IGHM
MCID: AGM001
MIFTS: 60

Agammaglobulinemia (IGHM) malady

Genetic diseases, Blood diseases, Cancer diseases, Rare diseases, Immune diseases categories
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Summaries for Agammaglobulinemia

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Hypogammaglobulinemia is a type of primary immune deficiency disease. more...

MalaCards: Agammaglobulinemia, also known as hypogammaglobulinemia, is related to bruton-type agammaglobulinemia and congenital hypogammaglobulinemia, and has symptoms including hepatomegaly/liver enlargement (excluding storage disease), monoclonal immunoglobulins/gammapathy/dysglobulinemia and bone marrow/medullar infiltration. 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 bone marrow, and related mouse phenotypes are tumorigenesis and hematopoietic system.

Disease Ontology:8 A b cell deficiency that is caused by a reduction in all types of gamma globulins.

Description from OMIM:47 612692, 613500, 613506, 613501, 615214 601495, 613502 more

Aliases & Classifications for Agammaglobulinemia

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8Disease Ontology, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 47OMIM, 58SNOMED-CT, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
mu heavy-chain disease:
Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

agammaglobulinemia 8 10 45 62
hypogammaglobulinemia 8 45 62
mu heavy chain deficiency 8
mu heavy-chain disease 49
mu-chain disease 62
mu-hcd 49
ighm 8


External Ids:

Disease Ontology8 DOID:2583
MeSH35 D000361
ICD10 via Orphanet26 C88.2
SNOMED-CT via Orphanet59 61493004

Related Diseases for Agammaglobulinemia

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17GeneCards, 18GeneDecks
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Diseases in the Agammaglobulinemia 3 family:

agammaglobulinemia Primary Agammaglobulinemia
Agammaglobulinemia 5 Agammaglobulinemia 4
Agammaglobulinemia 1 Agammaglobulinemia 6
Agammaglobulinemia 2

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

(show top 50)    (show all 265)
idRelated DiseaseScoreTop Affiliating Genes
1bruton-type agammaglobulinemia31.0IGHM, SRC, BTK
2congenital hypogammaglobulinemia30.6BLNK, IGLL1
3chronic lymphocytic leukemia30.2CD79B, IGHM
4burkitt's lymphoma30.2IGHM, BLNK, SRC, BTK, CD79B
5b-cell chronic lymphocytic leukemia30.1CD79B, IGHM
6leukemia29.8CD79B, BTK, SRC, BLNK
7wiskott-aldrich syndrome29.8SRC, BTK
8heavy chain disease10.9
9transient hypogammaglobulinemia10.7
10transient hypogammaglobulinemia of infancy10.6
11arthritis10.5
12agammaglobulinemia, x-linked 110.4
13primary agammaglobulinemia10.4
14agammaglobulinemia 110.4
15pneumonia10.3
16whim syndrome10.3
17bacteremia10.3
18narcolepsy10.3
19cryoglobulinemia10.3
20central nervous system lymphoma10.3
21rabies10.3
22waldenstrom macroglobulinemia10.3
23common variable immunodeficiency10.3
24growth hormone deficiency10.3
25mu chain disease10.3
26meningoencephalitis10.2
27neutropenia10.2
28amyloidosis10.2
29hepatitis10.2
30poliomyelitis10.2
31achondroplasia and swiss type agammaglobulinemia10.2
32agammaglobulinemia, non-bruton type10.2
33agammaglobulinemia 310.2
34thymic dysplasia10.2
35infectious mononucleosis10.2
36encephalitis10.2
37pyoderma10.2
38thymoma10.2
39isolated growth hormone deficiency10.2
40agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis10.2
41osteopetrosis autosomal recessive 710.1
42follicular lymphoma10.1
43mantle cell lymphoma10.1
44hairy cell leukemia10.1
45cold agglutinin disease10.1
46primary malignant lymphoma10.1
47malt lymphoma10.1
48bronchiectasis10.1
49ataxia telangiectasia10.1
50adenocarcinoma10.1

Graphical network of the top 20 diseases related to Agammaglobulinemia:



Diseases related to agammaglobulinemia

Symptoms for Agammaglobulinemia

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47OMIM, 49Orphanet
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Clinical features from OMIM:

612692,613500,613506,613501,615214,601495,613502

Symptoms:

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

Drugs & Therapeutics for Agammaglobulinemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Agammaglobulinemia:

33
B cells, Bone, Bone marrow, T cells, Liver, Thymus, Monocytes, Skin, Lung, Myeloid, Testes

Animal Models for Agammaglobulinemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Agammaglobulinemia:

37
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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Sources:
52PubMed
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Articles related to Agammaglobulinemia:

(show top 50)    (show all 490)
idTitleAuthorsYear
1
X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report. (23549506)
2013
2
Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients. (23335184)
2013
3
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85I+ subunit of PI3K. (22351933)
2012
4
Cytotoxic T lymphocytes mediate neuronal injury in patients with X-linked agammaglobulinemia and progressive neurodegenerative disease. (21951217)
2011
5
Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. (19904586)
2010
6
Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia. (21039741)
2010
7
Potential application of gene therapy to X-linked agammaglobulinemia. (17969561)
2007
8
X-linked agammaglobulinemia: report on a United States registry of 201 patients. (16862044)
2006
9
Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. (16160918)
2005
10
A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. (16159644)
2005
11
Efficacy of intravenous immunoglobulin on the prevention of pneumonia in patients with agammaglobulinemia. (14987729)
2004
12
Non-progressive viral myelitis in X-linked agammaglobulinemia. (11891104)
2002
13
A case of X-linked agammaglobulinemia diagnosed in adulthood. (11286545)
2001
14
Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/Helicobacter species. (11027452)
2000
15
Response to minocycline of arthritis associated with agammaglobulinemia. A case-report. (9090770)
1997
16
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. (9143921)
1997
17
X-linked agammaglobulinemia. A clinical and molecular analysis. (8982147)
1996
18
X-linked agammaglobulinemia presenting as pseudomonas aeruginosa septicemia. (8893410)
1996
19
B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia. (7929028)
1994
20
Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice. (8162018)
1994
21
Genetic mapping of two loci, DXS454 and DXS458, with respect to the X-linked agammaglobulinemia gene locus. (8270264)
1994
22
Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. (8462977)
1993
23
X-Linked Agammaglobulinemia (20301626)
1993
24
Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. (8332900)
1993
25
Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22. (8499902)
1993
26
Additional polymorphisms useful in linkage analysis for X-linked agammaglobulinemia. (8167704)
1993
27
Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. (1642281)
1992
28
X-linked agammaglobulinemia. (1934617)
1991
29
B-lineage phenotype of lymphoblastoid cell lines from patients with X-linked agammaglobulinemia. (1652799)
1991
30
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis. (2881637)
1987
31
Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. (2880293)
1987
32
Ureaplasma urealyticum polyarthritis in agammaglobulinemia. (4080586)
1985
33
Coxsackievirus B3 producing fatal meningoencephalitis in a patient with X-linked agammaglobulinemia. (6293302)
1983
34
Campylobacter enteritis associated with recurrent abortions in agammaglobulinemia. (6624401)
1983
35
Antigenic analysis of polioviruses isolated from a child with agammaglobulinemia and paralytic poliomyelitis after Sabin vaccine administration. (6273701)
1981
36
Transfer of agammaglobulinemia in the chicken. I. Generation of suppressor activity by injection of bursa cells. (6444847)
1980
37
Bone marrow-derived lymphoid cell lines from patients with agammaglobulinemia. (209061)
1978
38
Anti-D globulin-induced hemolysis in agammaglobulinemia and arthritis. (416415)
1978
39
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
40
Infectious agammaglobulinemia: transmission of immunodeficiency with grafts of agammaglobulinemic cells. (4610075)
1974
41
Agammaglobulinemia with B lymphocytes in a neonate with acrodermatitis enteropathica. (4546718)
1974
42
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
43
Comparative study of bone marrow and blood B cells in infantile and acquired agammaglobulinemia. Possible role of circulating anti-IgM in pathogenesis. (4580388)
1973
44
Amyloidosis associated with primary agammaglobulinemia, severe diarrhea and familial hypogammaglobulinemia. (4182999)
1969
45
Complement activity and inflammatory neutrophil exudation in man. Studies in patients with glomerulonephritis, essential hypocomplementemia and agammaglobulinemia. (4864667)
1967
46
Intravenous administration of modified gamma globulin. Several studies on a patient with agammaglobulinemia. (4163002)
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Agammaglobulinemia

Search GEO for disease gene expression data for Agammaglobulinemia.

Pathways for genes affiliated with Agammaglobulinemia

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50PathCards, 55Reactome, 60Thomson Reuters, 53QIAGEN, 38NCBI BioSystems Database, 5Cell Signaling Technology, 30KEGG, 54R&D Systems
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Pathways related to Agammaglobulinemia according to GeneCards/GeneDecks:

(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 ERK60
G protein signaling G Protein alpha s signaling cascades60
G protein signaling G Protein beta gamma signaling cascades60
9.6SRC, BTK
3
Show member pathways
9.6BTK, SRC
4
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.6BTK, SRC
5
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
9.6BTK, SRC
6
Show member pathways
TRAIL signaling pathway38
9.6BTK, SRC
79.6BTK, SRC
8
Show member pathways
Development A1 receptor signaling60
G protein signaling G Protein alpha q signaling cascades60
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 pathways60
Immune response IL 1 signaling pathway60
8.8BLNK, SRC, BTK
17
Show member pathways
G protein signaling G Protein alpha 12 signaling pathway60
8.8BLNK, SRC, BTK
18
Show member pathways
8.7CD79B, BTK, BLNK
19
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
8.7CD79B, BTK, BLNK
20
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.4IGHM, SRC, BTK, CD79B
218.1IGHM, BLNK, BTK, CD79B
22
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
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 pathway60
Fc-epsilon receptor I signaling in mast cells38
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:
45Novoseek, 61Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Agammaglobulinemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1piceatannol45 61 1111.8SRC, BTK
2gp 130459.7SRC, BTK
3gf 109203x45 6110.6BTK, SRC
4phosphatidylinositol-3,4,5-trisphosphate45 2410.6BTK, SRC
55-hydroxytryptamine459.6BTK, SRC
6phosphotyrosine459.2CD79B, BTK, SRC
7phosphatidylinositol458.9SRC, BTK, CD79B
8threonine458.7CD79B, BTK, SRC
9phosphoinositide458.4CD79B, BTK, SRC, BLNK
10tyrosine458.3CD79B, BTK, SRC, BLNK

GO Terms for genes affiliated with Agammaglobulinemia

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16Gene Ontology
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Cellular components related to Agammaglobulinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.6CD79B, BTK, SRC, BLNK, IGHM

Biological processes related to Agammaglobulinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adaptive immune responseGO:0022509.6IGHM, BTK
2protein autophosphorylationGO:0467779.6BTK, SRC
3B cell receptor signaling pathwayGO:0508539.5CD79B, BTK
4innate immune responseGO:0450878.8BTK, SRC, IGHM
5intracellular signal transductionGO:0355568.7BLNK, SRC, BTK

Molecular functions related to Agammaglobulinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047139.6BTK, SRC
2non-membrane spanning protein tyrosine kinase activityGO:0047159.5BTK, SRC
3SH3/SH2 adaptor activityGO:0050708.8SRC, BLNK

Products for genes affiliated with Agammaglobulinemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Agammaglobulinemia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet