MCID: AGM004
MIFTS: 36

Agammaglobulinemia, Non-Bruton Type

Categories: Rare diseases, Blood 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 agammaglobulinemia, x-linked. 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 Phospholipase-C Pathway. Affiliated tissues include skin and lung, and related phenotypes are high palate and sinusitis

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 10.4 BTK IGHM
2 agammaglobulinemia, x-linked 10.0 BTK IGHM
3 immunoglobulin a deficiency 1 9.8 BTK CD79A
4 immunodeficiency with hyper-igm, type 1 9.7 BTK CD79A
5 ecthyma 9.6 BTK CD79B
6 plasma protein metabolism disease 9.6 BTK CD79A
7 ventilation pneumonitis 9.6 CD79A IGLL1
8 bird fancier's lung 9.6 CD79A IGLL1
9 amebiasis 9.4 CD79A IGLL1
10 b cell deficiency 9.2 BTK CD79A IGLL1
11 congenital hypogammaglobulinemia 8.5 BLNK BTK CD79A IGLL1
12 agammaglobulinemia 6.0 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 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
2 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
3 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
4 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
5 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
6 conjunctivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000509
7 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
8 meningitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001287
9 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
10 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
11 recurrent skin infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0001581
12 neutropenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001875
13 dehydration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001944
14 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
15 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
16 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
17 bronchiectasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002110
18 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
19 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
20 osteomyelitis 59 32 frequent (33%) Frequent (79-30%) HP:0002754
21 agammaglobulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004432
22 external ear malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008572
23 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
24 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
25 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
26 cellulitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100658
27 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
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 TCF3 BLNK BTK CD79A CD79B LRRC8A
2 immune system MP:0005387 9.5 TCF3 BLNK BTK CD79A CD79B LRRC8A
3 neoplasm MP:0002006 9.02 TCF3 BLNK BTK CD79A PIK3R1

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

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 GRCh37 Chromosome X, 100608902: 100608902
23 BTK NM_000061.2(BTK): c.1706T> C (p.Leu569Pro) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101353914: 101353914
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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 BLNK BTK CD79A CD79B PIK3R1
2
Show member pathways
12.77 BLNK BTK CD79A CD79B PIK3R1
3
Show member pathways
12.62 BTK CD79A CD79B IGHM PIK3R1
4
Show member pathways
12.51 BLNK BTK CD79A CD79B PIK3R1
5
Show member pathways
12.44 BLNK BTK CD79A CD79B PIK3R1
6 12.31 BLNK BTK CD79A TCF3
7
Show member pathways
12.27 BLNK BTK CD79A CD79B IGHM PIK3R1
8
Show member pathways
12.14 BLNK BTK CD79A CD79B PIK3R1
9
Show member pathways
11.95 BLNK BTK PIK3R1
10 11.79 BLNK BTK PIK3R1
11
Show member pathways
11.67 BLNK BTK CD79A CD79B PIK3R1
12
Show member pathways
11.66 BLNK BTK CD79A CD79B IGHM PIK3R1
13
Show member pathways
11.38 BLNK BTK CD79A CD79B PIK3R1
14 11.19 BLNK BTK CD79A IGLL1
15 11.17 BTK PIK3R1
16 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 9.8 BLNK BTK CD79A CD79B IGHM LRRC8A
2 external side of plasma membrane GO:0009897 9.26 CD79A CD79B IGHM IGLL1
3 immunoglobulin complex, circulating GO:0042571 9.16 IGHM IGLL1
4 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 phagocytosis, recognition GO:0006910 9.43 IGHM IGLL1
5 positive regulation of B cell activation GO:0050871 9.4 IGHM IGLL1
6 B cell receptor signaling pathway GO:0050853 9.35 BTK CD79A CD79B IGHM IGLL1
7 B cell activation GO:0042113 9.33 BLNK BTK CD79A
8 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 immunoglobulin receptor binding GO:0034987 8.96 IGHM IGLL1
2 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 8.62 BLNK PIK3R1

Sources for Agammaglobulinemia, Non-Bruton Type

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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
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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