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 56 73 29 6 71
Agammaglobulinemia 3 56 13
Agm3 56 73
Agammaglobulinemia, Autosomal Recessive, Due to Cd79a Defect 56
Agammaglobulinemia Autosomal Recessive Due to Cd79a Defect 73
Agammaglobulinemia, Type 3, Autosomal Recessive 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
agammaglobulinemia 3, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 613501
OMIM Phenotypic Series 56 PS601495
MeSH 43 D000361
MedGen 41 C3150751
UMLS 71 C3150751

Summaries for Agammaglobulinemia 3, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 neutropenia 31 occasional (7.5%) HP:0001875
2 failure to thrive 31 HP:0001508
3 recurrent otitis media 31 HP:0000403
4 diarrhea 31 HP:0002014
5 agammaglobulinemia 31 HP:0004432
6 recurrent bacterial infections 31 HP:0002718
7 recurrent bronchitis 31 HP:0002837

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
11920841 2002
2
Mutations in Igalpha (CD79a) result in a complete block in B-cell development. 56 6
10525050 1999
3
New M+, M3+-arsenates - the framework structures of AgM3+(HAsO4)2 (M3+ = Al, Ga) and M+GaAs2O7 (M+ = Na, Ag). 61
28529799 2017
4
Anopheles gambiae Ag55 cell line as a model for Lysinibacillus sphaericus Bin toxin action. 61
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. 61
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. 61
23872242 2013
7
Identification and characterization of the receptor for the Bacillus sphaericus binary toxin in the malaria vector mosquito, Anopheles gambiae. 61
18086545 2008
8
Activity of non-nucleoside reverse transcriptase inhibitors against HIV-2 and SIV. 61
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. 61
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. 61
7680476 1993

Variations for Agammaglobulinemia 3, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 3, Autosomal Recessive:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD79A NM_021601.4(CD79A):c.266-2A>GSNV Pathogenic 17706 19:42383603-42383603 19:41879533-41879533
2 CD79A NM_021601.4(CD79A):c.265+115G>ASNV Pathogenic 17707 19:42383360-42383360 19:41879290-41879290
3 CD79A NM_001783.3(CD79A):c.198G>A (p.Trp66Ter)SNV Pathogenic 570771 rs1568801716 19:42383178-42383178 19:41879108-41879108
4 CD79A NM_001783.3(CD79A):c.224C>A (p.Thr75Lys)SNV Uncertain significance 569215 rs199967393 19:42383204-42383204 19:41879134-41879134
5 CD79A NM_001783.3(CD79A):c.64T>A (p.Ser22Thr)SNV Uncertain significance 664433 19:42381438-42381438 19:41877368-41877368
6 CD79A NM_001783.3(CD79A):c.188A>G (p.Asn63Ser)SNV Uncertain significance 646670 19:42383168-42383168 19:41879098-41879098
7 CD79A NM_001783.3(CD79A):c.502C>G (p.Arg168Gly)SNV Uncertain significance 577876 rs1555844064 19:42384740-42384740 19:41880673-41880673
8 CD79A NM_001783.3(CD79A):c.269C>T (p.Thr90Met)SNV Uncertain significance 582606 rs137953079 19:42383249-42383249 19:41879179-41879179
9 CD79A NM_001783.3(CD79A):c.258C>A (p.Asp86Glu)SNV Uncertain significance 133832 rs587778166 19:42383238-42383238 19:41879168-41879168
10 CD79A NM_001783.3(CD79A):c.371G>A (p.Arg124His)SNV Uncertain significance 133834 rs144367487 19:42383351-42383351 19:41879281-41879281
11 CD79A NM_001783.3(CD79A):c.593T>C (p.Met198Thr)SNV Uncertain significance 133837 rs532288711 19:42384959-42384959 19:41880892-41880892
12 CD79A NM_001783.3(CD79A):c.370C>T (p.Arg124Cys)SNV Uncertain significance 450253 rs144006380 19:42383350-42383350 19:41879280-41879280
13 CD79A NM_001783.3(CD79A):c.21C>T (p.Val7=)SNV Likely benign 487216 rs782746615 19:42381395-42381395 19:41877325-41877325
14 CD79A NM_001783.3(CD79A):c.534C>T (p.Ala178=)SNV Likely benign 487217 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
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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