MCID: AGM022
MIFTS: 21

Agammaglobulinemia 3, Autosomal Recessive

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune 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, t cells and lymph node, and related phenotypes are recurrent otitis media and failure to thrive

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 recurrent otitis media 32 HP:0000403
2 failure to thrive 32 HP:0001508
3 neutropenia 32 occasional (7.5%) HP:0001875
4 diarrhea 32 HP:0002014
5 recurrent bacterial infections 32 HP:0002718
6 recurrent bronchitis 32 HP:0002837
7 agammaglobulinemia 32 HP:0004432

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, T Cells, Lymph Node

Publications for Agammaglobulinemia 3, Autosomal Recessive

Variations for Agammaglobulinemia 3, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 3, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
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.21C> T (p.Val7=) single nucleotide variant Likely benign rs782746615 GRCh38 Chromosome 19, 41877325: 41877325
4 CD79A NM_001783.3(CD79A): c.21C> T (p.Val7=) single nucleotide variant Likely benign rs782746615 GRCh37 Chromosome 19, 42381395: 42381395
5 CD79A NM_001783.3(CD79A): c.534C> T (p.Ala178=) single nucleotide variant Likely benign rs367608135 GRCh38 Chromosome 19, 41880705: 41880705
6 CD79A NM_001783.3(CD79A): c.534C> T (p.Ala178=) single nucleotide variant Likely benign rs367608135 GRCh37 Chromosome 19, 42384772: 42384772

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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