MCID: HYP067
MIFTS: 24

Hyperimmunoglobulin Syndrome

Categories: Immune diseases

Aliases & Classifications for Hyperimmunoglobulin Syndrome

MalaCards integrated aliases for Hyperimmunoglobulin Syndrome:

Name: Hyperimmunoglobulin Syndrome 12 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:2959
NCIt 51 C27579
UMLS 74 C1334069

Summaries for Hyperimmunoglobulin Syndrome

Disease Ontology : 12 A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.

MalaCards based summary : Hyperimmunoglobulin Syndrome is related to immunodeficiency with hyper-igm, type 4 and immunodeficiency with hyper-igm, type 2. An important gene associated with Hyperimmunoglobulin Syndrome is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Allograft rejection and Immune response NFAT in immune response. Affiliated tissues include b cells, and related phenotypes are hematopoietic system and immune system

Related Diseases for Hyperimmunoglobulin Syndrome

Diseases in the Hyperimmunoglobulin Syndrome family:

Hyperimmunoglobulin G1 Syndrome

Diseases related to Hyperimmunoglobulin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 4 31.0 AICDA CD40 CD40LG UNG
2 immunodeficiency with hyper-igm, type 2 30.6 AICDA CD40 CD40LG ICOSLG UNG
3 immunodeficiency with hyper-igm, type 5 11.1
4 light fixation seizure syndrome 10.2 CD40 CD40LG
5 sulfamethoxazole allergy 10.2 CD40 CD40LG
6 suppurative lymphadenitis 10.1 DOCK8 STAT3
7 exanthema subitum 10.1 CD40 CD40LG
8 mixed lacrimal gland cancer 10.1 STAT3 TYK2
9 immunodeficiency 17 10.1 CD40LG DOCK8
10 agammaglobulinemia, x-linked 10.0 CD40 CD40LG
11 waldenstrom macroglobulinemia 10.0 CD40 CD40LG
12 immune deficiency disease 10.0 CD40 CD40LG DOCK8
13 common variable immunodeficiency 9.9 AICDA CD40 CD40LG
14 congenital rubella 9.9 CD40LG UNG
15 burkitt lymphoma 9.9 AICDA CD40 CD40LG
16 autoimmune disease 9.9 CD40 CD40LG STAT3
17 toxoplasmosis 9.9 CD40 CD40LG
18 immunodeficiency with hyper-igm, type 3 9.8 AICDA CD40 CD40LG DOCK8
19 leukemia, chronic lymphocytic 9.8 AICDA CD40 CD40LG STAT3
20 transient hypogammaglobulinemia of infancy 9.8 CD40 CD40LG UNG
21 cd40 ligand deficiency 9.6 AICDA CD40 CD40LG UNG
22 immunodeficiency with hyper-igm, type 1 9.6 AICDA CD40 CD40LG UNG
23 b cell deficiency 9.5 AICDA CD40 CD40LG DOCK8 STAT3
24 hyper ige syndrome 9.5 DOCK8 PGM3 STAT3 TYK2

Graphical network of the top 20 diseases related to Hyperimmunoglobulin Syndrome:



Diseases related to Hyperimmunoglobulin Syndrome

Symptoms & Phenotypes for Hyperimmunoglobulin Syndrome

MGI Mouse Phenotypes related to Hyperimmunoglobulin Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.56 AICDA CD40 CD40LG DOCK8 PGM3 STAT3
2 immune system MP:0005387 9.23 AICDA CD40 CD40LG DOCK8 PGM3 STAT3

Drugs & Therapeutics for Hyperimmunoglobulin Syndrome

Search Clinical Trials , NIH Clinical Center for Hyperimmunoglobulin Syndrome

Genetic Tests for Hyperimmunoglobulin Syndrome

Anatomical Context for Hyperimmunoglobulin Syndrome

MalaCards organs/tissues related to Hyperimmunoglobulin Syndrome:

42
B Cells

Publications for Hyperimmunoglobulin Syndrome

Articles related to Hyperimmunoglobulin Syndrome:

# Title Authors Year
1
Hyperimmunoglobulin syndrome due to CD40 deficiency: possibly the first case from India. ( 25511220 )
2015

Variations for Hyperimmunoglobulin Syndrome

Expression for Hyperimmunoglobulin Syndrome

Search GEO for disease gene expression data for Hyperimmunoglobulin Syndrome.

Pathways for Hyperimmunoglobulin Syndrome

Pathways related to Hyperimmunoglobulin Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 AICDA CD40 CD40LG ICOSLG
2
Show member pathways
12.35 CD40 CD40LG ICOSLG
3 12.14 AICDA CD40LG STAT3 TYK2
4
Show member pathways
12.08 CD40 CD40LG ICOSLG
5 11.7 CD40 CD40LG ICOSLG
6
Show member pathways
11.53 CD40 CD40LG STAT3 TYK2
7 11.41 AICDA CD40LG
8
Show member pathways
11.37 STAT3 TYK2
9 11.34 STAT3 TYK2
10 11.29 STAT3 TYK2
11 11.27 STAT3 TYK2
12 11.27 CD40 CD40LG
13 11.21 STAT3 TYK2
14 11.2 CD40 CD40LG ICOSLG
15 11.16 STAT3 TYK2
16
Show member pathways
11.14 STAT3 TYK2
17 11.08 STAT3 TYK2
18 11.06 CD40 CD40LG STAT3
19 11.03 CD40 CD40LG
20 11 CD40 CD40LG
21 10.95 CD40 CD40LG
22
Show member pathways
10.92 STAT3 TYK2
23 10.68 STAT3 TYK2
24 10.49 AICDA CD40 CD40LG UNG

GO Terms for Hyperimmunoglobulin Syndrome

Cellular components related to Hyperimmunoglobulin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.8 CD40 CD40LG ICOSLG

Biological processes related to Hyperimmunoglobulin Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.69 CD40 CD40LG STAT3
2 regulation of immune response GO:0050776 9.63 CD40 CD40LG ICOSLG
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 CD40 STAT3
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.52 CD40 CD40LG
5 T cell costimulation GO:0031295 9.49 CD40LG ICOSLG
6 B cell proliferation GO:0042100 9.48 CD40 CD40LG
7 B cell activation GO:0042113 9.43 CD40 ICOSLG
8 positive regulation of interleukin-12 production GO:0032735 9.4 CD40 CD40LG
9 positive regulation of endothelial cell apoptotic process GO:2000353 9.37 CD40 CD40LG
10 somatic hypermutation of immunoglobulin genes GO:0016446 9.32 AICDA UNG
11 isotype switching GO:0045190 9.26 AICDA CD40LG
12 interleukin-27-mediated signaling pathway GO:0070106 9.16 STAT3 TYK2
13 interleukin-23-mediated signaling pathway GO:0038155 8.96 STAT3 TYK2
14 regulation of immunoglobulin secretion GO:0051023 8.62 CD40 CD40LG

Sources for Hyperimmunoglobulin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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