MCID: SLC007
MIFTS: 23

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 71

Classifications:



External Ids:

Disease Ontology 12 DOID:6025
NCIt 49 C27870
UMLS 71 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 Class I MHC mediated antigen processing and presentation and Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include b cells, and related phenotypes are hematopoietic system and immune system

Related Diseases for Selective Immunoglobulin Deficiency Disease

Diseases related to Selective Immunoglobulin Deficiency Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin a deficiency 1 31.4 TNFRSF13B TGM2 RNU4ATAC CLEC16A CD40LG
2 dysgammaglobulinemia 27.4 XIAP TNFRSF13B TGM2 SLAMF7 SLAMF6 SLAMF1
3 selective igm deficiency disease 11.3
4 selective igd deficiency disease 11.3
5 autoimmune peripheral neuropathy 10.5 ICOSLG CD40LG
6 autoimmune neuropathy 10.4 ICOSLG CD40LG
7 coronin-1a deficiency 10.4 SH2D1A MAGT1
8 cork-handlers' disease 10.4 CD8A CD40LG
9 selective igg deficiency disease 10.4 TNFRSF13B CD40LG
10 immunodeficiency with hyper-igm, type 5 10.4 TNFRSF13B CD40LG
11 early yaws 10.4 CD8A CD40LG
12 norwegian scabies 10.4 CD8A CD40LG
13 agammaglobulinemia, x-linked 10.4 SH2D1A ICOSLG CD40LG
14 viral exanthem 10.4 CD8A CD40LG
15 tertiary syphilis 10.4 CD8A CD40LG
16 acute retinal necrosis syndrome 10.4 CD8A CD40LG
17 oral hairy leukoplakia 10.4 SH2D1A CD8A
18 cerebritis 10.3 CD8A CD40LG
19 granulomatous hepatitis 10.3 CD8A CD40LG
20 trichohepatoenteric syndrome 2 10.3 ICOSLG CLEC16A
21 west nile encephalitis 10.3 CD8A CD40LG
22 secondary syphilis 10.3 CD8A CD40LG
23 parotid disease 10.3 CD8A CD40LG
24 west nile fever 10.3 CD8A CD40LG
25 immunodeficiency with hyper-igm, type 2 10.3 TNFRSF13B ICOSLG CD40LG
26 dacryoadenitis 10.3 ICOSLG CD8A
27 transient hypogammaglobulinemia 10.3 TNFRSF13B RNU4ATAC CD40LG
28 adenoid hypertrophy 10.3 CD8A CD40LG
29 xerophthalmia 10.3 CD8A CD40LG
30 miliary tuberculosis 10.3 CD8A CD40LG
31 mikulicz disease 10.3 SLAMF7 CD40LG
32 monkeypox 10.3 CD8A CD40LG
33 iritis 10.3 CD8A CD40LG
34 immunodeficiency with hyper-igm, type 3 10.3 ICOSLG CD8A CD40LG
35 cryptogenic organizing pneumonia 10.3 CD8A CD40LG
36 autoimmune disease of urogenital tract 10.3 ICOSLG CD8A CD40LG
37 primary thrombocytopenia 10.3 ICOSLG CD8A CD40LG
38 lichen disease 10.3 ICOSLG CD8A CD40LG
39 autoimmune disease of peripheral nervous system 10.3 ICOSLG CD8A CD40LG
40 t cell deficiency 10.3 ICOSLG CD8A CD40LG
41 autoimmune disease of blood 10.2 ICOSLG CD8A CD40LG
42 panuveitis 10.2 ICOSLG CD8A CD40LG
43 herpangina 10.2 ICOSLG CD8A CD40LG
44 autoimmune disease of exocrine system 10.2 ICOSLG CD8A CD40LG
45 coccidiosis 10.2 ICOSLG CD8A CD40LG
46 conjunctival disease 10.2 ICOSLG CD8A CD40LG
47 progressive multifocal leukoencephalopathy 10.2 ICOSLG CD8A CD40LG
48 thymus gland disease 10.2 ICOSLG CD8A CD40LG
49 paranasal sinus disease 10.2 ICOSLG CD8A CD40LG
50 rectal disease 10.2 ICOSLG CD8A CD40LG

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.83 CD244 CD40LG CD84 CD8A LY9 MAGT1
2 immune system MP:0005387 9.5 CD244 CD40LG CD84 CD8A LY9 MAGT1

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:

40
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

GO Terms for Selective Immunoglobulin Deficiency Disease

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.77 TNFRSF13B STXBP2 SLAMF7 SLAMF6 SLAMF1 MAGT1
2 plasma membrane GO:0005886 9.44 TNFRSF13B TGM2 STXBP2 SLAMF7 SLAMF6 SLAMF1

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.86 SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A LY9
2 regulation of immune response GO:0050776 9.7 SLAMF7 SLAMF6 SH2D1B SH2D1A ICOSLG CD8A
3 immune system process GO:0002376 9.7 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
4 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.4 SLAMF6 SH2D1A
5 positive regulation of interleukin-17 production GO:0032740 9.37 SLAMF6 LY9
6 adaptive immune response GO:0002250 9.36 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
7 T-helper 17 cell lineage commitment GO:0072540 9.32 SLAMF6 LY9

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

# Name GO ID Score Top Affiliating Genes
1 MHC class I protein binding GO:0042288 8.62 CD8A CD244

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 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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