Nijmegen Breakage Syndrome-Like Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NBSLD MCID: NJM002 MIFTS: 35	Nijmegen Breakage Syndrome-Like Disorder (NBSLD) Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Nijmegen Breakage Syndrome-Like Disorder

MalaCards integrated aliases for Nijmegen Breakage Syndrome-Like Disorder:

Name: Nijmegen Breakage Syndrome-Like Disorder ⁵⁷ ⁵⁸ ⁷³ ²⁹ ¹³ ⁶ ³⁹ ⁷¹

Nbs-Like Disorder ⁵⁷ ⁵⁸ ⁷³

Rad50 Deficiency ⁵⁷ ⁵⁸ ⁷³

Nbsld ⁵⁷ ⁵⁸ ⁷³

Microcephaly and Spontaneous Chromosome Instability Without Immunodeficiency ⁵⁷ ⁷³

Microcephaly and Chromosomal Instability Without Immunodeficiency ⁵⁸

Characteristics:

HPO:

³¹

nijmegen breakage syndrome-like disorder:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Blood diseases Neuronal diseases Immune diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

Rare immunological diseases

External Ids:

OMIM® ⁵⁷ 613078

MeSH ⁴⁴ D049914

UMLS via Orphanet ⁷² C2751318

Orphanet ⁵⁸ ORPHA240760

MedGen ⁴¹ C2751318

SNOMED-CT via HPO ⁶⁸ 221360009 228156007 237836003 more

UMLS ⁷¹ C2751318

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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 spasticity

More information from OMIM: 613078

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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	ataxia-telangiectasia	29.7	RAD50 MRE11
2	nijmegen breakage syndrome	28.9	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	alpha-thalassemia	9.8	RAD50 MRE11
9	hereditary breast ovarian cancer syndrome	9.7	RAD50 MRE11

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

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Symptoms & Phenotypes for Nijmegen Breakage Syndrome-Like Disorder

Human phenotypes related to Nijmegen Breakage Syndrome-Like Disorder:

³¹ (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	very rare (1%)	HP:0001249
2	spasticity ³¹	very rare (1%)	HP:0001257
3	ataxia ³¹	very rare (1%)	HP:0001251
4	microcephaly ³¹	very rare (1%)	HP:0000252
5	short stature ³¹	very rare (1%)	HP:0004322
6	hypermetropia ³¹	very rare (1%)	HP:0000540
7	bird-like facies ³¹	very rare (1%)	HP:0000320
8	chromosomal breakage induced by ionizing radiation ³¹	very rare (1%)	HP:0010997

Clinical features from OMIM®:

613078 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Nijmegen Breakage Syndrome-Like Disorder

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

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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

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Anatomical Context for Nijmegen Breakage Syndrome-Like Disorder

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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. ⁶¹ ⁵⁷ ⁶	Waltes R...Dork T	19409520	2009
2	Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. ⁵⁷	Barbi G...Seyschab H	1887849	1991
3	A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex. ⁶¹	Rahman S...Latham MP	32668560	2020

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Genes for Nijmegen Breakage Syndrome-Like Disorder

Genes related to Nijmegen Breakage Syndrome-Like Disorder (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	1416.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	19409520
2	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
3	TH2LCRR	T Helper Type 2 Locus Control Region Associated RNA	RNA Gene	8.75	GeneCards inferred via : Variants (show sections)
4	TH2-LCR	Th2 Cytokine Locus Control Region	Biological Region	8.05	GeneCards inferred via : Variants (show sections)

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Variations for Nijmegen Breakage Syndrome-Like Disorder

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

⁶ (show top 50) (show all 85)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RAD50	NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr)	SNV	Pathogenic	5873	rs121912629	5:131978056-131978056	5:132642364-132642364
2	RAD50	NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)	SNV	Pathogenic	220719	rs149201802	5:131930642-131930642	5:132594950-132594950
3	RAD50	NM_005732.4(RAD50):c.2165dup (p.Glu723fs)	Duplication	Pathogenic	141045	rs397507178	5:131931451-131931452	5:132595759-132595760
4	RAD50	NM_005732.4(RAD50):c.904G>T (p.Glu302Ter)	SNV	Pathogenic	141896	rs587782090	5:131923634-131923634	5:132587942-132587942
5	RAD50	NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter)	SNV	Pathogenic	457398	rs772468452	5:131931411-131931411	5:132595719-132595719
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.183del (p.Gly63fs)	Deletion	Likely pathogenic	548884	rs1554096791	5:131895028-131895028	5:132559336-132559336
8	RAD50	NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)	Deletion	Likely pathogenic	482086	rs1554098250	5:131924498-131924501	5:132588806-132588809
9	RAD50	NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)	Duplication	Likely pathogenic	567271	rs1561635887	5:131915094-131915095	5:132579402-132579403
10	RAD50	NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)	Deletion	Likely pathogenic	408355	rs1060501941	5:131945080-131945083	5:132609388-132609391
11	RAD50	NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs)	Deletion	Likely pathogenic	240238	rs878854799	5:131973786-131973792	5:132638094-132638100
12	RAD50	NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)	SNV	Likely pathogenic	480489	rs1247689593	5:131924420-131924420	5:132588728-132588728
13	RAD50	NM_005732.4(RAD50):c.561dup (p.Ala188fs)	Duplication	Likely pathogenic	231180	rs876659005	5:131915560-131915561	5:132579868-132579869
14	RAD50	NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)	SNV	Likely pathogenic	5872	rs121912628	5:131953874-131953874	5:132618182-132618182
15	RAD50	NM_005732.4(RAD50):c.687del (p.Ser229fs)	Deletion	Likely pathogenic	185010	rs760146707	5:131915689-131915689	5:132579997-132579997
16	RAD50	NM_005732.4(RAD50):c.3036+5G>A	SNV	Conflicting interpretations of pathogenicity	37381	rs181016343	5:131945093-131945093	5:132609401-132609401
17	RAD50	NM_005732.4(RAD50):c.3806_3807del (p.His1269fs)	Deletion	Uncertain significance	225451	rs1085307088	5:131977923-131977924	5:132642231-132642232
18	RAD50	NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu)	SNV	Uncertain significance	140939	rs149217423	5:131925413-131925413	5:132589721-132589721
19	RAD50	NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)	SNV	Uncertain significance	128008	rs138749920	5:131940620-131940620	5:132604928-132604928
20	RAD50	NM_005732.4(RAD50):c.1402G>A (p.Glu468Lys)	SNV	Uncertain significance	141052	rs145031602	5:131925479-131925479	5:132589787-132589787
21	RAD50	NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)	SNV	Uncertain significance	127990	rs146370443	5:131924421-131924421	5:132588729-132588729
22	RAD50	NM_005732.4(RAD50):c.2177G>A (p.Arg726His)	SNV	Uncertain significance	128001	rs28903092	5:131931472-131931472	5:132595780-132595780
23	RAD50	NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)	SNV	Uncertain significance	127993	rs145428112	5:131925354-131925354	5:132589662-132589662
24	RAD50	NM_005732.4(RAD50):c.260G>A (p.Arg87His)	SNV	Uncertain significance	128007	rs374561375	5:131911515-131911515	5:132575823-132575823
25	RAD50	NM_005732.4(RAD50):c.980G>A (p.Arg327His)	SNV	Uncertain significance	37380	rs28903091	5:131923710-131923710	5:132588018-132588018
26	RAD50	NM_005732.4(RAD50):c.379G>A (p.Val127Ile)	SNV	Uncertain significance	128023	rs28903086	5:131915022-131915022	5:132579330-132579330
27	RAD50	NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)	SNV	Uncertain significance	127998	rs147366706	5:131926997-131926997	5:132591305-132591305
28	RAD50	NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)	SNV	Uncertain significance	128013	rs150401251	5:131944819-131944819	5:132609127-132609127
29	RAD50	NM_005732.4(RAD50):c.1115A>G (p.Gln372Arg)	SNV	Uncertain significance	527357	rs375070140	5:131924442-131924442	5:132588750-132588750
30	RAD50	NM_005732.4(RAD50):c.610A>G (p.Lys204Glu)	SNV	Uncertain significance	140908	rs202197835	5:131915612-131915612	5:132579920-132579920
31	RAD50	NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)	SNV	Uncertain significance	127992	rs200017020	5:131924538-131924538	5:132588846-132588846
32	RAD50	NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)	SNV	Uncertain significance	140930	rs199579239	5:131977907-131977907	5:132642215-132642215
33	RAD50	NM_005732.4(RAD50):c.2397G>C (p.Gln799His)	SNV	Uncertain significance	128004	rs61749630	5:131939181-131939181	5:132603489-132603489
34	RAD50	NM_005732.4(RAD50):c.2431_2433CAA[1] (p.Gln812del)	Microsatellite	Uncertain significance	548918	rs1554099147	5:131939644-131939646	5:132603952-132603954
35	RAD50	NM_005732.4(RAD50):c.3467G>A (p.Arg1156His)	SNV	Uncertain significance	128020	rs587780156	5:131972884-131972884	5:132637192-132637192
36	RAD50	NM_005732.4(RAD50):c.3836G>A (p.Arg1279His)	SNV	Uncertain significance	140931	rs375710541	5:131977953-131977953	5:132642261-132642261
37	RAD50	NM_005732.4(RAD50):c.119C>T (p.Ala40Val)	SNV	Uncertain significance	482090	rs1554096657	5:131893135-131893135	5:132557443-132557443
38	RAD50	NM_005732.4(RAD50):c.214G>A (p.Val72Ile)	SNV	Uncertain significance	141106	rs118029772	5:131911469-131911469	5:132575777-132575777
39	RAD50	NM_005732.4(RAD50):c.217G>A (p.Ala73Thr)	SNV	Uncertain significance	230217	rs371122101	5:131911472-131911472	5:132575780-132575780
40	RAD50	NM_005732.4(RAD50):c.467T>G (p.Phe156Cys)	SNV	Uncertain significance	480430	rs1405344791	5:131915110-131915110	5:132579418-132579418
41	RAD50	NM_005732.4(RAD50):c.586C>T (p.Arg196Cys)	SNV	Uncertain significance	184289	rs769853458	5:131915588-131915588	5:132579896-132579896
42	RAD50	NM_005732.4(RAD50):c.785T>G (p.Leu262Arg)	SNV	Uncertain significance	185329	rs201728859	5:131923282-131923282	5:132587590-132587590
43	RAD50	NM_005732.4(RAD50):c.1192A>G (p.Lys398Glu)	SNV	Uncertain significance	219813	rs756173890	5:131924519-131924519	5:132588827-132588827
44	RAD50	NM_005732.4(RAD50):c.1457G>A (p.Arg486His)	SNV	Uncertain significance	216619	rs776949511	5:131926920-131926920	5:132591228-132591228
45	RAD50	NM_005732.4(RAD50):c.1580A>G (p.Gln527Arg)	SNV	Uncertain significance	480425	rs1554098420	5:131927043-131927043	5:132591351-132591351
46	RAD50	NM_005732.4(RAD50):c.1604G>A (p.Arg535His)	SNV	Uncertain significance	141317	rs200548021	5:131927067-131927067	5:132591375-132591375
47	RAD50	NM_005732.4(RAD50):c.1677C>G (p.His559Gln)	SNV	Uncertain significance	141151	rs142619269	5:131927610-131927610	5:132591918-132591918
48	RAD50	NM_005732.4(RAD50):c.1721A>G (p.Lys574Arg)	SNV	Uncertain significance	482106	rs1386858430	5:131927654-131927654	5:132591962-132591962
49	RAD50	NM_005732.4(RAD50):c.1876G>A (p.Glu626Lys)	SNV	Uncertain significance	240220	rs763432574	5:131930643-131930643	5:132594951-132594951
50	RAD50	NM_005732.4(RAD50):c.2047G>A (p.Val683Ile)	SNV	Uncertain significance	185548	rs367925756	5:131931342-131931342	5:132595650-132595650

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Expression for Nijmegen Breakage Syndrome-Like Disorder

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

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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	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁶	11.93	RAD50 MRE11
2	DNA Double Strand Break Response ⁶⁵ Show member pathways Nonhomologous End-Joining (NHEJ) ⁶⁵ Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks ⁶⁵ Sensing of DNA Double Strand Breaks ⁶⁵	11.91	RAD50 MRE11
3	DNA Damage/Telomere Stress Induced Senescence ⁶⁵ Show member pathways Formation of Senescence-Associated Heterochromatin Foci (SAHF) ⁶⁵ Packaging Of Telomere Ends ⁶⁵ Signal transduction Activin A signaling regulation ²³	11.88	RAD50 MRE11
4	Homologous DNA Pairing and Strand Exchange ⁶⁵ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁵ HDR through Single Strand Annealing (SSA) ⁶⁵ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁵	11.82	RAD50 MRE11
5	Cellular senescence (KEGG) ³⁶	11.7	RAD50 MRE11
6	Integrated Breast Cancer Pathway ¹	11.68	RAD50 MRE11
7	Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁵ Show member pathways Homologous recombination ³⁶ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁵ Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁵	11.65	RAD50 MRE11
8	ATM Pathway ⁶³ Show member pathways ATM Signaling Pathway ¹	11.4	RAD50 MRE11
9	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.32	RAD50 MRE11
10	Regulation of Telomerase ¹	11.19	RAD50 MRE11
11	Integrated Cancer Pathway ¹	10.98	RAD50 MRE11
12	ATM Signaling Network in Development and Disease ¹	10.92	RAD50 MRE11
13	Telomere Extension by Telomerase ⁶³ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁵	10.76	RAD50 MRE11
14	BARD1 signaling events ¹	10.62	RAD50 MRE11
15	DNA damage_NHEJ mechanisms of DSBs repair ²³	10.34	RAD50 MRE11
16	DDX1 as a regulatory component of the Drosha microprocessor ¹ Show member pathways RNA interference ¹	9.83	RAD50 MRE11

Sources

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	chromosome, telomeric region	GO:0000781	9.16	RAD50 MRE11
2	site of double-strand break	GO:0035861	8.96	RAD50 MRE11
3	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	DNA duplex unwinding	GO:0032508	9.52	RAD50 MRE11
7	double-strand break repair via homologous recombination	GO:0000724	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

Sources for Nijmegen Breakage Syndrome-Like Disorder

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Nijmegen Breakage Syndrome-Like Disorder (NBSLD)

Aliases & Classifications for Nijmegen Breakage Syndrome-Like Disorder

MalaCards integrated aliases for Nijmegen Breakage Syndrome-Like Disorder:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Nijmegen Breakage Syndrome-Like Disorder

Related Diseases for Nijmegen Breakage Syndrome-Like Disorder

Diseases in the Nijmegen Breakage Syndrome family:

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

Graphical network of the top 20 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:

Clinical features from OMIM®:

Drugs & Therapeutics for Nijmegen Breakage Syndrome-Like Disorder

Genetic Tests for Nijmegen Breakage Syndrome-Like Disorder

Genetic tests related to Nijmegen Breakage Syndrome-Like Disorder:

Anatomical Context for Nijmegen Breakage Syndrome-Like Disorder

Publications for Nijmegen Breakage Syndrome-Like Disorder

Articles related to Nijmegen Breakage Syndrome-Like Disorder:

Genes for Nijmegen Breakage Syndrome-Like Disorder

Genes related to Nijmegen Breakage Syndrome-Like Disorder (2 elite genes):

Variations for Nijmegen Breakage Syndrome-Like Disorder

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

Expression 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:

GO Terms for Nijmegen Breakage Syndrome-Like Disorder

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

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

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

Sources for Nijmegen Breakage Syndrome-Like Disorder