MCID: AGM004
MIFTS: 37

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 54 60 30 6
Autosomal Agammaglobulinemia 54 60

Characteristics:

Orphanet epidemiological data:

60
autosomal agammaglobulinemia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare immunological diseases


Summaries for Agammaglobulinemia, Non-Bruton Type

NIH Rare Diseases : 54 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 mohr-tranebjaerg syndrome and agammaglobulinemia 1, autosomal recessive, and has symptoms including diarrhea 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 chronic otitis media and recurrent respiratory infections

Related Diseases for Agammaglobulinemia, Non-Bruton Type

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
2 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
3 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
4 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
5 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
6 sinusitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000246
7 diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002014
8 conjunctivitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000509
9 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
10 agammaglobulinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004432
11 cough 60 33 hallmark (90%) Very frequent (99-80%) HP:0012735
12 recurrent skin infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0001581
13 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
14 arthritis 60 33 frequent (33%) Frequent (79-30%) HP:0001369
15 osteomyelitis 60 33 frequent (33%) Frequent (79-30%) HP:0002754
16 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
17 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
18 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
19 dehydration 60 33 occasional (7.5%) Occasional (29-5%) HP:0001944
20 hepatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012115
21 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
22 external ear malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0008572
23 meningitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001287
24 neutropenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001875
25 cellulitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100658
26 sepsis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100806
27 bronchiectasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002110
28 verrucae 60 33 occasional (7.5%) Occasional (29-5%) HP:0200043
29 recurrent infections 60 Very frequent (99-80%)

UMLS symptoms related to Agammaglobulinemia, Non-Bruton Type:


diarrhea

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

47
# 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 30 IGHM

Anatomical Context for Agammaglobulinemia, Non-Bruton Type

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

42
Skin, Lung, B Cells

Publications for Agammaglobulinemia, Non-Bruton Type

Articles related to Agammaglobulinemia, Non-Bruton Type:

# Title Authors Year
1
Clinical and molecular analysis of patients with defects in micro heavy chain gene. ( 12370281 )
2002
2
Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. ( 8890099 )
1996
3
Complete nucleotide sequence of the membrane form of the human IgM heavy chain. ( 2115996 )
1990

Variations for Agammaglobulinemia, Non-Bruton Type

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

6 (show all 47)
# 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 NC_000014.9: g.105855107C> T single nucleotide variant Pathogenic rs281865422 GRCh38 Chromosome 14, 105855107: 105855107
12 IGHM NC_000014.9: g.105855107C> T single nucleotide variant Pathogenic rs281865422 GRCh37 Chromosome 14, 106321212: 106321212
13 IGHM IGHM, 2-BP DEL, AA deletion Pathogenic
14 IGHM IGHM, 75-KB DEL deletion Pathogenic
15 IGHM IGHM, IVS4AS, G-A, -1 single nucleotide variant Pathogenic
16 IGHM IGHM, CYS412GLY undetermined variant Pathogenic
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 rs1555976766 GRCh38 Chromosome X, 101349919: 101349919
21 BTK NM_000061.2(BTK): c.1946delG (p.Ser649Thrfs) deletion Pathogenic rs1555976766 GRCh37 Chromosome X, 100604907: 100604907
22 BTK NM_000061.2(BTK): c.1706T> C (p.Leu569Pro) single nucleotide variant Pathogenic rs1555977461 GRCh38 Chromosome X, 101353914: 101353914
23 BTK NM_000061.2(BTK): c.1706T> C (p.Leu569Pro) single nucleotide variant Pathogenic rs1555977461 GRCh37 Chromosome X, 100608902: 100608902
24 BTK NM_000061.2(BTK): c.1630_1631+3delinsGAAA indel Pathogenic rs1555977580 GRCh38 Chromosome X, 101354627: 101354631
25 BTK NM_000061.2(BTK): c.1630_1631+3delinsGAAA indel Pathogenic rs1555977580 GRCh37 Chromosome X, 100609615: 100609619
26 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic rs1555977592 GRCh37 Chromosome X, 100609665: 100609668
27 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic rs1555977592 GRCh38 Chromosome X, 101354677: 101354680
28 BTK NM_000061.2(BTK): c.1567-2A> T single nucleotide variant Pathogenic rs1555977598 GRCh38 Chromosome X, 101354696: 101354696
29 BTK NM_000061.2(BTK): c.1567-2A> T single nucleotide variant Pathogenic rs1555977598 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 rs1555978024 GRCh38 Chromosome X, 101357570: 101357570
33 BTK NM_000061.2(BTK): c.1116G> C (p.Arg372Ser) single nucleotide variant Pathogenic rs1555978024 GRCh37 Chromosome X, 100612558: 100612558
34 BTK NM_000061.2(BTK): c.953C> T (p.Ser318Phe) single nucleotide variant Pathogenic rs1555978197 GRCh38 Chromosome X, 101358638: 101358638
35 BTK NM_000061.2(BTK): c.953C> T (p.Ser318Phe) single nucleotide variant Pathogenic rs1555978197 GRCh37 Chromosome X, 100613626: 100613626
36 BTK NM_000061.2(BTK): c.863G> A (p.Arg288Gln) single nucleotide variant Pathogenic rs1555978277 GRCh38 Chromosome X, 101359324: 101359324
37 BTK NM_000061.2(BTK): c.863G> A (p.Arg288Gln) single nucleotide variant Pathogenic rs1555978277 GRCh37 Chromosome X, 100614312: 100614312
38 BTK NM_000061.2(BTK): c.435C> A (p.Cys145Ter) single nucleotide variant Pathogenic rs1555978891 GRCh38 Chromosome X, 101362646: 101362646
39 BTK NM_000061.2(BTK): c.435C> A (p.Cys145Ter) single nucleotide variant Pathogenic rs1555978891 GRCh37 Chromosome X, 100617634: 100617634
40 BTK NM_000061.2(BTK): c.371G> A (p.Trp124Ter) single nucleotide variant Likely pathogenic rs1555980049 GRCh38 Chromosome X, 101370018: 101370018
41 BTK NM_000061.2(BTK): c.371G> A (p.Trp124Ter) single nucleotide variant Likely pathogenic rs1555980049 GRCh37 Chromosome X, 100625006: 100625006
42 BTK NM_000061.2(BTK): c.161delG (p.Gly54Valfs) deletion Pathogenic rs1555980799 GRCh37 Chromosome X, 100629603: 100629603
43 BTK NM_000061.2(BTK): c.161delG (p.Gly54Valfs) deletion Pathogenic rs1555980799 GRCh38 Chromosome X, 101374615: 101374615
44 BTK NM_000061.2(BTK): c.141+3_141+6del deletion Pathogenic rs1555980866 GRCh38 Chromosome X, 101375138: 101375141
45 BTK NM_000061.2(BTK): c.141+3_141+6del deletion Pathogenic rs1555980866 GRCh37 Chromosome X, 100630126: 100630129
46 CD79A NM_001783.3(CD79A): c.419C> T (p.Thr140Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 41879574: 41879574
47 CD79A NM_001783.3(CD79A): c.419C> T (p.Thr140Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 42383644: 42383644

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
13.13 BLNK BTK CD79A CD79B PIK3R1
2
Show member pathways
12.91 BLNK BTK CD79A CD79B PIK3R1
3
Show member pathways
12.77 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 12.27 BLNK BTK CD79A TCF3
8
Show member pathways
12.27 BLNK BTK CD79A CD79B IGHM PIK3R1
9
Show member pathways
12.14 BLNK BTK CD79A CD79B PIK3R1
10
Show member pathways
11.95 BLNK BTK PIK3R1
11 11.78 BLNK BTK PIK3R1
12
Show member pathways
11.47 BLNK BTK CD79A CD79B PIK3R1
13 11.16 BTK PIK3R1
14
Show member pathways
11.05 BLNK BTK CD79A CD79B PIK3R1
15 11.02 BLNK BTK CD79A IGLL1
16 10.77 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 membrane GO:0016020 9.81 BLNK BTK CD79A CD79B IGHM IGLL1
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 9.67 BTK CD79A CD79B IGHM
2 adaptive immune response GO:0002250 9.56 BTK CD79A CD79B IGHM
3 leukocyte migration GO:0050900 9.5 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....