AGM2
MCID: AGM021
MIFTS: 26

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 56 73 29 6 71
Agammaglobulinemia 2 56 13
Agm2 56 73
Agammaglobulinemia, Autosomal Recessive, Due to Igll1 Defect 56
Agammaglobulinemia Autosomal Recessive Due to Igll1 Defect 73
Agammaglobulinemia, Type 2, Autosomal Recessive 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
agammaglobulinemia 2, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 613500
OMIM Phenotypic Series 56 PS601495
MeSH 43 D000361
MedGen 41 C3150750
UMLS 71 C3150750

Summaries for Agammaglobulinemia 2, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 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 and agammaglobulinemia. 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

More information from OMIM: 613500 PS601495

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 11.4
2 agammaglobulinemia 10.2
3 immune deficiency disease 9.9
4 giardiasis 9.9

Symptoms & Phenotypes for Agammaglobulinemia 2, Autosomal Recessive

Human phenotypes related to Agammaglobulinemia 2, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 meningitis 31 HP:0001287
2 agammaglobulinemia 31 HP:0004432
3 recurrent pneumonia 31 HP:0006532
4 recurrent bacterial infections 31 HP:0002718

Symptoms via clinical synopsis from OMIM:

56
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 29 IGLL1

Anatomical Context for Agammaglobulinemia 2, Autosomal Recessive

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

40
B Cells, T Cells

Publications for Agammaglobulinemia 2, Autosomal Recessive

Articles related to Agammaglobulinemia 2, Autosomal Recessive:

# Title Authors PMID Year
1
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach. 56 6
25502423 2014
2
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. 56 6
9419212 1998
3
Two members of the DUF579 family are responsible for arabinogalactan methylation in Arabidopsis. 61
31245760 2019
4
Analysis of anti-ganglioside antibodies by a line immunoassay in patients with chronic-inflammatory demyelinating polyneuropathies (CIDP). 61
29329103 2018
5
Characterization of new simian foamy viruses from African nonhuman primates. 61
9356346 1997
6
Two genes encoding midgut-specific maltase-like polypeptides from Anopheles gambiae. 61
7498424 1995

Variations for Agammaglobulinemia 2, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 2, Autosomal Recessive:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IGLL1 NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter)SNV Pathogenic 14824 rs74315491 22:23922314-23922314 22:23580127-23580127
2 IGLL1 NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)SNV Conflicting interpretations of pathogenicity 14825 rs1064422 22:23915670-23915670 22:23573483-23573483
3 IGLL1 NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)SNV Conflicting interpretations of pathogenicity 439824 rs139491925 22:23915479-23915479 22:23573292-23573292
4 IGLL1 NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)SNV Conflicting interpretations of pathogenicity 547919 rs112775194 22:23915658-23915658 22:23573471-23573471
5 IGLL1 NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala)indel Uncertain significance 575852 rs1569069031 22:23915486-23915489 22:23573299-23573302
6 IGLL1 NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter)SNV Uncertain significance 580757 rs1569069105 22:23915542-23915542 22:23573355-23573355
7 IGLL1 NM_020070.4(IGLL1):c.521C>T (p.Ala174Val)SNV Uncertain significance 580208 rs1064419 22:23915574-23915574 22:23573387-23573387
8 IGLL1 NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro)SNV Uncertain significance 569973 rs142959335 22:23915718-23915718 22:23573531-23573531
9 IGLL1 NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln)SNV Uncertain significance 572361 rs569884568 22:23922181-23922181 22:23579994-23579994
10 IGLL1 NC_000022.10:g.(?_23917134)_(23922397_?)dupduplication Uncertain significance 583726 22:23917134-23922397 22:23574947-23580210
11 IGLL1 NM_020070.4(IGLL1):c.458G>T (p.Gly153Val)SNV Uncertain significance 572836 rs138007109 22:23915637-23915637 22:23573450-23573450
12 IGLL1 NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu)SNV Uncertain significance 569037 rs746843426 22:23915733-23915733 22:23573546-23573546
13 IGLL1 NM_020070.4(IGLL1):c.322+3_322+6delshort repeat Uncertain significance 574475 rs1184765604 22:23917148-23917151 22:23574961-23574964
14 IGLL1 NM_020070.4(IGLL1):c.21G>C (p.Gln7His)SNV Uncertain significance 576645 rs1044209410 22:23922357-23922357 22:23580170-23580170
15 IGLL1 NC_000022.10:g.(?_23917134)_(23922397_?)deldeletion Uncertain significance 583765 22:23917134-23922397 22:23574947-23580210
16 IGLL1 NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln)SNV Uncertain significance 575956 rs200178386 22:23917222-23917222 22:23575035-23575035
17 IGLL1 NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn)SNV Uncertain significance 664919 22:23915568-23915568 22:23573381-23573381
18 IGLL1 NM_020070.4(IGLL1):c.478G>A (p.Val160Met)SNV Uncertain significance 644111 22:23915617-23915617 22:23573430-23573430
19 IGLL1 NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser)SNV Uncertain significance 664104 22:23915635-23915635 22:23573448-23573448
20 IGLL1 NM_020070.4(IGLL1):c.385A>C (p.Asn129His)SNV Uncertain significance 644108 22:23915710-23915710 22:23573523-23573523
21 IGLL1 NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys)SNV Uncertain significance 661875 22:23915727-23915727 22:23573540-23573540
22 IGLL1 NM_020070.4(IGLL1):c.316G>A (p.Val106Ile)SNV Uncertain significance 651440 22:23917160-23917160 22:23574973-23574973
23 IGLL1 NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg)SNV Uncertain significance 644739 22:23917175-23917175 22:23574988-23574988
24 IGLL1 NC_000022.10:g.(?_23915433)_(23922397_?)dupduplication Uncertain significance 661192 22:23915433-23922397 22:23573246-23580210
25 IGLL1 NM_020070.4(IGLL1):c.258del (p.Gln88fs)deletion Uncertain significance 236015 rs532338576 22:23917218-23917218 22:23575031-23575031
26 IGLL1 NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met)indel Uncertain significance 538826 rs1555903974 22:23915574-23915575 22:23573387-23573388
27 IGLL1 NM_020070.4(IGLL1):c.607G>A (p.Val203Met)SNV Uncertain significance 538827 rs771552908 22:23915488-23915488 22:23573301-23573301
28 IGLL1 NM_020070.4(IGLL1):c.485T>A (p.Met162Lys)SNV Benign 439820 rs111903752 22:23915610-23915610 22:23573423-23573423
29 IGLL1 NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu)SNV Benign 439823 rs145176864 22:23915631-23915631 22:23573444-23573444
30 IGLL1 NM_020070.4(IGLL1):c.566G>A (p.Arg189His)SNV Benign 487215 rs8138122 22:23915529-23915529 22:23573342-23573342
31 IGLL1 NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser)SNV Benign 478784 rs139571703 22:23915620-23915620 22:23573433-23573433
32 IGLL1 NM_020070.4(IGLL1):c.300C>T (p.Ser100=)SNV Benign 471477 rs115303391 22:23917176-23917176 22:23574989-23574989
33 IGLL1 NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys)SNV Benign 471476 rs116041505 22:23917192-23917192 22:23575005-23575005
34 IGLL1 NM_020070.4(IGLL1):c.549C>T (p.Pro183=)SNV Benign 478775 rs75088277 22:23915546-23915546 22:23573359-23573359

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

73
# Symbol AA change Variation ID SNP ID
1 IGLL1 p.Pro142Leu VAR_034869 rs1064422

Expression for Agammaglobulinemia 2, Autosomal Recessive

Search GEO for disease gene expression data for Agammaglobulinemia 2, Autosomal Recessive.

Pathways for Agammaglobulinemia 2, Autosomal Recessive

GO Terms for Agammaglobulinemia 2, Autosomal Recessive

Sources for Agammaglobulinemia 2, Autosomal Recessive

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