IGHM
MCID: AGM001
MIFTS: 58

Agammaglobulinemia (IGHM) malady

Blood, Cancer categories

Summaries for Agammaglobulinemia

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Hypogammaglobulinemia is a type of primary immune deficiency disease characterized by a reduction in all... more...

MalaCards: Agammaglobulinemia, also known as hypogammaglobulinemia, is related to bruton-type agammaglobulinemia and congenital hypogammaglobulinemia, and has symptoms including osteoporosis/osteopenia/demineralisation/osteomalacia/rickets, hepatomegaly/liver enlargement (excluding storage disease) and splenomegaly. An important gene associated with Agammaglobulinemia is BTK (Bruton agammaglobulinemia tyrosine kinase), and among its related pathways are Class I PI3K signaling events and Fc-GammaR Pathway. The compounds phosphatidylinositol-3,4,5-trisphosphate and phosphotyrosine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone marrow, and related mouse phenotypes are cellular and immune system.

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

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

Aliases & Classifications for Agammaglobulinemia

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 49Orphanet, 57SNOMED-CT, 47OMIM, 35MeSH, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Blood


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 61
hypogammaglobulinemia 8 45 61
mu heavy chain deficiency 8
mu heavy-chain disease 49
mu-chain disease 61
mu-hcd 49
ighm 8


External Ids:

Disease Ontology8 DOID:2583
MeSH35 D000361
ICD10 via Orphanet26 C88.2
SNOMED-CT via Orphanet58 61493004

Related Diseases for Agammaglobulinemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Agammaglobulinemia family:

primary agammaglobulinemia agammaglobulinemia 5
agammaglobulinemia 4 agammaglobulinemia 1
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 245)
idRelated DiseaseScoreTop Affiliating Genes
1bruton-type agammaglobulinemia30.9CD164
2congenital hypogammaglobulinemia30.6IGLL1, BLNK
3b-cell chronic lymphocytic leukemia30.3IGHM, CD40, CD79B
4burkitt's lymphoma30.3WAS, IGHM, BLNK, BTK, CD40, CD79B
5b-cell lymphomas30.1IGHM, BTK, CD40, CD79B, PLEK
6wiskott-aldrich syndrome29.7WAS, BTK, PLEK, CFP, TEC, SRC
7primary immunodeficiency disease29.7WAS, CD40
8arthritis10.4
9primary agammaglobulinemia10.4
10agammaglobulinemia 110.4
11agammaglobulinemia, x-linked 110.3
12whim syndrome10.3
13bacteremia10.3
14common variable immunodeficiency10.3
15growth hormone deficiency10.3
16meningoencephalitis10.2
17cryoglobulinemia10.2
18narcolepsy10.2
19central nervous system lymphoma10.2
20rabies10.2
21mu chain disease10.2
22mantle cell lymphoma10.2
23cold agglutinin disease10.2
24follicular lymphoma10.2
25waldenstrom macroglobulinemia10.2
26primary malignant lymphoma10.2
27amyloidosis10.2
28achondroplasia and swiss type agammaglobulinemia10.2
29agammaglobulinemia, non-bruton type10.2
30transient hypogammaglobulinemia of infancy10.2
31hepatitis c10.1
32ataxia telangiectasia10.1
33thymic dysplasia10.1
34infectious mononucleosis10.1
35hepatitis a10.1
36thymoma10.1
37isolated growth hormone deficiency10.1
38agammaglobulinemia 310.1
39agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis10.1
40osteopetrosis autosomal recessive 710.1
41retinal telangiectasia hypogammaglobulinemia10.1
42bronchiectasis10.1
43adenocarcinoma10.1
44agammaglobulinemia x-linked type 210.1
45agammaglobulinemia 1, autosomal recessive10.1
46ataxia10.1
47sepsis10.1
48agammaglobulinemia 610.1
49non-hodgkin lymphoma10.1
50primary biliary cirrhosis10.1

Graphical network of the top 20 diseases related to Agammaglobulinemia:



Diseases related to agammaglobulinemia

Clinical Features for Agammaglobulinemia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

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

Symptoms:

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

Drugs & Therapeutics for Agammaglobulinemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Agammaglobulinemia

Drug clinical trials:

Search ClinicalTrials for Agammaglobulinemia

Search NIH Clinical Center for Agammaglobulinemia

Search CenterWatch for Agammaglobulinemia

Genetic Tests for Agammaglobulinemia

Anatomical Context for Agammaglobulinemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Agammaglobulinemia:

33
Skin, Lung, Bone marrow, Thymus, Myeloid, Monocytes, T cells, B lymphoblasts, B cells, Fetal lung

Animal Models for Agammaglobulinemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Agammaglobulinemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.9IGHM, IGLL1, BLNK, BTK, CD40, CD79B
2MP:00053879.5SRC, IBTK, WAS, BMX, ITK, IGHM
3MP:00053979.3IGLL1, IGHM, ITK, WAS, IBTK, BLNK

Publications for Agammaglobulinemia

Sources:
51PubMed
See all sources

Articles related to Agammaglobulinemia:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report. (23549506)
2013
2
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. (23280491)
2013
3
X-linked agammaglobulinemia in community-acquired pneumonia cases revealed by immunoglobulin level screening at hospital admission. (24158890)
2013
4
A postmeningitic cochlear implant patient who was postoperatively diagnosed as having X-linked agammaglobulinemia. (22341605)
2012
5
Successful approach to treatment of Helicobacter bilis infection in X-linked agammaglobulinemia. (22843217)
2012
6
Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia. (21039741)
2010
7
Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia. (20721470)
2010
8
Morganella morganii pericarditis in a child with X-linked agammaglobulinemia. (20723125)
2010
9
Adults with X-linked agammaglobulinemia: impact of disease on daily lives, quality of life, educational and socioeconomic status, knowledge of inheritance, and reproductive attitudes. (18794707)
2008
10
Isolation of a type 3 vaccine-derived poliovirus (VDPV) from an Iranian child with X-linked agammaglobulinemia. (18674576)
2008
11
Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta. (18682105)
2008
12
Iris atrophy in a patient with X-linked agammaglobulinemia. (18059520)
2007
13
Sepsis caused by Veillonella parvula infection in a 17-year-old patient with X-linked agammaglobulinemia (Bruton's disease). (16825407)
2006
14
Screening of the Bruton Tyrosine Kinase (BTK) Gene Mutations in 13 Iranian Patients with Presumed X-Linked Agammaglobulinemia. (17301411)
2004
15
Gene symbol: btk. Disease: Bruton agammaglobulinemia. (12974276)
2003
16
A case of X-linked agammaglobulinemia diagnosed in adulthood. (11286545)
2001
17
Regional enteritis associated with enterovirus in a patient with X-linked agammaglobulinemia. (10841685)
2000
18
Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia. (10737994)
2000
19
Index of suspicion. Case #3. Diagnosis: X-linked agammaglobulinemia (XLA). (11270962)
2000
20
Pneumocystis carinii pneumonia in an infant with X-linked agammaglobulinemia. (9564810)
1998
21
Vitamin B12 deficiency and subclinical infection with Giardia lamblia in an adolescent with agammaglobulinemia of Bruton. (9007660)
1997
22
Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. (9260159)
1997
23
X-linked agammaglobulinemia. A clinical and molecular analysis. (8982147)
1996
24
Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan. (8834236)
1996
25
X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. (7722175)
1995
26
Mutation analysis of the gene encoding Bruton's tyrosine kinase in a family with a sporadic case of X-linked agammaglobulinemia reveals three female carriers. (8588584)
1995
27
The protein defective in X-linked agammaglobulinemia, Bruton's tyrosine kinase, shows increased autophosphorylation activity in vitro when isolated from cells in which the B cell receptor has been cross-linked. (7737282)
1995
28
Atypical X-linked agammaglobulinemia. (8078565)
1994
29
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X- linked agammaglobulinemia families. (7849721)
1994
30
Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. (1642281)
1992
31
Sex-linked agammaglobulinemia (Bruton's disease). A case report. (1581837)
1992
32
X-linked agammaglobulinemia and isolated growth hormone deficiency. (1872183)
1991
33
B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers. (3123521)
1988
34
Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM. (6327761)
1984
35
Symptomatic giardiasis in three patients with X-linked agammaglobulinemia. (7201017)
1982
36
Partial immunologic reconstitution of a patient with acquired agammaglobulinemia: a transient phenomenon accompanying therapeutic plasmapheresis. (6976807)
1982
37
Moxalactam in treatment of recurrent Escherichia coli meningitis and ventriculitis in an infant with agammaglobulinemia. (6456138)
1981
38
Paralytic poliomyelitis in a child with agammaglobulinemia. (315313)
1979
39
Anti-D globulin-induced hemolysis in agammaglobulinemia and arthritis. (416415)
1978
40
Functional differentiation of B lymphocytes in agammaglobulinemia. III. Characterization of spontaneous suppressor cell activity. (213491)
1978
41
Further characterization of the sensitizing bursa cells and of the target for suppression in the transfer of agammaglobulinemia. (411352)
1977
42
The use of transfer factor in a patient with agammaglobulinemia. (1080556)
1975
43
Malabsorption and protein-losing enteropathy in a child with X-linked agammaglobulinemia. (49233)
1975
44
Infectious agammaglobulinemia: transmission of immunodeficiency with grafts of agammaglobulinemic cells. (4610075)
1974
45
A case of agammaglobulinemia characterized by a defect of B-lymphocyte-differentiation to plasma cells. (4603989)
1974
46
Agammaglobulinemia and thymoma associated with nonthymic cancer. (5443108)
1970
47
Thymic dysplasia (&quot;Swiss agammaglobulinemia&quot;). II. Morphologic and functional observations. (6022177)
1967
48
Congenital agammaglobulinemia: a review. (4162957)
1966
49
Agammaglobulinemia: some current concepts. (5319609)
1965
50
Artificial development of agammaglobulinemia and of the lack of reaction to a foreign antigen in guinea pigs and in rabbits. (13882871)
1962

Genetic Variations for Agammaglobulinemia

Expression for genes affiliated with Agammaglobulinemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore, 30KEGG, 54Reactome, 4Cell Signaling Technology
See all sources

Pathways related to Agammaglobulinemia according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3SRC, BTK, ITK
2
Hide members
10.3BLNK, BTK, CD79B
3
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
Hide members
10.3BLNK, BTK, SRC
410.3BLNK, BTK, CD40
510.3BTK, TEC, SRC
6
Development EPO-induced Jak-STAT pathway
Hide members
10.3BTK, TEC, SRC
7
Hide members
10.3SRC, TEC, BTK
8
Hide members
10.3CD40, CFP, SRC
910.3TEC, BTK, BLNK
10
Hide members
10.3TEC, ITK, WAS
1110.2BMX, TEC, SRC
1210.2CD79B, BTK, BLNK, IGHM
13
Hide members
10.2SRC, BTK, ITK, WAS
1410.2CD40, BTK, BLNK, IGLL1
1510.2BMX, BTK, CD40, TEC
16
Immune response NFAT in immune response
Hide members
10.2ITK, IGHM, BLNK, BTK, CD79B
17
Hide members
10.2SRC, CD79B, BTK, BLNK, ITK
18
Hide members
10.2ITK, BLNK, BTK, CD79B, SRC
19
Hide members
10.1BLNK, BTK, CD79B, TEC, SRC
2010.1BMX, ITK, BTK, TEC, SRC
2110.1TEC, BTK, BLNK, ITK, BMX
22
Hide members
10.1ITK, IGHM, BLNK, BTK, CD79B, TEC
23
Hide members
10.0WAS, BMX, ITK, BTK, TEC, SRC
24
Hide members
10.0WAS, BMX, ITK, BTK, TEC, SRC
25
Hide members
10.0WAS, ITK, IGHM, BLNK, BTK, CD79B
26
Hide members
10.0WAS, ITK, IGHM, BLNK, BTK, CD40
2710.0WAS, ITK, IGHM, BLNK, BTK, CD79B
28
Hide members
9.9TEC, IBTK, WAS, ITK, SH3BP5, BLNK

Compounds for genes affiliated with Agammaglobulinemia

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Agammaglobulinemia according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate45 2411.4BTK, PLEK, TEC, SRC
2phosphotyrosine4510.4ITK, BTK, CD79B, PLEK, SRC
3pip24510.3PLEK, BTK, WAS
4wortmannin4510.3WAS, BTK, CD40, PLEK, TEC, SRC
5rapamycin4510.3SRC, PLEK, CD40, WAS, CCNG2
6phosphoinositide4510.3CCNG2, BLNK, BTK, CD79B, PLEK, TEC
7ly2940024510.3BMX, BTK, CD40, PLEK, SRC
8proline4510.2WAS, ITK, SH3BP5, BTK, PLEK, TEC
9adp45 29 2412.2WAS, BMX, ITK, BTK, CD40, PLEK
10genistein45 29 60 2 11 2415.2SRC, PLEK, CD40, BTK
11threonine4510.2ITK, BTK, CD40, CD79B, PLEK, SRC
12fibrinogen4510.2BTK, CD40, PLEK, TEC
13phosphatidylinositol4510.1SRC, WAS, BMX, ITK, BTK, CD40
14gf 109203x45 6011.0BTK, PLEK, SRC
15calcium45 50 11 2412.9IBTK, WAS, BMX, ITK, BLNK, BTK
16tyrosine459.9WAS, BMX, ITK, SH3BP5, BLNK, BTK
17serine459.9WAS, ITK, BTK, CD40, CD79B, PLEK

GO Terms for genes affiliated with Agammaglobulinemia

Sources:
16Gene Ontology
See all sources

Biological processes related to Agammaglobulinemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1adaptive immune responseGO:00225010.4BTK, ITK
2B cell receptor signaling pathwayGO:05085310.3TEC, CD79B, BTK
3positive regulation of integrin activationGO:03362510.2SRC, PLEK
4intracellular signal transductionGO:03555610.2BMX, ITK, SH3BP5, BLNK, BTK
5immune responseGO:00695510.2CFP, CD79B, CD164, IGLL1, IGHM, WAS
6innate immune responseGO:04508710.1WAS, ITK, BTK, CFP, TEC, SRC
7signal transductionGO:0071659.7BMX, ITK, SH3BP5, CD164, CD79B, SRC

Molecular functions related to Agammaglobulinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00471310.3SRC, BTK, BMX
2non-membrane spanning protein tyrosine kinase activityGO:0047159.8SRC, TEC, BTK, ITK, BMX

Products for genes affiliated with Agammaglobulinemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Agammaglobulinemia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet