AGM6
MCID: AGM020
MIFTS: 26

Agammaglobulinemia 6, Autosomal Recessive (AGM6)

Categories: Blood diseases, Cardiovascular 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 72 29 6 70
Agammaglobulinemia 6 57 13
Agm6 57 72
Agammaglobulinemia, Autosomal Recessive, Due to Cd79b Defect 57
Agammaglobulinemia Autosomal Recessive Due to Cd79b Defect 72
Agammaglobulinemia, Type 6, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
agammaglobulinemia 6, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 612692
OMIM Phenotypic Series 57 PS601495
MeSH 44 D000361
MedGen 41 C3150207
UMLS 70 C3150207

Summaries for Agammaglobulinemia 6, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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, also known as agammaglobulinemia 6, is related to isolated growth hormone deficiency, and has symptoms including diarrhea An important gene associated with Agammaglobulinemia 6, Autosomal Recessive is CD79B (CD79b Molecule). Affiliated tissues include b cells, t cells and bone marrow, and related phenotypes are recurrent otitis media and conjunctivitis

More information from OMIM: 612692 PS601495

Related Diseases for Agammaglobulinemia 6, 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 6, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency 9.5 GH-LCR CD79B

Symptoms & Phenotypes for Agammaglobulinemia 6, Autosomal Recessive

Human phenotypes related to Agammaglobulinemia 6, Autosomal Recessive:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 HP:0000403
2 conjunctivitis 31 HP:0000509
3 agammaglobulinemia 31 HP:0004432
4 recurrent pneumonia 31 HP:0006532
5 diarrhea 31 HP:0002014
6 recurrent bronchitis 31 HP:0002837
7 recurrent bacterial infections 31 HP:0002718
8 chronic sinusitis 31 HP:0011109

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
agammaglobulinemia
recurrent bacterial infections
absent or severely reduced numbers of b cells
hypogammaglobulinemia, profound
decreased or absent pre-b cells
more
Respiratory:
respiratory infections, recurrent

Respiratory Airways:
bronchitis, recurrent

Head And Neck Head:
sinusitis, chronic

Abdomen Gastrointestinal:
diarrhea
enteritis

Head And Neck Ears:
otitis media, recurrent

Head And Neck Eyes:
conjunctivitis, recurrent

Clinical features from OMIM®:

612692 (Updated 20-May-2021)

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:

40
B Cells, T Cells, Bone Marrow

Publications for Agammaglobulinemia 6, Autosomal Recessive

Articles related to Agammaglobulinemia 6, Autosomal Recessive:

# Title Authors PMID Year
1
Mutations of the Igbeta gene cause agammaglobulinemia in man. 6 57
17709424 2007
2
Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development. 6 57
17675462 2007
3
[Phenotyping of blood and bone marrow lymphocytes in children with primary immunologic deficiency]. 61
2373347 1990

Variations for Agammaglobulinemia 6, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 6, Autosomal Recessive:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD79B , GH-LCR NM_000626.4(CD79B):c.409G>A (p.Gly137Ser) SNV Pathogenic 14802 rs121912424 GRCh37: 17:62007455-62007455
GRCh38: 17:63930095-63930095
2 CD79B , GH-LCR NM_000626.4(CD79B):c.238C>T (p.Gln80Ter) SNV Pathogenic 14803 rs267606711 GRCh37: 17:62007626-62007626
GRCh38: 17:63930266-63930266
3 CD79B , GH-LCR NM_000626.4(CD79B):c.323C>T (p.Thr108Ile) SNV Uncertain significance 565587 rs763307022 GRCh37: 17:62007541-62007541
GRCh38: 17:63930181-63930181
4 CD79B , GH-LCR NM_000626.4(CD79B):c.250G>A (p.Glu84Lys) SNV Uncertain significance 567186 rs373082402 GRCh37: 17:62007614-62007614
GRCh38: 17:63930254-63930254
5 CD79B , GH-LCR NM_000626.4(CD79B):c.422G>A (p.Arg141Gln) SNV Uncertain significance 573508 rs777737578 GRCh37: 17:62007442-62007442
GRCh38: 17:63930082-63930082
6 CD79B , GH-LCR NM_000626.4(CD79B):c.414A>G (p.Thr138=) SNV Uncertain significance 626079 rs1567810051 GRCh37: 17:62007450-62007450
GRCh38: 17:63930090-63930090
7 CD79B , GH-LCR NM_000626.4(CD79B):c.218A>C (p.Asn73Thr) SNV Uncertain significance 133838 rs200126941 GRCh37: 17:62007646-62007646
GRCh38: 17:63930286-63930286
8 CD79B , GH-LCR NM_000626.4(CD79B):c.635C>T (p.Thr212Met) SNV Uncertain significance 643205 rs149266494 GRCh37: 17:62006641-62006641
GRCh38: 17:63929281-63929281
9 CD79B , GH-LCR NM_000626.4(CD79B):c.338G>A (p.Arg113Gln) SNV Uncertain significance 644087 rs147236129 GRCh37: 17:62007526-62007526
GRCh38: 17:63930166-63930166
10 CD79B , GH-LCR NM_000626.4(CD79B):c.286A>G (p.Met96Val) SNV Uncertain significance 644557 rs201757742 GRCh37: 17:62007578-62007578
GRCh38: 17:63930218-63930218
11 CD79B , GH-LCR NM_000626.4(CD79B):c.362_366delinsGC (p.Phe121del) Indel Uncertain significance 661158 rs1598400314 GRCh37: 17:62007498-62007502
GRCh38: 17:63930138-63930142
12 CD79B , GH-LCR NM_000626.4(CD79B):c.547A>G (p.Lys183Glu) SNV Uncertain significance 837161 GRCh37: 17:62007132-62007132
GRCh38: 17:63929772-63929772
13 CD79B , GH-LCR NM_000626.4(CD79B):c.272T>C (p.Leu91Pro) SNV Uncertain significance 847658 GRCh37: 17:62007592-62007592
GRCh38: 17:63930232-63930232
14 CD79B , GH-LCR NM_000626.4(CD79B):c.47C>T (p.Ala16Val) SNV Uncertain significance 849963 GRCh37: 17:62009575-62009575
GRCh38: 17:63932215-63932215
15 CD79B , GH-LCR NM_000626.4(CD79B):c.14C>T (p.Ala5Val) SNV Uncertain significance 935788 GRCh37: 17:62009608-62009608
GRCh38: 17:63932248-63932248
16 CD79B , GH-LCR NM_000626.4(CD79B):c.557G>A (p.Ser186Asn) SNV Uncertain significance 945679 GRCh37: 17:62006828-62006828
GRCh38: 17:63929468-63929468
17 CD79B , GH-LCR NM_000626.4(CD79B):c.646G>C (p.Gly216Arg) SNV Uncertain significance 955155 GRCh37: 17:62006630-62006630
GRCh38: 17:63929270-63929270
18 CD79B , GH-LCR NM_000626.4(CD79B):c.92C>G (p.Ser31Trp) SNV Uncertain significance 968178 GRCh37: 17:62008721-62008721
GRCh38: 17:63931361-63931361
19 CD79B , GH-LCR NM_000626.4(CD79B):c.341T>G (p.Phe114Cys) SNV Uncertain significance 1005019 GRCh37: 17:62007523-62007523
GRCh38: 17:63930163-63930163
20 CD79B , GH-LCR NM_000626.4(CD79B):c.542T>A (p.Leu181Gln) SNV Uncertain significance 1019051 GRCh37: 17:62007137-62007137
GRCh38: 17:63929777-63929777
21 CD79B , GH-LCR NM_000626.4(CD79B):c.93GGA[1] (p.Glu32del) Microsatellite Uncertain significance 1038551 GRCh37: 17:62008715-62008717
GRCh38: 17:63931355-63931357
22 CD79B , GH-LCR NM_000626.4(CD79B):c.131C>T (p.Ser44Leu) SNV Uncertain significance 1046774 GRCh37: 17:62007733-62007733
GRCh38: 17:63930373-63930373
23 CD79B , GH-LCR NM_000626.4(CD79B):c.106C>T (p.Arg36Trp) SNV Uncertain significance 1051842 GRCh37: 17:62008707-62008707
GRCh38: 17:63931347-63931347
24 CD79B , GH-LCR NM_000626.4(CD79B):c.592-6C>G SNV Uncertain significance 538692 rs372665115 GRCh37: 17:62006690-62006690
GRCh38: 17:63929330-63929330
25 CD79B , GH-LCR NM_000626.4(CD79B):c.208G>A (p.Ala70Thr) SNV Uncertain significance 641789 rs912718113 GRCh37: 17:62007656-62007656
GRCh38: 17:63930296-63930296
26 CD79B , GH-LCR NM_000626.4(CD79B):c.381C>T (p.Asn127=) SNV Likely benign 538693 rs1555598971 GRCh37: 17:62007483-62007483
GRCh38: 17:63930123-63930123
27 CD79B , GH-LCR NM_000626.4(CD79B):c.48G>A (p.Ala16=) SNV Likely benign 712936 rs758062682 GRCh37: 17:62009574-62009574
GRCh38: 17:63932214-63932214
28 CD79B , GH-LCR NM_000626.4(CD79B):c.67+10C>A SNV Likely benign 716205 rs112931479 GRCh37: 17:62009545-62009545
GRCh38: 17:63932185-63932185
29 CD79B , GH-LCR NM_000626.4(CD79B):c.68-9A>G SNV Likely benign 471351 rs374896622 GRCh37: 17:62008754-62008754
GRCh38: 17:63931394-63931394
30 CD79B , GH-LCR NM_000626.4(CD79B):c.431-4G>A SNV Likely benign 742165 rs201051431 GRCh37: 17:62007252-62007252
GRCh38: 17:63929892-63929892
31 CD79B , GH-LCR NM_000626.4(CD79B):c.303C>T (p.Asn101=) SNV Likely benign 742724 rs115494685 GRCh37: 17:62007561-62007561
GRCh38: 17:63930201-63930201
32 CD79B , GH-LCR NM_000626.4(CD79B):c.645A>G (p.Thr215=) SNV Likely benign 773320 rs375009834 GRCh37: 17:62006631-62006631
GRCh38: 17:63929271-63929271
33 CD79B , GH-LCR NM_000626.4(CD79B):c.431-3C>T SNV Likely benign 791744 rs764645960 GRCh37: 17:62007251-62007251
GRCh38: 17:63929891-63929891
34 CD79B , GH-LCR NM_000626.4(CD79B):c.312C>T (p.Leu104=) SNV Benign 471350 rs116625909 GRCh37: 17:62007552-62007552
GRCh38: 17:63930192-63930192
35 CD79B , GH-LCR NM_000626.4(CD79B):c.102G>C (p.Arg34=) SNV Benign 723443 rs549278202 GRCh37: 17:62008711-62008711
GRCh38: 17:63931351-63931351

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

72
# Symbol AA change Variation ID SNP ID
1 CD79B p.Gly137Ser VAR_057833 rs121912424

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

3 CDC
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