MCID: LMB004
MIFTS: 14

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 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. Affiliated tissues include b cells.

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 9.8 VPREB1 IGLL1
2 congenital hypogammaglobulinemia 9.7 IGLL1 BLNK
3 b cell deficiency 9.5 RAG2 IGLL1
4 agammaglobulinemia 4, autosomal recessive 9.5 CD79B BLNK
5 hyperpigmentation with or without hypopigmentation, familial progressive 9.5 VPREB1 IGLL1 CD79B
6 agammaglobulinemia, non-bruton type 9.4 IGLL1 CD79B BLNK
7 agammaglobulinemia 9.1 VPREB1 IGLL1 CD79B BLNK

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

MalaCards organs/tissues related to Lambda 5 Deficiency:

40
B Cells

Publications for Lambda 5 Deficiency

Variations for Lambda 5 Deficiency

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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