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MCID: CNG020
MIFTS: 30

Congenital Hypogammaglobulinemia

Categories: Blood diseases, Immune diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Congenital Hypogammaglobulinemia

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MalaCards integrated aliases for Congenital Hypogammaglobulinemia:

Name: Congenital Hypogammaglobulinemia 12 15 72
Congenital Hypogammaglobulinaemia 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:14177
ICD9CM 35 279.04
UMLS 72 C1457897
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Summaries for Congenital Hypogammaglobulinemia

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MalaCards based summary : Congenital Hypogammaglobulinemia, also known as congenital hypogammaglobulinaemia, is related to agammaglobulinemia and meningoencephalitis. 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 liver and b cells, and related phenotypes are hematopoietic system and immune system

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Related Diseases for Congenital Hypogammaglobulinemia

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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 62)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 30.0 IGLL1 CD79A CD19 BTK BLNK
2 meningoencephalitis 29.9 CD79A CD40LG
3 agammaglobulinemia, x-linked 29.7 CD79A CD40LG BTK
4 common variable immunodeficiency 29.3 CD79A CD40LG CD19 BTK
5 cryptosporidiosis 29.3 IL1A CD79A CD40LG
6 waldenstroem's macroglobulinemia 10.4 CD19 BTK
7 plasma protein metabolism disease 10.4 CD19 BTK
8 amebiasis 10.4 IGLL1 CD79A
9 selective igg deficiency disease 10.4 CD79A CD19
10 bladder lymphoma 10.4 CD79A CD19
11 macroglobulinemia 10.4 CD40LG BTK
12 colon lymphoma 10.3 CD79A CD19
13 solitary osseous plasmacytoma 10.3 CD79A CD19
14 c1q nephropathy 10.3 CD79A CD40LG
15 immunoglobulin g deficiency 10.3 CD79A CD40LG
16 cryofibrinogenemia 10.3 CD79A CD40LG
17 heparin-induced thrombocytopenia 10.3 CD79A CD40LG
18 congenital syphilis 10.3 CD79A CD40LG
19 syphilis 10.3 CD79A CD40LG
20 sporotrichosis 10.3 CD79A CD40LG
21 secondary syphilis 10.3 CD79A CD40LG
22 small intestine lymphoma 10.3 CD79A CD19
23 ocular toxoplasmosis 10.3 CD79A CD40LG
24 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3 CD79A CD40LG
25 persistent generalized lymphadenopathy 10.3 CD79A CD40LG
26 lymphatic system cancer 10.2 CD79A CD19
27 congenital toxoplasmosis 10.2 CD79A CD40LG
28 immunoglobulin alpha deficiency 10.2 CD79A CD40LG
29 pustulosis palmaris et plantaris 10.2 CD79A CD40LG
30 mature b-cell neoplasm 10.2 CD79A CD19
31 dysgerminoma of ovary 10.2 CD79A CD40LG
32 rheumatic myocarditis 10.2 IL1A CD19
33 marginal zone b-cell lymphoma 10.1 CD79A CD40LG
34 ventilation pneumonitis 10.1 IGLL1 CD4
35 sebaceous gland disease 10.1 IL1A CD79A
36 transient hypogammaglobulinemia of infancy 10.1 CD40LG CD19 BTK
37 lymphoma, hodgkin, classic 10.1 CD79A CD19
38 immunoglobulin a deficiency 1 10.0 CD79A CD40LG BTK
39 immunodeficiency with hyper-igm, type 1 10.0 CD79A CD40LG BTK
40 cryoglobulinemia 10.0 CD79A CD40LG
41 keratoconjunctivitis sicca 10.0 IL1A CD79A
42 idiopathic neutropenia 9.9 IL1A CD40LG
43 vaccinia 9.9
44 lymphopenia 9.9
45 encephalitis 9.9
46 ecthyma 9.9 CD4 BTK
47 agammaglobulinemia, non-bruton type 9.9 IGLL1 CD79A BTK BLNK
48 bronchiectasis 9.9
49 lung lymphoma 9.8 IL1A CD79A CD19
50 pneumocystosis 9.8 CD40LG CD4

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



Diseases related to Congenital Hypogammaglobulinemia
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Symptoms & Phenotypes for Congenital Hypogammaglobulinemia

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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 CD4 CD40LG CD79A
2 immune system MP:0005387 9.5 BLNK BTK CD19 CD4 CD40LG CD79A
3 neoplasm MP:0002006 9.02 BLNK BTK CD19 CD79A IL1A
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Drugs & Therapeutics for Congenital Hypogammaglobulinemia

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Search Clinical Trials , NIH Clinical Center for Congenital Hypogammaglobulinemia

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Genetic Tests for Congenital Hypogammaglobulinemia

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Anatomical Context for Congenital Hypogammaglobulinemia

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MalaCards organs/tissues related to Congenital Hypogammaglobulinemia:

41
Liver, B Cells
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Publications for Congenital Hypogammaglobulinemia

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Articles related to Congenital Hypogammaglobulinemia:

(show all 47)
# Title Authors PMID Year
1
[Primary hypogammaglobulinemia complicated with liver cirrhosis and literature review]. 38
27143082 2016
2
Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report. 38
16042804 2005
3
A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. 38
12200606 2002
4
Progressive multifocal leukoencephalopathy in a patient with hypogammaglobulinemia. 38
9675474 1998
5
Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. 38
8890099 1996
6
Elevated serum levels of interleukin-4 and interleukin-6 in patients with common variable immunodeficiency (CVI) are associated with chronic immune activation and low numbers of CD4+ lymphocytes. 38
7906214 1994
7
Raised serum neopterin levels in patients with primary hypogammaglobulinaemia; correlation to other immunological parameters and to clinical and histological features. 38
1638765 1992
8
Multiple colorectal neoplasms in a young adult with hypogammaglobulinemia. Report of a case. 38
1735325 1992
9
Livedo reticularis and congenital hypogammaglobulinemia. 38
1573343 1992
10
[Branhamella catarrhalis: its respiratory pathogenicity in childhood]. 38
2125809 1990
11
[Pyoderma gangrenosum and IgA gammopathy. Association with atrophic gastritis]. 38
2514619 1989
12
Failure of intraventricular gammaglobulin and alpha interferon for persistent encephalitis in congenital hypogammaglobulinaemia. 38
2843137 1988
13
The long term treatment of childhood hypogammaglobulinaemia in Melbourne with intravenous gammaglobulin, 1972-1985. 38
2440742 1987
14
Remission of diarrhoea due to cryptosporidiosis in an immunodeficient child treated with hyperimmune bovine colostrum. 38
3096462 1986
15
[Congenital hypogammaglobulinemia--Bruton's disease]. 38
4064156 1985
16
Gastrointestinal complications of congenital immunodeficiency states. The surgeon's role. 38
6605728 1983
17
Functional studies on lymphocytes from two siblings with congenital hypogammaglobulinaemia. 38
6340179 1983
18
Rice bodies in hypogammaglobulinemic arthritis. 38
7218248 1981
19
[Subacute encephalitis and congenital hypogammaglobulinemia (author's transl)]. 38
7235515 1980
20
Chronic progressive encephalitis in children with x-linked hypogammaglobulinemia. 38
6258108 1980
21
[Congenital hypogammaglobulinemia in a 15 years old male]. 38
317377 1979
22
Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia. 38
314502 1979
23
[Pyoderma gangrenosum associated with congenital hypogammaglobulinemia]. 38
539710 1979
24
Cryptosporidial enteritis in a patient with congenital hypogammaglobulinemia. 38
369983 1979
25
Echovirus encephalitis and myositis in primary immunoglobulin deficiency. 38
626516 1978
26
[A case of congenital hypogammaglobulinemia (Bruton's disease). Clinical, histological and ultrastructural study]. 38
876750 1977
27
[2 cases of encephalitis in immunodepressed patients]. 38
596687 1977
28
[Defect of glycogen utilization by lymphocytes in patients with congenital hypogammaglobulinemia]. 38
4848429 1974
29
Subacute encephalitis and congenital hypogammaglobulinemia. 38
5015595 1972
30
[A case of congenital hypogammaglobulinemia in a child with bronchiectatic disease]. 38
5473237 1970
31
[Severe congenital hypogammaglobulinemia with lymphopenia]. 38
5418613 1970
32
Congenital hypogammaglobulinemia preceding Hodgkin's disease: a case report and review of the literature. 38
5410149 1970
33
Immunoglobulins in congenital hypogammaglobulinemia. 38
4173717 1968
34
[Apropos of a progressive fatal case of vaccinia in an infant with congenital hypogammaglobulinemia]. 38
4186142 1968
35
[Purulent diarrhea with multiple recurrences and congenital hypogammaglobulinemia with lymphopenia in a 4-year-old girl]. 38
5637342 1968
36
[On certain clinical and biological aspects of a case of congenital hypogammaglobulinemia]. 38
5617791 1967
37
[A clinical case of congenital hypogammaglobulinemia]. 38
5592503 1967
38
Paternal immunoglobulin abnormalities in congenital hypogammaglobulinemia. 38
4164115 1967
39
[Progressive fatal vaccinia in an infant with congenital hypogammaglobulinemia]. 38
4167174 1967
40
The Xg blood groups and congenital hypogammaglobulinemia. 38
5860323 1965
41
SUCCESSFUL TREATMENT OF PNEUMOCYSTIS CARINII PNEUMONITIS IN A PATIENT WITH CONGENITAL HYPOGAMMAGLOBULINEMIA. 38
14261461 1965
42
CONGENITAL HYPOGAMMAGLOBULINEMIA. 38
14219508 1965
43
CONGENITAL HYPOGAMMAGLOBULINAEMIA WITH STEATORRHOEA IN TWO ADULT BROTHERS. 38
14161990 1964
44
PNEUMOCYSTIS CARINII PNEUMONIA AND CONGENITAL HYPOGAMMAGLOBULINAEMIA. 38
14162935 1964
45
B.C.G. dissemination in congenital hypogammaglobulinaemia. 38
14014537 1963
46
Congenital Hypogammaglobulinaemia and Megaloblastic Anaemia Presenting as a Case of Bronchiectasis. 38
19994175 1962
47
[Congenital hypogammaglobulinemia in two children of the same family]. 38
14424646 1959
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Variations for Congenital Hypogammaglobulinemia

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Expression for Congenital Hypogammaglobulinemia

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Search GEO for disease gene expression data for Congenital Hypogammaglobulinemia.
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Pathways for Congenital Hypogammaglobulinemia

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.73 IL1A CD79A CD40LG CD4 CD19 BTK
2
Class I MHC mediated antigen processing and presentation 66
Show member pathways
 13.13 CD79A CD40LG CD4 CD19 BTK BLNK
3
IL-2 Pathway 64
Show member pathways
 12.93 IL1A CD79A CD19 BTK BLNK
4
Downstream signaling events of B Cell Receptor (BCR) 66
Show member pathways
 12.48 CD79A CD19 BTK BLNK
5
T cell receptor signaling pathway 37
Show member pathways
 12.3 IL1A CD40LG CD4
6
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.27 CD79A CD19 BTK BLNK
7
Immune response NFAT in immune response 22
Show member pathways
 12.21 CD79A CD40LG CD4 BTK BLNK
8
B Cell Receptor Signaling Pathway (sino) 67
Show member pathways
 12.08 CD4 CD19 BTK
9
NF-kappaB Signaling 4
12.07 CD79A CD40LG CD19 BTK BLNK
10
B cell receptor signaling pathway (KEGG) 1
Show member pathways
 12.06 CD79A CD19 BTK BLNK
11
Fc-GammaR Pathway 64
Show member pathways
 11.81 CD79A BTK BLNK
12
Osteoclast differentiation 37
11.79 IL1A BTK BLNK
13
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.74 CD79A CD4 CD19
14
Hematopoietic cell lineage 37
11.62 IL1A CD4 CD19
15
NF-kappa B signaling pathway 37
11.59 CD40LG BTK BLNK
16
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 66
Show member pathways
 11.28 CD79A CD19 BTK BLNK
17
B Cell Development Pathways 65
11.22 CD40LG CD4 CD19
18
Cytokines and Inflammatory Response 1
11.03 IL1A CD4
19
G-protein signaling_RhoB regulation pathway 22
10.96 IL1A CD40LG BTK
20
Primary immunodeficiency 37
10.74 IGLL1 CD79A CD40LG CD4 CD19 BTK
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GO Terms for Congenital Hypogammaglobulinemia

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

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.13 CD79A CD4 BTK
2 external side of plasma membrane GO:0009897 9.1 IGLL1 IGHV4-38-2 CD79A CD40LG CD4 CD19

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.62 IL1A IGLL1 CD40LG CD4
2 adaptive immune response GO:0002250 9.61 CD79A CD4 BTK
3 cell surface receptor signaling pathway GO:0007166 9.4 CD79A CD4
4 B cell proliferation GO:0042100 9.37 CD79A CD40LG
5 B cell differentiation GO:0030183 9.33 CD79A CD40LG BLNK
6 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.26 IL1A CD4
7 B cell activation GO:0042113 9.13 CD79A BTK BLNK
8 B cell receptor signaling pathway GO:0050853 9.02 IGLL1 IGHV4-38-2 CD79A CD19 BTK
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Sources for Congenital Hypogammaglobulinemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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