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 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2959
NCIt 50 C27579
UMLS 73 C1334069

Summaries for Hyperimmunoglobulin Syndrome

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 NF-kappaB Signaling and Epstein-Barr virus infection. Affiliated tissues include b cells, and related phenotypes are hematopoietic system and cellular

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 25)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 4 31.3 AICDA CD40 CD40LG UNG
2 immunodeficiency with hyper-igm, type 2 31.0 AICDA CD40 CD40LG KMT5B UNG
3 immunodeficiency with hyper-igm, type 5 11.1
4 light fixation seizure syndrome 10.1 CD40 CD40LG
5 sulfamethoxazole allergy 10.1 CD40 CD40LG
6 immunodeficiency 17 10.1 CD40LG DOCK8
7 exanthema subitum 10.1 CD40 CD40LG
8 suppurative lymphadenitis 10.1 DOCK8 STAT3
9 congenital rubella 10.0 CD40LG UNG
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 10.0 AICDA CD40 CD40LG
14 burkitt lymphoma 10.0 AICDA CD40 CD40LG
15 toxoplasmosis 9.9 CD40 CD40LG
16 transient hypogammaglobulinemia of infancy 9.9 CD40 CD40LG UNG
17 mixed lacrimal gland cancer 9.9 STAT3 TYK2
18 autoimmune disease 9.9 CD40 CD40LG STAT3
19 immunodeficiency with hyper-igm, type 3 9.9 AICDA CD40 CD40LG DOCK8
20 b cell deficiency 9.9 AICDA CD40 CD40LG STAT3
21 leukemia, chronic lymphocytic 9.8 AICDA CD40 CD40LG STAT3
22 cd40 ligand deficiency 9.8 AICDA CD40 CD40LG UNG
23 immunodeficiency with hyper-igm, type 1 9.8 AICDA CD40 CD40LG UNG
24 hyper-ige recurrent infection syndrome, autosomal dominant 9.6 DOCK8 PGM3 STAT3 TYK2
25 hyper ige syndrome 9.6 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 AICDA CD40 CD40LG DOCK8 KMT5B PGM3
2 cellular MP:0005384 9.8 AICDA CD40LG DOCK8 KMT5B STAT3 TYK2
3 immune system MP:0005387 9.61 AICDA CD40 CD40LG DOCK8 KMT5B PGM3
4 mortality/aging MP:0010768 9.17 AICDA CD40LG KMT5B PGM3 STAT3 TYK2

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:

41
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 21)
# Super pathways Score Top Affiliating Genes
1 12.07 AICDA CD40LG STAT3 TYK2
2 11.85 CD40 STAT3 TYK2
3
Show member pathways
11.53 CD40 CD40LG STAT3 TYK2
4 11.4 AICDA CD40LG
5
Show member pathways
11.35 STAT3 TYK2
6 11.35 CD40 CD40LG
7 11.32 STAT3 TYK2
8 11.27 STAT3 TYK2
9 11.25 STAT3 TYK2
10 11.24 CD40 CD40LG
11 11.18 STAT3 TYK2
12 11.13 STAT3 TYK2
13
Show member pathways
11.1 STAT3 TYK2
14 11.06 CD40 CD40LG STAT3
15 11.04 STAT3 TYK2
16 11 CD40 CD40LG
17 10.96 CD40 CD40LG
18 10.91 CD40 CD40LG
19
Show member pathways
10.87 STAT3 TYK2
20 10.6 STAT3 TYK2
21 10.49 AICDA CD40 CD40LG UNG

GO Terms for Hyperimmunoglobulin Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.63 CD40 CD40LG STAT3
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.49 CD40 STAT3
3 tumor necrosis factor-mediated signaling pathway GO:0033209 9.48 CD40 CD40LG
4 B cell proliferation GO:0042100 9.43 CD40 CD40LG
5 positive regulation of interleukin-12 production GO:0032735 9.4 CD40 CD40LG
6 positive regulation of endothelial cell apoptotic process GO:2000353 9.37 CD40 CD40LG
7 somatic hypermutation of immunoglobulin genes GO:0016446 9.32 AICDA UNG
8 isotype switching GO:0045190 9.26 AICDA CD40LG
9 interleukin-27-mediated signaling pathway GO:0070106 9.16 STAT3 TYK2
10 interleukin-23-mediated signaling pathway GO:0038155 8.96 STAT3 TYK2
11 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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