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

NBSLD MCID: NJM002 MIFTS: 36	Nijmegen Breakage Syndrome-Like Disorder (NBSLD) Categories: Blood diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues 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 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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Immune diseases Neuronal diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

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

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 nijmegen breakage syndrome and ataxia-telangiectasia. 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. Affiliated tissues include breast, and 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:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	nijmegen breakage syndrome	30.1	RAD50 MRE11
2	ataxia-telangiectasia	29.8	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	9.7	RAD50 MRE11
11	lynch syndrome	9.5	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 7)

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

Clinical features from OMIM:

613078

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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

MalaCards organs/tissues related to Nijmegen Breakage Syndrome-Like Disorder:

⁴⁰

Breast

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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 ⁵⁶ ⁶	Waltes R...Dork T	19409520	2009
2	Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. ⁵⁶	Barbi G...Seyschab H	1887849	1991

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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	PubmedIds
1	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	1391.63	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ 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	8.82	GeneCards inferred via : Variants (show sections)
4	TH2-LCR	Th2 Cytokine Locus Control Region	Biological Region	8.12	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 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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.2498_2499del (p.Gln833fs)	deletion	Pathogenic	143015	rs587782895	5:131939712-131939713	5:132604020-132604021
6	RAD50	NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter)	SNV	Pathogenic	457398	rs772468452	5:131931411-131931411	5:132595719-132595719
7	RAD50	NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)	duplication	Pathogenic	567271	rs1561635887	5:131915094-131915095	5:132579402-132579403
8	RAD50	NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)	deletion	Pathogenic/Likely pathogenic	408355	rs1060501941	5:131945080-131945083	5:132609388-132609391
9	RAD50	NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs)	deletion	Pathogenic/Likely pathogenic	240238	rs878854799	5:131973786-131973792	5:132638094-132638100
10	RAD50	NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)	SNV	Pathogenic/Likely pathogenic	480489	rs1247689593	5:131924420-131924420	5:132588728-132588728
11	RAD50	NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)	deletion	Pathogenic/Likely pathogenic	482086	rs1554098250	5:131924498-131924501	5:132588806-132588809
12	RAD50	NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)	SNV	Pathogenic/Likely pathogenic	5872	rs121912628	5:131953874-131953874	5:132618182-132618182
13	RAD50	NM_005732.4(RAD50):c.687del (p.Ser229fs)	deletion	Pathogenic/Likely pathogenic	185010	rs760146707	5:131915689-131915689	5:132579997-132579997
14	RAD50	NM_005732.4(RAD50):c.561dup (p.Ala188fs)	duplication	Pathogenic/Likely pathogenic	231180	rs876659005	5:131915560-131915561	5:132579868-132579869
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.204C>T (p.His68=)	SNV	Conflicting interpretations of pathogenicity	184336	rs28903084	5:131895050-131895050	5:132559358-132559358
17	RAD50	NM_005732.4(RAD50):c.282A>G (p.Ile94Met)	SNV	Conflicting interpretations of pathogenicity	186303	rs786202847	5:131911537-131911537	5:132575845-132575845
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.980G>A (p.Arg327His)	SNV	Conflicting interpretations of pathogenicity	37380	rs28903091	5:131923710-131923710	5:132588018-132588018
22	RAD50	NM_005732.4(RAD50):c.3036+5G>A	SNV	Conflicting interpretations of pathogenicity	37381	rs181016343	5:131945093-131945093	5:132609401-132609401
23	RAD50	NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu)	SNV	Conflicting interpretations of pathogenicity	140939	rs149217423	5:131925413-131925413	5:132589721-132589721
24	RAD50	NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys)	SNV	Conflicting interpretations of pathogenicity	128006	rs181961360	5:131940521-131940521	5:132604829-132604829
25	RAD50	NM_005732.4(RAD50):c.260G>A (p.Arg87His)	SNV	Conflicting interpretations of pathogenicity	128007	rs374561375	5:131911515-131911515	5:132575823-132575823
26	RAD50	NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)	SNV	Conflicting interpretations of pathogenicity	128008	rs138749920	5:131940620-131940620	5:132604928-132604928
27	RAD50	NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)	SNV	Conflicting interpretations of pathogenicity	128012	rs28903085	5:131911535-131911535	5:132575843-132575843
28	RAD50	NM_005732.4(RAD50):c.379G>A (p.Val127Ile)	SNV	Conflicting interpretations of pathogenicity	128023	rs28903086	5:131915022-131915022	5:132579330-132579330
29	RAD50	NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)	SNV	Conflicting interpretations of pathogenicity	140930	rs199579239	5:131977907-131977907	5:132642215-132642215
30	RAD50	NM_005732.4(RAD50):c.3836G>A (p.Arg1279His)	SNV	Uncertain significance	140931	rs375710541	5:131977953-131977953	5:132642261-132642261
31	RAD50	NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)	SNV	Uncertain significance	128013	rs150401251	5:131944819-131944819	5:132609127-132609127
32	RAD50	NM_005732.4(RAD50):c.3467G>A (p.Arg1156His)	SNV	Uncertain significance	128020	rs587780156	5:131972884-131972884	5:132637192-132637192
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.1402G>A (p.Glu468Lys)	SNV	Uncertain significance	141052	rs145031602	5:131925479-131925479	5:132589787-132589787
35	RAD50	NM_005732.4(RAD50):c.214G>A (p.Val72Ile)	SNV	Uncertain significance	141106	rs118029772	5:131911469-131911469	5:132575777-132575777
36	RAD50	NM_005732.4(RAD50):c.1677C>G (p.His559Gln)	SNV	Uncertain significance	141151	rs142619269	5:131927610-131927610	5:132591918-132591918
37	RAD50	NM_005732.4(RAD50):c.1604G>A (p.Arg535His)	SNV	Uncertain significance	141317	rs200548021	5:131927067-131927067	5:132591375-132591375
38	RAD50	NM_005732.4(RAD50):c.1580A>G (p.Gln527Arg)	SNV	Uncertain significance	480425	rs1554098420	5:131927043-131927043	5:132591351-132591351
39	RAD50	NM_005732.4(RAD50):c.3270A>C (p.Lys1090Asn)	SNV	Uncertain significance	482095	rs1554099872	5:131953867-131953867	5:132618175-132618175
40	RAD50	NM_005732.4(RAD50):c.1115A>G (p.Gln372Arg)	SNV	Uncertain significance	527357	rs375070140	5:131924442-131924442	5:132588750-132588750
41	RAD50	NM_005732.4(RAD50):c.1721A>G (p.Lys574Arg)	SNV	Uncertain significance	482106	rs1386858430	5:131927654-131927654	5:132591962-132591962
42	RAD50	NM_005732.4(RAD50):c.119C>T (p.Ala40Val)	SNV	Uncertain significance	482090	rs1554096657	5:131893135-131893135	5:132557443-132557443
43	RAD50	NM_005732.4(RAD50):c.467T>G (p.Phe156Cys)	SNV	Uncertain significance	480430	rs1405344791	5:131915110-131915110	5:132579418-132579418
44	RAD50	NM_005732.4(RAD50):c.1876G>A (p.Glu626Lys)	SNV	Uncertain significance	240220	rs763432574	5:131930643-131930643	5:132594951-132594951
45	RAD50	NM_005732.4(RAD50):c.2177G>A (p.Arg726His)	SNV	Uncertain significance	128001	rs28903092	5:131931472-131931472	5:132595780-132595780
46	RAD50	NM_005732.4(RAD50):c.2397G>C (p.Gln799His)	SNV	Uncertain significance	128004	rs61749630	5:131939181-131939181	5:132603489-132603489
47	RAD50	NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)	SNV	Uncertain significance	127993	rs145428112	5:131925354-131925354	5:132589662-132589662
48	RAD50	NM_005732.4(RAD50):c.1192A>G (p.Lys398Glu)	SNV	Uncertain significance	219813	rs756173890	5:131924519-131924519	5:132588827-132588827
49	RAD50	NM_005732.4(RAD50):c.3806_3807del (p.His1269fs)	deletion	Uncertain significance	225451	rs1085307088	5:131977923-131977924	5:132642231-132642232
50	RAD50	NM_005732.4(RAD50):c.217G>A (p.Ala73Thr)	SNV	Uncertain significance	230217	rs371122101	5:131911472-131911472	5:132575780-132575780

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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 ²²	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	11.71	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 ¹ Homologous recombination ³⁶ 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 ²²	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

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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	double-strand break repair	GO:0006302	9.49	RAD50 MRE11
9	double-strand break repair via nonhomologous end joining	GO:0006303	9.48	RAD50 MRE11
10	telomere maintenance	GO:0000723	9.46	RAD50 MRE11
11	reciprocal meiotic recombination	GO:0007131	9.43	RAD50 MRE11
12	positive regulation of protein autophosphorylation	GO:0031954	9.4	RAD50 MRE11
13	telomere maintenance via telomerase	GO:0007004	9.37	RAD50 MRE11
14	positive regulation of kinase activity	GO:0033674	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

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²⁵ Genetics Home Reference

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²⁷ GEO DataSets

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MESH via Orphanet

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

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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

MalaCards organs/tissues related to 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