MCID: AGM015
MIFTS: 19

Agammaglobulinemia 7, Autosomal Recessive

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

Aliases & Classifications for Agammaglobulinemia 7, Autosomal Recessive

MalaCards integrated aliases for Agammaglobulinemia 7, Autosomal Recessive:

Name: Agammaglobulinemia 7, Autosomal Recessive 57 75 29 13 6 73
Agm7 57 75
Agammaglobulinemia, Autosomal Recessive, Due to Pik3r1 Defect 57
Agammaglobulinemia Autosomal Recessive Due to Pik3r1 Defect 75
Agammaglobulinemia, Type 7, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur due to infection
one consanguineous family has been reported (last curated may 2013)


HPO:

32
agammaglobulinemia 7, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 615214
MeSH 44 D000361
SNOMED-CT via HPO 69 258211005 165517008 119249001
UMLS 73 C3554689

Summaries for Agammaglobulinemia 7, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Agammaglobulinemia 7, 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 7, Autosomal Recessive, is also known as agm7. An important gene associated with Agammaglobulinemia 7, Autosomal Recessive is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1). Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are neutropenia and recurrent respiratory infections

Description from OMIM: 615214

Related Diseases for Agammaglobulinemia 7, Autosomal Recessive

Symptoms & Phenotypes for Agammaglobulinemia 7, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory infections, recurrent

Immunology:
agammaglobulinemia
recurrent infections
neutropenia
arrest of b cell development at very early stage
decreased nk cells
more
Abdomen Gastrointestinal:
gastroenteritis, recurrent


Clinical features from OMIM:

615214

Human phenotypes related to Agammaglobulinemia 7, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 neutropenia 32 HP:0001875
2 recurrent respiratory infections 32 HP:0002205
3 agammaglobulinemia 32 HP:0004432

Drugs & Therapeutics for Agammaglobulinemia 7, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia 7, Autosomal Recessive

Genetic Tests for Agammaglobulinemia 7, Autosomal Recessive

Genetic tests related to Agammaglobulinemia 7, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Agammaglobulinemia 7, Autosomal Recessive 29 PIK3R1

Anatomical Context for Agammaglobulinemia 7, Autosomal Recessive

MalaCards organs/tissues related to Agammaglobulinemia 7, Autosomal Recessive:

41
B Cells, T Cells, Nk Cells

Publications for Agammaglobulinemia 7, Autosomal Recessive

Variations for Agammaglobulinemia 7, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 7, Autosomal Recessive:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3R1 NM_181523.2(PIK3R1): c.893G> A (p.Trp298Ter) single nucleotide variant Pathogenic rs397509384 GRCh37 Chromosome 5, 67576811: 67576811
2 PIK3R1 NM_181523.2(PIK3R1): c.893G> A (p.Trp298Ter) single nucleotide variant Pathogenic rs397509384 GRCh38 Chromosome 5, 68280983: 68280983
3 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh37 Chromosome 5, 67592129: 67592129
4 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh38 Chromosome 5, 68296301: 68296301
5 PIK3R1 NM_181523.2(PIK3R1): c.621T> C (p.Ile207=) single nucleotide variant Benign/Likely benign rs61749601 GRCh37 Chromosome 5, 67575548: 67575548
6 PIK3R1 NM_181523.2(PIK3R1): c.621T> C (p.Ile207=) single nucleotide variant Benign/Likely benign rs61749601 GRCh38 Chromosome 5, 68279720: 68279720
7 PIK3R1 NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=) single nucleotide variant Benign/Likely benign rs3730090 GRCh37 Chromosome 5, 67589188: 67589188
8 PIK3R1 NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=) single nucleotide variant Benign/Likely benign rs3730090 GRCh38 Chromosome 5, 68293360: 68293360
9 PIK3R1 NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=) single nucleotide variant Benign/Likely benign rs3729981 GRCh37 Chromosome 5, 67593363: 67593363
10 PIK3R1 NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=) single nucleotide variant Benign/Likely benign rs3729981 GRCh38 Chromosome 5, 68297535: 68297535
11 PIK3R1 NM_181523.2(PIK3R1): c.634+8T> C single nucleotide variant Likely benign rs368138177 GRCh37 Chromosome 5, 67575569: 67575569
12 PIK3R1 NM_181523.2(PIK3R1): c.634+8T> C single nucleotide variant Likely benign rs368138177 GRCh38 Chromosome 5, 68279741: 68279741
13 PIK3R1 NM_181523.2(PIK3R1): c.837-7C> T single nucleotide variant Benign rs571365105 GRCh37 Chromosome 5, 67576748: 67576748
14 PIK3R1 NM_181523.2(PIK3R1): c.837-7C> T single nucleotide variant Benign rs571365105 GRCh38 Chromosome 5, 68280920: 68280920
15 PIK3R1 NM_181523.2(PIK3R1): c.571C> T (p.Leu191=) single nucleotide variant Benign rs533077843 GRCh37 Chromosome 5, 67575498: 67575498
16 PIK3R1 NM_181523.2(PIK3R1): c.571C> T (p.Leu191=) single nucleotide variant Benign rs533077843 GRCh38 Chromosome 5, 68279670: 68279670
17 PIK3R1 NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs142439210 GRCh37 Chromosome 5, 67588131: 67588131
18 PIK3R1 NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs142439210 GRCh38 Chromosome 5, 68292303: 68292303
19 PIK3R1 NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr) single nucleotide variant Uncertain significance rs150689648 GRCh37 Chromosome 5, 67522568: 67522568
20 PIK3R1 NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr) single nucleotide variant Uncertain significance rs150689648 GRCh38 Chromosome 5, 68226740: 68226740
21 PIK3R1 NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs755043940 GRCh37 Chromosome 5, 67522705: 67522705
22 PIK3R1 NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs755043940 GRCh38 Chromosome 5, 68226877: 68226877
23 PIK3R1 NM_181523.2(PIK3R1): c.687G> A (p.Ser229=) single nucleotide variant Benign rs34175949 GRCh37 Chromosome 5, 67576408: 67576408
24 PIK3R1 NM_181523.2(PIK3R1): c.687G> A (p.Ser229=) single nucleotide variant Benign rs34175949 GRCh38 Chromosome 5, 68280580: 68280580
25 PIK3R1 NM_181523.2(PIK3R1): c.195A> G (p.Glu65=) single nucleotide variant Benign rs73768883 GRCh37 Chromosome 5, 67522698: 67522698
26 PIK3R1 NM_181523.2(PIK3R1): c.195A> G (p.Glu65=) single nucleotide variant Benign rs73768883 GRCh38 Chromosome 5, 68226870: 68226870
27 PIK3R1 NM_181523.2(PIK3R1): c.1300-10A> C single nucleotide variant Likely benign rs377666209 GRCh38 Chromosome 5, 68293699: 68293699
28 PIK3R1 NM_181523.2(PIK3R1): c.1300-10A> C single nucleotide variant Likely benign rs377666209 GRCh37 Chromosome 5, 67589527: 67589527
29 PIK3R1 NM_181523.2(PIK3R1): c.1019+6G> C single nucleotide variant Uncertain significance rs749016701 GRCh37 Chromosome 5, 67588195: 67588195
30 PIK3R1 NM_181523.2(PIK3R1): c.1019+6G> C single nucleotide variant Uncertain significance rs749016701 GRCh38 Chromosome 5, 68292367: 68292367
31 PIK3R1 NM_181523.2(PIK3R1): c.1020-3C> T single nucleotide variant Uncertain significance rs200653607 GRCh37 Chromosome 5, 67588926: 67588926
32 PIK3R1 NM_181523.2(PIK3R1): c.1020-3C> T single nucleotide variant Uncertain significance rs200653607 GRCh38 Chromosome 5, 68293098: 68293098
33 PIK3R1 NM_181523.2(PIK3R1): c.1396T> C (p.Leu466=) single nucleotide variant Likely benign rs754454562 GRCh37 Chromosome 5, 67589633: 67589633
34 PIK3R1 NM_181523.2(PIK3R1): c.1396T> C (p.Leu466=) single nucleotide variant Likely benign rs754454562 GRCh38 Chromosome 5, 68293805: 68293805
35 PIK3R1 NM_181523.2(PIK3R1): c.1185A> G (p.Pro395=) single nucleotide variant Likely benign rs149905863 GRCh37 Chromosome 5, 67589197: 67589197
36 PIK3R1 NM_181523.2(PIK3R1): c.1185A> G (p.Pro395=) single nucleotide variant Likely benign rs149905863 GRCh38 Chromosome 5, 68293369: 68293369

Expression for Agammaglobulinemia 7, Autosomal Recessive

Search GEO for disease gene expression data for Agammaglobulinemia 7, Autosomal Recessive.

Pathways for Agammaglobulinemia 7, Autosomal Recessive

GO Terms for Agammaglobulinemia 7, Autosomal Recessive

Sources for Agammaglobulinemia 7, Autosomal Recessive

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