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MCID: CNG020
MIFTS: 26

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
SNOMED-CT 67 267460002
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 pyoderma and agammaglobulinemia, x-linked. An important gene associated with Congenital Hypogammaglobulinemia is BTK (Bruton Tyrosine Kinase), and among its related pathways/superpathways are Measles and Downstream signaling events of B Cell Receptor (BCR). Affiliated tissues include liver and b cells.

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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 70)
# Related Disease Score Top Affiliating Genes
1 pyoderma 29.7 CD40LG BTK
2 agammaglobulinemia, x-linked 29.3 CD40LG BTK BLNK
3 common variable immunodeficiency 29.0 CD40LG CD19 BTK
4 agammaglobulinemia 29.0 IGLL1 CD40LG CD19 BTK BLNK
5 ecthyma 10.1 CD40LG BTK
6 isolated growth hormone deficiency type iii 10.1 CD40LG BTK
7 paralytic poliomyelitis 10.1 CD40LG BTK
8 poliomyelitis 10.1 CD40LG BTK
9 immunoglobulin a deficiency 1 10.1 CD40LG BTK
10 lambda 5 deficiency 10.1 IGLL1 BLNK
11 mu chain disease 10.1 IGLL1 CD40LG
12 lymphoplasmacytic lymphoma 10.0 CD40LG BTK
13 vaccinia 9.9
14 lymphopenia 9.9
15 encephalitis 9.9
16 spherocytosis, type 5 9.9 CD19 BTK
17 cll/sll 9.9 CD19 BTK
18 meningoencephalitis 9.9
19 bronchiectasis 9.9
20 agammaglobulinemia, non-bruton type 9.8 IGLL1 BTK BLNK
21 transient hypogammaglobulinemia 9.8 CD40LG CD19
22 cerebral lymphoma 9.8 CD40LG CD19
23 alpha chain disease 9.8 CD40LG CD19
24 immunodeficiency, common variable, 1 9.8
25 diarrhea 9.8
26 cryptosporidiosis 9.8
27 pneumonia 9.8
28 pyoderma gangrenosum 9.8
29 adenoid hypertrophy 9.8 CD40LG CD19
30 good syndrome 9.8 CD40LG CD19
31 spleen cancer 9.8 CD40LG CD19
32 primary thrombocytopenia 9.8 CD40LG CD19
33 macroglobulinemia 9.8 CD40LG BTK BLNK
34 mulchandani-bhoj-conlin syndrome 9.8 CD40LG CD19
35 thrombocytopenia due to platelet alloimmunization 9.8 CD40LG CD19
36 autoimmune disease of peripheral nervous system 9.7 CD40LG CD19
37 anemia, autoimmune hemolytic 9.7 CD40LG CD19
38 t cell deficiency 9.7 CD40LG CD19
39 chickenpox 9.7 CD40LG CD19
40 trichohepatoenteric syndrome 1 9.7 CD19 BTK
41 autoimmune disease of blood 9.7 CD40LG CD19
42 autoimmune disease of exocrine system 9.7 CD40LG CD19
43 middle ear disease 9.7 CD40LG CD19
44 splenic disease 9.7 CD40LG CD19
45 monoclonal gammopathy of uncertain significance 9.7 CD40LG CD19
46 plasma cell neoplasm 9.7 CD40LG CD19
47 blood protein disease 9.7 CD40LG CD19
48 spinal cord disease 9.7 CD40LG CD19
49 hypersensitivity reaction type iv disease 9.7 CD40LG CD19
50 blood coagulation disease 9.6 CD40LG CD19

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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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
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]. 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:

# Super pathways Score Top Affiliating Genes
1
Measles 36
Show member pathways
 12.34 CD19 BTK BLNK
2
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.25 CD19 BTK BLNK
3
Immune response NFAT in immune response 22
Show member pathways
 12.14 CD40LG BTK BLNK
4
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.08 CD19 BTK BLNK
5
NF-kappaB Signaling 4
11.97 CD40LG CD19 BTK BLNK
6
B cell receptor signaling pathway (KEGG) 36
Show member pathways
 11.89 CD19 BTK BLNK
7
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 65
Show member pathways
 11.46 CD19 BTK BLNK
8
NF-kappa B signaling pathway 36
11.27 PIDD1 CD40LG BTK BLNK
9
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 9.32 CD40LG BLNK
2 apoptotic signaling pathway GO:0097190 9.26 PIDD1 BTK
3 B cell activation GO:0042113 9.16 BTK BLNK
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.13 PIDD1 CD40LG BTK
5 B cell receptor signaling pathway GO:0050853 8.92 IGLL1 CD19 BTK BLNK
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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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