MCID: AGM013
MIFTS: 28

Agammaglobulinemia 1, Autosomal Recessive

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

Aliases & Classifications for Agammaglobulinemia 1, Autosomal Recessive

MalaCards integrated aliases for Agammaglobulinemia 1, Autosomal Recessive:

Name: Agammaglobulinemia 1, Autosomal Recessive 57 75 73
Agammaglobulinemia 1 57 13
Agm1 57 75
Agammaglobulinemia, Autosomal Recessive, Due to Ighm Defect 57
Agammaglobulinemia Autosomal Recessive Due to Ighm Defect 75
Agammaglobulinemia, Type 1, Autosomal Recessive ) 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
agammaglobulinemia 1, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Agammaglobulinemia 1, Autosomal Recessive, also known as agammaglobulinemia 1, is related to agammaglobulinemia, x-linked and agammaglobulinemia, non-bruton type, 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 Development Angiotensin activation of ERK and Immune response Fc epsilon RI pathway. Affiliated tissues include b cells, and related phenotypes are failure to thrive and recurrent otitis media

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Agammaglobulinemia 1, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
diarrhea
enteritis, recurrent

Immunology:
agammaglobulinemia
recurrent bacterial infections
absent or severely reduced numbers of b cells
enteroviral infections
pseudomonas infections
more
Head And Neck Ears:
otitis, recurrent

Respiratory Lung:
pneumonia, recurrent

Respiratory:
recurrent respiratory infections

Laboratory Abnormalities:
neutropenia

Respiratory Airways:
bronchiectasis

Head And Neck Head:
sinusitis, recurrent

Head And Neck Eyes:
conjunctivitis, recurrent


Clinical features from OMIM:

601495

Human phenotypes related to Agammaglobulinemia 1, Autosomal Recessive:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent otitis media 32 HP:0000403
3 diarrhea 32 HP:0002014
4 conjunctivitis 32 HP:0000509
5 neutropenia 32 HP:0001875
6 agammaglobulinemia 32 HP:0004432
7 recurrent pneumonia 32 HP:0006532
8 recurrent bacterial infections 32 HP:0002718
9 b lymphocytopenia 32 HP:0010976
10 bronchiectasis 32 HP:0002110
11 recurrent sinusitis 32 HP:0011108
12 crohn's disease 32 HP:0100280
13 recurrent enteroviral infections 32 HP:0002743

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

Anatomical Context for Agammaglobulinemia 1, Autosomal Recessive

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

41
B Cells

Publications for Agammaglobulinemia 1, Autosomal Recessive

Variations for Agammaglobulinemia 1, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 1, Autosomal Recessive:

6
(show all 45)
# Gene Variation Type Significance SNP ID Assembly Location
1 BTK NM_000061.2(BTK): c.1574G> A (p.Arg525Gln) single nucleotide variant Pathogenic rs128620183 GRCh37 Chromosome X, 100609675: 100609675
2 BTK NM_000061.2(BTK): c.1574G> A (p.Arg525Gln) single nucleotide variant Pathogenic rs128620183 GRCh38 Chromosome X, 101354687: 101354687
3 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 GRCh37 Chromosome X, 100630190: 100630190
4 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 GRCh38 Chromosome X, 101375202: 101375202
5 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 GRCh37 Chromosome X, 100615569: 100615569
6 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 GRCh38 Chromosome X, 101360581: 101360581
7 BTK NM_000061.2(BTK): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs128621201 GRCh37 Chromosome X, 100611048: 100611048
8 BTK NM_000061.2(BTK): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs128621201 GRCh38 Chromosome X, 101356060: 101356060
9 BTK NM_000061.2(BTK): c.1684C> T (p.Arg562Trp) single nucleotide variant Pathogenic rs128621204 GRCh37 Chromosome X, 100608924: 100608924
10 BTK NM_000061.2(BTK): c.1684C> T (p.Arg562Trp) single nucleotide variant Pathogenic rs128621204 GRCh38 Chromosome X, 101353936: 101353936
11 IGHM IGHM, 75-KB DEL deletion Pathogenic
12 IGHM IGHM, IVS4AS, G-A, -1 single nucleotide variant Pathogenic
13 IGHM IGHM, CYS412GLY undetermined variant Pathogenic
14 IGHM IGHM, 2-BP DEL, AA deletion Pathogenic
15 IGHM NC_000014.9: g.105855107C> T single nucleotide variant Pathogenic rs281865422 GRCh37 Chromosome 14, 106321212: 106321212
16 IGHM NC_000014.9: g.105855107C> T single nucleotide variant Pathogenic rs281865422 GRCh38 Chromosome 14, 105855107: 105855107
17 IGHM NC_000014.9: g.105854468A> C single nucleotide variant not provided rs267606871 GRCh37 Chromosome 14, 106320573: 106320573
18 IGHM NC_000014.9: g.105854468A> C single nucleotide variant not provided rs267606871 GRCh38 Chromosome 14, 105854468: 105854468
19 IGHM X57331.1: g.275C> A single nucleotide variant Pathogenic
20 BTK NM_000061.2(BTK): c.1946delG (p.Ser649Thrfs) deletion Pathogenic GRCh38 Chromosome X, 101349919: 101349919
21 BTK NM_000061.2(BTK): c.1946delG (p.Ser649Thrfs) deletion Pathogenic GRCh37 Chromosome X, 100604907: 100604907
22 BTK NM_000061.2(BTK): c.1706T> C (p.Leu569Pro) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100608902: 100608902
23 BTK NM_000061.2(BTK): c.1706T> C (p.Leu569Pro) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101353914: 101353914
24 BTK NM_000061.2(BTK): c.1630_1631+3delinsGAAA indel Pathogenic GRCh38 Chromosome X, 101354627: 101354631
25 BTK NM_000061.2(BTK): c.1630_1631+3delinsGAAA indel Pathogenic GRCh37 Chromosome X, 100609615: 100609619
26 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic GRCh37 Chromosome X, 100609665: 100609668
27 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic GRCh38 Chromosome X, 101354677: 101354680
28 BTK NM_000061.2(BTK): c.1567-2A> T single nucleotide variant Pathogenic GRCh38 Chromosome X, 101354696: 101354696
29 BTK NM_000061.2(BTK): c.1567-2A> T single nucleotide variant Pathogenic GRCh37 Chromosome X, 100609684: 100609684
30 BTK NM_000061.2(BTK): c.1475G> A (p.Arg492His) single nucleotide variant Uncertain significance rs782338603 GRCh37 Chromosome X, 100611131: 100611131
31 BTK NM_000061.2(BTK): c.1475G> A (p.Arg492His) single nucleotide variant Uncertain significance rs782338603 GRCh38 Chromosome X, 101356143: 101356143
32 BTK NM_000061.2(BTK): c.1116G> C (p.Arg372Ser) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101357570: 101357570
33 BTK NM_000061.2(BTK): c.1116G> C (p.Arg372Ser) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100612558: 100612558
34 BTK NM_000061.2(BTK): c.953C> T (p.Ser318Phe) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101358638: 101358638
35 BTK NM_000061.2(BTK): c.953C> T (p.Ser318Phe) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100613626: 100613626
36 BTK NM_000061.2(BTK): c.863G> A (p.Arg288Gln) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101359324: 101359324
37 BTK NM_000061.2(BTK): c.863G> A (p.Arg288Gln) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100614312: 100614312
38 BTK NM_000061.2(BTK): c.435C> A (p.Cys145Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101362646: 101362646
39 BTK NM_000061.2(BTK): c.435C> A (p.Cys145Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100617634: 100617634
40 BTK NM_000061.2(BTK): c.371G> A (p.Trp124Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 101370018: 101370018
41 BTK NM_000061.2(BTK): c.371G> A (p.Trp124Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 100625006: 100625006
42 BTK NM_000061.2(BTK): c.161delG (p.Gly54Valfs) deletion Pathogenic GRCh37 Chromosome X, 100629603: 100629603
43 BTK NM_000061.2(BTK): c.161delG (p.Gly54Valfs) deletion Pathogenic GRCh38 Chromosome X, 101374615: 101374615
44 BTK NM_000061.2(BTK): c.141+3_141+6del deletion Pathogenic GRCh38 Chromosome X, 101375138: 101375141
45 BTK NM_000061.2(BTK): c.141+3_141+6del deletion Pathogenic GRCh37 Chromosome X, 100630126: 100630129

Expression for Agammaglobulinemia 1, Autosomal Recessive

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

Pathways for Agammaglobulinemia 1, Autosomal Recessive

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 immune system process GO:0002376 9.26 BTK IGHM
2 innate immune response GO:0045087 9.16 BTK IGHM
3 adaptive immune response GO:0002250 8.96 BTK IGHM
4 B cell receptor signaling pathway GO:0050853 8.62 BTK IGHM

Sources for Agammaglobulinemia 1, Autosomal Recessive

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