MCID: AGM004
MIFTS: 39

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 52 58 29 6
Autosomal Agammaglobulinemia 52 58

Characteristics:

Orphanet epidemiological data:

58
autosomal agammaglobulinemia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Agammaglobulinemia, Non-Bruton Type

NIH Rare Diseases : 52 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 immunodeficiency with hyper-igm, type 1 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 and lung, 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:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
5 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
6 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
7 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
8 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
9 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
10 conjunctivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000509
11 agammaglobulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004432
12 recurrent skin infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0001581
13 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
14 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
15 osteomyelitis 58 31 frequent (33%) Frequent (79-30%) HP:0002754
16 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
17 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
18 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
19 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
20 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
21 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
22 external ear malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008572
23 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
24 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
25 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
26 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
27 bronchiectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002110
28 verrucae 58 31 occasional (7.5%) Occasional (29-5%) HP:0200043
29 recurrent infections 58 Very frequent (99-80%)

UMLS symptoms related to Agammaglobulinemia, Non-Bruton Type:


diarrhea

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

45
# 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:

40
Skin, Lung

Publications for Agammaglobulinemia, Non-Bruton Type

Articles related to Agammaglobulinemia, Non-Bruton Type:

# Title Authors PMID Year
1
[Primary immunodeficiencies. Clinical features and variant forms]. 61
11434882 2001
2
The molecular basis and treatment of primary immunodeficiency disorders. 61
9425589 1997

Variations for Agammaglobulinemia, Non-Bruton Type

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

6 (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BTK NM_000061.2(BTK):c.1574G>A (p.Arg525Gln)SNV Pathogenic 11342 rs128620183 X:100609675-100609675 X:101354687-101354687
2 BTK NM_000061.2(BTK):c.83G>A (p.Arg28His)SNV Pathogenic 11348 rs128620185 X:100630190-100630190 X:101375202-101375202
3 BTK NM_000061.2(BTK):c.763C>T (p.Arg255Ter)SNV Pathogenic 11363 rs128621193 X:100615569-100615569 X:101360581-101360581
4 BTK NM_000061.2(BTK):c.1558C>T (p.Arg520Ter)SNV Pathogenic 11377 rs128621201 X:100611048-100611048 X:101356060-101356060
5 BTK NM_000061.2(BTK):c.1684C>T (p.Arg562Trp)SNV Pathogenic 11383 rs128621204 X:100608924-100608924 X:101353936-101353936
6 IGHM NC_000014.8:g.106321212C>TSNV Pathogenic 14813 rs281865422 14:106321212-106321212 14:105855107-105855107
7 IGHM IGHM, 75-KB DELdeletion Pathogenic 14809
8 IGHM IGHM, IVS4AS, G-A, -1SNV Pathogenic 14810
9 IGHM IGHM, CYS412GLYundetermined variant Pathogenic 14811
10 IGHM IGHM, 2-BP DEL, AAdeletion Pathogenic 14812
11 IGHM X57331.1:g.275C>ASNV Pathogenic 427234
12 BTK NM_000061.2(BTK):c.1946del (p.Ser649fs)deletion Pathogenic 492821 rs1555976766 X:100604907-100604907 X:101349919-101349919
13 BTK NM_000061.2(BTK):c.1706T>C (p.Leu569Pro)SNV Pathogenic 492820 rs1555977461 X:100608902-100608902 X:101353914-101353914
14 BTK NM_000061.2(BTK):c.1630_1631+3delinsGAAAindel Pathogenic 492819 rs1555977580 X:100609615-100609619 X:101354627-101354631
15 BTK NM_000061.2(BTK):c.1581_1584del (p.Cys527fs)deletion Pathogenic 492818 rs1555977592 X:100609665-100609668 X:101354677-101354680
16 BTK NM_000061.2(BTK):c.1567-2A>TSNV Pathogenic 492817 rs1555977598 X:100609684-100609684 X:101354696-101354696
17 BTK NM_000061.2(BTK):c.1116G>C (p.Arg372Ser)SNV Pathogenic 492815 rs1555978024 X:100612558-100612558 X:101357570-101357570
18 BTK NM_000061.2(BTK):c.953C>T (p.Ser318Phe)SNV Pathogenic 492814 rs1555978197 X:100613626-100613626 X:101358638-101358638
19 BTK NM_000061.2(BTK):c.863G>A (p.Arg288Gln)SNV Pathogenic 492813 rs1555978277 X:100614312-100614312 X:101359324-101359324
20 BTK NM_000061.2(BTK):c.435C>A (p.Cys145Ter)SNV Pathogenic 492812 rs1555978891 X:100617634-100617634 X:101362646-101362646
21 BTK NM_000061.2(BTK):c.161del (p.Gly54fs)deletion Pathogenic 492810 rs1555980799 X:100629603-100629603 X:101374615-101374615
22 BTK NM_000061.2(BTK):c.141+3_141+6deldeletion Pathogenic 492809 rs1555980866 X:100630126-100630129 X:101375138-101375141
23 BTK NM_000061.2(BTK):c.371G>A (p.Trp124Ter)SNV Likely pathogenic 492811 rs1555980049 X:100625006-100625006 X:101370018-101370018
24 BTK NM_000061.2(BTK):c.1475G>A (p.Arg492His)SNV Uncertain significance 492816 rs782338603 X:100611131-100611131 X:101356143-101356143
25 CD79A NM_001783.3(CD79A):c.419C>T (p.Thr140Ile)SNV Uncertain significance 587546 19:42383644-42383644 19:41879574-41879574
26 IGHM NC_000014.8:g.106320573A>CSNV not provided 156278 rs267606871 14:106320573-106320573 14:105854468-105854468

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 PIK3R1 CD79B CD79A BTK BLNK
2
Show member pathways
12.91 PIK3R1 CD79B CD79A BTK BLNK
3
Show member pathways
12.77 PIK3R1 CD79B CD79A BTK BLNK
4
Show member pathways
12.61 PIK3R1 IGHM IGH CD79B CD79A BTK
5
Show member pathways
12.47 PIK3R1 CD79B CD79A BTK BLNK
6 12.27 TCF3 CD79A BTK BLNK
7
Show member pathways
12.19 PIK3R1 CD79B CD79A BTK BLNK
8
Show member pathways
12.06 PIK3R1 IGHM IGH CD79B CD79A BTK
9
Show member pathways
11.95 PIK3R1 BTK BLNK
10 11.78 PIK3R1 BTK BLNK
11
Show member pathways
11.77 PIK3R1 CD79B CD79A BTK BLNK
12
Show member pathways
11.7 PIK3R1 IGHM IGH CD79B CD79A BTK
13
Show member pathways
11.58 PIK3R1 CD79B CD79A BTK BLNK
14 11.2 IGLL1 CD79A BTK BLNK
15 11.16 PIK3R1 BTK
16 10.77 PIK3R1 BLNK

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 external side of plasma membrane GO:0009897 9.26 IGLL1 IGHM CD79B CD79A
2 B cell receptor complex GO:0019815 8.62 CD79B CD79A

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 IGHM CD79B CD79A BTK
2 adaptive immune response GO:0002250 9.56 IGHM CD79B CD79A BTK
3 leukocyte migration GO:0050900 9.5 PIK3R1 IGLL1 IGHM
4 B cell receptor signaling pathway GO:0050853 9.35 IGLL1 IGHM CD79B CD79A BTK
5 B cell activation GO:0042113 9.33 CD79A BTK BLNK
6 B cell differentiation GO:0030183 9.02 TCF3 PIK3R1 CD79B CD79A BLNK

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 PIK3R1 BLNK

Sources for Agammaglobulinemia, Non-Bruton Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....