AGM6
MCID: AGM020
MIFTS: 20

Agammaglobulinemia 6, Autosomal Recessive (AGM6)

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

Aliases & Classifications for Agammaglobulinemia 6, Autosomal Recessive

MalaCards integrated aliases for Agammaglobulinemia 6, Autosomal Recessive:

Name: Agammaglobulinemia 6, Autosomal Recessive 57 75 29 6 73
Agammaglobulinemia 6 57 13
Agm6 57 75
Agammaglobulinemia, Autosomal Recessive, Due to Cd79b Defect 57
Agammaglobulinemia Autosomal Recessive Due to Cd79b Defect 75
Agammaglobulinemia, Type 6, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
agammaglobulinemia 6, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Agammaglobulinemia 6, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Agammaglobulinemia 6, 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 6, Autosomal Recessive, is also known as agammaglobulinemia 6, and has symptoms including diarrhea An important gene associated with Agammaglobulinemia 6, Autosomal Recessive is CD79B (CD79b Molecule). Affiliated tissues include b cells and t cells, and related phenotypes are recurrent otitis media and diarrhea

Description from OMIM: 612692

Related Diseases for Agammaglobulinemia 6, Autosomal Recessive

Symptoms & Phenotypes for Agammaglobulinemia 6, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
diarrhea
enteritis

Respiratory:
respiratory infections, recurrent

Respiratory Airways:
bronchitis, recurrent

Head And Neck Head:
sinusitis, chronic

Immunology:
agammaglobulinemia
recurrent bacterial infections
absent or severely reduced numbers of b cells
hypogammaglobulinemia, profound
decreased or absent pre-b cells
more
Head And Neck Ears:
otitis media, recurrent

Head And Neck Eyes:
conjunctivitis, recurrent


Clinical features from OMIM:

612692

Human phenotypes related to Agammaglobulinemia 6, Autosomal Recessive:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 diarrhea 32 HP:0002014
3 conjunctivitis 32 HP:0000509
4 agammaglobulinemia 32 HP:0004432
5 recurrent pneumonia 32 HP:0006532
6 recurrent bacterial infections 32 HP:0002718
7 chronic sinusitis 32 HP:0011109
8 recurrent bronchitis 32 HP:0002837

UMLS symptoms related to Agammaglobulinemia 6, Autosomal Recessive:


diarrhea

Drugs & Therapeutics for Agammaglobulinemia 6, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia 6, Autosomal Recessive

Genetic Tests for Agammaglobulinemia 6, Autosomal Recessive

Genetic tests related to Agammaglobulinemia 6, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Agammaglobulinemia 6, Autosomal Recessive 29 CD79B

Anatomical Context for Agammaglobulinemia 6, Autosomal Recessive

MalaCards organs/tissues related to Agammaglobulinemia 6, Autosomal Recessive:

41
B Cells, T Cells

Publications for Agammaglobulinemia 6, Autosomal Recessive

Variations for Agammaglobulinemia 6, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Agammaglobulinemia 6, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 CD79B p.Gly137Ser VAR_057833 rs121912424

ClinVar genetic disease variations for Agammaglobulinemia 6, Autosomal Recessive:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD79B NM_001039933.2(CD79B): c.412G> A (p.Gly138Ser) single nucleotide variant Pathogenic rs121912424 GRCh37 Chromosome 17, 62007455: 62007455
2 CD79B NM_001039933.2(CD79B): c.412G> A (p.Gly138Ser) single nucleotide variant Pathogenic rs121912424 GRCh38 Chromosome 17, 63930095: 63930095
3 CD79B NM_001039933.2(CD79B): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic rs267606711 GRCh37 Chromosome 17, 62007626: 62007626
4 CD79B NM_001039933.2(CD79B): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic rs267606711 GRCh38 Chromosome 17, 63930266: 63930266
5 CD79B NM_000626.3(CD79B): c.68-9A> G single nucleotide variant Likely benign rs374896622 GRCh37 Chromosome 17, 62008754: 62008754
6 CD79B NM_000626.3(CD79B): c.68-9A> G single nucleotide variant Likely benign rs374896622 GRCh38 Chromosome 17, 63931394: 63931394
7 CD79B NM_000626.3(CD79B): c.312C> T (p.Leu104=) single nucleotide variant Benign rs116625909 GRCh37 Chromosome 17, 62007552: 62007552
8 CD79B NM_000626.3(CD79B): c.312C> T (p.Leu104=) single nucleotide variant Benign rs116625909 GRCh38 Chromosome 17, 63930192: 63930192
9 CD79B NM_000626.3(CD79B): c.592-6C> G single nucleotide variant Uncertain significance rs372665115 GRCh38 Chromosome 17, 63929330: 63929330
10 CD79B NM_000626.3(CD79B): c.592-6C> G single nucleotide variant Uncertain significance rs372665115 GRCh37 Chromosome 17, 62006690: 62006690
11 CD79B NM_000626.3(CD79B): c.381C> T (p.Asn127=) single nucleotide variant Likely benign GRCh37 Chromosome 17, 62007483: 62007483
12 CD79B NM_000626.3(CD79B): c.381C> T (p.Asn127=) single nucleotide variant Likely benign GRCh38 Chromosome 17, 63930123: 63930123
13 CD79B NM_000626.3(CD79B): c.422G> A (p.Arg141Gln) single nucleotide variant Uncertain significance rs777737578 GRCh37 Chromosome 17, 62007442: 62007442
14 CD79B NM_000626.3(CD79B): c.422G> A (p.Arg141Gln) single nucleotide variant Uncertain significance rs777737578 GRCh38 Chromosome 17, 63930082: 63930082
15 CD79B NM_000626.3(CD79B): c.323C> T (p.Thr108Ile) single nucleotide variant Uncertain significance rs763307022 GRCh37 Chromosome 17, 62007541: 62007541
16 CD79B NM_000626.3(CD79B): c.323C> T (p.Thr108Ile) single nucleotide variant Uncertain significance rs763307022 GRCh38 Chromosome 17, 63930181: 63930181
17 CD79B NM_000626.3(CD79B): c.250G> A (p.Glu84Lys) single nucleotide variant Uncertain significance rs373082402 GRCh38 Chromosome 17, 63930254: 63930254
18 CD79B NM_000626.3(CD79B): c.250G> A (p.Glu84Lys) single nucleotide variant Uncertain significance rs373082402 GRCh37 Chromosome 17, 62007614: 62007614

Expression for Agammaglobulinemia 6, Autosomal Recessive

Search GEO for disease gene expression data for Agammaglobulinemia 6, Autosomal Recessive.

Pathways for Agammaglobulinemia 6, Autosomal Recessive

GO Terms for Agammaglobulinemia 6, Autosomal Recessive

Sources for Agammaglobulinemia 6, Autosomal Recessive

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