MCID: SLC007
MIFTS: 19

Selective Immunoglobulin Deficiency Disease

Categories: Immune diseases

Aliases & Classifications for Selective Immunoglobulin Deficiency Disease

MalaCards integrated aliases for Selective Immunoglobulin Deficiency Disease:

Name: Selective Immunoglobulin Deficiency Disease 12 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:6025
NCIt 50 C27870
UMLS 72 C0543684 C1335942

Summaries for Selective Immunoglobulin Deficiency Disease

Disease Ontology : 12 A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.

MalaCards based summary : Selective Immunoglobulin Deficiency Disease is related to immunoglobulin a deficiency 1 and dysgammaglobulinemia. An important gene associated with Selective Immunoglobulin Deficiency Disease is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are NF-kappaB Signaling and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. Affiliated tissues include b cells, and related phenotypes are hematopoietic system and immune system

Related Diseases for Selective Immunoglobulin Deficiency Disease

Graphical network of the top 20 diseases related to Selective Immunoglobulin Deficiency Disease:



Diseases related to Selective Immunoglobulin Deficiency Disease

Symptoms & Phenotypes for Selective Immunoglobulin Deficiency Disease

MGI Mouse Phenotypes related to Selective Immunoglobulin Deficiency Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 CD40LG ITK MAGT1 SH2D1A TGM2 TNFRSF13B
2 immune system MP:0005387 9.1 CD40LG ITK MAGT1 SH2D1A TGM2 TNFRSF13B

Drugs & Therapeutics for Selective Immunoglobulin Deficiency Disease

Search Clinical Trials , NIH Clinical Center for Selective Immunoglobulin Deficiency Disease

Genetic Tests for Selective Immunoglobulin Deficiency Disease

Anatomical Context for Selective Immunoglobulin Deficiency Disease

MalaCards organs/tissues related to Selective Immunoglobulin Deficiency Disease:

41
B Cells

Publications for Selective Immunoglobulin Deficiency Disease

Variations for Selective Immunoglobulin Deficiency Disease

Expression for Selective Immunoglobulin Deficiency Disease

Search GEO for disease gene expression data for Selective Immunoglobulin Deficiency Disease.

Pathways for Selective Immunoglobulin Deficiency Disease

Pathways related to Selective Immunoglobulin Deficiency Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.85 SH2D1A ITK CD40LG
2
Show member pathways
11.12 TNFRSF13B CD40LG
3 10.68 TNFRSF13B CD40LG
4 10.19 TNFRSF13B CD40LG

GO Terms for Selective Immunoglobulin Deficiency Disease

Biological processes related to Selective Immunoglobulin Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.26 TNFRSF13B CD40LG
2 cellular response to starvation GO:0009267 9.16 CLEC16A AMBRA1
3 cellular defense response GO:0006968 8.96 SH2D1A ITK
4 adaptive immune response GO:0002250 8.8 TNFRSF13B SH2D1A ITK

Sources for Selective Immunoglobulin Deficiency Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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