MCID: LMB004
MIFTS: 27

Lambda 5 Deficiency

Categories: Genetic diseases, Immune diseases
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Aliases & Classifications for Lambda 5 Deficiency

MalaCards integrated aliases for Lambda 5 Deficiency:

Name: Lambda 5 Deficiency 11 5 14

Classifications:



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Disease Ontology 11 DOID:0060024

Summaries for Lambda 5 Deficiency

Disease Ontology: 11 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 bn2 diffuse large b-cell lymphoma. An important gene associated with Lambda 5 Deficiency is IGLL1 (Immunoglobulin Lambda Like Polypeptide 1), and among its related pathways/superpathways are Disease and GPCR Pathway. Related phenotypes are immune system and neoplasm

Related Diseases for Lambda 5 Deficiency

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 mu chain disease 10.1 VPREB1 IGLL1
2 bn2 diffuse large b-cell lymphoma 10.0 CD79B BTK
3 ecthyma 10.0 CD79B BTK
4 bird fancier's lung 10.0 IGLL1 CD79A
5 diffuse large b-cell lymphoma activated b-cell type 10.0 CD79B BTK
6 richter's syndrome 10.0 CD79B BTK
7 cerebral lymphoma 9.9 CD79B CD79A
8 b-cell prolymphocytic leukemia 9.9 CD79B CD79A
9 eye lymphoma 9.9 CD79B CD79A
10 amebiasis 9.9 IGLL1 CD79A
11 plasma protein metabolism disease 9.9 CD79B BTK
12 spleen cancer 9.9 CD79B CD79A
13 primary mediastinal b-cell lymphoma 9.9 CD79B CD79A
14 splenic marginal zone lymphoma 9.9 CD79B CD79A
15 waldenstroem's macroglobulinemia 9.9 CD79B BTK
16 immunoglobulin a deficiency 1 9.9 CD79A BTK
17 macroglobulinemia 9.8 BTK BLNK
18 immunodeficiency with hyper-igm, type 1 9.8 CD79A BTK
19 congenital hypogammaglobulinemia 9.8 IGLL1 BTK BLNK
20 heavy chain disease 9.8 VPREB1 IGLL1 CD79A
21 b cell deficiency 9.8 IGLL1 BTK BLNK
22 mature b-cell neoplasm 9.7 CD79B CD79A
23 mcd diffuse large b-cell lymphoma 9.7 CD79B CD79A BTK
24 diffuse large b-cell lymphoma 9.7 CD79B CD79A BTK
25 testicular lymphoma 9.7 CD79B CD79A BTK
26 chronic lymphocytic leukemia/small lymphocytic lymphoma 9.7 CD79B CD79A BTK
27 lymphoplasmacytic lymphoma 9.7 CD79B CD79A BTK
28 central nervous system hematologic cancer 9.7 CD79B CD79A BTK
29 central nervous system lymphoma 9.7 CD79B CD79A BTK
30 marginal zone b-cell lymphoma 9.7 CD79B CD79A BTK
31 lymphoma, mucosa-associated lymphoid type 9.7 CD79B CD79A BTK
32 mantle cell lymphoma 9.7 CD79B CD79A BTK
33 common variable immunodeficiency 9.6 VPREB1 CD79A BTK
34 plasmacytoma 9.6 CD79B CD79A
35 leukemia, acute lymphoblastic 9.6 VPREB1 BTK BLNK
36 agammaglobulinemia 4, autosomal recessive 9.5 VPREB1 CD79B CD79A BLNK
37 lymphoma, non-hodgkin, familial 9.5 CD79B CD79A BTK
38 agammaglobulinemia, x-linked 9.4 CD79B CD79A BTK BLNK
39 agammaglobulinemia, non-bruton type 9.1 PIK3R1 IGLL1 CD79B CD79A BLNK
40 agammaglobulinemia 8.6 VPREB1 PIK3R1 IGLL1 CD79B CD79A BTK

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



Diseases related to Lambda 5 Deficiency

Symptoms & Phenotypes for Lambda 5 Deficiency

MGI Mouse Phenotypes related to Lambda 5 Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.5 BLNK BTK CD79A CD79B IGLL1 PIK3R1
2 neoplasm MP:0002006 9.46 BLNK BTK CD79A PIK3R1
3 hematopoietic system MP:0005397 9.17 BLNK BTK CD79A CD79B IGLL1 PIK3R1

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
Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency. 5
32888943 2021
2
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach. 5
25502423 2014
3
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. 5
9419212 1998

Variations for Lambda 5 Deficiency

ClinVar genetic disease variations for Lambda 5 Deficiency:

5 (show top 50) (show all 148)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IGLL1 NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter) SNV Pathogenic
14824 rs74315491 GRCh37: 22:23922314-23922314
GRCh38: 22:23580127-23580127
2 IGLL1 NM_020070.4(IGLL1):c.258del (p.Gln88fs) DEL Conflicting Interpretations Of Pathogenicity
236015 rs532338576 GRCh37: 22:23917218-23917218
GRCh38: 22:23575031-23575031
3 IGLL1 NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) SNV Conflicting Interpretations Of Pathogenicity
538828 rs149986237 GRCh37: 22:23915761-23915761
GRCh38: 22:23573574-23573574
4 IGLL1 NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile) SNV Conflicting Interpretations Of Pathogenicity
791698 rs143780139 GRCh37: 22:23915745-23915745
GRCh38: 22:23573558-23573558
5 IGLL1 NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) SNV Conflicting Interpretations Of Pathogenicity
439824 rs139491925 GRCh37: 22:23915479-23915479
GRCh38: 22:23573292-23573292
6 IGLL1 NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) SNV Conflicting Interpretations Of Pathogenicity
547919 rs112775194 GRCh37: 22:23915658-23915658
GRCh38: 22:23573471-23573471
7 IGLL1 NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) SNV Uncertain Significance
14825 rs1064422 GRCh37: 22:23915670-23915670
GRCh38: 22:23573483-23573483
8 IGLL1 NM_020070.4(IGLL1):c.335C>A (p.Ala112Asp) SNV Uncertain Significance
1356613 GRCh37: 22:23915760-23915760
GRCh38: 22:23573573-23573573
9 IGLL1 NM_020070.4(IGLL1):c.14C>G (p.Thr5Arg) SNV Uncertain Significance
1387818 GRCh37: 22:23922364-23922364
GRCh38: 22:23580177-23580177
10 IGLL1 NM_020070.4(IGLL1):c.134C>T (p.Ser45Leu) SNV Uncertain Significance
1391863 GRCh37: 22:23922244-23922244
GRCh38: 22:23580057-23580057
11 IGLL1 NM_020070.4(IGLL1):c.477C>T (p.Gly159=) SNV Uncertain Significance
1395050 GRCh37: 22:23915618-23915618
GRCh38: 22:23573431-23573431
12 IGLL1 NM_020070.4(IGLL1):c.545C>T (p.Thr182Met) SNV Uncertain Significance
1376930 GRCh37: 22:23915550-23915550
GRCh38: 22:23573363-23573363
13 IGLL1 NM_020070.4(IGLL1):c.241A>G (p.Arg81Gly) SNV Uncertain Significance
1376935 GRCh37: 22:23917235-23917235
GRCh38: 22:23575048-23575048
14 IGLL1 NM_020070.4(IGLL1):c.590T>G (p.Met197Arg) SNV Uncertain Significance
1363505 GRCh37: 22:23915505-23915505
GRCh38: 22:23573318-23573318
15 IGLL1 NM_020070.4(IGLL1):c.232A>C (p.Thr78Pro) SNV Uncertain Significance
1397988 GRCh37: 22:23917244-23917244
GRCh38: 22:23575057-23575057
16 IGLL1 NM_020070.4(IGLL1):c.446G>T (p.Trp149Leu) SNV Uncertain Significance
1414307 GRCh37: 22:23915649-23915649
GRCh38: 22:23573462-23573462
17 IGLL1 NM_020070.4(IGLL1):c.323G>A (p.Ser108Asn) SNV Uncertain Significance
1426980 GRCh37: 22:23915772-23915772
GRCh38: 22:23573585-23573585
18 IGLL1 NM_020070.4(IGLL1):c.426G>A (p.Pro142=) SNV Uncertain Significance
1445521 GRCh37: 22:23915669-23915669
GRCh38: 22:23573482-23573482
19 IGLL1 NM_020070.4(IGLL1):c.367T>C (p.Ser123Pro) SNV Uncertain Significance
1435654 GRCh37: 22:23915728-23915728
GRCh38: 22:23573541-23573541
20 IGLL1 NM_020070.4(IGLL1):c.605C>G (p.Thr202Ser) SNV Uncertain Significance
1497677 GRCh37: 22:23915490-23915490
GRCh38: 22:23573303-23573303
21 IGLL1 NM_020070.4(IGLL1):c.585G>T (p.Gln195His) SNV Uncertain Significance
1504082 GRCh37: 22:23915510-23915510
GRCh38: 22:23573323-23573323
22 IGLL1 NM_020070.4(IGLL1):c.520G>T (p.Ala174Ser) SNV Uncertain Significance
1345788 GRCh37: 22:23915575-23915575
GRCh38: 22:23573388-23573388
23 IGLL1 NM_020070.4(IGLL1):c.288T>G (p.His96Gln) SNV Uncertain Significance
1348438 GRCh37: 22:23917188-23917188
GRCh38: 22:23575001-23575001
24 IGLL1 NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu) SNV Uncertain Significance
836258 rs569884568 GRCh37: 22:23922181-23922181
GRCh38: 22:23579994-23579994
25 IGLL1 NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys) SNV Uncertain Significance
840747 rs199529532 GRCh37: 22:23922260-23922260
GRCh38: 22:23580073-23580073
26 IGLL1 NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly) SNV Uncertain Significance
847416 rs146108390 GRCh37: 22:23922200-23922200
GRCh38: 22:23580013-23580013
27 IGLL1 NM_020070.4(IGLL1):c.35C>T (p.Ala12Val) SNV Uncertain Significance
939503 rs775788164 GRCh37: 22:23922343-23922343
GRCh38: 22:23580156-23580156
28 IGLL1 NM_020070.4(IGLL1):c.619G>A (p.Val207Met) SNV Uncertain Significance
947731 rs779159751 GRCh37: 22:23915476-23915476
GRCh38: 22:23573289-23573289
29 IGLL1 NM_020070.4(IGLL1):c.178C>T (p.Arg60Trp) SNV Uncertain Significance
965383 rs146108390 GRCh37: 22:23922200-23922200
GRCh38: 22:23580013-23580013
30 IGLL1 NM_020070.4(IGLL1):c.17G>T (p.Gly6Val) SNV Uncertain Significance
965546 rs1460659708 GRCh37: 22:23922361-23922361
GRCh38: 22:23580174-23580174
31 IGLL1 NM_020070.4(IGLL1):c.163C>T (p.Pro55Ser) SNV Uncertain Significance
1002499 rs759845022 GRCh37: 22:23922215-23922215
GRCh38: 22:23580028-23580028
32 IGLL1 NM_020070.4(IGLL1):c.53C>T (p.Pro18Leu) SNV Uncertain Significance
1025838 rs374187217 GRCh37: 22:23922325-23922325
GRCh38: 22:23580138-23580138
33 IGLL1 NM_020070.4(IGLL1):c.606_607del (p.Val203fs) DEL Uncertain Significance
1044631 rs765895465 GRCh37: 22:23915488-23915489
GRCh38: 22:23573301-23573302
34 IGLL1 NM_020070.4(IGLL1):c.550G>A (p.Glu184Lys) SNV Uncertain Significance
1054982 GRCh37: 22:23915545-23915545
GRCh38: 22:23573358-23573358
35 IGLL1 NM_020070.4(IGLL1):c.617C>T (p.Thr206Met) SNV Uncertain Significance
1057687 GRCh37: 22:23915478-23915478
GRCh38: 22:23573291-23573291
36 IGLL1 NM_020070.4(IGLL1):c.338C>A (p.Thr113Asn) SNV Uncertain Significance
1063380 GRCh37: 22:23915757-23915757
GRCh38: 22:23573570-23573570
37 IGLL1 NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu) SNV Uncertain Significance
569037 rs746843426 GRCh37: 22:23915733-23915733
GRCh38: 22:23573546-23573546
38 IGLL1 NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro) SNV Uncertain Significance
569973 rs142959335 GRCh37: 22:23915718-23915718
GRCh38: 22:23573531-23573531
39 IGLL1 NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln) SNV Uncertain Significance
572361 rs569884568 GRCh37: 22:23922181-23922181
GRCh38: 22:23579994-23579994
40 IGLL1 NM_020070.4(IGLL1):c.458G>T (p.Gly153Val) SNV Uncertain Significance
572836 rs138007109 GRCh37: 22:23915637-23915637
GRCh38: 22:23573450-23573450
41 IGLL1 NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala) INDEL Uncertain Significance
575852 rs1569069031 GRCh37: 22:23915486-23915489
GRCh38: 22:23573299-23573302
42 IGLL1 NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln) SNV Uncertain Significance
575956 rs200178386 GRCh37: 22:23917222-23917222
GRCh38: 22:23575035-23575035
43 IGLL1 NM_020070.4(IGLL1):c.21G>C (p.Gln7His) SNV Uncertain Significance
576645 rs1044209410 GRCh37: 22:23922357-23922357
GRCh38: 22:23580170-23580170
44 IGLL1 NM_020070.4(IGLL1):c.478G>A (p.Val160Met) SNV Uncertain Significance
644111 rs138799296 GRCh37: 22:23915617-23915617
GRCh38: 22:23573430-23573430
45 IGLL1 NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg) SNV Uncertain Significance
644739 rs775909535 GRCh37: 22:23917175-23917175
GRCh38: 22:23574988-23574988
46 IGLL1 NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys) SNV Uncertain Significance
661875 rs537809626 GRCh37: 22:23915727-23915727
GRCh38: 22:23573540-23573540
47 IGLL1 NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser) SNV Uncertain Significance
664104 rs1602287119 GRCh37: 22:23915635-23915635
GRCh38: 22:23573448-23573448
48 IGLL1 NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn) SNV Uncertain Significance
664919 rs765426613 GRCh37: 22:23915568-23915568
GRCh38: 22:23573381-23573381
49 IGLL1 NM_020070.4(IGLL1):c.607G>A (p.Val203Met) SNV Uncertain Significance
538827 rs771552908 GRCh37: 22:23915488-23915488
GRCh38: 22:23573301-23573301
50 IGLL1 NC_000022.10:g.(?_23917134)_(23922397_?)dup DUP Uncertain Significance
583726 GRCh37: 22:23917134-23922397
GRCh38: 22:23574947-23580210

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:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 PIK3R1 CD79B CD79A BTK BLNK
2
Show member pathways
13.29 PIK3R1 CD79B CD79A BTK BLNK
3
Show member pathways
13.14 PIK3R1 CD79B CD79A BTK BLNK
4
Show member pathways
13.08 PIK3R1 CD79B CD79A BTK BLNK
5
Show member pathways
12.94 PIK3R1 CD79B CD79A BTK
6
Show member pathways
12.87 CD79B CD79A BTK BLNK
7
Show member pathways
12.73 PIK3R1 CD79B CD79A BTK BLNK
8
Show member pathways
12.52 BTK CD79A CD79B PIK3R1
9
Show member pathways
12.28 PIK3R1 CD79B CD79A BTK BLNK
10 12.23 BLNK BTK CD79A
11
Show member pathways
11.99 PIK3R1 CD79B CD79A BTK BLNK
12
Show member pathways
11.89 VPREB1 PIK3R1 IGLL1
13
Show member pathways
11.67 PIK3R1 CD79B CD79A BTK BLNK
14 11.66 CD79B CD79A BTK BLNK
15
Show member pathways
11.57 PIK3R1 BTK
16
Show member pathways
11.46 PIK3R1 BTK
17 11.43 CD79A BLNK
18 11.17 PIK3R1 CD79B CD79A BTK BLNK
19 11.04 PIK3R1 BTK BLNK
20
Show member pathways
10.61 PIK3R1 CD79B CD79A BTK BLNK

GO Terms for Lambda 5 Deficiency

Cellular components related to Lambda 5 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 B cell receptor complex GO:0019815 8.92 CD79B CD79A

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.86 VPREB1 PIK3R1 IGLL1 CD79B
2 B cell differentiation GO:0030183 9.56 PIK3R1 CD79B CD79A BLNK
3 B cell activation GO:0042113 9.55 CD79A BTK BLNK
4 B cell receptor signaling pathway GO:0050853 9.32 IGLL1 CD79B CD79A BTK BLNK

Molecular functions related to Lambda 5 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipase binding GO:0043274 9.26 BTK BLNK
2 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 8.92 PIK3R1 BLNK

Sources for Lambda 5 Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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