Lambda 5 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LMB004 MIFTS: 21	Lambda 5 Deficiency Categories: Genetic diseases, Immune diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Lambda 5 Deficiency

MalaCards integrated aliases for Lambda 5 Deficiency:

Name: Lambda 5 Deficiency ¹² ⁶ ¹⁵

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060024

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Summaries for Lambda 5 Deficiency

Disease Ontology : ¹² A B cell deficiency that has material basis in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.

MalaCards based summary : Lambda 5 Deficiency is related to mu chain disease and congenital hypogammaglobulinemia. An important gene associated with Lambda 5 Deficiency is IGLL1 (Immunoglobulin Lambda Like Polypeptide 1), and among its related pathways/superpathways are Cell surface interactions at the vascular wall and Fc-GammaR Pathway.

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Related Diseases for Lambda 5 Deficiency

Diseases related to Lambda 5 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	mu chain disease	9.9	VPREB1 IGLL1
2	congenital hypogammaglobulinemia	9.7	IGLL1 BLNK
3	agammaglobulinemia, non-bruton type	9.6	IGLL1 CD79B BLNK
4	agammaglobulinemia 4, autosomal recessive	9.6	CD79B BLNK
5	agammaglobulinemia, x-linked	9.6	IGLL1 CD79B BLNK
6	agammaglobulinemia	9.3	VPREB1 IGLL1 CD79B BLNK
7	hyperpigmentation with or without hypopigmentation, familial progressive	8.6	VPREB3 VPREB1 RAG2 IGLL1 CD79B BLNK

Graphical network of the top 20 diseases related to Lambda 5 Deficiency:

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Symptoms & Phenotypes for Lambda 5 Deficiency

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Drugs & Therapeutics for Lambda 5 Deficiency

Search Clinical Trials , NIH Clinical Center for Lambda 5 Deficiency

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Genetic Tests for Lambda 5 Deficiency

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Anatomical Context for Lambda 5 Deficiency

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Publications for Lambda 5 Deficiency

Articles related to Lambda 5 Deficiency:

#	Title	Authors	PMID	Year
1	Diagnostics of primary immunodeficiency diseases: a sequencing capture approach. ⁶	Moens LN...Nilsson M	25502423	2014
2	Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. ⁶	Minegishi Y...Conley ME	9419212	1998

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Genes for Lambda 5 Deficiency

Genes related to Lambda 5 Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IGLL1	Immunoglobulin Lambda Like Polypeptide 1	Protein Coding	407.53	Pathogenic ⁶ DISEASES inferred ¹⁵	9419212
2	VPREB1	V-Set Pre-B Cell Surrogate Light Chain 1	Protein Coding	6.81	DISEASES inferred ¹⁵
3	CD79B	CD79b Molecule	Protein Coding	6.06	DISEASES inferred ¹⁵
4	BLNK	B Cell Linker	Protein Coding	5.76	DISEASES inferred ¹⁵
5	VPREB3	V-Set Pre-B Cell Surrogate Light Chain 3	Protein Coding	5.4	DISEASES inferred ¹⁵
6	RAG2	Recombination Activating 2	Protein Coding	5.31	DISEASES inferred ¹⁵

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Variations for Lambda 5 Deficiency

ClinVar genetic disease variations for Lambda 5 Deficiency:

⁶ (show top 50) (show all 72)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	IGLL1	NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter)	SNV	Pathogenic	14824	rs74315491	22:23922314-23922314	22:23580127-23580127
2	IGLL1	NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)	SNV	Conflicting interpretations of pathogenicity	439824	rs139491925	22:23915479-23915479	22:23573292-23573292
3	IGLL1	NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)	SNV	Conflicting interpretations of pathogenicity	547919	rs112775194	22:23915658-23915658	22:23573471-23573471
4	IGLL1	NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu)	SNV	Uncertain significance	836258		22:23922181-23922181	22:23579994-23579994
5	IGLL1	NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys)	SNV	Uncertain significance	840747		22:23922260-23922260	22:23580073-23580073
6	IGLL1	NM_020070.4(IGLL1):c.221G>A (p.Arg74His)	SNV	Uncertain significance	844864		22:23917255-23917255	22:23575068-23575068
7	IGLL1	NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly)	SNV	Uncertain significance	847416		22:23922200-23922200	22:23580013-23580013
8	IGLL1	NM_020070.4(IGLL1):c.341C>T (p.Pro114Leu)	SNV	Uncertain significance	849960		22:23915754-23915754	22:23573567-23573567
9	IGLL1	NM_020070.4(IGLL1):c.590T>C (p.Met197Thr)	SNV	Uncertain significance	861363		22:23915505-23915505	22:23573318-23573318
10	IGLL1	NM_020070.4(IGLL1):c.35C>T (p.Ala12Val)	SNV	Uncertain significance	939503		22:23922343-23922343	22:23580156-23580156
11	IGLL1	NM_020070.4(IGLL1):c.619G>A (p.Val207Met)	SNV	Uncertain significance	947731		22:23915476-23915476	22:23573289-23573289
12	IGLL1	NM_020070.4(IGLL1):c.415G>A (p.Asp139Asn)	SNV	Uncertain significance	950995		22:23915680-23915680	22:23573493-23573493
13	IGLL1	NM_020070.4(IGLL1):c.421del (p.Tyr141fs)	Deletion	Uncertain significance	962416		22:23915674-23915674	22:23573487-23573487
14	IGLL1	NM_020070.4(IGLL1):c.178C>T (p.Arg60Trp)	SNV	Uncertain significance	965383		22:23922200-23922200	22:23580013-23580013
15	IGLL1	NM_020070.4(IGLL1):c.17G>T (p.Gly6Val)	SNV	Uncertain significance	965546		22:23922361-23922361	22:23580174-23580174
16	IGLL1	NM_020070.4(IGLL1):c.142A>G (p.Arg48Gly)	SNV	Uncertain significance	966548		22:23922236-23922236	22:23580049-23580049
17	IGLL1	NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met)	Indel	Uncertain significance	538826	rs1555903974	22:23915574-23915575	22:23573387-23573388
18	IGLL1	NM_020070.4(IGLL1):c.607G>A (p.Val203Met)	SNV	Uncertain significance	538827	rs771552908	22:23915488-23915488	22:23573301-23573301
19	IGLL1	NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)	SNV	Uncertain significance	14825	rs1064422	22:23915670-23915670	22:23573483-23573483
20	IGLL1	NM_020070.4(IGLL1):c.258del (p.Gln88fs)	Deletion	Uncertain significance	236015	rs532338576	22:23917218-23917218	22:23575031-23575031
21	IGLL1	NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu)	SNV	Uncertain significance	569037	rs746843426	22:23915733-23915733	22:23573546-23573546
22	IGLL1	NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro)	SNV	Uncertain significance	569973	rs142959335	22:23915718-23915718	22:23573531-23573531
23	IGLL1	NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln)	SNV	Uncertain significance	572361	rs569884568	22:23922181-23922181	22:23579994-23579994
24	IGLL1	NM_020070.4(IGLL1):c.458G>T (p.Gly153Val)	SNV	Uncertain significance	572836	rs138007109	22:23915637-23915637	22:23573450-23573450
25	IGLL1	NM_020070.4(IGLL1):c.322+3_322+6del	Microsatellite	Uncertain significance	574475	rs1184765604	22:23917148-23917151	22:23574961-23574964
26	IGLL1	NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala)	Indel	Uncertain significance	575852	rs1569069031	22:23915486-23915489	22:23573299-23573302
27	IGLL1	NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln)	SNV	Uncertain significance	575956	rs200178386	22:23917222-23917222	22:23575035-23575035
28	IGLL1	NM_020070.4(IGLL1):c.21G>C (p.Gln7His)	SNV	Uncertain significance	576645	rs1044209410	22:23922357-23922357	22:23580170-23580170
29	IGLL1	NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter)	SNV	Uncertain significance	580757	rs1569069105	22:23915542-23915542	22:23573355-23573355
30	IGLL1	NC_000022.10:g.(?_23917134)_(23922397_?)dup	Duplication	Uncertain significance	583726		22:23917134-23922397	22:23574947-23580210
31	IGLL1	NC_000022.11:g.(?_23574947)_(23580210_?)del	Deletion	Uncertain significance	583765		22:23917134-23922397	22:23574947-23580210
32	IGLL1	NM_020070.4(IGLL1):c.385A>C (p.Asn129His)	SNV	Uncertain significance	644108	rs1304505064	22:23915710-23915710	22:23573523-23573523
33	IGLL1	NM_020070.4(IGLL1):c.478G>A (p.Val160Met)	SNV	Uncertain significance	644111	rs138799296	22:23915617-23915617	22:23573430-23573430
34	IGLL1	NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg)	SNV	Uncertain significance	644739	rs775909535	22:23917175-23917175	22:23574988-23574988
35	IGLL1	NM_020070.4(IGLL1):c.316G>A (p.Val106Ile)	SNV	Uncertain significance	651440	rs747083240	22:23917160-23917160	22:23574973-23574973
36	IGLL1	NC_000022.10:g.(?_23915433)_(23922397_?)dup	Duplication	Uncertain significance	661192		22:23915433-23922397	22:23573246-23580210
37	IGLL1	NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys)	SNV	Uncertain significance	661875	rs537809626	22:23915727-23915727	22:23573540-23573540
38	IGLL1	NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser)	SNV	Uncertain significance	664104	rs1602287119	22:23915635-23915635	22:23573448-23573448
39	IGLL1	NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn)	SNV	Uncertain significance	664919	rs765426613	22:23915568-23915568	22:23573381-23573381
40	IGLL1	NM_020070.4(IGLL1):c.438G>A (p.Thr146=)	SNV	Likely benign	712388	rs377678203	22:23915657-23915657	22:23573470-23573470
41	IGLL1	NM_020070.4(IGLL1):c.594C>T (p.His198=)	SNV	Likely benign	712794	rs1064418	22:23915501-23915501	22:23573314-23573314
42	IGLL1	NM_020070.4(IGLL1):c.253C>T (p.Arg85Trp)	SNV	Likely benign	717970	rs369768094	22:23917223-23917223	22:23575036-23575036
43	IGLL1	NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr)	SNV	Likely benign	538828	rs149986237	22:23915761-23915761	22:23573574-23573574
44	IGLL1	NM_020070.4(IGLL1):c.618G>A (p.Thr206=)	SNV	Likely benign	538832	rs147356355	22:23915477-23915477	22:23573290-23573290
45	IGLL1	NM_020070.4(IGLL1):c.336C>T (p.Ala112=)	SNV	Likely benign	538833	rs140494226	22:23915759-23915759	22:23573572-23573572
46	IGLL1	NM_020070.4(IGLL1):c.345G>A (p.Ser115=)	SNV	Likely benign	720207	rs373712072	22:23915750-23915750	22:23573563-23573563
47	IGLL1	NM_020070.4(IGLL1):c.67C>T (p.Arg23Cys)	SNV	Likely benign	721827	rs114766892	22:23922311-23922311	22:23580124-23580124
48	IGLL1	NM_020070.4(IGLL1):c.420T>C (p.Phe140=)	SNV	Likely benign	618690	rs1064423	22:23915675-23915675	22:23573488-23573488
49	IGLL1	NM_020070.4(IGLL1):c.360G>A (p.Pro120=)	SNV	Likely benign	747278	rs184173813	22:23915735-23915735	22:23573548-23573548
50	IGLL1	NM_020070.4(IGLL1):c.468C>A (p.Ile156=)	SNV	Likely benign	753746	rs536839343	22:23915627-23915627	22:23573440-23573440

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Expression for Lambda 5 Deficiency

Search GEO for disease gene expression data for Lambda 5 Deficiency.

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Pathways for Lambda 5 Deficiency

Pathways related to Lambda 5 Deficiency according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cell surface interactions at the vascular wall ⁶⁵ Show member pathways Fibronectin matrix formation ⁶⁵ PECAM1 interactions ⁶⁵ Tie2 Signaling ⁶⁵	11.38	VPREB3 VPREB1 IGLL1
2	Fc-GammaR Pathway ⁶³ Show member pathways Fc-Gamma-RIIB Signaling in B-Cells ⁶³	11.37	CD79B BLNK
3	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁵ Show member pathways B-Cell Receptor Complex ⁶³ CD22 mediated BCR regulation ⁶⁵ CLEC7A (Dectin-1) induces NFAT activation ⁶⁵ FCERI mediated Ca+2 mobilization ⁶⁵	11.18	CD79B BLNK
4	Primary immunodeficiency ³⁶	10.38	RAG2 IGLL1 BLNK

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GO Terms for Lambda 5 Deficiency

Biological processes related to Lambda 5 Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	leukocyte migration	GO:0050900	9.43	VPREB3 VPREB1 IGLL1
2	B cell receptor signaling pathway	GO:0050853	9.33	IGLL1 CD79B BLNK
3	immunoglobulin production	GO:0002377	9.32	VPREB3 VPREB1
4	immune response	GO:0006955	9.26	VPREB3 VPREB1 IGLL1 CD79B
5	B cell differentiation	GO:0030183	8.8	RAG2 CD79B BLNK

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Sources for Lambda 5 Deficiency

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

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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