AGM7
MCID: AGM015
MIFTS: 24

Agammaglobulinemia 7, Autosomal Recessive (AGM7)

Categories: Blood diseases, Cardiovascular 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 57 73 29 13 6 71
Agm7 57 73
Agammaglobulinemia, Autosomal Recessive, Due to Pik3r1 Defect 57
Agammaglobulinemia Autosomal Recessive Due to Pik3r1 Defect 73
Agammaglobulinemia, Type 7, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 615214
OMIM Phenotypic Series 57 PS601495
MeSH 44 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®:

57 (Updated 05-Mar-2021)
Immunology:
neutropenia
agammaglobulinemia
recurrent infections
decreased nk cells
normal t cells
more
Abdomen Gastrointestinal:
gastroenteritis, recurrent

Respiratory:
respiratory infections, recurrent

Clinical features from OMIM®:

615214 (Updated 05-Mar-2021)

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. 57 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. 57
7705412 1995

Variations for Agammaglobulinemia 7, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 7, Autosomal Recessive:

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3R1 NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) SNV Pathogenic 48646 rs397509384 5:67576811-67576811 5:68280983-68280983
2 PIK3R1 NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) Duplication Pathogenic 571336 rs1561299903 5:67591115-67591116 5:68295287-68295288
3 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic 372467 rs587777709 5:67589663-67589663 5:68293835-68293835
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.1425+1G>C SNV Pathogenic 156009 rs587777709 5:67589663-67589663 5:68293835-68293835
6 PIK3R1 NM_181523.3(PIK3R1):c.965del (p.Met322fs) Deletion Pathogenic 648899 rs1580260232 5:67588135-67588135 5:68292307-68292307
7 PIK3R1 NM_181523.3(PIK3R1):c.1404_1425+4del Deletion Pathogenic 935112 5:67589638-67589663 5:68293810-68293835
8 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>T SNV Pathogenic 156008 rs587777709 5:67589663-67589663 5:68293835-68293835
9 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV Pathogenic 60763 rs397515453 5:67592129-67592129 5:68296301-68296301
10 PIK3R1 NM_181523.3(PIK3R1):c.1300-2A>G SNV Likely pathogenic 827732 rs1403833564 5:67589535-67589535 5:68293707-68293707
11 PIK3R1 NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp) SNV Uncertain significance 859537 5:67590400-67590400 5:68294572-68294572
12 PIK3R1 NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs) Deletion Uncertain significance 861979 5:67592103-67592113 5:68296275-68296285
13 PIK3R1 NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn) SNV Uncertain significance 863370 5:67576468-67576468 5:68280640-68280640
14 PIK3R1 NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) SNV Uncertain significance 624051 rs148059720 5:67575490-67575490 5:68279662-68279662
15 PIK3R1 NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del) Deletion Uncertain significance 940717 5:67588133-67588144 5:68292305-68292316
16 PIK3R1 NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys) SNV Uncertain significance 943204 5:67575489-67575489 5:68279661-68279661
17 PIK3R1 NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys) SNV Uncertain significance 946102 5:67576807-67576807 5:68280979-68280979
18 PIK3R1 NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe) SNV Uncertain significance 834213 5:67576473-67576473 5:68280645-68280645
19 PIK3R1 NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) SNV Uncertain significance 835242 5:67575441-67575441 5:68279613-68279613
20 PIK3R1 NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu) SNV Uncertain significance 841166 5:67576443-67576443 5:68280615-68280615
21 PIK3R1 NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile) SNV Uncertain significance 843492 5:67522760-67522760 5:68226932-68226932
22 PIK3R1 NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg) SNV Uncertain significance 846266 5:67522754-67522754 5:68226926-68226926
23 PIK3R1 NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys) SNV Uncertain significance 847379 5:67593422-67593422 5:68297594-68297594
24 PIK3R1 NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu) SNV Uncertain significance 848444 5:67590446-67590446 5:68294618-68294618
25 PIK3R1 NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val) SNV Uncertain significance 849630 5:67592028-67592028 5:68296200-68296200
26 PIK3R1 NM_181523.3(PIK3R1):c.1300-10A>T SNV Uncertain significance 849969 5:67589527-67589527 5:68293699-68293699
27 PIK3R1 NM_181523.3(PIK3R1):c.348G>A (p.Pro116=) SNV Uncertain significance 851179 5:67569231-67569231 5:68273403-68273403
28 PIK3R1 NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg) SNV Uncertain significance 853571 5:67522835-67522835 5:68227007-68227007
29 PIK3R1 NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu) SNV Uncertain significance 855460 5:67569230-67569230 5:68273402-68273402
30 PIK3R1 NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu) SNV Uncertain significance 855725 5:67576407-67576407 5:68280579-68280579
31 PIK3R1 NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val) SNV Uncertain significance 856837 5:67576397-67576397 5:68280569-68280569
32 PIK3R1 NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu) SNV Uncertain significance 857677 5:67569824-67569824 5:68273996-68273996
33 PIK3R1 NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile) SNV Uncertain significance 934762 5:67522688-67522688 5:68226860-68226860
34 PIK3R1 NM_181523.3(PIK3R1):c.917-1513G>T SNV Uncertain significance 625995 rs144312303 5:67586574-67586574 5:68290746-68290746
35 PIK3R1 NM_181523.3(PIK3R1):c.427+4A>C SNV Uncertain significance 642350 rs1380740486 5:67569314-67569314 5:68273486-68273486
36 PIK3R1 NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val) SNV Uncertain significance 645272 rs1264292969 5:67575481-67575481 5:68279653-68279653
37 PIK3R1 NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs) Microsatellite Uncertain significance 950410 5:67593262-67593263 5:68297434-68297435
38 PIK3R1 NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu) SNV Uncertain significance 951482 5:67522703-67522703 5:68226875-68226875
39 PIK3R1 NM_181523.3(PIK3R1):c.334+4_334+9del Deletion Uncertain significance 961973 5:67522841-67522846 5:68227013-68227018
40 PIK3R1 NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser) SNV Uncertain significance 964329 5:67593386-67593386 5:68297558-68297558
41 PIK3R1 NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr) SNV Uncertain significance 967011 5:67575480-67575480 5:68279652-68279652
42 PIK3R1 NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys) SNV Uncertain significance 968750 5:67592045-67592045 5:68296217-68296217
43 PIK3R1 NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met) SNV Uncertain significance 969295 5:67569282-67569282 5:68273454-68273454
44 PIK3R1 NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) SNV Uncertain significance 649231 rs141981005 5:67576437-67576437 5:68280609-68280609
45 PIK3R1 NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser) SNV Uncertain significance 661141 rs1580173662 5:67522673-67522673 5:68226845-68226845
46 PIK3R1 NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn) SNV Uncertain significance 568563 rs771919405 5:67575538-67575538 5:68279710-68279710
47 PIK3R1 NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu) SNV Uncertain significance 575186 rs758929943 5:67575431-67575431 5:68279603-68279603
48 PIK3R1 NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) SNV Uncertain significance 576303 rs540361957 5:67576370-67576370 5:68280542-68280542
49 PIK3R1 NM_181523.3(PIK3R1):c.635-7C>G SNV Uncertain significance 578937 rs1561289181 5:67576349-67576349 5:68280521-68280521
50 PIK3R1 NM_181523.3(PIK3R1):c.1019+6G>C SNV Uncertain significance 532022 rs749016701 5:67588195-67588195 5:68292367-68292367

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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