819-131944819 5:132609127-132609127
50 RAD50 NM_005732.4(RAD50):c.3467G>A (p.Arg1156His)SNV Uncertain significance 128020 rs587780156 5:131972884-131972884 5:132637192-132637192

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.93 RAD50 MRE11
2
Show member pathways
11.91 RAD50 MRE11
3
Show member pathways
11.88 RAD50 MRE11
4
Show member pathways
11.82 RAD50 MRE11
5 11.7 RAD50 MRE11
6 11.68 RAD50 MRE11
7
Show member pathways
11.65 RAD50 MRE11
8
Show member pathways
11.4 RAD50 MRE11
9
Show member pathways
11.32 RAD50 MRE11
10 11.19 RAD50 MRE11
11 10.98 RAD50 MRE11
12 10.92 RAD50 MRE11
13
Show member pathways
10.76 RAD50 MRE11
14 10.62 RAD50 MRE11
15 10.34 RAD50 MRE11
16
Show member pathways
9.83 RAD50 MRE11

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 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 18)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.58 RAD50 MRE11
2 regulation of signal transduction by p53 class mediator GO:1901796 9.57 RAD50 MRE11
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.56 RAD50 MRE11
4 meiotic cell cycle GO:0051321 9.55 RAD50 MRE11
5 DNA recombination GO:0006310 9.54 RAD50 MRE11
6 double-strand break repair via homologous recombination GO:0000724 9.52 RAD50 MRE11
7 DNA duplex unwinding GO:0032508 9.51 RAD50 MRE11
8 positive regulation of kinase activity GO:0033674 9.49 RAD50 MRE11
9 double-strand break repair via nonhomologous end joining GO:0006303 9.48 RAD50 MRE11
10 double-strand break repair GO:0006302 9.46 RAD50 MRE11
11 telomere maintenance GO:0000723 9.43 RAD50 MRE11
12 reciprocal meiotic recombination GO:0007131 9.4 RAD50 MRE11
13 positive regulation of protein autophosphorylation GO:0031954 9.37 RAD50 MRE11
14 telomere maintenance via telomerase GO:0007004 9.32 RAD50 MRE11
15 DNA double-strand break processing GO:0000729 9.26 RAD50 MRE11
16 positive regulation of telomere maintenance GO:0032206 9.16 RAD50 MRE11
17 telomeric 3' overhang formation GO:0031860 8.96 RAD50 MRE11
18 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 DNA helicase activity GO:0003678 9.16 RAD50 MRE11
2 3'-5' exonuclease activity GO:0008408 8.96 RAD50 MRE11
3 single-stranded DNA endodeoxyribonuclease activity GO:0000014 8.62 RAD50 MRE11

Sources for Nijmegen Breakage Syndrome-Like Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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