AGM3
MCID: AGM022
MIFTS: 26

Agammaglobulinemia 3, Autosomal Recessive (AGM3)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Agammaglobulinemia 3, Autosomal Recessive

MalaCards integrated aliases for Agammaglobulinemia 3, Autosomal Recessive:

Name: Agammaglobulinemia 3, Autosomal Recessive 57 74 29 6 72
Agammaglobulinemia 3 57 13
Agm3 57 74
Agammaglobulinemia, Autosomal Recessive, Due to Cd79a Defect 57
Agammaglobulinemia Autosomal Recessive Due to Cd79a Defect 74
Agammaglobulinemia, Type 3, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first month of life
two unrelated patients have been reported (as of august 2010)


HPO:

32
agammaglobulinemia 3, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D000361
MedGen 42 C3150751
UMLS 72 C3150751

Summaries for Agammaglobulinemia 3, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 Agammaglobulinemia 3, autosomal recessive: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

MalaCards based summary : Agammaglobulinemia 3, Autosomal Recessive, also known as agammaglobulinemia 3, is related to immune deficiency disease and human immunodeficiency virus type 1, and has symptoms including diarrhea An important gene associated with Agammaglobulinemia 3, Autosomal Recessive is CD79A (CD79a Molecule). Affiliated tissues include b cells, lymph node and t cells, and related phenotypes are neutropenia and failure to thrive

More information from OMIM: 613501 PS601495

Related Diseases for Agammaglobulinemia 3, Autosomal Recessive

Diseases in the Agammaglobulinemia family:

Agammaglobulinemia 1, Autosomal Recessive Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia 2, Autosomal Recessive Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia 4, Autosomal Recessive Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia 7, Autosomal Recessive Agammaglobulinemia 8, Autosomal Dominant
Primary Agammaglobulinemia

Diseases related to Agammaglobulinemia 3, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.2
2 human immunodeficiency virus type 1 10.2

Symptoms & Phenotypes for Agammaglobulinemia 3, Autosomal Recessive

Human phenotypes related to Agammaglobulinemia 3, Autosomal Recessive:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 neutropenia 32 occasional (7.5%) HP:0001875
2 failure to thrive 32 HP:0001508
3 recurrent otitis media 32 HP:0000403
4 diarrhea 32 HP:0002014
5 agammaglobulinemia 32 HP:0004432
6 recurrent bacterial infections 32 HP:0002718
7 recurrent bronchitis 32 HP:0002837

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Immunology:
agammaglobulinemia
recurrent bacterial infections
absent or severely reduced numbers of b cells
hypogammaglobulinemia, profound
inability to mount antibody response to antigen
more
Head And Neck Ears:
otitis media, recurrent

Laboratory Abnormalities:
neutropenia (in 1 patient)

Abdomen Gastrointestinal:
diarrhea
enteritis

Respiratory:
respiratory infections, recurrent

Respiratory Airways:
bronchitis, recurrent

Clinical features from OMIM:

613501

UMLS symptoms related to Agammaglobulinemia 3, Autosomal Recessive:


diarrhea

Drugs & Therapeutics for Agammaglobulinemia 3, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia 3, Autosomal Recessive

Genetic Tests for Agammaglobulinemia 3, Autosomal Recessive

Genetic tests related to Agammaglobulinemia 3, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Agammaglobulinemia 3, Autosomal Recessive 29 CD79A

Anatomical Context for Agammaglobulinemia 3, Autosomal Recessive

MalaCards organs/tissues related to Agammaglobulinemia 3, Autosomal Recessive:

41
B Cells, Lymph Node, T Cells

Publications for Agammaglobulinemia 3, Autosomal Recessive

Articles related to Agammaglobulinemia 3, Autosomal Recessive:

# Title Authors PMID Year
1
Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. 8 71
11920841 2002
2
Mutations in Igalpha (CD79a) result in a complete block in B-cell development. 8 71
10525050 1999
3
New M+, M3+-arsenates - the framework structures of AgM3+(HAsO4)2 (M3+ = Al, Ga) and M+GaAs2O7 (M+ = Na, Ag). 38
28529799 2017
4
Anopheles gambiae Ag55 cell line as a model for Lysinibacillus sphaericus Bin toxin action. 38
26408969 2015
5
Chitosan/DsiRNA nanoparticle targeting identifies AgCad1 cadherin in Anopheles gambiae larvae as an in vivo receptor of Cry11Ba toxin of Bacillus thuringiensis subsp. jegathesan. 38
25758367 2015
6
Analyses of α-amylase and α-glucosidase in the malaria vector mosquito, Anopheles gambiae, as receptors of Cry11Ba toxin of Bacillus thuringiensis subsp. jegathesan. 38
23872242 2013
7
Identification and characterization of the receptor for the Bacillus sphaericus binary toxin in the malaria vector mosquito, Anopheles gambiae. 38
18086545 2008
8
Activity of non-nucleoside reverse transcriptase inhibitors against HIV-2 and SIV. 38
10465070 1999
9
Replication and cytopathogenicity of human immunodeficiency virus type 1 (HIV-1)/simian immunodeficiency virus agm3 chimeric viruses in human and monkey cells: the 5' half of the HIV-1 genome is responsible for virus cytopathogenicity. 38
8887473 1996
10
Potent and highly selective human immunodeficiency virus type 1 (HIV-1) inhibition by a series of alpha-anilinophenylacetamide derivatives targeted at HIV-1 reverse transcriptase. 38
7680476 1993

Variations for Agammaglobulinemia 3, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 3, Autosomal Recessive:

6 (show all 15)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CD79A CD79A, IVS3AS, A-G, -2 single nucleotide variant Pathogenic
2 CD79A CD79A, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
3 CD79A NM_001783.3(CD79A): c.198G> A (p.Trp66Ter) single nucleotide variant Pathogenic 19:42383178-42383178 19:41879108-41879108
4 CD79A NM_001783.3(CD79A): c.419C> A (p.Thr140Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs148797987 19:42383644-42383644 19:41879574-41879574
5 CD79A NM_001783.3(CD79A): c.593T> C (p.Met198Thr) single nucleotide variant Uncertain significance rs532288711 19:42384959-42384959 19:41880892-41880892
6 CD79A NM_001783.3(CD79A): c.502C> G (p.Arg168Gly) single nucleotide variant Uncertain significance 19:42384740-42384740 19:41880673-41880673
7 CD79A NM_001783.3(CD79A): c.269C> T (p.Thr90Met) single nucleotide variant Uncertain significance 19:42383249-42383249 19:41879179-41879179
8 CD79A NM_001783.3(CD79A): c.258C> A (p.Asp86Glu) single nucleotide variant Uncertain significance rs587778166 19:42383238-42383238 19:41879168-41879168
9 CD79A NM_001783.3(CD79A): c.371G> A (p.Arg124His) single nucleotide variant Uncertain significance rs144367487 19:42383351-42383351 19:41879281-41879281
10 CD79A NM_001783.3(CD79A): c.224C> A (p.Thr75Lys) single nucleotide variant Uncertain significance 19:42383204-42383204 19:41879134-41879134
11 CD79A NM_001783.3(CD79A): c.64T> A (p.Ser22Thr) single nucleotide variant Uncertain significance 19:42381438-42381438 19:41877368-41877368
12 CD79A NM_001783.3(CD79A): c.188A> G (p.Asn63Ser) single nucleotide variant Uncertain significance 19:42383168-42383168 19:41879098-41879098
13 CD79A NM_001783.3(CD79A): c.370C> T (p.Arg124Cys) single nucleotide variant Uncertain significance rs144006380 19:42383350-42383350 19:41879280-41879280
14 CD79A NM_001783.3(CD79A): c.21C> T (p.Val7=) single nucleotide variant Likely benign rs782746615 19:42381395-42381395 19:41877325-41877325
15 CD79A NM_001783.3(CD79A): c.534C> T (p.Ala178=) single nucleotide variant Likely benign rs367608135 19:42384772-42384772 19:41880705-41880705

Expression for Agammaglobulinemia 3, Autosomal Recessive

Search GEO for disease gene expression data for Agammaglobulinemia 3, Autosomal Recessive.

Pathways for Agammaglobulinemia 3, Autosomal Recessive

GO Terms for Agammaglobulinemia 3, Autosomal Recessive

Sources for Agammaglobulinemia 3, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....