IGHM
MCID: AGM001
MIFTS: 61

Agammaglobulinemia (IGHM) malady

Blood diseases, Cancer diseases categories

Summaries for Agammaglobulinemia

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 bone marrow/medullar infiltration, 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 b cells, bone 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:46 613502, 601495, 615214, 613506, 613500 613501, 612692 more

Aliases & Classifications for Agammaglobulinemia

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8Disease Ontology, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 46OMIM, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

agammaglobulinemia 8 10 44 60
hypogammaglobulinemia 8 44 60
mu heavy chain deficiency 8
mu heavy-chain disease 48
mu-chain disease 60
mu-hcd 48
ighm 8


External Ids:

Disease Ontology8 DOID:2583
MeSH34 D000361
ICD10 via Orphanet26 C88.2
SNOMED-CT via Orphanet57 61493004

Related Diseases for Agammaglobulinemia

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17GeneCards, 18GeneDecks
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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 276)
idRelated DiseaseScoreTop Affiliating Genes
1bruton-type agammaglobulinemia30.9CD164
2congenital hypogammaglobulinemia30.6IGLL1, BLNK
3b-cell chronic lymphocytic leukemia30.2IGHM, CD40, CD79B
4burkitt's lymphoma30.2IGHM, BLNK, WAS, BTK, CD40, CD79B
5malt lymphoma30.0IGHM, CD40
6b-cell lymphomas30.0IGHM, BTK, CD40, CD79B, PLEK
7myeloma29.9IGHM, CD79B, CD40
8leukemia29.9BTK, CD79B, PLEK, CD40, BLNK, TEC
9wiskott-aldrich syndrome29.7WAS, BTK, PLEK, CFP, TEC, SRC
10heavy chain disease10.9
11arthritis10.4
12x-linked disease10.3
13agammaglobulinemia 110.3
14agammaglobulinemia, x-linked 110.3
15pneumonia10.3
16capillary disease10.3
17histiocytoma10.3
18common variable immunodeficiency10.2
19b cell deficiency10.2
20meningoencephalitis10.2
21neutropenia10.2
22primary agammaglobulinemia10.2
23cryoglobulinemia10.2
24narcolepsy10.2
25central nervous system lymphoma10.2
26rabies10.2
27mu chain disease10.2
28mantle cell lymphoma10.2
29chronic lymphocytic leukemia10.2
30hairy cell leukemia10.2
31cold agglutinin disease10.2
32follicular lymphoma10.2
33waldenstrom macroglobulinemia10.2
34primary malignant lymphoma10.2
35amyloidosis10.2
36hepatitis10.2
37poliomyelitis10.2
38achondroplasia and swiss type agammaglobulinemia10.2
39agammaglobulinemia, non-bruton type10.2
40hepatitis c10.1
41lupus erythematosus10.1
42multiple myeloma10.1
43ataxia telangiectasia10.1
44thymic dysplasia10.1
45infectious mononucleosis10.1
46encephalitis10.1
47pyoderma10.1
48severe combined immunodeficiency10.1
49thymoma10.1
50agammaglobulinemia 310.1

Graphical network of the top 20 diseases related to Agammaglobulinemia:



Diseases related to agammaglobulinemia

Clinical Features for Agammaglobulinemia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

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

Symptoms:

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

Drugs & Therapeutics for Agammaglobulinemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Agammaglobulinemia

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32MalaCards
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MalaCards organs/tissues related to Agammaglobulinemia:

32
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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36MGI
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MGI Mouse Phenotypes related to Agammaglobulinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.9TEC, CD79B, CD40, BTK, BLNK, IGLL1
2MP:00053879.5IGHM, CD79B, CD40, BTK, BLNK, IGLL1
3MP:00053979.3WAS, ITK, IGHM, IGLL1, PLEK, BLNK

Publications for Agammaglobulinemia

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Sources:
50PubMed
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Articles related to Agammaglobulinemia:

(show top 50)    (show all 496)
idTitleAuthorsYear
1
Preimplantation genetic diagnosis for X-linked agammaglobulinemia: a case report. (19268935)
2009
2
Prolonged agammaglobulinemia despite unaltered B-cell lymphopoiesis after peritransplant-rituximab administration in a child. (19005417)
2008
3
The health status and quality of life of adults with X-linked agammaglobulinemia. (16377251)
2006
4
X-linked agammaglobulinemia in northern Thailand. (16913189)
2006
5
A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. (16159644)
2005
6
Efficacy of intravenous immunoglobulin on the prevention of pneumonia in patients with agammaglobulinemia. (14987729)
2004
7
Phenotypic variability: clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia. (15112668)
2004
8
A case of X-linked agammaglobulinemia with progressive encephalitis. (15519123)
2004
9
Is neutropenia a clue for early diagnosis of X-linked agammaglobulinemia? (14578037)
2003
10
Pseudomonas aeruginosa septic shock associated with ecthyma gangrenosum in an infant with agammaglobulinemia. (12163911)
2002
11
Cutting edge: lack of peripheral B cells and severe agammaglobulinemia in mice simultaneously lacking Bruton's tyrosine kinase and the B cell-specific transcriptional coactivator OBF-1. (10604987)
2000
12
X-linked agammaglobulinemia. (11107501)
2000
13
Recurrent pneumococcal arthritis as the presenting manifestation of X-linked agammaglobulinemia. (11073766)
2000
14
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. (10678660)
2000
15
X-Linked agammaglobulinemia patients are not infected with Epstein-Barr virus: implications for the biology of the virus. (9882361)
1999
16
Agammaglobulinemia, by Col. Ogden C. Bruton, MC, USA, Pediatrics, 1952;9:722-728. (9651432)
1998
17
Symposium on gene abnormalities in medical diseases. 1. Immunological diseases: Bruton's agammaglobulinemia. (9099606)
1997
18
BTKbase, mutation database for X-linked agammaglobulinemia (XLA). (9016530)
1997
19
X-linked agammaglobulinemia and immunoglobulin deficiency with normal or elevated IgM: immunodeficiencies of B cell development and differentiation. (8607374)
1995
20
Expression of the X-linked agammaglobulinemia gene, btk in B-cell acute lymphoblastic leukemia. (8152253)
1994
21
The molecular basis of X-linked agammaglobulinemia, hyper-IgM syndrome, and severe combined immunodeficiency in humans. (9371254)
1994
22
Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. (8168076)
1994
23
Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22. (8499902)
1993
24
Bone marrow cells in X-linked agammaglobulinemia express pre-B-specific genes (lambda-like and V pre-B) and present immunoglobulin V-D-J gene usage strongly biased to a fetal-like repertoire. (8473505)
1993
25
Chronic enteroviral meningoencephalitis in agammaglobulinemia: case report and literature review. (1512300)
1992
26
Diversity of immunoglobulin heavy chain gene segment rearrangement in B lymphoblastoid cell lines from X-linked agammaglobulinemia patients. (1915549)
1991
27
Lymphocyte analysis in a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency after development of echovirus dermatomyositis and meningoencephalitis. (2759712)
1989
28
Expression of the gene defect in X-linked agammaglobulinemia. (3488506)
1986
29
Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci. (2877937)
1986
30
Congenital agammaglobulinemia: pan-hypo-gammaglobulinemia. (7174108)
1982
31
Prolonged excretion of group A coxsackievirus in an infant with agammaglobulinemia. (6290576)
1982
32
Pulmonary hypertrophic osteoarthropathy in a child with late-onset agammaglobulinemia. (7160408)
1982
33
Isolation of helper T cells from the peripheral blood of normal donors, using serum from a patient with agammaglobulinemia. (6975194)
1981
34
Transfer of agammaglobulinemia in the chicken. II. Characterization of the target of suppression. (6767549)
1980
35
Immunologic maturation in an infant born to a mother with agammaglobulinemia. (7424853)
1980
36
Agammaglobulinemia and poliomyelitis-like illness. (420423)
1979
37
Bone marrow-derived lymphoid cell lines from patients with agammaglobulinemia. (209061)
1978
38
Agammaglobulinemia with arthritis and celiac disease developing after infectious mononucleosis. Follow-up study of a case. (302479)
1977
39
Infantile agammaglobulinemia and immediate hypersensitivity to penicillin G. (576692)
1977
40
Assessment of the B-lymphocyte population in agammaglobulinemia. (1096986)
1975
41
Agammaglobulinemia associated with Australia-antigen-positive chronic active hepatitis. (4207534)
1974
42
Swiss type agammaglobulinemia in the United States. Autosomal recessive lymphopenic thymic dysplasia with agammaglobulinemia. (5539811)
1971
43
Swiss agammaglobulinemia with hypoglycemia, osseous changes and eosinophilia. (5424299)
1970
44
In vitro immune response of peripheral lymphocytes in agammaglobulinemia and dysgammaglobulinemia. (4186943)
1969
45
Agammaglobulinemia and regional enteritis. (5809684)
1969
46
Defective RNA Synthesis in Lymphocytes from Patients with Primary Agammaglobulinemia. (17751856)
1965
47
Agammaglobulinemia with bronchopulmonary manifestations. Report of a case. (5844587)
1965
48
A case of acquired agammaglobulinemia: its association with bronchiectasis. (14020684)
1962
49
Immunological deficiency diseases. Agammaglobulinemia, hypogammaglobulinemia, Hodgkin's disease and sarcoidosis. (13900248)
1962
50
Acquired agammaglobulinemia with hypersplenism; a case report. (14361407)
1955

Genetic Variations for Agammaglobulinemia

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Expression for genes affiliated with Agammaglobulinemia

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1BioGPS, 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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Sources:
37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 29KEGG, 53Reactome, 4Cell Signaling Technology
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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
10.3BTK, CD79B, BLNK
3
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
Hide members
10.3SRC, BTK, BLNK
410.3BLNK, BTK, CD40
5
Hide members
10.3TEC, SRC, BTK
6
Development EPO-induced Jak-STAT pathway
Hide members
10.3TEC, BTK, SRC
710.3SRC, TEC, BTK
8
Hide members
10.3SRC, CD40, CFP
910.3BLNK, TEC, BTK
10
Hide members
10.3WAS, ITK, TEC
1110.2BMX, SRC, TEC
1210.2IGHM, BTK, CD79B, BLNK
13
Hide members
10.2SRC, WAS, ITK, BTK
1410.2CD40, IGLL1, BLNK, BTK
1510.2CD40, BMX, BTK, TEC
16
Immune response NFAT in immune response
Hide members
10.2CD79B, ITK, IGHM, BLNK, BTK
17
Hide members
10.2ITK, BLNK, BTK, CD79B, SRC
18
Hide members
10.2BTK, ITK, CD79B, SRC, BLNK
19
Hide members
10.1SRC, BTK, TEC, BLNK, CD79B
2010.1SRC, TEC, BTK, ITK, BMX
2110.1TEC, BLNK, ITK, BMX, BTK
22
Hide members
10.1TEC, ITK, BTK, IGHM, BLNK, CD79B
23
Hide members
10.0BTK, TEC, ITK, BMX, SRC, WAS
24
Hide members
10.0WAS, SRC, ITK, BTK, BMX, TEC
25
Hide members
10.0IGHM, WAS, BTK, CD79B, SRC, ITK
26
Hide members
10.0WAS, CD79B, ITK, IGHM, CD40, BTK
2710.0CD79B, TEC, BLNK, IGHM, ITK, WAS
28
Hide members
9.9IBTK, BLNK, CD79B, TEC, ITK, SH3BP5

Compounds for genes affiliated with Agammaglobulinemia

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 11DrugBank, 49PharmGKB
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Compounds related to Agammaglobulinemia according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate44 2411.4PLEK, TEC, SRC, BTK
2phosphotyrosine4410.4CD79B, ITK, BTK, PLEK, SRC
3pip24410.3BTK, WAS, PLEK
4wortmannin4410.3TEC, PLEK, CD40, BTK, WAS, SRC
5rapamycin4410.3CCNG2, SRC, PLEK, CD40, WAS
6phosphoinositide4410.3CD79B, PLEK, SRC, TEC, BTK, BLNK
7ly2940024410.3PLEK, CD40, BTK, BMX, SRC
8proline4410.2TEC, WAS, PLEK, BTK, SH3BP5, ITK
9adp44 28 2412.2TEC, PLEK, CD40, BTK, ITK, BMX
10genistein44 28 59 2 11 2415.2BTK, CD40, PLEK, SRC
11threonine4410.2BTK, ITK, CD40, PLEK, SRC, CD79B
12fibrinogen4410.2TEC, PLEK, CD40, BTK
13phosphatidylinositol4410.1ITK, BTK, WAS, CD40, CD79B, PLEK
14gf 109203x44 5911.0SRC, PLEK, BTK
15calcium44 49 11 2412.9IBTK, WAS, PLEK, TEC, ITK, CD79B
16tyrosine449.9ITK, SH3BP5, SRC, TEC, PLEK, CD79B
17serine449.9CD40, CD79B, SRC, BTK, ITK, WAS

GO Terms for genes affiliated with Agammaglobulinemia

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16Gene Ontology
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Biological processes related to Agammaglobulinemia according to GeneCards/GeneDecks:

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

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

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  • Antibodies
  • Proteins
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet