MCID: LMB004
MIFTS: 21

Lambda 5 Deficiency

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Lambda 5 Deficiency

MalaCards integrated aliases for Lambda 5 Deficiency:

Name: Lambda 5 Deficiency 12 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060024

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.

Related Diseases for Lambda 5 Deficiency

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



Diseases related to Lambda 5 Deficiency

Symptoms & Phenotypes for Lambda 5 Deficiency

Drugs & Therapeutics for Lambda 5 Deficiency

Search Clinical Trials , NIH Clinical Center for Lambda 5 Deficiency

Genetic Tests for Lambda 5 Deficiency

Anatomical Context for Lambda 5 Deficiency

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
25502423 2014
2
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. 6
9419212 1998

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

Expression for Lambda 5 Deficiency

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

Pathways for Lambda 5 Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.38 VPREB3 VPREB1 IGLL1
2
Show member pathways
11.37 CD79B BLNK
3
Show member pathways
11.18 CD79B BLNK
4 10.38 RAG2 IGLL1 BLNK

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

Sources for Lambda 5 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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