MCID: AGM004
MIFTS: 31

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 20 58
Autosomal Agammaglobulinemia 20 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

GARD : 20 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 4, autosomal recessive and testicular lymphoma. An important gene associated with Agammaglobulinemia, Non-Bruton Type is BLNK (B Cell Linker), and among its related pathways/superpathways are IL-2 Pathway and Phospholipase-C Pathway. 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 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
5 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
6 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
7 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
8 conjunctivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000509
9 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
10 agammaglobulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004432
11 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
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 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
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 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
24 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
25 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
26 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
27 verrucae 58 31 occasional (7.5%) Occasional (29-5%) HP:0200043
28 bronchiectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002110
29 recurrent infections 58 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 9.63 BLNK CD79A CD79B LRRC8A PIK3R1 TCF3
2 immune system MP:0005387 9.43 BLNK CD79A CD79B LRRC8A PIK3R1 TCF3
3 neoplasm MP:0002006 8.92 BLNK 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

Anatomical Context for Agammaglobulinemia, Non-Bruton Type

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

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 PIK3R1 CD79B CD79A BLNK
2
Show member pathways
12.67 PIK3R1 CD79B CD79A BLNK
3
Show member pathways
12.47 PIK3R1 IGHM CD79B CD79A
4
Show member pathways
12.37 PIK3R1 CD79B CD79A BLNK
5
Show member pathways
12.21 PIK3R1 IGHM CD79B CD79A BLNK
6 12.19 TCF3 CD79A BLNK
7
Show member pathways
12.06 PIK3R1 CD79B CD79A BLNK
8
Show member pathways
11.89 PIK3R1 IGHM CD79B CD79A BLNK
9
Show member pathways
11.57 PIK3R1 CD79B CD79A BLNK
10 11.08 IGLL1 CD79A BLNK
11
Show member pathways
10.95 PIK3R1 CD79B CD79A BLNK
12 10.71 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 immunoglobulin complex, circulating GO:0042571 9.16 IGLL1 IGHM
3 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 adaptive immune response GO:0002250 9.5 IGHM CD79B CD79A
2 B cell receptor signaling pathway GO:0050853 9.35 IGLL1 IGHM CD79B CD79A BLNK
3 leukocyte migration GO:0050900 9.33 PIK3R1 IGLL1 IGHM
4 B cell activation GO:0042113 9.26 CD79A BLNK
5 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 immunoglobulin receptor binding GO:0034987 8.96 IGLL1 IGHM
2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....