AGM2
MCID: AGM021
MIFTS: 27

Agammaglobulinemia 2, Autosomal Recessive (AGM2)

Categories: Blood diseases, Cardiovascular 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 57 72 29 6 70
Agammaglobulinemia 2 57 13
Agm2 57 72
Agammaglobulinemia, Autosomal Recessive, Due to Igll1 Defect 57
Agammaglobulinemia Autosomal Recessive Due to Igll1 Defect 72
Agammaglobulinemia, Type 2, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 613500
OMIM Phenotypic Series 57 PS601495
MeSH 44 D000361
MedGen 41 C3150750
UMLS 70 C3150750

Summaries for Agammaglobulinemia 2, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 11.3
2 agammaglobulinemia 10.0
3 giardiasis 9.8

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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. 57 6
25502423 2014
2
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. 57 6
9419212 1998
3
Immunogenicity and Protective Efficacy of Influenza A DNA Vaccines Encoding Artificial Antigens Based on Conservative Hemagglutinin Stem Region and M2 Protein in Mice. 61
32784907 2020
4
Two members of the DUF579 family are responsible for arabinogalactan methylation in Arabidopsis. 61
31245760 2019
5
Analysis of anti-ganglioside antibodies by a line immunoassay in patients with chronic-inflammatory demyelinating polyneuropathies (CIDP). 61
29329103 2018
6
Characterization of new simian foamy viruses from African nonhuman primates. 61
9356346 1997
7
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 top 50) (show all 85)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IGLL1 NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter) SNV Pathogenic 14824 rs74315491 GRCh37: 22:23922314-23922314
GRCh38: 22:23580127-23580127
2 IGLL1 NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) SNV Conflicting interpretations of pathogenicity 439824 rs139491925 GRCh37: 22:23915479-23915479
GRCh38: 22:23573292-23573292
3 IGLL1 NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) SNV Conflicting interpretations of pathogenicity 538828 rs149986237 GRCh37: 22:23915761-23915761
GRCh38: 22:23573574-23573574
4 IGLL1 NM_020070.4(IGLL1):c.258del (p.Gln88fs) Deletion Conflicting interpretations of pathogenicity 236015 rs532338576 GRCh37: 22:23917218-23917218
GRCh38: 22:23575031-23575031
5 IGLL1 NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) SNV Conflicting interpretations of pathogenicity 547919 rs112775194 GRCh37: 22:23915658-23915658
GRCh38: 22:23573471-23573471
6 IGLL1 NM_020070.4(IGLL1):c.421del (p.Tyr141fs) Deletion Conflicting interpretations of pathogenicity 962416 GRCh37: 22:23915674-23915674
GRCh38: 22:23573487-23573487
7 IGLL1 NM_020070.4(IGLL1):c.178C>T (p.Arg60Trp) SNV Uncertain significance 965383 GRCh37: 22:23922200-23922200
GRCh38: 22:23580013-23580013
8 IGLL1 NM_020070.4(IGLL1):c.17G>T (p.Gly6Val) SNV Uncertain significance 965546 GRCh37: 22:23922361-23922361
GRCh38: 22:23580174-23580174
9 IGLL1 NM_020070.4(IGLL1):c.142A>G (p.Arg48Gly) SNV Uncertain significance 966548 GRCh37: 22:23922236-23922236
GRCh38: 22:23580049-23580049
10 IGLL1 NM_020070.4(IGLL1):c.163C>T (p.Pro55Ser) SNV Uncertain significance 1002499 GRCh37: 22:23922215-23922215
GRCh38: 22:23580028-23580028
11 overlap with 23 genes NC_000022.10:g.(?_23915453)_(24921762_?)dup Duplication Uncertain significance 1004379 GRCh37: 22:23915453-24921762
GRCh38:
12 IGLL1 NM_020070.4(IGLL1):c.594C>A (p.His198Gln) SNV Uncertain significance 1021143 GRCh37: 22:23915501-23915501
GRCh38: 22:23573314-23573314
13 IGLL1 NM_020070.4(IGLL1):c.322+4A>G SNV Uncertain significance 1022099 GRCh37: 22:23917150-23917150
GRCh38: 22:23574963-23574963
14 IGLL1 NC_000022.10:g.(?_23917134)_(23922377_?)dup Duplication Uncertain significance 1025142 GRCh37: 22:23917134-23922377
GRCh38:
15 IGLL1 NM_020070.4(IGLL1):c.53C>T (p.Pro18Leu) SNV Uncertain significance 1025838 GRCh37: 22:23922325-23922325
GRCh38: 22:23580138-23580138
16 IGLL1 NM_020070.4(IGLL1):c.152_158dup (p.Ala54fs) Microsatellite Uncertain significance 1035300 GRCh37: 22:23922219-23922220
GRCh38: 22:23580032-23580033
17 IGLL1 NC_000022.10:g.(?_23922152)_(23922397_?)del Deletion Uncertain significance 1041092 GRCh37: 22:23922152-23922397
GRCh38:
18 IGLL1 NM_020070.4(IGLL1):c.606_607del (p.Val203fs) Deletion Uncertain significance 1044631 GRCh37: 22:23915488-23915489
GRCh38: 22:23573301-23573302
19 IGLL1 NM_020070.4(IGLL1):c.344C>T (p.Ser115Leu) SNV Uncertain significance 1053838 GRCh37: 22:23915751-23915751
GRCh38: 22:23573564-23573564
20 IGLL1 NM_020070.4(IGLL1):c.550G>A (p.Glu184Lys) SNV Uncertain significance 1054982 GRCh37: 22:23915545-23915545
GRCh38: 22:23573358-23573358
21 IGLL1 NM_020070.4(IGLL1):c.617C>T (p.Thr206Met) SNV Uncertain significance 1057687 GRCh37: 22:23915478-23915478
GRCh38: 22:23573291-23573291
22 IGLL1 NM_020070.4(IGLL1):c.338C>A (p.Thr113Asn) SNV Uncertain significance 1063380 GRCh37: 22:23915757-23915757
GRCh38: 22:23573570-23573570
23 IGLL1 NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu) SNV Uncertain significance 836258 GRCh37: 22:23922181-23922181
GRCh38: 22:23579994-23579994
24 IGLL1 NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys) SNV Uncertain significance 840747 GRCh37: 22:23922260-23922260
GRCh38: 22:23580073-23580073
25 IGLL1 NM_020070.4(IGLL1):c.221G>A (p.Arg74His) SNV Uncertain significance 844864 GRCh37: 22:23917255-23917255
GRCh38: 22:23575068-23575068
26 IGLL1 NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly) SNV Uncertain significance 847416 GRCh37: 22:23922200-23922200
GRCh38: 22:23580013-23580013
27 IGLL1 NM_020070.4(IGLL1):c.341C>T (p.Pro114Leu) SNV Uncertain significance 849960 GRCh37: 22:23915754-23915754
GRCh38: 22:23573567-23573567
28 IGLL1 NM_020070.4(IGLL1):c.590T>C (p.Met197Thr) SNV Uncertain significance 861363 GRCh37: 22:23915505-23915505
GRCh38: 22:23573318-23573318
29 IGLL1 NM_020070.4(IGLL1):c.35C>T (p.Ala12Val) SNV Uncertain significance 939503 GRCh37: 22:23922343-23922343
GRCh38: 22:23580156-23580156
30 IGLL1 NM_020070.4(IGLL1):c.619G>A (p.Val207Met) SNV Uncertain significance 947731 GRCh37: 22:23915476-23915476
GRCh38: 22:23573289-23573289
31 IGLL1 NM_020070.4(IGLL1):c.415G>A (p.Asp139Asn) SNV Uncertain significance 950995 GRCh37: 22:23915680-23915680
GRCh38: 22:23573493-23573493
32 IGLL1 NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu) SNV Uncertain significance 569037 rs746843426 GRCh37: 22:23915733-23915733
GRCh38: 22:23573546-23573546
33 IGLL1 NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro) SNV Uncertain significance 569973 rs142959335 GRCh37: 22:23915718-23915718
GRCh38: 22:23573531-23573531
34 IGLL1 NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln) SNV Uncertain significance 572361 rs569884568 GRCh37: 22:23922181-23922181
GRCh38: 22:23579994-23579994
35 IGLL1 NM_020070.4(IGLL1):c.458G>T (p.Gly153Val) SNV Uncertain significance 572836 rs138007109 GRCh37: 22:23915637-23915637
GRCh38: 22:23573450-23573450
36 IGLL1 NM_020070.4(IGLL1):c.322+3_322+6del Microsatellite Uncertain significance 574475 rs1184765604 GRCh37: 22:23917148-23917151
GRCh38: 22:23574961-23574964
37 IGLL1 NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala) Indel Uncertain significance 575852 rs1569069031 GRCh37: 22:23915486-23915489
GRCh38: 22:23573299-23573302
38 IGLL1 NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln) SNV Uncertain significance 575956 rs200178386 GRCh37: 22:23917222-23917222
GRCh38: 22:23575035-23575035
39 IGLL1 NM_020070.4(IGLL1):c.21G>C (p.Gln7His) SNV Uncertain significance 576645 rs1044209410 GRCh37: 22:23922357-23922357
GRCh38: 22:23580170-23580170
40 IGLL1 NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter) SNV Uncertain significance 580757 rs1569069105 GRCh37: 22:23915542-23915542
GRCh38: 22:23573355-23573355
41 IGLL1 NC_000022.10:g.(?_23917134)_(23922397_?)dup Duplication Uncertain significance 583726 GRCh37: 22:23917134-23922397
GRCh38: 22:23574947-23580210
42 IGLL1 NC_000022.11:g.(?_23574947)_(23580210_?)del Deletion Uncertain significance 583765 GRCh37: 22:23917134-23922397
GRCh38: 22:23574947-23580210
43 IGLL1 NM_020070.4(IGLL1):c.385A>C (p.Asn129His) SNV Uncertain significance 644108 rs1304505064 GRCh37: 22:23915710-23915710
GRCh38: 22:23573523-23573523
44 IGLL1 NM_020070.4(IGLL1):c.478G>A (p.Val160Met) SNV Uncertain significance 644111 rs138799296 GRCh37: 22:23915617-23915617
GRCh38: 22:23573430-23573430
45 IGLL1 NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg) SNV Uncertain significance 644739 rs775909535 GRCh37: 22:23917175-23917175
GRCh38: 22:23574988-23574988
46 IGLL1 NM_020070.4(IGLL1):c.316G>A (p.Val106Ile) SNV Uncertain significance 651440 rs747083240 GRCh37: 22:23917160-23917160
GRCh38: 22:23574973-23574973
47 IGLL1 NC_000022.10:g.(?_23915433)_(23922397_?)dup Duplication Uncertain significance 661192 GRCh37: 22:23915433-23922397
GRCh38: 22:23573246-23580210
48 IGLL1 NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys) SNV Uncertain significance 661875 rs537809626 GRCh37: 22:23915727-23915727
GRCh38: 22:23573540-23573540
49 IGLL1 NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser) SNV Uncertain significance 664104 rs1602287119 GRCh37: 22:23915635-23915635
GRCh38: 22:23573448-23573448
50 IGLL1 NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn) SNV Uncertain significance 664919 rs765426613 GRCh37: 22:23915568-23915568
GRCh38: 22:23573381-23573381

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

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
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30 HMDB
31 HPO
32 ICD10
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36 KEGG
37 LifeMap
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
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69 Tocris
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