MCID: SLC007
MIFTS: 26

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 Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include b cells, bone and thymus, 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 137)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin a deficiency 1 32.2 TNFRSF13B ICOSLG CLEC16A CD40LG
2 dysgammaglobulinemia 27.5 XIAP UNC13D TNFRSF13B STXBP2 STX11 SLAMF7
3 selective igm deficiency disease 11.3
4 selective igd deficiency disease 11.3
5 coronin-1a deficiency 10.4 SH2D1A MAGT1
6 autoimmune neuropathy 10.4 ICOSLG CD40LG
7 transient hypogammaglobulinemia of infancy 10.4 TNFRSF13B CD40LG
8 agammaglobulinemia, x-linked 10.4 SH2D1A ICOSLG CD40LG
9 immunodeficiency with hyper-igm, type 5 10.4 TNFRSF13B CD40LG
10 immunodeficiency with hyper-igm, type 2 10.3 TNFRSF13B ICOSLG CD40LG
11 mikulicz disease 10.3 SLAMF7 ICOSLG
12 autoimmune disease of peripheral nervous system 10.2 ICOSLG CD40LG
13 monoclonal gammopathy of uncertain significance 10.2 SLAMF7 ICOSLG CD40LG
14 blood protein disease 10.2 SLAMF7 ICOSLG CD40LG
15 smoldering myeloma 10.2 SLAMF7 LY9 CD40LG
16 cd40 ligand deficiency 10.2 TNFRSF13B SH2D1A ICOSLG CD40LG
17 primary hemophagocytic lymphohistiocytosis 10.2 UNC13D STX11
18 hemophagocytic lymphohistiocytosis, familial, 5 10.1 STXBP2 STX11
19 agammaglobulinemia 10.1 STX11 ICOSLG CD40LG
20 cranial nerve palsy 10.1 UNC13D CD40LG
21 cork-handlers' disease 10.1 CD8A CD40LG
22 syphilitic meningitis 10.1 CD8A CD40LG
23 early yaws 10.0 CD8A CD40LG
24 norwegian scabies 10.0 CD8A CD40LG
25 tertiary syphilis 10.0 CD8A CD40LG
26 acute retinal necrosis syndrome 10.0 CD8A CD40LG
27 granulomatous hepatitis 10.0 CD8A CD40LG
28 oral hairy leukoplakia 10.0 SH2D1A CD8A
29 west nile encephalitis 10.0 CD8A CD40LG
30 cerebritis 10.0 CD8A CD40LG
31 parotid disease 10.0 CD8A CD40LG
32 immunodeficiency 19 10.0 SH2D1A CD8A
33 secondary syphilis 10.0 CD8A CD40LG
34 immune deficiency disease 10.0 TNFRSF13B SLAMF1 SH2D1A ICOSLG CD40LG
35 west nile fever 10.0 CD8A CD40LG
36 hemophagocytic lymphohistiocytosis, familial, 3 10.0 UNC13D STX11
37 blastomycosis 10.0 CD8A CD40LG
38 adenoid hypertrophy 10.0 CD8A CD40LG
39 autoimmune disease of cardiovascular system 10.0 ICOSLG CD8A
40 uveoparotid fever 9.9 CD8A CD40LG
41 duodenitis 9.9 CD8A CD40LG
42 ebola hemorrhagic fever 9.9 ICOSLG CD8A CD40LG
43 childhood type dermatomyositis 9.9 ICOSLG CD8A CD40LG
44 primary thrombocytopenia 9.9 ICOSLG CD8A CD40LG
45 monkeypox 9.9 CD8A CD40LG
46 lichen disease 9.9 ICOSLG CD8A CD40LG
47 autoimmune disease of blood 9.9 ICOSLG CD8A CD40LG
48 anemia, autoimmune hemolytic 9.9 ICOSLG CD8A CD40LG
49 lacrimal apparatus disease 9.9 ICOSLG CD8A CD40LG
50 chickenpox 9.9 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 9.86 CD244 CD40LG CD84 CD8A LY9 MAGT1
2 immune system MP:0005387 9.53 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, Bone, Thymus, T Cells, Bone Marrow, Lymph Node, Spinal Cord

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 membrane GO:0016020 10.03 UNC13D TNFRSF13B STXBP2 STX11 SLAMF7 SLAMF6
2 plasma membrane GO:0005886 9.77 TNFRSF13B STXBP2 STX11 SLAMF7 SLAMF6 SLAMF1
3 external side of plasma membrane GO:0009897 9.56 ICOSLG CD8A CD40LG CD244
4 integral component of membrane GO:0016021 9.47 TNFRSF13B STXBP2 STX11 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 exocytosis GO:0006887 9.61 UNC13D STXBP2 STX11
4 adaptive immune response GO:0002250 9.56 TNFRSF13B SLAMF7 SLAMF1 SH2D1B SH2D1A ICOSLG
5 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.46 SLAMF6 SH2D1A
6 positive regulation of interleukin-17 production GO:0032740 9.4 SLAMF6 LY9
7 regulation of mast cell degranulation GO:0043304 9.37 UNC13D STXBP2
8 immune system process GO:0002376 9.36 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
9 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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