MCID: CNG020
MIFTS: 33

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 74
Congenital Hypogammaglobulinaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14177
ICD9CM 36 279.04
UMLS 74 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 Class I MHC mediated antigen processing and presentation. Affiliated tissues include b cells, lung and skin, and 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 72)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 30.0 BLNK BTK CD19 CD79A IGLL1
2 waldenstroem's macroglobulinemia 10.3 BTK CD19
3 plasma protein metabolism disease 10.3 BTK CD19
4 amebiasis 10.3 CD79A IGLL1
5 selective igg deficiency disease 10.3 CD19 CD79A
6 bladder lymphoma 10.2 CD19 CD79A
7 colon lymphoma 10.2 CD19 CD79A
8 solitary osseous plasmacytoma 10.2 CD19 CD79A
9 small intestine lymphoma 10.2 CD19 CD79A
10 macroglobulinemia 10.2 BTK CD40LG
11 c1q nephropathy 10.2 CD40LG CD79A
12 lymphatic system cancer 10.2 CD19 CD79A
13 immunoglobulin g deficiency 10.2 CD40LG CD79A
14 cryofibrinogenemia 10.2 CD40LG CD79A
15 heparin-induced thrombocytopenia 10.2 CD40LG CD79A
16 sporotrichosis 10.2 CD40LG CD79A
17 congenital syphilis 10.2 CD40LG CD79A
18 syphilis 10.2 CD40LG CD79A
19 secondary syphilis 10.2 CD40LG CD79A
20 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.2 CD40LG CD79A
21 ocular toxoplasmosis 10.2 CD40LG CD79A
22 persistent generalized lymphadenopathy 10.1 CD40LG CD79A
23 congenital toxoplasmosis 10.1 CD40LG CD79A
24 mature b-cell neoplasm 10.1 CD19 CD79A
25 immunoglobulin alpha deficiency 10.1 CD40LG CD79A
26 rheumatic myocarditis 10.1 CD19 IL1A
27 pustulosis palmaris et plantaris 10.1 CD40LG CD79A
28 chronic graft versus host disease 10.1 CD79A IL1A
29 dysgerminoma of ovary 10.1 CD40LG CD79A
30 waldenstrom macroglobulinemia 10.1 BTK CD40LG
31 sebaceous gland disease 10.1 CD79A IL1A
32 marginal zone b-cell lymphoma 10.1 CD40LG CD79A
33 lymphoma, hodgkin, classic 10.0 CD19 CD79A
34 meningoencephalitis 10.0 CD40LG CD79A
35 immunoglobulin a deficiency 1 10.0 BTK CD40LG CD79A
36 agammaglobulinemia, x-linked 10.0 BTK CD40LG CD79A
37 poliomyelitis 10.0 BTK IL4
38 cryoglobulinemia 10.0 CD40LG CD79A
39 vulvovaginal candidiasis 9.9 CD79A IL4
40 orofacial granulomatosis 9.9 CD79A IL4
41 idiopathic neutropenia 9.9 CD40LG IL1A
42 agammaglobulinemia, non-bruton type 9.9 BLNK BTK CD79A IGLL1
43 milk allergy 9.9 CD79A IL4
44 sulfamethoxazole allergy 9.9 CD40LG IL4
45 lung lymphoma 9.9 CD19 CD79A IL1A
46 proliferative glomerulonephritis 9.9 CD79A IL4
47 ocular cicatricial pemphigoid 9.9 CD79A IL4
48 buruli ulcer 9.9 CD40LG IL4
49 bronchiectasis 9.9
50 b cell deficiency 9.8 BTK CD19 CD40LG IGLL1

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:

47
# 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

MalaCards organs/tissues related to Congenital Hypogammaglobulinemia:

42
B Cells, Lung, Skin, Colon, Ovary, Tonsil, Small Intestine

Publications for Congenital Hypogammaglobulinemia

Articles related to Congenital Hypogammaglobulinemia:

(show all 17)
# 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
Functional studies on lymphocytes from two siblings with congenital hypogammaglobulinaemia. ( 6340179 )
1983
4
Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia. ( 314502 )
1979
5
Cryptosporidial enteritis in a patient with congenital hypogammaglobulinemia. ( 369983 )
1979
6
Subacute encephalitis and congenital hypogammaglobulinemia. ( 5015595 )
1972
7
Congenital hypogammaglobulinemia preceding Hodgkin's disease: a case report and review of the literature. ( 5410149 )
1970
8
Immunoglobulins in congenital hypogammaglobulinemia. ( 4173717 )
1968
9
Paternal immunoglobulin abnormalities in congenital hypogammaglobulinemia. ( 4164115 )
1967
10
The Xg blood groups and congenital hypogammaglobulinemia. ( 5860323 )
1965
11
CONGENITAL HYPOGAMMAGLOBULINEMIA. ( 14219508 )
1965
12
SUCCESSFUL TREATMENT OF PNEUMOCYSTIS CARINII PNEUMONITIS IN A PATIENT WITH CONGENITAL HYPOGAMMAGLOBULINEMIA. ( 14261461 )
1965
13
PNEUMOCYSTIS CARINII PNEUMONIA AND CONGENITAL HYPOGAMMAGLOBULINAEMIA. ( 14162935 )
1964
14
CONGENITAL HYPOGAMMAGLOBULINAEMIA WITH STEATORRHOEA IN TWO ADULT BROTHERS. ( 14161990 )
1964
15
B.C.G. dissemination in congenital hypogammaglobulinaemia. ( 14014537 )
1963
16
Congenital Hypogammaglobulinaemia and Megaloblastic Anaemia Presenting as a Case of Bronchiectasis. ( 19994175 )
1962
17
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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 BLNK BTK CD19 CD40LG CD79A IL1A
2
Show member pathways
13.18 BLNK BTK CD19 CD40LG CD79A
3
Show member pathways
12.87 BLNK BTK CD19 CD79A IL1A IL4
4
Show member pathways
12.48 BLNK BTK CD19 CD79A
5
Show member pathways
12.31 CD40LG IL1A IL4
6
Show member pathways
12.28 BLNK BTK CD40LG CD79A IL4
7
Show member pathways
12.19 BLNK BTK CD19 CD79A IL4
8
Show member pathways
12.11 BLNK BTK CD19 CD79A
9
Show member pathways
12.01 CD40LG IL1A IL4
10 11.95 BLNK BTK CD19 CD40LG CD79A IL4
11
Show member pathways
11.81 BLNK BTK CD79A
12 11.79 BLNK BTK IL1A
13 11.74 CD19 CD79A IL4
14 11.64 CD19 IL1A IL4
15 11.63 BLNK BTK CD40LG
16
Show member pathways
11.48 BLNK BTK CD19 CD79A
17 11.34 CD19 CD40LG
18 11.3 IL1A IL4
19 11.1 CD40LG IL4
20 11.05 CD40LG IL4
21 11.03 IL1A IL4
22 10.9 BTK CD40LG IL1A IL4
23 10.75 BTK CD40LG IL1A IL4
24 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 9.02 CD19 CD40LG CD79A IGHV4-38-2 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 differentiation GO:0030183 9.46 BLNK CD40LG CD79A IL4
4 B cell proliferation GO:0042100 9.37 CD40LG CD79A
5 B cell receptor signaling pathway GO:0050853 9.35 BTK CD19 CD79A IGHV4-38-2 IGLL1
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 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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