MCID: CNG020
MIFTS: 31

Congenital Hypogammaglobulinemia

Categories: Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Congenital Hypogammaglobulinemia

MalaCards integrated aliases for Congenital Hypogammaglobulinemia:

Name: Congenital Hypogammaglobulinemia 12 15 73
Congenital Hypogammaglobulinaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14177
ICD9CM 35 279.04
SNOMED-CT 68 190983003 267460002
UMLS 73 C1457897

Summaries for Congenital Hypogammaglobulinemia

MalaCards based summary : Congenital Hypogammaglobulinemia, also known as congenital hypogammaglobulinaemia, is related to bird fancier's lung and amebiasis. An important gene associated with Congenital Hypogammaglobulinemia is IGLL1 (Immunoglobulin Lambda Like Polypeptide 1), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Related phenotypes are hematopoietic system and immune system

Related Diseases for Congenital Hypogammaglobulinemia

Diseases in the Transient Hypogammaglobulinemia family:

Congenital Hypogammaglobulinemia Transient Hypogammaglobulinemia of Infancy

Diseases related to Congenital Hypogammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 189)
# Related Disease Score Top Affiliating Genes
1 bird fancier's lung 10.7 CD79A IGLL1
2 amebiasis 10.6 CD79A IGLL1
3 rhinoscleroma 10.5 CD19 CD79A
4 encephalitozoonosis 10.5 CD19 CD40LG
5 poliomyelitis 10.5 BTK IL4
6 selective igg deficiency disease 10.4 CD40LG CD79A
7 c1q nephropathy 10.4 CD40LG CD79A
8 meningovascular neurosyphilis 10.4 CD40LG CD79A
9 alpha chain disease 10.4 CD40LG CD79A
10 brill-zinsser disease 10.4 CD40LG CD79A
11 exudative glomerulonephritis 10.4 CD40LG CD79A
12 cork-handlers' disease 10.4 CD40LG CD79A
13 salpingo-oophoritis 10.4 CD40LG CD79A
14 early yaws 10.4 CD40LG CD79A
15 chronic interstitial cystitis 10.4 CD40LG CD79A
16 small intestine lymphoma 10.4 CD19 CD79A
17 axillary adenitis 10.4 CD40LG CD79A
18 cryofibrinogenemia 10.4 CD40LG CD79A
19 trichostrongyloidiasis 10.4 CD40LG CD79A
20 subacute bacterial endocarditis 10.4 CD40LG CD79A
21 anterior scleritis 10.4 CD19 CD79A
22 heterophyiasis 10.4 CD40LG CD79A
23 immunoglobulin g deficiency 10.4 CD40LG CD79A
24 orbital granuloma 10.4 CD40LG CD79A
25 hyperglobulinemic purpura 10.4 CD40LG CD79A
26 gastroduodenitis 10.4 CD40LG CD79A
27 bacterial conjunctivitis 10.4 CD40LG CD79A
28 heavy chain disease 10.4 CD40LG CD79A
29 ophthalmia neonatorum 10.4 CD40LG CD79A
30 parotid disease 10.4 CD40LG CD79A
31 cerebral arteritis 10.4 CD40LG CD79A
32 selective immunoglobulin deficiency disease 10.4 CD40LG CD79A
33 geniculate herpes zoster 10.4 CD40LG CD79A
34 erythema elevatum diutinum 10.4 CD40LG CD79A
35 sporotrichosis 10.4 CD40LG CD79A
36 fallopian tube disease 10.4 CD40LG CD79A
37 hyperimmunoglobulin syndrome 10.4 CD40LG CD79A
38 congenital syphilis 10.4 CD40LG CD79A
39 polyclonal hypergammaglobulinemia 10.4 CD40LG CD79A
40 monoclonal paraproteinemia 10.4 CD40LG CD79A
41 salpingitis 10.4 CD40LG CD79A
42 ocular toxoplasmosis 10.4 CD40LG CD79A
43 dysgammaglobulinemia 10.4 CD40LG CD79A
44 acute maxillary sinusitis 10.4 CD40LG CD79A
45 chronic polyneuropathy 10.4 CD40LG CD79A
46 spinocerebellar ataxia, autosomal recessive 10 10.4 CD40LG CD79A
47 cd40 ligand deficiency 10.4 CD40LG CD79A
48 secondary syphilis 10.4 CD40LG CD79A
49 yellow nail syndrome 10.4 CD40LG CD79A
50 congenital toxoplasmosis 10.4 CD40LG CD79A

Graphical network of the top 20 diseases related to Congenital Hypogammaglobulinemia:



Diseases related to Congenital Hypogammaglobulinemia

Symptoms & Phenotypes for Congenital Hypogammaglobulinemia

MGI Mouse Phenotypes related to Congenital Hypogammaglobulinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 BLNK BTK CD19 CD40LG CD79A IL1A
2 immune system MP:0005387 9.5 BLNK BTK CD19 CD40LG CD79A IL1A
3 neoplasm MP:0002006 9.02 BLNK BTK CD19 CD79A IL1A

Drugs & Therapeutics for Congenital Hypogammaglobulinemia

Search Clinical Trials , NIH Clinical Center for Congenital Hypogammaglobulinemia

Genetic Tests for Congenital Hypogammaglobulinemia

Anatomical Context for Congenital Hypogammaglobulinemia

Publications for Congenital Hypogammaglobulinemia

Articles related to Congenital Hypogammaglobulinemia:

# Title Authors Year
1
Livedo reticularis and congenital hypogammaglobulinemia. ( 1573343 )
1992
2
Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia. ( 314502 )
1979
3
Cryptosporidial enteritis in a patient with congenital hypogammaglobulinemia. ( 369983 )
1979
4
Subacute encephalitis and congenital hypogammaglobulinemia. ( 5015595 )
1972
5
Congenital hypogammaglobulinemia preceding Hodgkin's disease: a case report and review of the literature. ( 5410149 )
1970
6
Immunoglobulins in congenital hypogammaglobulinemia. ( 4173717 )
1968
7
Paternal immunoglobulin abnormalities in congenital hypogammaglobulinemia. ( 4164115 )
1967
8
The Xg blood groups and congenital hypogammaglobulinemia. ( 5860323 )
1965
9
CONGENITAL HYPOGAMMAGLOBULINEMIA. ( 14219508 )
1965
10
SUCCESSFUL TREATMENT OF PNEUMOCYSTIS CARINII PNEUMONITIS IN A PATIENT WITH CONGENITAL HYPOGAMMAGLOBULINEMIA. ( 14261461 )
1965

Variations for Congenital Hypogammaglobulinemia

Expression for Congenital Hypogammaglobulinemia

Search GEO for disease gene expression data for Congenital Hypogammaglobulinemia.

Pathways for Congenital Hypogammaglobulinemia

Pathways related to Congenital Hypogammaglobulinemia according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 BLNK BTK CD19 CD40LG CD79A IL1A
2
Show member pathways
13.15 BLNK BTK CD19 CD40LG CD79A
3
Show member pathways
12.42 BLNK BTK CD19 CD79A
4
Show member pathways
12.33 BLNK BTK CD79A
5
Show member pathways
12.31 BLNK BTK CD19 CD79A IL1A IL4
6
Show member pathways
12.25 BLNK BTK CD19 CD79A IL4
7
Show member pathways
12.17 CD40LG IL1A IL4
8
Show member pathways
12.04 BLNK BTK CD19 CD79A
9
Show member pathways
11.97 CD40LG IL1A IL4
10 11.95 BLNK BTK CD19 CD40LG CD79A IL4
11
Show member pathways
11.8 BLNK BTK CD79A
12 11.78 BLNK BTK IL1A
13 11.7 CD19 CD79A IL4
14 11.6 CD19 IL1A IL4
15
Show member pathways
11.58 BLNK BTK CD19 CD79A
16 11.56 BLNK BTK CD40LG
17 11.29 IL1A IL4
18 11.08 CD40LG IL4
19 11.02 CD40LG IL4
20 11.01 IL1A IL4
21 10.67 BLNK BTK CD19 CD40LG CD79A IGLL1

GO Terms for Congenital Hypogammaglobulinemia

Cellular components related to Congenital Hypogammaglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.92 CD19 CD40LG CD79A IGLL1

Biological processes related to Congenital Hypogammaglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.56 CD40LG IGLL1 IL1A IL4
2 regulation of immune response GO:0050776 9.5 CD19 CD40LG IL4
3 B cell receptor signaling pathway GO:0050853 9.46 BTK CD19 CD79A IGLL1
4 B cell proliferation GO:0042100 9.37 CD40LG CD79A
5 B cell differentiation GO:0030183 9.26 BLNK CD40LG CD79A IL4
6 B cell activation GO:0042113 8.92 BLNK BTK CD79A IL4

Molecular functions related to Congenital Hypogammaglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 CD40LG IL1A IL4

Sources for Congenital Hypogammaglobulinemia

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
Content
Loading form....