AGM3
MCID: AGM022
MIFTS: 21

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 75 29 6 73
Agammaglobulinemia 3 57 13
Agm3 57 75
Agammaglobulinemia, Autosomal Recessive, Due to Cd79a Defect 57
Agammaglobulinemia Autosomal Recessive Due to Cd79a Defect 75
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:



Summaries for Agammaglobulinemia 3, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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, is also known as agammaglobulinemia 3, 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 failure to thrive and recurrent otitis media

Description from OMIM: 613501

Related Diseases for Agammaglobulinemia 3, Autosomal Recessive

Symptoms & Phenotypes for Agammaglobulinemia 3, Autosomal Recessive

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

Human phenotypes related to Agammaglobulinemia 3, Autosomal Recessive:

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

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

Variations for Agammaglobulinemia 3, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 3, Autosomal Recessive:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD79A CD79A, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
2 CD79A CD79A, IVS3AS, A-G, -2 single nucleotide variant Pathogenic
3 CD79A NM_001783.3(CD79A): c.258C> A (p.Asp86Glu) single nucleotide variant Uncertain significance rs587778166 GRCh37 Chromosome 19, 42383238: 42383238
4 CD79A NM_001783.3(CD79A): c.258C> A (p.Asp86Glu) single nucleotide variant Uncertain significance rs587778166 GRCh38 Chromosome 19, 41879168: 41879168
5 CD79A NM_001783.3(CD79A): c.371G> A (p.Arg124His) single nucleotide variant Uncertain significance rs144367487 GRCh37 Chromosome 19, 42383351: 42383351
6 CD79A NM_001783.3(CD79A): c.371G> A (p.Arg124His) single nucleotide variant Uncertain significance rs144367487 GRCh38 Chromosome 19, 41879281: 41879281
7 CD79A NM_001783.3(CD79A): c.419C> A (p.Thr140Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs148797987 GRCh37 Chromosome 19, 42383644: 42383644
8 CD79A NM_001783.3(CD79A): c.419C> A (p.Thr140Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs148797987 GRCh38 Chromosome 19, 41879574: 41879574
9 CD79A NM_001783.3(CD79A): c.593T> C (p.Met198Thr) single nucleotide variant Uncertain significance rs532288711 GRCh37 Chromosome 19, 42384959: 42384959
10 CD79A NM_001783.3(CD79A): c.593T> C (p.Met198Thr) single nucleotide variant Uncertain significance rs532288711 GRCh38 Chromosome 19, 41880892: 41880892
11 CD79A NM_001783.3(CD79A): c.21C> T (p.Val7=) single nucleotide variant Likely benign rs782746615 GRCh38 Chromosome 19, 41877325: 41877325
12 CD79A NM_001783.3(CD79A): c.21C> T (p.Val7=) single nucleotide variant Likely benign rs782746615 GRCh37 Chromosome 19, 42381395: 42381395
13 CD79A NM_001783.3(CD79A): c.534C> T (p.Ala178=) single nucleotide variant Likely benign rs367608135 GRCh38 Chromosome 19, 41880705: 41880705
14 CD79A NM_001783.3(CD79A): c.534C> T (p.Ala178=) single nucleotide variant Likely benign rs367608135 GRCh37 Chromosome 19, 42384772: 42384772
15 CD79A NM_001783.3(CD79A): c.502C> G (p.Arg168Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 41880673: 41880673
16 CD79A NM_001783.3(CD79A): c.502C> G (p.Arg168Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 42384740: 42384740
17 CD79A NM_001783.3(CD79A): c.269C> T (p.Thr90Met) single nucleotide variant Uncertain significance rs137953079 GRCh38 Chromosome 19, 41879179: 41879179
18 CD79A NM_001783.3(CD79A): c.269C> T (p.Thr90Met) single nucleotide variant Uncertain significance rs137953079 GRCh37 Chromosome 19, 42383249: 42383249
19 CD79A NM_001783.3(CD79A): c.198G> A (p.Trp66Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 42383178: 42383178
20 CD79A NM_001783.3(CD79A): c.198G> A (p.Trp66Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41879108: 41879108
21 CD79A NM_001783.3(CD79A): c.224C> A (p.Thr75Lys) single nucleotide variant Uncertain significance rs199967393 GRCh37 Chromosome 19, 42383204: 42383204
22 CD79A NM_001783.3(CD79A): c.224C> A (p.Thr75Lys) single nucleotide variant Uncertain significance rs199967393 GRCh38 Chromosome 19, 41879134: 41879134

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

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