AGM1
MCID: AGM013
MIFTS: 38

Agammaglobulinemia 1, Autosomal Recessive (AGM1)

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

Aliases & Classifications for Agammaglobulinemia 1, Autosomal Recessive

MalaCards integrated aliases for Agammaglobulinemia 1, Autosomal Recessive:

Name: Agammaglobulinemia 1, Autosomal Recessive 57 72 70
Autosomal Recessive Agammaglobulinemia 1 29 6
Agammaglobulinemia 1 57 13
Agm1 57 72
Agammaglobulinemia, Autosomal Recessive, Due to Ighm Defect 57
Agammaglobulinemia Autosomal Recessive Due to Ighm Defect 72
Agammaglobulinemia, Type 1, Autosomal Recessive ) 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy


HPO:

31
agammaglobulinemia 1, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 601495
OMIM Phenotypic Series 57 PS601495
MeSH 44 D000361
UMLS 70 C3152144

Summaries for Agammaglobulinemia 1, Autosomal Recessive

OMIM® : 57 Agammaglobulinemia is 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. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; 300755), also known as Bruton disease, which is caused by mutation in the BTK gene (300300). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings (Lopez Granados et al., 2002; Ferrari et al., 2007). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia (Ferrari et al., 2007). Conley (1999) gave a comprehensive review of autosomal recessive agammaglobulinemia. (601495) (Updated 20-May-2021)

MalaCards based summary : Agammaglobulinemia 1, Autosomal Recessive, also known as autosomal recessive agammaglobulinemia 1, is related to pgm3-congenital disorder of glycosylation and immunodeficiency 23, and has symptoms including diarrhea An important gene associated with Agammaglobulinemia 1, Autosomal Recessive is IGHM (Immunoglobulin Heavy Constant Mu), and among its related pathways/superpathways are Immune response NFAT in immune response and Development Angiotensin activation of ERK. Affiliated tissues include b cells, spleen and nk cells, and related phenotypes are failure to thrive and recurrent otitis media

UniProtKB/Swiss-Prot : 72 Agammaglobulinemia 1, 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.

Related Diseases for Agammaglobulinemia 1, Autosomal Recessive

Graphical network of the top 20 diseases related to Agammaglobulinemia 1, Autosomal Recessive:



Diseases related to Agammaglobulinemia 1, Autosomal Recessive

Symptoms & Phenotypes for Agammaglobulinemia 1, Autosomal Recessive

Human phenotypes related to Agammaglobulinemia 1, Autosomal Recessive:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 recurrent otitis media 31 HP:0000403
3 conjunctivitis 31 HP:0000509
4 neutropenia 31 HP:0001875
5 agammaglobulinemia 31 HP:0004432
6 recurrent pneumonia 31 HP:0006532
7 diarrhea 31 HP:0002014
8 bronchiectasis 31 HP:0002110
9 recurrent bacterial infections 31 HP:0002718
10 crohn's disease 31 HP:0100280
11 recurrent sinusitis 31 HP:0011108
12 b lymphocytopenia 31 HP:0010976
13 recurrent enteroviral infections 31 HP:0002743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Laboratory Abnormalities:
neutropenia

Abdomen Gastrointestinal:
diarrhea
enteritis, recurrent

Head And Neck Ears:
otitis, recurrent

Respiratory Lung:
pneumonia, recurrent

Respiratory:
recurrent respiratory infections

Immunology:
agammaglobulinemia
recurrent bacterial infections
absent or severely reduced numbers of b cells
enteroviral infections
pseudomonas infections
more
Respiratory Airways:
bronchiectasis

Head And Neck Head:
sinusitis, recurrent

Head And Neck Eyes:
conjunctivitis, recurrent

Clinical features from OMIM®:

601495 (Updated 20-May-2021)

UMLS symptoms related to Agammaglobulinemia 1, Autosomal Recessive:


diarrhea

Drugs & Therapeutics for Agammaglobulinemia 1, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia 1, Autosomal Recessive

Genetic Tests for Agammaglobulinemia 1, Autosomal Recessive

Genetic tests related to Agammaglobulinemia 1, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Autosomal Recessive Agammaglobulinemia 1 29 IGHM

Anatomical Context for Agammaglobulinemia 1, Autosomal Recessive

MalaCards organs/tissues related to Agammaglobulinemia 1, Autosomal Recessive:

40
B Cells, Spleen, Nk Cells, Bone Marrow, T Cells, Liver, Bone

Publications for Agammaglobulinemia 1, Autosomal Recessive

Articles related to Agammaglobulinemia 1, Autosomal Recessive:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Clinical and molecular analysis of patients with defects in micro heavy chain gene. 6 57
12370281 2002
2
Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. 6 57
8890099 1996
3
Mutations of the Igbeta gene cause agammaglobulinemia in man. 57
17709424 2007
4
A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage. 57
8833898 1996
5
Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAP. 57
8001127 1994
6
Females with a disorder phenotypically identical to X-linked agammaglobulinemia. 57
1560108 1992
7
Complete nucleotide sequence of the membrane form of the human IgM heavy chain. 6
2115996 1990
8
Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. 57
3296100 1987
9
Familial hypogammaglobulinemia. Genetic linkage with alpha 1-antitrypsin deficiency. 57
6600917 1983
10
Alpha 1-antitrypsin deficiency and common variable hypogammaglobulinemia in a patient with asthma. 57
6976255 1982
11
The Toll-Like Receptor 3 Agonist Polyriboinosinic Polyribocytidylic Acid Increases the Numbers of NK Cells with Distinct Phenotype in the Liver of B6 Mice. 61
32211442 2020
12
Two members of the DUF579 family are responsible for arabinogalactan methylation in Arabidopsis. 61
31245760 2019
13
Evidence for substrate-assisted catalysis in N-acetylphosphoglucosamine mutase. 61
29967067 2018
14
Analysis of anti-ganglioside antibodies by a line immunoassay in patients with chronic-inflammatory demyelinating polyneuropathies (CIDP). 61
29329103 2018
15
Characterization of N-Acetylglucosamine Biosynthesis in Pneumocystis species. A New Potential Target for Therapy. 61
27632412 2017
16
Changes in metabolic chemical reporter structure yield a selective probe of O-GlcNAc modification. 61
25153642 2014
17
Genetic and structural validation of Aspergillus fumigatus N-acetylphosphoglucosamine mutase as an antifungal target. 61
23844980 2013
18
Reconstruction of the UDP-N-acetylglucosamine biosynthetic pathway in cell-free system. 61
20495944 2010
19
Efficient production of uridine 5'-diphospho-N-acetylglucosamine by the combination of three recombinant enzymes and yeast cells. 61
21108133 2010
20
Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development. 61
17548465 2007
21
Crystal structures of N-acetylglucosamine-phosphate mutase, a member of the alpha-D-phosphohexomutase superfamily, and its substrate and product complexes. 61
16651269 2006
22
Purification, crystallization and preliminary X-ray diffraction studies of N-acetylglucosamine-phosphate mutase from Candida albicans. 61
16582501 2006
23
Relation of exaggerated cytokine responses of CF airway epithelial cells to PAO1 adherence. 61
16008840 2005
24
Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1). 61
12174217 2002
25
Chronic idiopathic sensory ataxic neuropathy: immunological aspects of a series of 17 patients. 61
11438771 2001
26
Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis. 61
11004509 2000
27
Dietary sugar beet fiber prevents the increase in aberrant crypt foci induced by gamma-irradiation in the colorectum of rats treated with an immunosuppressant. 61
10867036 2000
28
Anti-ganglioside antibodies in a large cohort of European patients with systemic lupus erythematosus: clinical, serological, and HLA class II gene associations. European Concerted Action on the Immunogenetics of SLE. 61
10648029 2000
29
Anti-neural antibodies in serum and cerebrospinal fluid of amyotrophic lateral sclerosis (ALS) patients. 61
10694928 1999
30
Pili binding to asialo-GM1 on epithelial cells can mediate cytotoxicity or bacterial internalization by Pseudomonas aeruginosa. 61
10377092 1999
31
Immunochemical quantification of glycoconjugates in serum and cerebrospinal fluid of amyotrophic lateral sclerosis patients. 61
10210915 1999
32
Reduction in the adherence of Pseudomonas aeruginosa to native cystic fibrosis epithelium with anti-asialoGM1 antibody and neuraminidase inhibition. 61
10232427 1999
33
Effect of lacto-N-neotetraose, asialoganglioside-GM1 and neuraminidase on adherence of otitis media-associated serotypes of Streptococcus pneumoniae to chinchilla tracheal epithelium. 61
10090858 1999
34
Saccharomyces cerevisiae GNA1, an essential gene encoding a novel acetyltransferase involved in UDP-N-acetylglucosamine synthesis. 61
9867860 1999
35
Suppression of the number of aberrant crypt foci of rat colorectum by ingestion of sugar beet fiber regardless of administration of anti-asialo GM1. 61
9459172 1997
36
Antimetastatic effect of NK1+ T cells on experimental haematogenous tumour metastases in the liver and lungs of mice. 61
9497499 1997
37
A genetic screen reveals a role for the late G1-specific transcription factor Swi4p in diverse cellular functions including cytokinesis. 61
9247198 1997
38
SCID-bg mice as xenograft recipients. 61
9175014 1997
39
NK cell trafficking and cytokine expression in splenic compartments after IFN induction and viral infection. 61
8816415 1996
40
Co-existence of serum-dependent and serum-independent mechanisms for liposome clearance and involvement of non-Kupffer cells in liposome uptake by mouse liver. 61
8914579 1996
41
Pseudomonas aeruginosa adherence to remodelling respiratory epithelium. 61
8902481 1996
42
Two genes encoding midgut-specific maltase-like polypeptides from Anopheles gambiae. 61
7498424 1995
43
Cystic fibrosis epithelial cells have a receptor for pathogenic bacteria on their apical surface. 61
7708767 1995
44
Potential role of natural killer cells in controlling tumorigenesis by human T-cell leukemia viruses. 61
7815516 1995
45
Long- and short-range interactions between phospholipid/ganglioside GM1 bilayers. 61
8068686 1994
46
Cell cycle assessment of adoptive transferred lymphokine activated killer cells. 61
8158860 1994
47
Characterization of the essential yeast gene encoding N-acetylglucosamine-phosphate mutase. 61
8174553 1994
48
Characterization of effector cells against B16 melanoma in mice inoculated with allogeneic spleen cells. 61
7915815 1994
49
Serologic responses to nerve antigens in sooty mangabey monkeys with experimental leprosy. 61
8371033 1993
50
A characteristic ganglioside antibody pattern in the CSF of patients with amyotrophic lateral sclerosis. 61
7683329 1993

Variations for Agammaglobulinemia 1, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 1, Autosomal Recessive:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IGHM IGHM, 75-KB DEL Deletion Pathogenic 14809 GRCh37:
GRCh38:
2 IGHM IGHM, IVS4AS, G-A, -1 SNV Pathogenic 14810 GRCh37:
GRCh38:
3 IGHM IGHM, 2-BP DEL, AA Deletion Pathogenic 14812 GRCh37:
GRCh38:
4 IGHM , IGH NC_000014.8:g.106321212C>T SNV Pathogenic 14813 rs281865422 GRCh37: 14:106321212-106321212
GRCh38: 14:105855107-105855107
5 IGHM , IGH NC_000014.8:g.106320573A>C SNV Pathogenic 156278 rs267606871 GRCh37: 14:106320573-106320573
GRCh38: 14:105854468-105854468
6 IGHM X57331.1:g.275C>A SNV Pathogenic 427234 GRCh37:
GRCh38:
7 BTK NM_000061.2(BTK):c.141+3_141+6del Deletion Pathogenic 492809 rs1555980866 GRCh37: X:100630126-100630129
GRCh38: X:101375138-101375141
8 BTK NM_000061.2(BTK):c.435C>A (p.Cys145Ter) SNV Pathogenic 492812 rs1555978891 GRCh37: X:100617634-100617634
GRCh38: X:101362646-101362646
9 BTK NM_000061.2(BTK):c.953C>T (p.Ser318Phe) SNV Pathogenic 492814 rs1555978197 GRCh37: X:100613626-100613626
GRCh38: X:101358638-101358638
10 BTK NM_000061.2(BTK):c.1706T>C (p.Leu569Pro) SNV Pathogenic 492820 rs1555977461 GRCh37: X:100608902-100608902
GRCh38: X:101353914-101353914
11 BTK NM_000061.2(BTK):c.161del (p.Gly54fs) Deletion Pathogenic 492810 rs1555980799 GRCh37: X:100629603-100629603
GRCh38: X:101374615-101374615
12 BTK NM_000061.2(BTK):c.1116G>C (p.Arg372Ser) SNV Pathogenic 492815 rs1555978024 GRCh37: X:100612558-100612558
GRCh38: X:101357570-101357570
13 BTK NM_000061.2(BTK):c.1567-2A>T SNV Pathogenic 492817 rs1555977598 GRCh37: X:100609684-100609684
GRCh38: X:101354696-101354696
14 BTK NM_000061.2(BTK):c.1946del (p.Ser649fs) Deletion Pathogenic 492821 rs1555976766 GRCh37: X:100604907-100604907
GRCh38: X:101349919-101349919
15 BTK NM_000061.2(BTK):c.1630_1631+3delinsGAAA Indel Pathogenic 492819 rs1555977580 GRCh37: X:100609615-100609619
GRCh38: X:101354627-101354631
16 BTK NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) SNV Pathogenic 11342 rs128620183 GRCh37: X:100609675-100609675
GRCh38: X:101354687-101354687
17 BTK NM_000061.2(BTK):c.371G>A (p.Trp124Ter) SNV Pathogenic 492811 rs1555980049 GRCh37: X:100625006-100625006
GRCh38: X:101370018-101370018
18 BTK NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) SNV Pathogenic 11377 rs128621201 GRCh37: X:100611048-100611048
GRCh38: X:101356060-101356060
19 BTK NM_000061.2(BTK):c.1581_1584del (p.Cys527fs) Deletion Pathogenic 492818 rs1555977592 GRCh37: X:100609665-100609668
GRCh38: X:101354677-101354680
20 BTK NM_000061.2(BTK):c.863G>A (p.Arg288Gln) SNV Pathogenic 492813 rs1555978277 GRCh37: X:100614312-100614312
GRCh38: X:101359324-101359324
21 BTK NM_000061.2(BTK):c.83G>A (p.Arg28His) SNV Pathogenic 11348 rs128620185 GRCh37: X:100630190-100630190
GRCh38: X:101375202-101375202
22 BTK NM_000061.3(BTK):c.763C>T SNV Pathogenic 11363 rs128621193 GRCh37: X:100615569-100615569
GRCh38: X:101360581-101360581
23 BTK NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) SNV Pathogenic 11383 rs128621204 GRCh37: X:100608924-100608924
GRCh38: X:101353936-101353936
24 IGHM , IGH NW_004166863.1:g.518299dup Duplication Likely pathogenic 973583 GRCh37: 14:106321235-106321236
GRCh38: 14:105855130-105855131
25 BTK NM_000061.2(BTK):c.1475G>A (p.Arg492His) SNV Uncertain significance 492816 rs782338603 GRCh37: X:100611131-100611131
GRCh38: X:101356143-101356143
26 CD79A NM_001783.3(CD79A):c.419C>T (p.Thr140Ile) SNV Uncertain significance 587546 rs148797987 GRCh37: 19:42383644-42383644
GRCh38: 19:41879574-41879574
27 IGHM , IGH NC_000014.9:g.105854900G>T SNV Likely benign 811340 rs373184157 GRCh37: 14:106321005-106321005
GRCh38: 14:105854900-105854900
28 IGHM , IGH NC_000014.9:g.105855041A>G SNV Benign 810941 rs10287 GRCh37: 14:106321146-106321146
GRCh38: 14:105855041-105855041
29 IGHM , IGH NC_000014.8:g.106322093G>C SNV Benign 439814 rs113762053 GRCh37: 14:106322093-106322093
GRCh38: 14:105855988-105855988
30 IGHM , IGH NC_000014.8:g.106322261C>T SNV Benign 439815 rs201981439 GRCh37: 14:106322261-106322261
GRCh38: 14:105856156-105856156

Expression for Agammaglobulinemia 1, Autosomal Recessive

Search GEO for disease gene expression data for Agammaglobulinemia 1, Autosomal Recessive.

Pathways for Agammaglobulinemia 1, Autosomal Recessive

Pathways related to Agammaglobulinemia 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 IGHM IGH BTK
2
Show member pathways
11.89 IGHM IGH BTK
3
Show member pathways
11.46 IGHM IGH
4
Show member pathways
11.33 IGHM IGH BTK

GO Terms for Agammaglobulinemia 1, Autosomal Recessive

Biological processes related to Agammaglobulinemia 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.16 IGHM BTK
2 adaptive immune response GO:0002250 8.96 IGHM BTK
3 B cell receptor signaling pathway GO:0050853 8.62 IGHM BTK

Sources for Agammaglobulinemia 1, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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