MCID: SLC007
MIFTS: 21

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 50 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 Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. 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 65)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin a deficiency 1 31.6 TNFRSF13B TGM2 RNU4ATAC CLEC16A
2 dysgammaglobulinemia 28.4 XIAP TNFRSF13B STXBP2 SLAMF7 SLAMF6 SLAMF1
3 selective igm deficiency disease 11.2
4 selective igd deficiency disease 11.2
5 transient hypogammaglobulinemia 10.3 TNFRSF13B RNU4ATAC
6 trichohepatoenteric syndrome 2 10.3 ICOSLG CLEC16A
7 dacryoadenitis 10.2 ICOSLG CD8A
8 granulomatous hepatitis 10.2 TNFRSF13B CD8A
9 immunodeficiency with hyper-igm, type 3 10.2 ICOSLG CD8A
10 immunodeficiency 16 10.2 ICOSLG CD8A
11 immunodeficiency 13 10.2 MAGT1 ICOSLG
12 agammaglobulinemia 10.2 TNFRSF13B SH2D1A ICOSLG
13 autoimmune glomerulonephritis 10.2 ICOSLG CD8A
14 good syndrome 10.2 TNFRSF13B CD8A
15 transient hypogammaglobulinemia of infancy 10.2 TNFRSF13B RNU4ATAC CD84
16 autoimmune disease of urogenital tract 10.2 ICOSLG CD8A
17 chickenpox 10.1 RNU4ATAC ICOSLG CD8A
18 herpangina 10.1 RNU4ATAC ICOSLG CD8A
19 salivary gland disease 10.1 RNU4ATAC ICOSLG CD8A
20 x-linked recessive disease 10.1 SH2D1A ICOSLG CD8A
21 thrombocytopenia due to platelet alloimmunization 10.1 TNFRSF13B ICOSLG CD8A
22 hair disease 10.1 RNU4ATAC ICOSLG CD8A
23 klebsiella pneumonia 10.1 ICOSLG CD8A
24 potocki-shaffer syndrome 10.1 TNFRSF13B ICOSLG CD8A
25 autoimmune disease of eyes, ear, nose and throat 10.1 ICOSLG CD8A
26 submandibular gland disease 10.1 SLAMF7 SH2D1B
27 omenn syndrome 10.1 MAGT1 ICOSLG CD8A
28 duodenitis 10.0 TGM2 CD8A
29 intestinal schistosomiasis 10.0 ICOSLG CD8A
30 pfeiffer syndrome 10.0 SLAMF6 SLAMF1 SH2D1A CD8A
31 cone-rod dystrophy 1 10.0 TNFRSF13B ICOSLG
32 lymphocytic colitis 10.0 TGM2 CD8A
33 cd40 ligand deficiency 10.0 TNFRSF13B SH2D1A ICOSLG CD8A
34 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 10.0 SLAMF6 SH2D1A MAGT1 CD8A
35 immunodeficiency 20 10.0 UNC13D ICOSLG
36 autoimmune disease of skin and connective tissue 10.0 TGM2 ICOSLG CD8A
37 mycobacterium tuberculosis 1 10.0 ICOSLG CD8A CD244
38 autoimmune disease of gastrointestinal tract 10.0 TGM2 ICOSLG CD8A
39 giardiasis 9.9 TGM2 CD8A
40 immune deficiency disease 9.9 TNFRSF13B SLAMF1 SH2D1A ICOSLG CD8A
41 primary thrombocytopenia 9.9 ICOSLG CD8A
42 immunoglobulin alpha deficiency 9.9 TNFRSF13B TGM2 ICOSLG CD8A
43 celiac disease 1 9.8 TGM2 ICOSLG CLEC16A CD8A
44 common variable immunodeficiency 9.8 XIAP TNFRSF13B SH2D1A ICOSLG CLEC16A
45 hemophagocytic lymphohistiocytosis, familial, 5 9.8 UNC13D STXBP2
46 lymphoma, non-hodgkin, familial 9.8 XIAP TNFRSF13B SH2D1A ICOSLG CD8A
47 myeloma, multiple 9.8 XIAP SLAMF7 ICOSLG CD8A
48 hemophagocytic lymphohistiocytosis, familial, 4 9.7 UNC13D STXBP2
49 leukemia, chronic lymphocytic 9.7 XIAP TNFRSF13B ICOSLG CD8A CD84
50 griscelli syndrome, type 2 9.7 UNC13D STXBP2 SH2D1A

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 9.83 CD244 CD84 CD8A LY9 MAGT1 SH2D1A
2 immune system MP:0005387 9.5 CD244 CD84 CD8A LY9 MAGT1 SH2D1A

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

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 9.73 TNFRSF13B STXBP2 SLAMF7 SLAMF6 SLAMF1 MAGT1
2 plasma membrane GO:0005886 9.4 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 9.76 SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A LY9
2 immune system process GO:0002376 9.7 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
3 regulation of immune response GO:0050776 9.65 SLAMF7 SLAMF6 SH2D1B SH2D1A CD8A
4 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.43 SLAMF6 SH2D1A
5 positive regulation of interleukin-17 production GO:0032740 9.4 SLAMF6 LY9
6 regulation of mast cell degranulation GO:0043304 9.37 UNC13D STXBP2
7 adaptive immune response GO:0002250 9.36 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
8 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
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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