MCID: AGM004
MIFTS: 36

Agammaglobulinemia, Non-Bruton Type

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Agammaglobulinemia, Non-Bruton Type

MalaCards integrated aliases for Agammaglobulinemia, Non-Bruton Type:

Name: Agammaglobulinemia, Non-Bruton Type 53 59 29 6
Autosomal Agammaglobulinemia 53 59

Characteristics:

Orphanet epidemiological data:

59
autosomal agammaglobulinemia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Agammaglobulinemia, Non-Bruton Type

NIH Rare Diseases : 53 Agammaglobulinemia, non-Bruton type is a rare form of agammaglobulinemia, which is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. Agammaglobulinemia, non-Bruton type can be caused by changes (mutations) in many different genes, including IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1, and TCF3. In most cases, it is inherited in an autosomal recessive manner; however, families with autosomal dominant inheritance have been reported. Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG). Frequent infections are generally treated with antibiotics.

MalaCards based summary : Agammaglobulinemia, Non-Bruton Type, also known as autosomal agammaglobulinemia, is related to agammaglobulinemia 1, autosomal recessive and immunoglobulin a deficiency 1. An important gene associated with Agammaglobulinemia, Non-Bruton Type is IGHM (Immunoglobulin Heavy Constant Mu), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and IL-2 Pathway. Affiliated tissues include skin, lung and b cells, and related phenotypes are hypertelorism and high palate

Related Diseases for Agammaglobulinemia, Non-Bruton Type

Diseases related to Agammaglobulinemia, Non-Bruton Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 1, autosomal recessive 10.1 BTK IGHM
2 immunoglobulin a deficiency 1 10.1 BTK CD79A
3 plasma protein metabolism disease 10.0 BTK CD79B
4 immunodeficiency with hyper-igm, type 1 10.0 BTK CD79A
5 ecthyma 10.0 BTK CD79B
6 b cell deficiency 10.0 BTK IGLL1
7 amebiasis 10.0 CD79A IGLL1
8 immune deficiency disease 9.9 BTK CD79A
9 agammaglobulinemia, x-linked 9.9 BTK CD79A IGHM
10 waldenstrom macroglobulinemia 9.9 BTK IGHM
11 congenital hypogammaglobulinemia 9.7 BLNK BTK CD79A IGLL1
12 agammaglobulinemia 8.8 BLNK BTK CD79A CD79B IGHM IGLL1

Graphical network of the top 20 diseases related to Agammaglobulinemia, Non-Bruton Type:



Diseases related to Agammaglobulinemia, Non-Bruton Type

Symptoms & Phenotypes for Agammaglobulinemia, Non-Bruton Type

Human phenotypes related to Agammaglobulinemia, Non-Bruton Type:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
3 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
4 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
5 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
6 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
7 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
8 dehydration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001944
9 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
10 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
11 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
12 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
13 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
14 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
15 external ear malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008572
16 osteomyelitis 59 32 frequent (33%) Frequent (79-30%) HP:0002754
17 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
18 conjunctivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000509
19 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
20 meningitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001287
21 neutropenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001875
22 agammaglobulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004432
23 cellulitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100658
24 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
25 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
26 recurrent skin infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0001581
27 bronchiectasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002110
28 verrucae 59 32 occasional (7.5%) Occasional (29-5%) HP:0200043
29 recurrent infections 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Agammaglobulinemia, Non-Bruton Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 BLNK BTK CD79A CD79B LRRC8A PIK3R1
2 immune system MP:0005387 9.5 BLNK BTK CD79A CD79B LRRC8A PIK3R1
3 neoplasm MP:0002006 9.02 BLNK BTK CD79A PIK3R1 TCF3

Drugs & Therapeutics for Agammaglobulinemia, Non-Bruton Type

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia, Non-Bruton Type

Genetic Tests for Agammaglobulinemia, Non-Bruton Type

Genetic tests related to Agammaglobulinemia, Non-Bruton Type:

# Genetic test Affiliating Genes
1 Agammaglobulinemia, Non-Bruton Type 29 IGHM

Anatomical Context for Agammaglobulinemia, Non-Bruton Type

MalaCards organs/tissues related to Agammaglobulinemia, Non-Bruton Type:

41
Skin, Lung, B Cells

Publications for Agammaglobulinemia, Non-Bruton Type

Variations for Agammaglobulinemia, Non-Bruton Type

ClinVar genetic disease variations for Agammaglobulinemia, Non-Bruton Type:

6 (show all 45)
# Gene Variation Type Significance SNP ID Assembly Location
1 BTK NM_000061.2(BTK): c.1574G> A (p.Arg525Gln) single nucleotide variant Pathogenic rs128620183 GRCh37 Chromosome X, 100609675: 100609675
2 BTK NM_000061.2(BTK): c.1574G> A (p.Arg525Gln) single nucleotide variant Pathogenic rs128620183 GRCh38 Chromosome X, 101354687: 101354687
3 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 GRCh37 Chromosome X, 100630190: 100630190
4 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 GRCh38 Chromosome X, 101375202: 101375202
5 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 GRCh37 Chromosome X, 100615569: 100615569
6 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 GRCh38 Chromosome X, 101360581: 101360581
7 BTK NM_000061.2(BTK): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs128621201 GRCh37 Chromosome X, 100611048: 100611048
8 BTK NM_000061.2(BTK): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs128621201 GRCh38 Chromosome X, 101356060: 101356060
9 BTK NM_000061.2(BTK): c.1684C> T (p.Arg562Trp) single nucleotide variant Pathogenic rs128621204 GRCh37 Chromosome X, 100608924: 100608924
10 BTK NM_000061.2(BTK): c.1684C> T (p.Arg562Trp) single nucleotide variant Pathogenic rs128621204 GRCh38 Chromosome X, 101353936: 101353936
11 IGHM IGHM, 75-KB DEL deletion Pathogenic
12 IGHM IGHM, IVS4AS, G-A, -1 single nucleotide variant Pathogenic
13 IGHM IGHM, CYS412GLY undetermined variant Pathogenic
14 IGHM IGHM, 2-BP DEL, AA deletion Pathogenic
15 IGHM NC_000014.9: g.105855107C> T single nucleotide variant Pathogenic rs281865422 GRCh37 Chromosome 14, 106321212: 106321212
16 IGHM NC_000014.9: g.105855107C> T single nucleotide variant Pathogenic rs281865422 GRCh38 Chromosome 14, 105855107: 105855107
17 IGHM NC_000014.9: g.105854468A> C single nucleotide variant not provided rs267606871 GRCh37 Chromosome 14, 106320573: 106320573
18 IGHM NC_000014.9: g.105854468A> C single nucleotide variant not provided rs267606871 GRCh38 Chromosome 14, 105854468: 105854468
19 IGHM X57331.1: g.275C> A single nucleotide variant Pathogenic
20 BTK NM_000061.2(BTK): c.1946delG (p.Ser649Thrfs) deletion Pathogenic GRCh38 Chromosome X, 101349919: 101349919
21 BTK NM_000061.2(BTK): c.1946delG (p.Ser649Thrfs) deletion Pathogenic GRCh37 Chromosome X, 100604907: 100604907
22 BTK NM_000061.2(BTK): c.1706T> C (p.Leu569Pro) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101353914: 101353914
23 BTK NM_000061.2(BTK): c.1706T> C (p.Leu569Pro) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100608902: 100608902
24 BTK NM_000061.2(BTK): c.1630_1631+3delinsGAAA indel Pathogenic GRCh38 Chromosome X, 101354627: 101354631
25 BTK NM_000061.2(BTK): c.1630_1631+3delinsGAAA indel Pathogenic GRCh37 Chromosome X, 100609615: 100609619
26 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic GRCh37 Chromosome X, 100609665: 100609668
27 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic GRCh38 Chromosome X, 101354677: 101354680
28 BTK NM_000061.2(BTK): c.1567-2A> T single nucleotide variant Pathogenic GRCh38 Chromosome X, 101354696: 101354696
29 BTK NM_000061.2(BTK): c.1567-2A> T single nucleotide variant Pathogenic GRCh37 Chromosome X, 100609684: 100609684
30 BTK NM_000061.2(BTK): c.1475G> A (p.Arg492His) single nucleotide variant Uncertain significance rs782338603 GRCh37 Chromosome X, 100611131: 100611131
31 BTK NM_000061.2(BTK): c.1475G> A (p.Arg492His) single nucleotide variant Uncertain significance rs782338603 GRCh38 Chromosome X, 101356143: 101356143
32 BTK NM_000061.2(BTK): c.1116G> C (p.Arg372Ser) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101357570: 101357570
33 BTK NM_000061.2(BTK): c.1116G> C (p.Arg372Ser) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100612558: 100612558
34 BTK NM_000061.2(BTK): c.953C> T (p.Ser318Phe) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101358638: 101358638
35 BTK NM_000061.2(BTK): c.953C> T (p.Ser318Phe) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100613626: 100613626
36 BTK NM_000061.2(BTK): c.863G> A (p.Arg288Gln) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101359324: 101359324
37 BTK NM_000061.2(BTK): c.863G> A (p.Arg288Gln) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100614312: 100614312
38 BTK NM_000061.2(BTK): c.435C> A (p.Cys145Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101362646: 101362646
39 BTK NM_000061.2(BTK): c.435C> A (p.Cys145Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100617634: 100617634
40 BTK NM_000061.2(BTK): c.371G> A (p.Trp124Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 101370018: 101370018
41 BTK NM_000061.2(BTK): c.371G> A (p.Trp124Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 100625006: 100625006
42 BTK NM_000061.2(BTK): c.161delG (p.Gly54Valfs) deletion Pathogenic GRCh37 Chromosome X, 100629603: 100629603
43 BTK NM_000061.2(BTK): c.161delG (p.Gly54Valfs) deletion Pathogenic GRCh38 Chromosome X, 101374615: 101374615
44 BTK NM_000061.2(BTK): c.141+3_141+6del deletion Pathogenic GRCh38 Chromosome X, 101375138: 101375141
45 BTK NM_000061.2(BTK): c.141+3_141+6del deletion Pathogenic GRCh37 Chromosome X, 100630126: 100630129

Expression for Agammaglobulinemia, Non-Bruton Type

Search GEO for disease gene expression data for Agammaglobulinemia, Non-Bruton Type.

Pathways for Agammaglobulinemia, Non-Bruton Type

Pathways related to Agammaglobulinemia, Non-Bruton Type according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 BLNK BTK CD79A CD79B PIK3R1
2
Show member pathways
12.9 BLNK BTK CD79A CD79B PIK3R1
3
Show member pathways
12.75 BLNK BTK CD79A CD79B PIK3R1
4
Show member pathways
12.59 BTK CD79A CD79B IGHM PIK3R1
5
Show member pathways
12.44 BLNK BTK CD79A CD79B PIK3R1
6
Show member pathways
12.36 BLNK BTK CD79A CD79B IGHM PIK3R1
7 12.29 BLNK BTK CD79A TCF3
8
Show member pathways
12.16 BLNK BTK CD79A CD79B IGHM PIK3R1
9
Show member pathways
12.14 BLNK BTK CD79A CD79B PIK3R1
10 12.03 BLNK BTK PIK3R1
11
Show member pathways
11.95 BLNK BTK PIK3R1
12 11.78 BLNK BTK PIK3R1
13
Show member pathways
11.47 BLNK BTK CD79A CD79B PIK3R1
14 11.18 BTK PIK3R1
15 11.13 BLNK BTK CD79A IGLL1
16
Show member pathways
11.05 BLNK BTK CD79A CD79B PIK3R1
17 10.78 BLNK PIK3R1

GO Terms for Agammaglobulinemia, Non-Bruton Type

Cellular components related to Agammaglobulinemia, Non-Bruton Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.7 BLNK BTK CD79A CD79B IGHM LRRC8A
2 external side of plasma membrane GO:0009897 9.26 CD79A CD79B IGHM IGLL1
3 B cell receptor complex GO:0019815 8.62 CD79A CD79B

Biological processes related to Agammaglobulinemia, Non-Bruton Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.62 BTK CD79A CD79B IGHM
2 adaptive immune response GO:0002250 9.56 BTK CD79A CD79B IGHM
3 leukocyte migration GO:0050900 9.54 IGHM IGLL1 PIK3R1
4 B cell receptor signaling pathway GO:0050853 9.35 BTK CD79A CD79B IGHM IGLL1
5 B cell activation GO:0042113 9.33 BLNK BTK CD79A
6 B cell differentiation GO:0030183 9.02 BLNK CD79A CD79B PIK3R1 TCF3

Molecular functions related to Agammaglobulinemia, Non-Bruton Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 8.62 BLNK PIK3R1

Sources for Agammaglobulinemia, Non-Bruton Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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