AGM2
MCID: AGM021
MIFTS: 21

Agammaglobulinemia 2, Autosomal Recessive (AGM2)

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

Aliases & Classifications for Agammaglobulinemia 2, Autosomal Recessive

MalaCards integrated aliases for Agammaglobulinemia 2, Autosomal Recessive:

Name: Agammaglobulinemia 2, Autosomal Recessive 58 76 30 6 74
Agammaglobulinemia 2 58 13
Agm2 58 76
Agammaglobulinemia, Autosomal Recessive, Due to Igll1 Defect 58
Agammaglobulinemia Autosomal Recessive Due to Igll1 Defect 76
Agammaglobulinemia, Type 2, Autosomal Recessive 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (as of curation date may, 2013) onset in infancy


HPO:

33
agammaglobulinemia 2, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613500
MeSH 45 D000361
MedGen 43 C3150750
UMLS 74 C3150750

Summaries for Agammaglobulinemia 2, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 Agammaglobulinemia 2, 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 2, Autosomal Recessive, also known as agammaglobulinemia 2, is related to barth syndrome. An important gene associated with Agammaglobulinemia 2, Autosomal Recessive is IGLL1 (Immunoglobulin Lambda Like Polypeptide 1). Affiliated tissues include b cells and t cells, and related phenotypes are meningitis and agammaglobulinemia

Description from OMIM: 613500

Related Diseases for Agammaglobulinemia 2, 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 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 barth syndrome 11.3

Symptoms & Phenotypes for Agammaglobulinemia 2, Autosomal Recessive

Human phenotypes related to Agammaglobulinemia 2, Autosomal Recessive:

33
# Description HPO Frequency HPO Source Accession
1 meningitis 33 HP:0001287
2 agammaglobulinemia 33 HP:0004432
3 recurrent pneumonia 33 HP:0006532
4 recurrent bacterial infections 33 HP:0002718

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
recurrent respiratory infections

Immunology:
agammaglobulinemia
recurrent bacterial infections
absent or severely reduced numbers of b cells
hypogammaglobulinemia, profound
inability to mount antibody response to antigen
more
Neurologic Central Nervous System:
meningitis

Head And Neck Ears:
otitis, recurrent

Clinical features from OMIM:

613500

Drugs & Therapeutics for Agammaglobulinemia 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia 2, Autosomal Recessive

Genetic Tests for Agammaglobulinemia 2, Autosomal Recessive

Genetic tests related to Agammaglobulinemia 2, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Agammaglobulinemia 2, Autosomal Recessive 30 IGLL1

Anatomical Context for Agammaglobulinemia 2, Autosomal Recessive

MalaCards organs/tissues related to Agammaglobulinemia 2, Autosomal Recessive:

42
B Cells, T Cells

Publications for Agammaglobulinemia 2, Autosomal Recessive

Variations for Agammaglobulinemia 2, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Agammaglobulinemia 2, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 IGLL1 p.Pro142Leu VAR_034869 rs1064422

ClinVar genetic disease variations for Agammaglobulinemia 2, Autosomal Recessive:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 IGLL1 NM_020070.3(IGLL1): c.64C> T (p.Gln22Ter) single nucleotide variant Pathogenic rs74315491 GRCh37 Chromosome 22, 23922314: 23922314
2 IGLL1 NM_020070.3(IGLL1): c.64C> T (p.Gln22Ter) single nucleotide variant Pathogenic rs74315491 GRCh38 Chromosome 22, 23580127: 23580127
3 IGLL1 NM_020070.3(IGLL1): c.425C> T (p.Pro142Leu) single nucleotide variant Likely pathogenic rs1064422 GRCh37 Chromosome 22, 23915670: 23915670
4 IGLL1 NM_020070.3(IGLL1): c.425C> T (p.Pro142Leu) single nucleotide variant Likely pathogenic rs1064422 GRCh38 Chromosome 22, 23573483: 23573483
5 IGLL1 NM_020070.3(IGLL1): c.258delG (p.Gln88Asnfs) deletion Uncertain significance rs532338576 GRCh37 Chromosome 22, 23917218: 23917218
6 IGLL1 NM_020070.3(IGLL1): c.258delG (p.Gln88Asnfs) deletion Uncertain significance rs532338576 GRCh38 Chromosome 22, 23575031: 23575031
7 IGLL1 NM_020070.3(IGLL1): c.485T> A (p.Met162Lys) single nucleotide variant Benign rs111903752 GRCh37 Chromosome 22, 23915610: 23915610
8 IGLL1 NM_020070.3(IGLL1): c.485T> A (p.Met162Lys) single nucleotide variant Benign rs111903752 GRCh38 Chromosome 22, 23573423: 23573423
9 IGLL1 NM_020070.3(IGLL1): c.464C> T (p.Pro155Leu) single nucleotide variant Benign rs145176864 GRCh37 Chromosome 22, 23915631: 23915631
10 IGLL1 NM_020070.3(IGLL1): c.464C> T (p.Pro155Leu) single nucleotide variant Benign rs145176864 GRCh38 Chromosome 22, 23573444: 23573444
11 IGLL1 NM_020070.3(IGLL1): c.616A> T (p.Thr206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139491925 GRCh37 Chromosome 22, 23915479: 23915479
12 IGLL1 NM_020070.3(IGLL1): c.616A> T (p.Thr206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139491925 GRCh38 Chromosome 22, 23573292: 23573292
13 IGLL1 NM_020070.3(IGLL1): c.566G> A (p.Arg189His) single nucleotide variant Benign rs8138122 GRCh37 Chromosome 22, 23915529: 23915529
14 IGLL1 NM_020070.3(IGLL1): c.566G> A (p.Arg189His) single nucleotide variant Benign rs8138122 GRCh38 Chromosome 22, 23573342: 23573342
15 IGLL1 NM_020070.3(IGLL1): c.507C> T (p.Ser169=) single nucleotide variant Benign rs74519217 GRCh37 Chromosome 22, 23915588: 23915588
16 IGLL1 NM_020070.3(IGLL1): c.507C> T (p.Ser169=) single nucleotide variant Benign rs74519217 GRCh38 Chromosome 22, 23573401: 23573401
17 IGLL1 NM_020070.3(IGLL1): c.475G> A (p.Gly159Ser) single nucleotide variant Benign rs139571703 GRCh37 Chromosome 22, 23915620: 23915620
18 IGLL1 NM_020070.3(IGLL1): c.475G> A (p.Gly159Ser) single nucleotide variant Benign rs139571703 GRCh38 Chromosome 22, 23573433: 23573433
19 IGLL1 NM_020070.3(IGLL1): c.300C> T (p.Ser100=) single nucleotide variant Benign rs115303391 GRCh38 Chromosome 22, 23574989: 23574989
20 IGLL1 NM_020070.3(IGLL1): c.300C> T (p.Ser100=) single nucleotide variant Benign rs115303391 GRCh37 Chromosome 22, 23917176: 23917176
21 IGLL1 NM_020070.3(IGLL1): c.284C> A (p.Thr95Lys) single nucleotide variant Benign rs116041505 GRCh38 Chromosome 22, 23575005: 23575005
22 IGLL1 NM_020070.3(IGLL1): c.284C> A (p.Thr95Lys) single nucleotide variant Benign rs116041505 GRCh37 Chromosome 22, 23917192: 23917192
23 IGLL1 NM_020070.3(IGLL1): c.276C> T (p.Asn92=) single nucleotide variant Benign rs116275804 GRCh37 Chromosome 22, 23917200: 23917200
24 IGLL1 NM_020070.3(IGLL1): c.276C> T (p.Asn92=) single nucleotide variant Benign rs116275804 GRCh38 Chromosome 22, 23575013: 23575013
25 IGLL1 NM_020070.3(IGLL1): c.549C> T (p.Pro183=) single nucleotide variant Benign rs75088277 GRCh37 Chromosome 22, 23915546: 23915546
26 IGLL1 NM_020070.3(IGLL1): c.549C> T (p.Pro183=) single nucleotide variant Benign rs75088277 GRCh38 Chromosome 22, 23573359: 23573359
27 IGLL1 NM_020070.3(IGLL1): c.520_521delGCinsAT (p.Ala174Met) indel Uncertain significance rs1555903974 GRCh38 Chromosome 22, 23573387: 23573388
28 IGLL1 NM_020070.3(IGLL1): c.520_521delGCinsAT (p.Ala174Met) indel Uncertain significance rs1555903974 GRCh37 Chromosome 22, 23915574: 23915575
29 IGLL1 NM_020070.3(IGLL1): c.336C> T (p.Ala112=) single nucleotide variant Likely benign rs140494226 GRCh38 Chromosome 22, 23573572: 23573572
30 IGLL1 NM_020070.3(IGLL1): c.336C> T (p.Ala112=) single nucleotide variant Likely benign rs140494226 GRCh37 Chromosome 22, 23915759: 23915759
31 IGLL1 NM_020070.3(IGLL1): c.207-9T> A single nucleotide variant Benign rs201800585 GRCh38 Chromosome 22, 23575091: 23575091
32 IGLL1 NM_020070.3(IGLL1): c.207-9T> A single nucleotide variant Benign rs201800585 GRCh37 Chromosome 22, 23917278: 23917278
33 IGLL1 NM_020070.3(IGLL1): c.607G> A (p.Val203Met) single nucleotide variant Uncertain significance rs771552908 GRCh37 Chromosome 22, 23915488: 23915488
34 IGLL1 NM_020070.3(IGLL1): c.607G> A (p.Val203Met) single nucleotide variant Uncertain significance rs771552908 GRCh38 Chromosome 22, 23573301: 23573301
35 IGLL1 NM_020070.3(IGLL1): c.393T> C (p.Ala131=) single nucleotide variant Benign rs1064424 GRCh37 Chromosome 22, 23915702: 23915702
36 IGLL1 NM_020070.3(IGLL1): c.393T> C (p.Ala131=) single nucleotide variant Benign rs1064424 GRCh38 Chromosome 22, 23573515: 23573515
37 IGLL1 NM_020070.3(IGLL1): c.334G> A (p.Ala112Thr) single nucleotide variant Likely benign rs149986237 GRCh38 Chromosome 22, 23573574: 23573574
38 IGLL1 NM_020070.3(IGLL1): c.334G> A (p.Ala112Thr) single nucleotide variant Likely benign rs149986237 GRCh37 Chromosome 22, 23915761: 23915761
39 IGLL1 NM_020070.3(IGLL1): c.618G> A (p.Thr206=) single nucleotide variant Likely benign rs147356355 GRCh38 Chromosome 22, 23573290: 23573290
40 IGLL1 NM_020070.3(IGLL1): c.618G> A (p.Thr206=) single nucleotide variant Likely benign rs147356355 GRCh37 Chromosome 22, 23915477: 23915477
41 IGLL1 NM_020070.3(IGLL1): c.309G> A (p.Gln103=) single nucleotide variant Benign rs114285337 GRCh38 Chromosome 22, 23574980: 23574980
42 IGLL1 NM_020070.3(IGLL1): c.309G> A (p.Gln103=) single nucleotide variant Benign rs114285337 GRCh37 Chromosome 22, 23917167: 23917167
43 IGLL1 NM_020070.3(IGLL1): c.437C> T (p.Thr146Met) single nucleotide variant Uncertain significance rs112775194 GRCh38 Chromosome 22, 23573471: 23573471
44 IGLL1 NM_020070.3(IGLL1): c.437C> T (p.Thr146Met) single nucleotide variant Uncertain significance rs112775194 GRCh37 Chromosome 22, 23915658: 23915658
45 IGLL1 NM_020070.3(IGLL1): c.606_609delCGTGinsTGCA (p.Val203Ala) indel Uncertain significance GRCh37 Chromosome 22, 23915486: 23915489
46 IGLL1 NM_020070.3(IGLL1): c.606_609delCGTGinsTGCA (p.Val203Ala) indel Uncertain significance GRCh38 Chromosome 22, 23573299: 23573302
47 IGLL1 NM_020070.3(IGLL1): c.553C> T (p.Gln185Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 23915542: 23915542
48 IGLL1 NM_020070.3(IGLL1): c.553C> T (p.Gln185Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 23573355: 23573355
49 IGLL1 NM_020070.3(IGLL1): c.521C> T (p.Ala174Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 23915574: 23915574
50 IGLL1 NM_020070.3(IGLL1): c.521C> T (p.Ala174Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 23573387: 23573387

Expression for Agammaglobulinemia 2, Autosomal Recessive

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Pathways for Agammaglobulinemia 2, Autosomal Recessive

GO Terms for Agammaglobulinemia 2, Autosomal Recessive

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