AGM7
MCID: AGM015
MIFTS: 23

Agammaglobulinemia 7, Autosomal Recessive (AGM7)

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

Aliases & Classifications for Agammaglobulinemia 7, Autosomal Recessive

MalaCards integrated aliases for Agammaglobulinemia 7, Autosomal Recessive:

Name: Agammaglobulinemia 7, Autosomal Recessive 56 73 29 13 6 71
Agm7 56 73
Agammaglobulinemia, Autosomal Recessive, Due to Pik3r1 Defect 56
Agammaglobulinemia Autosomal Recessive Due to Pik3r1 Defect 73
Agammaglobulinemia, Type 7, Autosomal Recessive 39

Characteristics:

OMIM:

56
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:

31
agammaglobulinemia 7, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 615214
OMIM Phenotypic Series 56 PS601495
MeSH 43 D000361
SNOMED-CT via HPO 68 119249001 165517008 258211005
UMLS 71 C3554689

Summaries for Agammaglobulinemia 7, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 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, nk cells and t cells, and related phenotypes are recurrent respiratory infections and neutropenia

More information from OMIM: 615214 PS601495

Related Diseases for Agammaglobulinemia 7, Autosomal Recessive

Symptoms & Phenotypes for Agammaglobulinemia 7, Autosomal Recessive

Human phenotypes related to Agammaglobulinemia 7, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 neutropenia 31 HP:0001875
3 agammaglobulinemia 31 HP:0004432

Symptoms via clinical synopsis from OMIM:

56
Immunology:
neutropenia
recurrent infections
agammaglobulinemia
decreased nk cells
arrest of b cell development at very early stage
more
Abdomen Gastrointestinal:
gastroenteritis, recurrent

Respiratory:
respiratory infections, recurrent

Clinical features from OMIM:

615214

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:

40
B Cells, Nk Cells, T Cells

Publications for Agammaglobulinemia 7, Autosomal Recessive

Articles related to Agammaglobulinemia 7, Autosomal Recessive:

# Title Authors PMID Year
1
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 56 6
22351933 2012
2
A human immunodeficiency caused by mutations in the PIK3R1 gene. 6
25133428 2014
3
Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. 56
7705412 1995

Variations for Agammaglobulinemia 7, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 7, Autosomal Recessive:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>CSNV Pathogenic 156009 rs587777709 5:67589663-67589663 5:68293835-68293835
2 PIK3R1 NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter)SNV Pathogenic 48646 rs397509384 5:67576811-67576811 5:68280983-68280983
3 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)SNV Pathogenic 60763 rs397515453 5:67592129-67592129 5:68296301-68296301
4 PIK3R1 NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)SNV Pathogenic 376258 rs1057519838 5:67589618-67589618 5:68293790-68293790
5 PIK3R1 NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)duplication Pathogenic 571336 rs1561299903 5:67591115-67591116 5:68295287-68295288
6 PIK3R1 NM_181523.3(PIK3R1):c.965del (p.Met322fs)deletion Pathogenic 648899 5:67588135-67588135 5:68292307-68292307
7 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>ASNV Pathogenic/Likely pathogenic 372467 rs587777709 5:67589663-67589663 5:68293835-68293835
8 PIK3R1 NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser)SNV Uncertain significance 463170 rs142439210 5:67588131-67588131 5:68292303-68292303
9 PIK3R1 NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr)SNV Uncertain significance 463166 rs150689648 5:67522568-67522568 5:68226740-68226740
10 PIK3R1 NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)SNV Uncertain significance 463164 rs755043940 5:67522705-67522705 5:68226877-68226877
11 PIK3R1 NM_181523.3(PIK3R1):c.1019+6G>CSNV Uncertain significance 532022 rs749016701 5:67588195-67588195 5:68292367-68292367
12 PIK3R1 NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn)SNV Uncertain significance 568563 rs771919405 5:67575538-67575538 5:68279710-68279710
13 PIK3R1 NM_181523.3(PIK3R1):c.635-7C>GSNV Uncertain significance 578937 rs1561289181 5:67576349-67576349 5:68280521-68280521
14 PIK3R1 NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)SNV Uncertain significance 576303 rs540361957 5:67576370-67576370 5:68280542-68280542
15 PIK3R1 NM_181523.3(PIK3R1):c.917-1513G>TSNV Uncertain significance 625995 rs144312303 5:67586574-67586574 5:68290746-68290746
16 PIK3R1 NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)SNV Uncertain significance 661141 5:67522673-67522673 5:68226845-68226845
17 PIK3R1 NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)SNV Uncertain significance 645272 5:67575481-67575481 5:68279653-68279653
18 PIK3R1 NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)SNV Uncertain significance 649231 5:67576437-67576437 5:68280609-68280609
19 PIK3R1 NM_181523.3(PIK3R1):c.427+4A>CSNV Uncertain significance 642350 5:67569314-67569314 5:68273486-68273486
20 PIK3R1 NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu)SNV Uncertain significance 575186 rs758929943 5:67575431-67575431 5:68279603-68279603
21 PIK3R1 NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=)SNV Likely benign 532026 rs754454562 5:67589633-67589633 5:68293805-68293805
22 PIK3R1 NM_181523.3(PIK3R1):c.1300-10A>CSNV Likely benign 532025 rs377666209 5:67589527-67589527 5:68293699-68293699
23 PIK3R1 NM_181523.3(PIK3R1):c.621T>C (p.Ile207=)SNV Benign/Likely benign 159724 rs61749601 5:67575548-67575548 5:68279720-68279720
24 PIK3R1 NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=)SNV Benign/Likely benign 159721 rs3729981 5:67593363-67593363 5:68297535-68297535
25 PIK3R1 NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala)SNV not provided 585151 rs771949848 5:67575463-67575463 5:68279635-68279635

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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