MCID: HYP067
MIFTS: 25

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 AICDA (Activation Induced Cytidine Deaminase), and among its related pathways/superpathways are NF-kappaB Signaling and Epstein-Barr virus infection. Related phenotypes are cellular and hematopoietic 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 top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 4 30.3 AICDA CD40 CD40LG UNG
2 immunodeficiency with hyper-igm, type 2 29.2 AICDA CD40 CD40LG CD79A UNG
3 immunodeficiency with hyper-igm, type 5 10.9
4 light fixation seizure syndrome 10.7 CD40 CD40LG
5 exanthema subitum 10.5 CD40 CD40LG
6 waldenstrom macroglobulinemia 10.5 CD40 CD40LG
7 immunodeficiency 17 10.5 CD40LG DOCK8
8 mixed lacrimal gland cancer 10.4 STAT3 TYK2
9 selective igg deficiency disease 10.4 CD40LG CD79A
10 c1q nephropathy 10.4 CD40LG CD79A
11 meningovascular neurosyphilis 10.4 CD40LG CD79A
12 alpha chain disease 10.4 CD40LG CD79A
13 brill-zinsser disease 10.4 CD40LG CD79A
14 exudative glomerulonephritis 10.4 CD40LG CD79A
15 cork-handlers' disease 10.4 CD40LG CD79A
16 salpingo-oophoritis 10.4 CD40LG CD79A
17 early yaws 10.4 CD40LG CD79A
18 ventilation pneumonitis 10.4 CD40LG CD79A
19 chronic interstitial cystitis 10.4 CD40LG CD79A
20 axillary adenitis 10.4 CD40LG CD79A
21 cryofibrinogenemia 10.4 CD40LG CD79A
22 trichostrongyloidiasis 10.4 CD40LG CD79A
23 subacute bacterial endocarditis 10.4 CD40LG CD79A
24 heterophyiasis 10.4 CD40LG CD79A
25 immunoglobulin g deficiency 10.4 CD40LG CD79A
26 orbital granuloma 10.4 CD40LG CD79A
27 transient hypogammaglobulinemia of infancy 10.4 CD40LG CD79A
28 hyperglobulinemic purpura 10.4 CD40LG CD79A
29 suppurative lymphadenitis 10.4 DOCK8 STAT3
30 gastroduodenitis 10.4 CD40LG CD79A
31 bacterial conjunctivitis 10.4 CD40LG CD79A
32 heavy chain disease 10.4 CD40LG CD79A
33 ophthalmia neonatorum 10.4 CD40LG CD79A
34 immunoglobulin a deficiency 1 10.4 CD40LG CD79A
35 parotid disease 10.4 CD40LG CD79A
36 cerebral arteritis 10.4 CD40LG CD79A
37 selective immunoglobulin deficiency disease 10.4 CD40LG CD79A
38 geniculate herpes zoster 10.4 CD40LG CD79A
39 erythema elevatum diutinum 10.4 CD40LG CD79A
40 sporotrichosis 10.4 CD40LG CD79A
41 fallopian tube disease 10.4 CD40LG CD79A
42 congenital syphilis 10.4 CD40LG CD79A
43 polyclonal hypergammaglobulinemia 10.4 CD40LG CD79A
44 monoclonal paraproteinemia 10.4 CD40LG CD79A
45 salpingitis 10.4 CD40LG CD79A
46 ocular toxoplasmosis 10.4 CD40LG CD79A
47 dysgammaglobulinemia 10.4 CD40LG CD79A
48 congenital hypogammaglobulinemia 10.4 CD40LG CD79A
49 acute maxillary sinusitis 10.4 CD40LG CD79A
50 chronic polyneuropathy 10.4 CD40LG CD79A

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 cellular MP:0005384 9.8 TYK2 UNG AICDA CD40LG CD79A DOCK8
2 hematopoietic system MP:0005397 9.76 UNG AICDA CD40 CD40LG CD79A DOCK8
3 immune system MP:0005387 9.56 UNG AICDA CD40 CD40LG CD79A DOCK8
4 normal MP:0002873 9.02 UNG AICDA CD40 CD79A 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

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

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 CD79A

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

# Name GO ID Score Top Affiliating Genes
1 B cell activation GO:0042113 9.48 CD40 CD79A
2 positive regulation of interleukin-12 production GO:0032735 9.46 CD40 CD40LG
3 positive regulation of endothelial cell apoptotic process GO:2000353 9.43 CD40 CD40LG
4 somatic hypermutation of immunoglobulin genes GO:0016446 9.4 AICDA UNG
5 isotype switching GO:0045190 9.37 AICDA CD40LG
6 B cell differentiation GO:0030183 9.33 AICDA CD40LG CD79A
7 interleukin-27-mediated signaling pathway GO:0070106 9.32 STAT3 TYK2
8 interleukin-23-mediated signaling pathway GO:0038155 9.26 STAT3 TYK2
9 regulation of immunoglobulin secretion GO:0051023 8.96 CD40 CD40LG
10 B cell proliferation GO:0042100 8.8 CD40 CD40LG CD79A

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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