IGHM
MCID: AGM001
MIFTS: 61

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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Wikipedia:65 Hypogammaglobulinemia is a type of primary immune deficiency disease. more...

MalaCards based summary: Agammaglobulinemia, also known as hypogammaglobulinemia, is related to bruton-type agammaglobulinemia and congenital hypogammaglobulinemia, and has symptoms including splenomegaly, 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.

Descriptions from OMIM:46 613502, 601495, 612692, 613500, 613501 613506, 615214 more

Aliases & Classifications for Agammaglobulinemia

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 48Orphanet, 34MeSH, 46OMIM, 57SNOMED-CT, 27ICD9CM, 26ICD10 via Orphanet
See all sources

Agammaglobulinemia, Aliases & Descriptions:

Name: Agammaglobulinemia 8 10 44 62
Hypogammaglobulinemia 8 44 62
Mu Heavy Chain Deficiency 8
Mu Heavy-Chain Disease 48
 
Mu Heavy Chain Disease 62
Mu-Chain Disease 62
Mu-Hcd 48
Ighm 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
mu heavy-chain disease:
Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Adult


External Ids:

Disease Ontology8 DOID:2583
MeSH34 D000361
ICD9CM27 279.00
ICD10 via Orphanet26 C88.2

Related Diseases for Agammaglobulinemia

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Diseases in the Agammaglobulinemia 1 family:

agammaglobulinemia Primary Agammaglobulinemia
Agammaglobulinemia 5 Agammaglobulinemia 4
Agammaglobulinemia 6 Agammaglobulinemia 3
Agammaglobulinemia 2

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

(show top 50)    (show all 276)
idRelated DiseaseScoreTop Affiliating Genes
1bruton-type agammaglobulinemia31.3IGHM, BTK
2congenital hypogammaglobulinemia30.7IGLL1, BLNK
3chronic lymphocytic leukemia30.2IGHM, CD79B
4wiskott-aldrich syndrome29.8SRC, BTK
5burkitt's lymphoma29.4BTK, IGHM, BLNK, SRC, CD79B
6leukemia29.3SRC, CD79B, BTK, BLNK
7heavy chain disease10.9
8arthritis10.5
9agammaglobulinemia 110.4
10agammaglobulinemia, x-linked 110.4
11primary agammaglobulinemia10.4
12pneumonia10.3
13whim syndrome10.3
14bacteremia10.3
15waldenstrom macroglobulinemia10.3
16cryoglobulinemia10.3
17narcolepsy10.3
18central nervous system lymphoma10.3
19rabies10.3
20mu chain disease10.3
21common variable immunodeficiency10.3
22growth hormone deficiency10.3
23neutropenia10.2
24meningoencephalitis10.2
25agammaglobulinemia, non-bruton type10.2
26amyloidosis10.2
27poliomyelitis10.2
28achondroplasia and swiss type agammaglobulinemia10.2
29ataxia telangiectasia10.2
30hepatitis10.2
31thymic dysplasia10.2
32infectious mononucleosis10.2
33pyoderma10.2
34thymoma10.2
35isolated growth hormone deficiency10.2
36agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis10.2
37follicular lymphoma10.1
38malt lymphoma10.1
39mantle cell lymphoma10.1
40hairy cell leukemia10.1
41cold agglutinin disease10.1
42primary malignant lymphoma10.1
43osteopetrosis autosomal recessive 710.1
44glomerulonephritis10.1
45severe combined immunodeficiency10.1
46bronchiectasis10.1
47adenocarcinoma10.1
48b cell deficiency10.1
49dermatitis10.1
50diarrhea10.1

Graphical network of the top 20 diseases related to Agammaglobulinemia:



Diseases related to agammaglobulinemia

Symptoms for Agammaglobulinemia

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Clinical features from OMIM:

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

Symptoms:

48 (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:

32
B cells, Bone, Bone marrow, T cells, Liver, Thymus, Skin, Monocytes, Lung, Neutrophil, Testes, Myeloid

Animal Models for Agammaglobulinemia or affiliated genes

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MGI Mouse Phenotypes related to Agammaglobulinemia:

36
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 509)
idTitleAuthorsYear
1
X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration. (25270678)
2014
2
Tubulointerstitial nephritis complicating IVIG therapy for X-linked agammaglobulinemia. (25005715)
2014
3
Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a. (24481606)
2014
4
Maxillary distraction osteogenesis for treatment of cleft lip and palate in a patient with X-linked agammaglobulinemia. (24947966)
2014
5
A novel Bruton's tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia. (25316352)
2014
6
X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report. (23549506)
2013
7
Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients. (23335184)
2013
8
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85I+ subunit of PI3K. (22351933)
2012
9
Cytotoxic T lymphocytes mediate neuronal injury in patients with X-linked agammaglobulinemia and progressive neurodegenerative disease. (21951217)
2011
10
Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. (19904586)
2010
11
Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia. (21039741)
2010
12
Potential application of gene therapy to X-linked agammaglobulinemia. (17969561)
2007
13
X-linked agammaglobulinemia: report on a United States registry of 201 patients. (16862044)
2006
14
Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. (16160918)
2005
15
A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. (16159644)
2005
16
Non-progressive viral myelitis in X-linked agammaglobulinemia. (11891104)
2002
17
A case of X-linked agammaglobulinemia diagnosed in adulthood. (11286545)
2001
18
Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/Helicobacter species. (11027452)
2000
19
Response to minocycline of arthritis associated with agammaglobulinemia. A case-report. (9090770)
1997
20
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. (9143921)
1997
21
X-linked agammaglobulinemia. A clinical and molecular analysis. (8982147)
1996
22
X-linked agammaglobulinemia presenting as pseudomonas aeruginosa septicemia. (8893410)
1996
23
X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. (7722175)
1995
24
B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia. (7929028)
1994
25
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
26
Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. (8462977)
1993
27
X-Linked Agammaglobulinemia (20301626)
1993
28
Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. (8332900)
1993
29
Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22. (8499902)
1993
30
Additional polymorphisms useful in linkage analysis for X-linked agammaglobulinemia. (8167704)
1993
31
X-linked agammaglobulinemia. (1934617)
1991
32
B-lineage phenotype of lymphoblastoid cell lines from patients with X-linked agammaglobulinemia. (1652799)
1991
33
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis. (2881637)
1987
34
Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. (2880293)
1987
35
Coxsackievirus B3 producing fatal meningoencephalitis in a patient with X-linked agammaglobulinemia. (6293302)
1983
36
Campylobacter enteritis associated with recurrent abortions in agammaglobulinemia. (6624401)
1983
37
Antigenic analysis of polioviruses isolated from a child with agammaglobulinemia and paralytic poliomyelitis after Sabin vaccine administration. (6273701)
1981
38
Transfer of agammaglobulinemia in the chicken. I. Generation of suppressor activity by injection of bursa cells. (6444847)
1980
39
Bone marrow-derived lymphoid cell lines from patients with agammaglobulinemia. (209061)
1978
40
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
41
Infectious agammaglobulinemia: transmission of immunodeficiency with grafts of agammaglobulinemic cells. (4610075)
1974
42
Agammaglobulinemia with B lymphocytes in a neonate with acrodermatitis enteropathica. (4546718)
1974
43
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
44
Comparative study of bone marrow and blood B cells in infantile and acquired agammaglobulinemia. Possible role of circulating anti-IgM in pathogenesis. (4580388)
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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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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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)37
9.6BTK, SRC
5
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
9.6BTK, SRC
6
Show member pathways
TRAIL signaling pathway37
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 pathway37
TCR Signaling Pathway37
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 cells37
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:
44Novoseek, 61Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

Compounds related to Agammaglobulinemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1piceatannol44 61 1111.8SRC, BTK
2gp 130449.7SRC, BTK
3gf 109203x44 6110.6BTK, SRC
4phosphatidylinositol-3,4,5-trisphosphate44 2410.6BTK, SRC
55-hydroxytryptamine449.6BTK, SRC
6phosphotyrosine449.2CD79B, BTK, SRC
7phosphatidylinositol448.9SRC, BTK, CD79B
8threonine448.7CD79B, BTK, SRC
9phosphoinositide448.4CD79B, BTK, SRC, BLNK
10tyrosine448.3CD79B, BTK, SRC, BLNK

GO Terms for genes affiliated with Agammaglobulinemia

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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

Sources for Agammaglobulinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet