MCID: CNG020
MIFTS: 32

Congenital Hypogammaglobulinemia

Categories: Blood diseases, Immune 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
UMLS 73 C1457897

Summaries for Congenital Hypogammaglobulinemia

MalaCards based summary : Congenital Hypogammaglobulinemia, also known as congenital hypogammaglobulinaemia, is related to agammaglobulinemia and waldenstroem's macroglobulinemia. 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 IL-2 Pathway. Affiliated tissues include lung, skin and bone, and related phenotypes are Increased gamma-H2AX phosphorylation and hematopoietic 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 53)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 29.1 BLNK BTK CD19 CD79A IGLL1
2 waldenstroem's macroglobulinemia 10.1 BTK CD19
3 plasma protein metabolism disease 10.1 BTK CD19
4 amebiasis 10.1 CD79A IGLL1
5 immunoglobulin a deficiency 1 10.1 BTK CD79A
6 poliomyelitis 10.1 BTK IL4
7 selective igg deficiency disease 10.1 CD19 CD79A
8 bladder lymphoma 10.1 CD19 CD79A
9 colon lymphoma 10.1 CD19 CD79A
10 solitary osseous plasmacytoma 10.1 CD19 CD79A
11 small intestine lymphoma 10.1 CD19 CD79A
12 plasma cell neoplasm 10.0 CD19 CD79A
13 lymphatic system cancer 10.0 CD19 CD79A
14 vulvovaginal candidiasis 10.0 CD79A IL4
15 orofacial granulomatosis 10.0 CD79A IL4
16 mature b-cell neoplasm 10.0 CD19 CD79A
17 lymphoma, hodgkin, classic 10.0 CD19 CD79A
18 milk allergy 10.0 CD79A IL4
19 proliferative glomerulonephritis 10.0 CD79A IL4
20 b cell deficiency 10.0 BTK CD19 IGLL1
21 ocular cicatricial pemphigoid 10.0 CD79A IL4
22 autoimmune disease of musculoskeletal system 10.0 CD19 IL4
23 rheumatic myocarditis 10.0 CD19 IL1A
24 lymphoma, mucosa-associated lymphoid type 10.0 CD19 CD79A
25 transient hypogammaglobulinemia of infancy 10.0 BTK CD19 IL4
26 immune system disease 9.9 BTK CD19 IL4
27 chronic graft versus host disease 9.9 CD79A IL1A
28 sebaceous gland disease 9.9 CD79A IL1A
29 immunodeficiency with hyper-igm, type 1 9.9 BTK CD79A IL4
30 cryptosporidiosis 9.9 CD79A IL1A
31 agammaglobulinemia, x-linked 9.9 BTK CD79A IL4
32 toxoplasmosis 9.9 CD79A IL4
33 somatoform disorder 9.9 IL1A IL4
34 leukocyte disease 9.9 CD19 CD79A IL4
35 bronchiectasis 9.9
36 otitis media 9.9 CD79A IL4
37 aggressive periodontitis 9.9 IL1A IL4
38 gingivitis 9.9 IL1A IL4
39 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.8 BTK IL4
40 contact dermatitis 9.8 IL1A IL4
41 agammaglobulinemia, non-bruton type 9.8 BLNK BTK CD79A IGLL1
42 bone inflammation disease 9.8 IL1A IL4
43 lung lymphoma 9.8 CD19 CD79A IL1A
44 keratoconjunctivitis sicca 9.8 CD79A IL1A IL4
45 common variable immunodeficiency 9.8 BTK CD19 CD79A IL4
46 pneumocystosis 9.8
47 pneumonia 9.8
48 encephalitis 9.8
49 tonsillitis 9.8 CD79A IL1A IL4
50 chlamydia 9.8 CD79A IL1A IL4

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



Diseases related to Congenital Hypogammaglobulinemia

Symptoms & Phenotypes for Congenital Hypogammaglobulinemia

GenomeRNAi Phenotypes related to Congenital Hypogammaglobulinemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.02 BLNK BTK CD19 CD79A IGLL1

MGI Mouse Phenotypes related to Congenital Hypogammaglobulinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.63 BLNK BTK CD19 CD79A IL1A IL4
2 immune system MP:0005387 9.43 BLNK BTK CD19 CD79A IL1A IL4
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

MalaCards organs/tissues related to Congenital Hypogammaglobulinemia:

41
Lung, Skin, Bone, Colon, Tonsil, B Cells, Small Intestine

Publications for Congenital Hypogammaglobulinemia

Articles related to Congenital Hypogammaglobulinemia:

(show all 16)
# Title Authors Year
1
Livedo reticularis and congenital hypogammaglobulinemia. ( 1573343 )
1992
2
Failure of intraventricular gammaglobulin and alpha interferon for persistent encephalitis in congenital hypogammaglobulinaemia. ( 2843137 )
1988
3
Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia. ( 314502 )
1979
4
Cryptosporidial enteritis in a patient with congenital hypogammaglobulinemia. ( 369983 )
1979
5
Subacute encephalitis and congenital hypogammaglobulinemia. ( 5015595 )
1972
6
Congenital hypogammaglobulinemia preceding Hodgkin's disease: a case report and review of the literature. ( 5410149 )
1970
7
Immunoglobulins in congenital hypogammaglobulinemia. ( 4173717 )
1968
8
Paternal immunoglobulin abnormalities in congenital hypogammaglobulinemia. ( 4164115 )
1967
9
The Xg blood groups and congenital hypogammaglobulinemia. ( 5860323 )
1965
10
CONGENITAL HYPOGAMMAGLOBULINEMIA. ( 14219508 )
1965
11
SUCCESSFUL TREATMENT OF PNEUMOCYSTIS CARINII PNEUMONITIS IN A PATIENT WITH CONGENITAL HYPOGAMMAGLOBULINEMIA. ( 14261461 )
1965
12
CONGENITAL HYPOGAMMAGLOBULINAEMIA WITH STEATORRHOEA IN TWO ADULT BROTHERS. ( 14161990 )
1964
13
PNEUMOCYSTIS CARINII PNEUMONIA AND CONGENITAL HYPOGAMMAGLOBULINAEMIA. ( 14162935 )
1964
14
B.C.G. dissemination in congenital hypogammaglobulinaemia. ( 14014537 )
1963
15
Congenital Hypogammaglobulinaemia and Megaloblastic Anaemia Presenting as a Case of Bronchiectasis. ( 19994175 )
1962
16
Congenital Hypogammaglobulinæmia and Megaloblastic Anæmia Presenting as a Case of Bronchiectasis. ( 20918572 )
1962

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 BLNK BTK CD19 CD79A IL1A IL4
2
Show member pathways
12.79 BLNK BTK CD19 CD79A IL1A IL4
3
Show member pathways
12.42 BLNK BTK CD19 CD79A
4
Show member pathways
12.29 BLNK BTK CD79A IL4
5
Show member pathways
12.19 BLNK BTK CD19 CD79A IL4
6
Show member pathways
12.04 BLNK BTK CD19 CD79A
7 12.02 BLNK BTK CD19
8 11.87 BLNK BTK CD19 CD79A IL4
9
Show member pathways
11.8 BLNK BTK CD79A
10 11.78 BLNK BTK IL1A
11
Show member pathways
11.76 BTK IL1A IL4
12 11.7 CD19 CD79A IL4
13 11.57 CD19 IL1A IL4
14
Show member pathways
11.48 BLNK BTK CD19 CD79A
15 11.25 IL1A IL4
16 11.01 IL1A IL4
17 10.93 BTK IL1A IL4
18 10.59 BLNK BTK CD19 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 8.8 CD19 CD79A IGLL1

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

# Name GO ID Score Top Affiliating Genes
1 B cell differentiation GO:0030183 9.33 BLNK CD79A IL4
2 B cell receptor signaling pathway GO:0050853 9.26 BTK CD19 CD79A IGLL1
3 B cell activation GO:0042113 8.92 BLNK BTK CD79A 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
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