MCID: AGM001
MIFTS: 59

Agammaglobulinemia malady

Genetic diseases, Blood diseases, Cancer diseases, Rare diseases, Immune diseases categories

Aliases & Classifications for Agammaglobulinemia

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 27ICD9CM, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet
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Agammaglobulinemia, Aliases & Descriptions:

Name: Agammaglobulinemia 9 11 43 60
Hypogammaglobulinemia 9 43 60
Mu Heavy Chain Deficiency 9
Mu Heavy-Chain Disease 47
 
Mu-Chain Disease 60
Mu-Hcd 47
Ighm 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
mu heavy-chain disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology9 DOID:2583
ICD9CM27 279.00
MeSH33 D000361
Orphanet47 100024
ICD10 via Orphanet26 C88.2

Summaries for Agammaglobulinemia

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Disease Ontology:9 A b cell deficiency that is caused by a reduction in all types of gamma globulins.

MalaCards based summary: Agammaglobulinemia, also known as hypogammaglobulinemia, is related to agammaglobulinemia, x-linked 1 and congenital hypogammaglobulinemia, and has symptoms including splenomegaly, abnormal immunoglobulin level and proteinuria. An important gene associated with Agammaglobulinemia is BTK (Bruton agammaglobulinemia tyrosine kinase), and among its related pathways are Fcgamma receptor (FCGR) dependent phagocytosis and G protein signaling G Protein alpha i signaling cascades. The compounds piceatannol and gp 130 have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone and t cells, and related mouse phenotypes are tumorigenesis and hematopoietic system.

Related Diseases for Agammaglobulinemia

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Diseases in the Agammaglobulinemia family:

Agammaglobulinemia 7, Autosomal Recessive Agammaglobulinemia 5
Agammaglobulinemia 4 Agammaglobulinemia 1
Agammaglobulinemia 6 Agammaglobulinemia 3
Agammaglobulinemia 2 Primary Agammaglobulinemia
Autosomal Agammaglobulinemia

Diseases related to Agammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 280)
idRelated DiseaseScoreTop Affiliating Genes
1agammaglobulinemia, x-linked 131.0IGHM, SRC, BTK
2congenital hypogammaglobulinemia30.7BLNK, IGLL1
3chronic lymphocytic leukemia30.1CD79B, IGHM
4wiskott-aldrich syndrome29.8SRC, BTK
5leukemia29.6CD79B, BTK, SRC, BLNK
6burkitt lymphoma29.2IGHM, BLNK, SRC, BTK, CD79B
7heavy chain disease10.9
8arthritis10.5
9agammaglobulinemia 110.4
10primary agammaglobulinemia10.4
11whim syndrome10.4
12pneumonia10.4
13bacteremia10.3
14common variable immunodeficiency10.3
15achondroplasia and severe combined immunodeficiency10.3
16mu chain disease10.3
17agammaglobulinemia, non-bruton type10.3
18growth hormone deficiency10.3
19waldenstrom macroglobulinemia10.3
20narcolepsy10.3
21cryoglobulinemia10.3
22central nervous system lymphoma10.3
23rabies10.3
24agammaglobulinemia and isolated hormone deficiency10.3
25neutropenia10.3
26meningoencephalitis10.3
27osteopetrosis, autosomal recessive 710.2
28agammaglobulinemia 7, autosomal recessive10.2
29agammaglobulinemia 510.2
30agammaglobulinemia 410.2
31agammaglobulinemia 610.2
32agammaglobulinemia 310.2
33agammaglobulinemia 210.2
34hepatitis10.2
35amyloidosis10.2
36poliomyelitis10.2
37agammaglobulinemia x-linked type 210.2
38autosomal agammaglobulinemia10.2
39ataxia-telangiectasia10.2
40thymic dysplasia10.2
41encephalitis10.2
42isolated growth hormone deficiency10.2
43isolated agammaglobulinemia10.2
44agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis10.2
45retinal telangiectasia hypogammaglobulinemia10.1
46follicular lymphoma10.1
47malt lymphoma10.1
48mantle cell lymphoma10.1
49cold agglutinin disease10.1
50primary malignant lymphoma10.1

Graphical network of the top 20 diseases related to Agammaglobulinemia:



Diseases related to agammaglobulinemia

Symptoms for Agammaglobulinemia

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Symptoms:

 47 (show all 10)
  • splenomegaly
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • bone marrow/medullar infiltration
  • hepatomegaly/liver enlargement (excluding storage disease)
  • lymphadenopathy/polyadenopathies
  • proteinuria
  • anaemia
  • renal disease/nephropathy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteolysis/osteoclasia/bone destruction/erosions

HPO human phenotypes related to Agammaglobulinemia:

(show all 9)
id Description Frequency HPO Source Accession
1 splenomegaly hallmark (90%) HP:0001744
2 abnormal immunoglobulin level hallmark (90%) HP:0010701
3 proteinuria typical (50%) HP:0000093
4 anemia typical (50%) HP:0001903
5 hepatomegaly typical (50%) HP:0002240
6 lymphadenopathy typical (50%) HP:0002716
7 nephropathy occasional (7.5%) HP:0000112
8 osteolysis occasional (7.5%) HP:0002797
9 reduced bone mineral density occasional (7.5%) HP:0004349

Drugs & Therapeutics for Agammaglobulinemia

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Drug clinical trials:

Search ClinicalTrials for Agammaglobulinemia

Search NIH Clinical Center for Agammaglobulinemia

Genetic Tests for Agammaglobulinemia

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Anatomical Context for Agammaglobulinemia

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MalaCards organs/tissues related to Agammaglobulinemia:

31
B cells, Bone, T cells, Bone marrow, Prostate, Liver, Thymus, Lung, Skin, Monocytes, Myeloid, Neutrophil, Testes

Animal Models for Agammaglobulinemia or affiliated genes

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MGI Mouse Phenotypes related to Agammaglobulinemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.2BTK, SRC, BLNK, IGHM
2MP:00053977.1CD79B, BTK, SRC, BLNK, IGLL1, IGHM
3MP:00053876.9IGHM, IGLL1, BLNK, SRC, BTK, CD79B

Publications for Agammaglobulinemia

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Articles related to Agammaglobulinemia:

(show top 50)    (show all 523)
idTitleAuthorsYear
1
X-linked agammaglobulinemia in a child conceived using a donor egg:A a medicolegal quandary. (25704966)
2015
2
Evolving practice: x-linked agammaglobulinemia and lung transplantation. (25736826)
2015
3
A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient. (25680287)
2015
4
X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration. (25270678)
2014
5
Tubulointerstitial nephritis complicating IVIG therapy for X-linked agammaglobulinemia. (25005715)
2014
6
Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a. (24481606)
2014
7
Maxillary distraction osteogenesis for treatment of cleft lip and palate in a patient with X-linked agammaglobulinemia. (24947966)
2014
8
X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report. (23549506)
2013
9
Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients. (23335184)
2013
10
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85I+ subunit of PI3K. (22351933)
2012
11
Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. (19904586)
2010
12
Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia. (21039741)
2010
13
Potential application of gene therapy to X-linked agammaglobulinemia. (17969561)
2007
14
X-linked agammaglobulinemia: report on a United States registry of 201 patients. (16862044)
2006
15
Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. (16160918)
2005
16
A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. (16159644)
2005
17
Efficacy of intravenous immunoglobulin on the prevention of pneumonia in patients with agammaglobulinemia. (14987729)
2004
18
Non-progressive viral myelitis in X-linked agammaglobulinemia. (11891104)
2002
19
A case of X-linked agammaglobulinemia diagnosed in adulthood. (11286545)
2001
20
Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/Helicobacter species. (11027452)
2000
21
Response to minocycline of arthritis associated with agammaglobulinemia. A case-report. (9090770)
1997
22
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. (9143921)
1997
23
X-linked agammaglobulinemia. A clinical and molecular analysis. (8982147)
1996
24
X-linked agammaglobulinemia presenting as pseudomonas aeruginosa septicemia. (8893410)
1996
25
X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. (7722175)
1995
26
B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia. (7929028)
1994
27
Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. (8462977)
1993
28
X-Linked Agammaglobulinemia (20301626)
1993
29
Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. (8332900)
1993
30
Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22. (8499902)
1993
31
Additional polymorphisms useful in linkage analysis for X-linked agammaglobulinemia. (8167704)
1993
32
X-linked agammaglobulinemia. (1934617)
1991
33
B-lineage phenotype of lymphoblastoid cell lines from patients with X-linked agammaglobulinemia. (1652799)
1991
34
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis. (2881637)
1987
35
Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. (2880293)
1987
36
Coxsackievirus B3 producing fatal meningoencephalitis in a patient with X-linked agammaglobulinemia. (6293302)
1983
37
Campylobacter enteritis associated with recurrent abortions in agammaglobulinemia. (6624401)
1983
38
Antigenic analysis of polioviruses isolated from a child with agammaglobulinemia and paralytic poliomyelitis after Sabin vaccine administration. (6273701)
1981
39
Transfer of agammaglobulinemia in the chicken. I. Generation of suppressor activity by injection of bursa cells. (6444847)
1980
40
Bone marrow-derived lymphoid cell lines from patients with agammaglobulinemia. (209061)
1978
41
Discontinuous density gradient analysis of human bone marrow: presence of alloantigen--responsive, PHA--unresponsive cells in norman bone marrow; absence of B lymphocytes in the bone marrow of patients with X--linked agammaglobulinemia. (4596970)
1974
42
Infectious agammaglobulinemia: transmission of immunodeficiency with grafts of agammaglobulinemic cells. (4610075)
1974
43
Agammaglobulinemia with B lymphocytes in a neonate with acrodermatitis enteropathica. (4546718)
1974
44
Identification and characterization of subpopulations of lymphocytes in human peripheral blood after fractionation on discontinuous gradients of albumin. The cellular defect in X-linked agammaglobulinemia. (4578158)
1973
45
Amyloidosis associated with primary agammaglobulinemia, severe diarrhea and familial hypogammaglobulinemia. (4182999)
1969
46
Complement activity and inflammatory neutrophil exudation in man. Studies in patients with glomerulonephritis, essential hypocomplementemia and agammaglobulinemia. (4864667)
1967
47
Defective RNA Synthesis in Lymphocytes from Patients with Primary Agammaglobulinemia. (17751856)
1965
48
A case of acquired agammaglobulinemia: its association with bronchiectasis. (14020684)
1962
49
Serum globulin deficiencies in non-tropical sprue, with report of two cases of acquired agammaglobulinemia. (14449878)
1961
50
Agammaglobulinemia; report of a case of historical interest. (13644602)
1959

Variations for Agammaglobulinemia

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Expression for genes affiliated with Agammaglobulinemia

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LifeMap Discovery
Genes differentially expressed in tissues of Agammaglobulinemia patients vs. healthy controls: 30 (show all 31)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1FCRLAFc receptor-like ABlood-6.980.000
2CD19CD19 moleculeBlood-6.590.000
3VPREB3pre-B lymphocyte 3Blood-6.370.000
4CD79ACD79a molecule, immunoglobulin-associated alphaBlood-6.110.000
5OSBPL10oxysterol binding protein-like 10Blood-5.820.000
6TNFRSF17tumor necrosis factor receptor superfamily, member 17Blood-5.790.000
7CNTNAP2contactin associated protein-like 2Blood-5.130.000
8BLKB lymphoid tyrosine kinaseBlood-5.090.000
9EBF1early B-cell factor 1Blood-4.810.000
10IGJimmunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptidesBlood-4.590.000
11CD22CD22 moleculeBlood-4.460.000
12POU2AF1POU class 2 associating factor 1Blood-4.450.000
13LARGElike-glycosyltransferaseBlood-4.370.000
14TCL1AT-cell leukemia/lymphoma 1ABlood-4.260.000
15SPIBSpi-B transcription factor (Spi-1/PU.1 related)Blood-4.150.000
16KLHL14kelch-like family member 14Blood-4.080.000
17TNFRSF13Btumor necrosis factor receptor superfamily, member 13BBlood-4.070.000
18CXCR5chemokine (C-X-C motif) receptor 5Blood-4.030.000
19CD79BCD79b molecule, immunoglobulin-associated betaBlood-3.950.000
20COBLL1cordon-bleu WH2 repeat protein-like 1Blood-3.890.000
21FCRL1Fc receptor-like 1Blood-3.850.000
22FCRL2Fc receptor-like 2Blood-3.840.000
23SNX22sorting nexin 22Blood-3.800.000
24FCER2Fc fragment of IgE, low affinity II, receptor for (CD23)Blood-3.790.000
25HLA-DOBmajor histocompatibility complex, class II, DO betaBlood-3.660.000
26LAMA5laminin, alpha 5Blood-3.400.000
27MS4A1membrane-spanning 4-domains, subfamily A, member 1Blood-3.390.000
28GLDCglycine dehydrogenase (decarboxylating)Blood-3.280.000
29KIAA0125KIAA0125Blood-3.210.000
30KCNG1potassium voltage-gated channel, subfamily G, member 1Blood-3.150.000
31COCHcochlinBlood-3.070.000

Search GEO for disease gene expression data for Agammaglobulinemia.

Pathways for genes affiliated with Agammaglobulinemia

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Pathways related to Agammaglobulinemia according to GeneCards Suite gene sharing:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6SRC, BTK
2
Show member pathways
Development Beta adrenergic receptors regulation of ERK58
G protein signaling G Protein alpha s signaling cascades58
G protein signaling G Protein beta gamma signaling cascades58
9.6SRC, BTK
3
Show member pathways
9.6BTK, SRC
4
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.6BTK, SRC
5
Show member pathways
EPO Receptor Signaling36
EPO signaling pathway36
9.6BTK, SRC
6
Show member pathways
TRAIL signaling pathway36
9.6BTK, SRC
79.6BTK, SRC
8
Show member pathways
Development A1 receptor signaling58
G protein signaling G Protein alpha q signaling cascades58
9.6BTK, SRC
99.6BTK, SRC
109.6BTK, SRC
119.3BLNK, BTK
129.3BTK, BLNK
139.3BTK, BLNK
14
Show member pathways
9.0SRC, BTK, CD79B
158.9BTK, BLNK, IGLL1
16
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways58
Immune response IL 1 signaling pathway58
8.8BLNK, SRC, BTK
17
Show member pathways
G protein signaling G Protein alpha 12 signaling pathway58
8.8BLNK, SRC, BTK
18
Show member pathways
8.7CD79B, BTK, BLNK
19
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
8.7CD79B, BTK, BLNK
20
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
8.4IGHM, SRC, BTK, CD79B
218.1IGHM, BLNK, BTK, CD79B
22
Show member pathways
Immune response T cell receptor signaling pathway58
Immune response CD28 signaling58
Immune response ICOS pathway in T helper cell58
8.1IGHM, BLNK, BTK, CD79B
23
Show member pathways
8.1IGHM, BLNK, BTK, CD79B
24
Show member pathways
8.1IGHM, BLNK, BTK, CD79B
25
Show member pathways
8.1BLNK, SRC, BTK, CD79B
26
Show member pathways
8.1BLNK, SRC, BTK, CD79B
27
Show member pathways
8.1BLNK, SRC, BTK, CD79B
28
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
7.6CD79B, BTK, SRC, BLNK, IGHM
29
Show member pathways
7.6IGHM, BLNK, SRC, BTK, CD79B

Compounds for genes affiliated with Agammaglobulinemia

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Sources:
43Novoseek, 59Tocris Bioscience, 12DrugBank, 24HMDB
See all sources

Compounds related to Agammaglobulinemia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1piceatannol43 59 1211.8SRC, BTK
2gp 130439.7SRC, BTK
3gf 109203x43 5910.6BTK, SRC
4phosphatidylinositol-3,4,5-trisphosphate43 2410.6BTK, SRC
55-hydroxytryptamine439.6BTK, SRC
6phosphotyrosine439.2CD79B, BTK, SRC
7phosphatidylinositol438.9SRC, BTK, CD79B
8threonine438.7CD79B, BTK, SRC
9phosphoinositide438.4CD79B, BTK, SRC, BLNK
10tyrosine438.3CD79B, BTK, SRC, BLNK

GO Terms for genes affiliated with Agammaglobulinemia

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Cellular components related to Agammaglobulinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:00058867.6CD79B, BTK, SRC, BLNK, IGHM

Biological processes related to Agammaglobulinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1adaptive immune responseGO:00022509.6IGHM, BTK
2protein autophosphorylationGO:00467779.6BTK, SRC
3B cell receptor signaling pathwayGO:00508539.5CD79B, BTK
4innate immune responseGO:00450878.8BTK, SRC, IGHM
5intracellular signal transductionGO:00355568.7BLNK, SRC, BTK

Molecular functions related to Agammaglobulinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00047139.6BTK, SRC
2non-membrane spanning protein tyrosine kinase activityGO:00047159.5BTK, SRC
3SH3/SH2 adaptor activityGO:00050708.8SRC, BLNK

Products for genes affiliated with Agammaglobulinemia

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  • Antibodies
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Sources for Agammaglobulinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet