Selective Immunoglobulin Deficiency Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Selective Immunoglobulin Deficiency Disease

MalaCards integrated aliases for Selective Immunoglobulin Deficiency Disease:

Name: Selective Immunoglobulin Deficiency Disease ¹² ¹⁵ ⁷¹

Classifications:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:6025

NCIt ⁵⁰ C27870

UMLS ⁷¹ C0543684 C1335942

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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

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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:

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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

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Drugs & Therapeutics for Selective Immunoglobulin Deficiency Disease

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

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Genetic Tests for Selective Immunoglobulin Deficiency Disease

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Anatomical Context for Selective Immunoglobulin Deficiency Disease

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Publications for Selective Immunoglobulin Deficiency Disease

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Genes for Selective Immunoglobulin Deficiency Disease

Genes related to Selective Immunoglobulin Deficiency Disease (0 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SH2D1A	SH2 Domain Containing 1A	Protein Coding	8.2	DISEASES inferred ¹⁵
2	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	7.3	DISEASES inferred ¹⁵ ¹⁵
3	SLAMF1	Signaling Lymphocytic Activation Molecule Family Member 1	Protein Coding	7.21	DISEASES inferred ¹⁵
4	SLAMF6	SLAM Family Member 6	Protein Coding	6.71	DISEASES inferred ¹⁵
5	LY9	Lymphocyte Antigen 9	Protein Coding	6.7	DISEASES inferred ¹⁵
6	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	6.69	DISEASES inferred ¹⁵ ¹⁵
7	CD84	CD84 Molecule	Protein Coding	6.64	DISEASES inferred ¹⁵
8	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	6.25	DISEASES inferred ¹⁵
9	MAGT1	Magnesium Transporter 1	Protein Coding	6.2	DISEASES inferred ¹⁵
10	CLEC16A	C-Type Lectin Domain Containing 16A	Protein Coding	6.09	DISEASES inferred ¹⁵
11	CD244	CD244 Molecule	Protein Coding	5.85	DISEASES inferred ¹⁵
12	CD8A	CD8a Molecule	Protein Coding	5.8	DISEASES inferred ¹⁵
13	SLAMF7	SLAM Family Member 7	Protein Coding	5.78	DISEASES inferred ¹⁵
14	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	5.77	DISEASES inferred ¹⁵
15	SH2D1B	SH2 Domain Containing 1B	Protein Coding	5.67	DISEASES inferred ¹⁵
16	STXBP2	Syntaxin Binding Protein 2	Protein Coding	5.65	DISEASES inferred ¹⁵
17	UNC13D	Unc-13 Homolog D	Protein Coding	5.55	DISEASES inferred ¹⁵
18	TGM2	Transglutaminase 2	Protein Coding	5.55	DISEASES inferred ¹⁵

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Variations for Selective Immunoglobulin Deficiency Disease

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Expression for Selective Immunoglobulin Deficiency Disease

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

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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	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.52	SLAMF1 LY9 CD8A CD244
2	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.48	SLAMF7 SLAMF6 SH2D1B SH2D1A CD8A
3	Dendritic Cells Developmental Lineage Pathway ⁶⁴	11.3	SLAMF1 CD8A CD244
4	IgA-Producing B Cells in the Intestine ⁶⁴	10.84	TNFRSF13B SLAMF6 SLAMF1 ICOSLG CD84

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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

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Sources for Selective Immunoglobulin Deficiency Disease

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