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MCID: CNG020
MIFTS: 27

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 71
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 34 279.04
UMLS 71 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, x-linked and common variable immunodeficiency. An important gene associated with Congenital Hypogammaglobulinemia is IGLL1 (Immunoglobulin Lambda Like Polypeptide 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Measles. Affiliated tissues include b cells, liver and bone marrow, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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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 72)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, x-linked 29.6 CD40LG BTK
2 common variable immunodeficiency 29.2 CD40LG CD19 BTK
3 agammaglobulinemia 29.1 IGLL1 CD40LG CD19 BTK BLNK
4 cll/sll 10.1 CD19 BTK
5 mu chain disease 10.1 IGLL1 CD40LG
6 amebiasis 10.0 IGLL1 CD40LG
7 isolated growth hormone deficiency type iii 10.0 CD40LG BTK
8 immunodeficiency with hyper-igm, type 1 10.0 CD40LG BTK
9 immunoglobulin a deficiency 1 10.0 CD40LG BTK
10 poliomyelitis 10.0 CD40LG BTK
11 monoclonal paraproteinemia 10.0 CD40LG CD19
12 cerebral lymphoma 10.0 CD40LG CD19
13 adenoid hypertrophy 10.0 CD40LG CD19
14 good syndrome 10.0 CD40LG CD19
15 alpha chain disease 10.0 CD40LG CD19
16 schuurs-hoeijmakers syndrome 9.9 CD40LG CD19
17 thrombocytopenia due to platelet alloimmunization 9.9 CD40LG CD19
18 primary thrombocytopenia 9.9 CD40LG CD19
19 vaccinia 9.9
20 lymphopenia 9.9
21 encephalitis 9.9
22 autoimmune disease of blood 9.9 CD40LG CD19
23 anemia, autoimmune hemolytic 9.9 CD40LG CD19
24 chickenpox 9.9 CD40LG CD19
25 plasma cell neoplasm 9.9 CD40LG CD19
26 middle ear disease 9.9 CD40LG CD19
27 monoclonal gammopathy of uncertain significance 9.9 CD40LG CD19
28 blood protein disease 9.9 CD40LG CD19
29 lymphoid interstitial pneumonia 9.9 CD40LG CD19
30 thrombocytopenic purpura, autoimmune 9.9 CD40LG CD19
31 spinal cord disease 9.9 CD40LG CD19
32 combined t cell and b cell immunodeficiency 9.9 CD40LG CD19
33 marginal zone b-cell lymphoma 9.9 CD40LG CD19
34 exanthem 9.9 CD40LG CD19
35 hypersensitivity reaction type iv disease 9.9 CD40LG CD19
36 lymphatic system cancer 9.9 CD40LG CD19
37 meningoencephalitis 9.9
38 bronchiectasis 9.9
39 mature b-cell neoplasm 9.9 CD40LG CD19
40 blood coagulation disease 9.9 CD40LG CD19
41 x-linked recessive disease 9.8 CD40LG BTK
42 lymphatic system disease 9.8 CD40LG CD19
43 autoimmune disease of musculoskeletal system 9.8 CD40LG CD19
44 primary bacterial infectious disease 9.8 CD40LG CD19
45 agammaglobulinemia, non-bruton type 9.8 IGLL1 BTK BLNK
46 immunodeficiency, common variable, 1 9.8
47 diarrhea 9.8
48 cryptosporidiosis 9.8
49 pyoderma 9.8
50 pneumonia 9.8

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.66 FCGBP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.66 BTK
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.66 FCGBP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.66 BTK
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.66 FCGBP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.66 BTK
7 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.66 BTK
8 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.66 IGLL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.66 FCGBP
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 IGLL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.66 IGLL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.66 FCGBP
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 IGLL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.66 BTK
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.66 BTK
16 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.66 BTK
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 FCGBP
18 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.66 FCGBP
19 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.66 BTK
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 BTK FCGBP IGLL1
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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:

40
B Cells, Liver, Bone Marrow, Bone, Spinal Cord, T 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]. 61
27143082 2016
2
Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report. 61
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. 61
12200606 2002
4
Progressive multifocal leukoencephalopathy in a patient with hypogammaglobulinemia. 61
9675474 1998
5
Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. 61
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. 61
7906214 1994
7
Raised serum neopterin levels in patients with primary hypogammaglobulinaemia; correlation to other immunological parameters and to clinical and histological features. 61
1638765 1992
8
Multiple colorectal neoplasms in a young adult with hypogammaglobulinemia. Report of a case. 61
1735325 1992
9
Livedo reticularis and congenital hypogammaglobulinemia. 61
1573343 1992
10
[Branhamella catarrhalis: its respiratory pathogenicity in childhood]. 61
2125809 1990
11
[Pyoderma gangrenosum and IgA gammopathy. Association with atrophic gastritis]. 61
2514619 1989
12
Failure of intraventricular gammaglobulin and alpha interferon for persistent encephalitis in congenital hypogammaglobulinaemia. 61
2843137 1988
13
The long term treatment of childhood hypogammaglobulinaemia in Melbourne with intravenous gammaglobulin, 1972-1985. 61
2440742 1987
14
Remission of diarrhoea due to cryptosporidiosis in an immunodeficient child treated with hyperimmune bovine colostrum. 61
3096462 1986
15
[Congenital hypogammaglobulinemia--Bruton's disease]. 61
4064156 1985
16
Gastrointestinal complications of congenital immunodeficiency states. The surgeon's role. 61
6605728 1983
17
Functional studies on lymphocytes from two siblings with congenital hypogammaglobulinaemia. 61
6340179 1983
18
Rice bodies in hypogammaglobulinemic arthritis. 61
7218248 1981
19
[Subacute encephalitis and congenital hypogammaglobulinemia (author's transl)]. 61
7235515 1980
20
Chronic progressive encephalitis in children with x-linked hypogammaglobulinemia. 61
6258108 1980
21
[Congenital hypogammaglobulinemia in a 15 years old male]. 61
317377 1979
22
Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia. 61
314502 1979
23
[Pyoderma gangrenosum associated with congenital hypogammaglobulinemia]. 61
539710 1979
24
Cryptosporidial enteritis in a patient with congenital hypogammaglobulinemia. 61
369983 1979
25
Echovirus encephalitis and myositis in primary immunoglobulin deficiency. 61
626516 1978
26
[A case of congenital hypogammaglobulinemia (Bruton's disease). Clinical, histological and ultrastructural study]. 61
876750 1977
27
[2 cases of encephalitis in immunodepressed patients]. 61
596687 1977
28
[Defect of glycogen utilization by lymphocytes in patients with congenital hypogammaglobulinemia]. 61
4848429 1974
29
Subacute encephalitis and congenital hypogammaglobulinemia. 61
5015595 1972
30
[A case of congenital hypogammaglobulinemia in a child with bronchiectatic disease]. 61
5473237 1970
31
[Severe congenital hypogammaglobulinemia with lymphopenia]. 61
5418613 1970
32
Congenital hypogammaglobulinemia preceding Hodgkin's disease: a case report and review of the literature. 61
5410149 1970
33
Immunoglobulins in congenital hypogammaglobulinemia. 61
4173717 1968
34
[Apropos of a progressive fatal case of vaccinia in an infant with congenital hypogammaglobulinemia]. 61
4186142 1968
35
[Purulent diarrhea with multiple recurrences and congenital hypogammaglobulinemia with lymphopenia in a 4-year-old girl]. 61
5637342 1968
36
[On certain clinical and biological aspects of a case of congenital hypogammaglobulinemia]. 61
5617791 1967
37
[A clinical case of congenital hypogammaglobulinemia]. 61
5592503 1967
38
Paternal immunoglobulin abnormalities in congenital hypogammaglobulinemia. 61
4164115 1967
39
[Progressive fatal vaccinia in an infant with congenital hypogammaglobulinemia]. 61
4167174 1967
40
The Xg blood groups and congenital hypogammaglobulinemia. 61
5860323 1965
41
SUCCESSFUL TREATMENT OF PNEUMOCYSTIS CARINII PNEUMONITIS IN A PATIENT WITH CONGENITAL HYPOGAMMAGLOBULINEMIA. 61
14261461 1965
42
CONGENITAL HYPOGAMMAGLOBULINEMIA. 61
14219508 1965
43
CONGENITAL HYPOGAMMAGLOBULINAEMIA WITH STEATORRHOEA IN TWO ADULT BROTHERS. 61
14161990 1964
44
PNEUMOCYSTIS CARINII PNEUMONIA AND CONGENITAL HYPOGAMMAGLOBULINAEMIA. 61
14162935 1964
45
B.C.G. dissemination in congenital hypogammaglobulinaemia. 61
14014537 1963
46
Congenital Hypogammaglobulinaemia and Megaloblastic Anaemia Presenting as a Case of Bronchiectasis. 61
19994175 1962
47
[Congenital hypogammaglobulinemia in two children of the same family]. 61
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 11)
# Super pathways Score Top Affiliating Genes
1
Class I MHC mediated antigen processing and presentation 65
Show member pathways
 12.97 CD40LG CD19 BTK BLNK
2
Measles 36
Show member pathways
 12.36 CD19 BTK BLNK
3
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.27 CD19 BTK BLNK
4
Immune response NFAT in immune response 22
Show member pathways
 12.17 CD40LG BTK BLNK
5
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.08 CD19 BTK BLNK
6
B cell receptor signaling pathway (KEGG) 1
Show member pathways
 11.89 CD19 BTK BLNK
7
NF-kappaB Signaling 4
11.77 CD40LG CD19 BTK BLNK
8
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 65
Show member pathways
 11.46 CD19 BTK BLNK
9
NF-kappa B signaling pathway 36
11.34 CD40LG BTK BLNK
10
B Cell Development Pathways 64
11.13 CD40LG CD19
11
Primary immunodeficiency 36
10.6 IGLL1 CD40LG CD19 BTK BLNK
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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 external side of plasma membrane GO:0009897 8.8 IGLL1 CD40LG CD19

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 9.16 CD40LG BLNK
2 B cell activation GO:0042113 8.96 BTK BLNK
3 B cell receptor signaling pathway GO:0050853 8.8 IGLL1 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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