MCID: AGM001
MIFTS: 60

Agammaglobulinemia malady

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

Summaries for Agammaglobulinemia

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Disease Ontology:10 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.

Aliases & Classifications for Agammaglobulinemia

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Sources:
10Disease Ontology, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 29ICD9CM, 57SNOMED-CT, 35MeSH, 28ICD10 via Orphanet
See all sources

Agammaglobulinemia, Aliases & Descriptions:

Name: Agammaglobulinemia 10 12 45 62
Hypogammaglobulinemia 10 45 62
Mu Heavy Chain Deficiency 10
Mu Heavy-Chain Disease 49
 
Mu Heavy Chain Disease 62
Mu-Chain Disease 62
Mu-Hcd 49
Ighm 10


Classifications:



Characteristics (Orphanet epidemiological data):

49
mu heavy-chain disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology10 DOID:2583
ICD9CM29 279.00
MeSH35 D000361
Orphanet49 100024
ICD10 via Orphanet28 C88.2

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/GeneDecks gene sharing:

(show top 50)    (show all 279)
idRelated DiseaseScoreTop Affiliating Genes
1agammaglobulinemia, x-linked 131.1IGHM, SRC, BTK
2congenital hypogammaglobulinemia30.6BLNK, IGLL1
3leukemia30.2CD79B, BTK, SRC, BLNK
4chronic lymphocytic leukemia30.2CD79B, IGHM
5burkitt lymphoma30.1IGHM, BLNK, SRC, BTK, CD79B
6wiskott-aldrich syndrome29.8SRC, BTK
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
17growth hormone deficiency10.3
18waldenstrom macroglobulinemia10.3
19narcolepsy10.3
20cryoglobulinemia10.3
21central nervous system lymphoma10.3
22rabies10.3
23neutropenia10.3
24meningoencephalitis10.3
25agammaglobulinemia, non-bruton type10.3
26osteopetrosis, autosomal recessive 710.2
27hepatitis10.2
28amyloidosis10.2
29poliomyelitis10.2
30agammaglobulinemia 7, autosomal recessive10.2
31ataxia-telangiectasia10.2
32agammaglobulinemia 510.2
33agammaglobulinemia 410.2
34agammaglobulinemia 610.2
35agammaglobulinemia 310.2
36agammaglobulinemia 210.2
37agammaglobulinemia and isolated hormone deficiency10.2
38thymic dysplasia10.2
39encephalitis10.2
40isolated growth hormone deficiency10.2
41autosomal agammaglobulinemia10.2
42follicular lymphoma10.1
43malt lymphoma10.1
44mantle cell lymphoma10.1
45cold agglutinin disease10.1
46primary malignant lymphoma10.1
47glomerulonephritis10.1
48severe combined immunodeficiency10.1
49bronchiectasis10.1
50adenocarcinoma10.1

Graphical network of the top 20 diseases related to Agammaglobulinemia:



Diseases related to agammaglobulinemia

Symptoms for Agammaglobulinemia

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Symptoms:

 49 (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:

33
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:

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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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: 32 (show all 137)
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
32BANK1B-cell scaffold protein with ankyrin repeats 1Blood-3.000.000
33ABCB4ATP-binding cassette, sub-family B (MDR/TAP), member 4Blood-2.980.000
34ATP6V0E2-AS1ATP6V0E2 antisense RNA 1Blood-2.950.000
35BLNKB-cell linkerBlood-2.830.000
36CD72CD72 moleculeBlood-2.770.000
37TSPAN13tetraspanin 13Blood-2.750.000
38CR2complement component (3d/Epstein Barr virus) receptor 2Blood-2.670.000
39PMEPA1prostate transmembrane protein, androgen induced 1Blood-2.570.001
40TNFRSF13Ctumor necrosis factor receptor superfamily, member 13CBlood-2.550.000
41CPNE5copine VBlood-2.550.000
42LAMC1laminin, gamma 1 (formerly LAMB2)Blood-2.470.000
43BEND5BEN domain containing 5Blood-2.470.000
44WDR34WD repeat domain 34Blood-2.470.000
45PCSK1Nproprotein convertase subtilisin/kexin type 1 inhibitorBlood-2.460.000
46STAP1signal transducing adaptor family member 1Blood-2.460.000
47FAM129Cfamily with sequence similarity 129, member CBlood-2.450.000
48KCTD7potassium channel tetramerization domain containing 7Blood-2.450.000
49LILRA3leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3Blood-2.440.004
50KCNH8potassium voltage-gated channel, subfamily H (eag-related), member 8Blood-2.380.000
51CD86CD86 moleculeBlood-2.360.000
52LINC01181long intergenic non-protein coding RNA 1181Blood-2.330.004
53E2F5E2F transcription factor 5, p130-bindingBlood-2.310.000
54SPRY1sprouty homolog 1, antagonist of FGF signaling (Drosophila)Blood-2.290.000
55SSPNsarcospanBlood-2.260.000
56CD24CD24 moleculeBlood-2.260.001
57LINC01138long intergenic non-protein coding RNA 1138Blood-2.240.000
58TSPAN7tetraspanin 7Blood-2.240.001
59P2RX5purinergic receptor P2X, ligand-gated ion channel, 5Blood-2.230.000
60PARM1prostate androgen-regulated mucin-like protein 1Blood-2.210.001
61NOTCH2NLnotch 2 N-terminal likeBlood-2.180.016
62NT5E5'-nucleotidase, ecto (CD73)Blood-2.120.001
63DBNDD1dysbindin (dystrobrevin binding protein 1) domain containing 1Blood-2.110.006
64PNOCprepronociceptinBlood-2.100.000
65AFF3AF4/FMR2 family, member 3Blood-2.090.000
66GTF2A1general transcription factor IIA, 1, 19/37kDaBlood-2.080.003
67TXNDC5thioredoxin domain containing 5 (endoplasmic reticulum)Blood-2.070.017
68PLEKHG1pleckstrin homology domain containing, family G (with RhoGef domain) member 1Blood-2.050.000
69TUBB6tubulin, beta 6 class VBlood-2.050.002
70SGCEsarcoglycan, epsilonBlood-2.050.002
71COL4A3collagen, type IV, alpha 3 (Goodpasture antigen)Blood-2.040.002
72EPB41erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)Blood-2.020.025
73PTPRKprotein tyrosine phosphatase, receptor type, KBlood-2.010.003
74PVALBparvalbuminBlood-2.010.007
75ADAM28ADAM metallopeptidase domain 28Blood-1.990.020
76SLC2A5solute carrier family 2 (facilitated glucose/fructose transporter), member 5Blood-1.970.007
77MOB3BMOB kinase activator 3BBlood-1.970.001
78TDRD10tudor domain containing 10Blood+1.960.023
79MIIPmigration and invasion inhibitory proteinBlood-1.960.011
80BACH2BTB and CNC homology 1, basic leucine zipper transcription factor 2Blood-1.960.006
81RALGPS2Ral GEF with PH domain and SH3 binding motif 2Blood-1.950.020
82HS3ST1heparan sulfate (glucosamine) 3-O-sulfotransferase 1Blood-1.930.005
83FGF14fibroblast growth factor 14Blood+1.890.037
84FXYD1FXYD domain containing ion transport regulator 1Blood-1.880.004
85PAK2p21 protein (Cdc42/Rac)-activated kinase 2Blood-1.870.006
86CD40CD40 molecule, TNF receptor superfamily member 5Blood-1.860.005
87IRAK1BP1interleukin-1 receptor-associated kinase 1 binding protein 1Blood-1.850.003
88CD1CCD1c moleculeBlood-1.850.007
89UGT8UDP glycosyltransferase 8Blood-1.840.006
90GPRC5DG protein-coupled receptor, class C, group 5, member DBlood-1.820.016
91FUT2fucosyltransferase 2 (secretor status included)Blood+1.810.035
92GNB5guanine nucleotide binding protein (G protein), beta 5Blood-1.810.023
93CCR6chemokine (C-C motif) receptor 6Blood-1.800.001
94KRTAP21-2keratin associated protein 21-2Blood+1.800.028
95HIP1Rhuntingtin interacting protein 1 relatedBlood-1.790.006
96CNFNcornifelinBlood-1.780.025
97DFNA5deafness, autosomal dominant 5Blood-1.780.041
98RP11-280O1.2uncharacterized LOC400794Blood-1.780.024
99LCN10lipocalin 10Blood-1.760.012
100RASGRP3RAS guanyl releasing protein 3 (calcium and DAG-regulated)Blood-1.760.000
101C19orf45chromosome 19 open reading frame 45Blood-1.750.041
102EBI3Epstein-Barr virus induced 3Blood-1.750.029
103MXI1MAX interactor 1, dimerization proteinBlood-1.740.005
104MIR600HGMIR600 host gene (non-protein coding)Blood-1.730.017
105PLVAPplasmalemma vesicle associated proteinBlood-1.710.014
106CACNG2calcium channel, voltage-dependent, gamma subunit 2Blood-1.710.025
107EDAectodysplasin ABlood+1.690.046
108APOBEC3Fapolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3FBlood-1.690.002
109CD200CD200 moleculeBlood-1.690.006
110GNG7guanine nucleotide binding protein (G protein), gamma 7Blood-1.680.017
111FCRL3Fc receptor-like 3Blood-1.680.005
112DERL3derlin 3Blood-1.680.034
113CACNG5calcium channel, voltage-dependent, gamma subunit 5Blood+1.670.022
114FAM86B1family with sequence similarity 86, member B1Blood-1.660.026
115BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)Blood-1.650.000
116KLHL15kelch-like family member 15Blood-1.640.015
117SIX5SIX homeobox 5Blood-1.640.039
118TLR10toll-like receptor 10Blood-1.620.001
119LINC00661long intergenic non-protein coding RNA 661Blood-1.610.041
120PIP5K1Bphosphatidylinositol-4-phosphate 5-kinase, type I, betaBlood-1.610.007
121CD80CD80 moleculeBlood-1.610.028
122CDKN2Bcyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)Blood+1.590.034
123HIST1H2BNhistone cluster 1, H2bnBlood-1.570.035
124GNLYgranulysinBlood-1.570.048
125ID3inhibitor of DNA binding 3, dominant negative helix-loop-helix proteinBlood-1.570.038
126MBNL3muscleblind-like splicing regulator 3Blood-1.550.021
127HLA-DOAmajor histocompatibility complex, class II, DO alphaBlood-1.540.045
128CABP5calcium binding protein 5Blood-1.520.024
129SOCS4suppressor of cytokine signaling 4Blood-1.520.046
130KLRB1killer cell lectin-like receptor subfamily B, member 1Blood-1.510.023
131CAMK1Gcalcium/calmodulin-dependent protein kinase IGBlood-1.500.044
132TPTE2P6transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6Blood-1.470.042
133ZBTB32zinc finger and BTB domain containing 32Blood-1.460.035
134CLCF1cardiotrophin-like cytokine factor 1Blood-1.430.047
135TTC25tetratricopeptide repeat domain 25Blood-1.430.035
136SELMselenoprotein MBlood-1.400.048
137MPP6membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)Blood-1.370.045


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)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, 13DrugBank, 26HMDB
See all sources

Compounds related to Agammaglobulinemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1piceatannol45 61 1311.8SRC, BTK
2gp 130459.7SRC, BTK
3gf 109203x45 6110.6BTK, SRC
4phosphatidylinositol-3,4,5-trisphosphate45 2610.6BTK, 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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Cellular components related to Agammaglobulinemia according to GeneCards/GeneDecks:

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

Biological processes related to Agammaglobulinemia according to GeneCards/GeneDecks:

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/GeneDecks:

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
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Agammaglobulinemia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet