AGM7
MCID: AGM015
MIFTS: 24

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
agammaglobulinemia
recurrent infections
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3R1 NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)duplication Pathogenic 571336 rs1561299903 5:67591115-67591116 5:68295287-68295288
2 PIK3R1 NM_181523.3(PIK3R1):c.965del (p.Met322fs)deletion Pathogenic 648899 5:67588135-67588135 5:68292307-68292307
3 PIK3R1 NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter)SNV Pathogenic 48646 rs397509384 5:67576811-67576811 5:68280983-68280983
4 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)SNV Pathogenic 60763 rs397515453 5:67592129-67592129 5:68296301-68296301
5 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>CSNV Pathogenic 156009 rs587777709 5:67589663-67589663 5:68293835-68293835
6 PIK3R1 NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)SNV Pathogenic 376258 rs1057519838 5:67589618-67589618 5:68293790-68293790
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.1300-2A>GSNV Likely pathogenic 827732 5:67589535-67589535 5:68293707-68293707
9 PIK3R1 NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=)SNV Conflicting interpretations of pathogenicity 532024 rs149905863 5:67589197-67589197 5:68293369-68293369
10 PIK3R1 NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn)SNV Uncertain significance 568563 rs771919405 5:67575538-67575538 5:68279710-68279710
11 PIK3R1 NM_181523.3(PIK3R1):c.635-7C>GSNV Uncertain significance 578937 rs1561289181 5:67576349-67576349 5:68280521-68280521
12 PIK3R1 NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)SNV Uncertain significance 576303 rs540361957 5:67576370-67576370 5:68280542-68280542
13 PIK3R1 NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu)SNV Uncertain significance 575186 rs758929943 5:67575431-67575431 5:68279603-68279603
14 PIK3R1 NM_181523.3(PIK3R1):c.1019+6G>CSNV Uncertain significance 532022 rs749016701 5:67588195-67588195 5:68292367-68292367
15 PIK3R1 NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser)SNV Uncertain significance 463170 rs142439210 5:67588131-67588131 5:68292303-68292303
16 PIK3R1 NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr)SNV Uncertain significance 463166 rs150689648 5:67522568-67522568 5:68226740-68226740
17 PIK3R1 NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)SNV Uncertain significance 463164 rs755043940 5:67522705-67522705 5:68226877-68226877
18 PIK3R1 NM_181523.3(PIK3R1):c.427+4A>CSNV Uncertain significance 642350 5:67569314-67569314 5:68273486-68273486
19 PIK3R1 NM_181523.3(PIK3R1):c.563G>A (p.Arg188His)SNV Uncertain significance 624051 rs148059720 5:67575490-67575490 5:68279662-68279662
20 PIK3R1 NM_181523.3(PIK3R1):c.917-1513G>TSNV Uncertain significance 625995 rs144312303 5:67586574-67586574 5:68290746-68290746
21 PIK3R1 NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)SNV Uncertain significance 661141 5:67522673-67522673 5:68226845-68226845
22 PIK3R1 NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)SNV Uncertain significance 645272 5:67575481-67575481 5:68279653-68279653
23 PIK3R1 NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)SNV Uncertain significance 649231 5:67576437-67576437 5:68280609-68280609
24 PIK3R1 NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg)SNV Uncertain significance 846266 5:67522754-67522754 5:68226926-68226926
25 PIK3R1 NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile)SNV Uncertain significance 843492 5:67522760-67522760 5:68226932-68226932
26 PIK3R1 NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg)SNV Uncertain significance 853571 5:67522835-67522835 5:68227007-68227007
27 PIK3R1 NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu)SNV Uncertain significance 855460 5:67569230-67569230 5:68273402-68273402
28 PIK3R1 NM_181523.3(PIK3R1):c.348G>A (p.Pro116=)SNV Uncertain significance 851179 5:67569231-67569231 5:68273403-68273403
29 PIK3R1 NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu)SNV Uncertain significance 857677 5:67569824-67569824 5:68273996-68273996
30 PIK3R1 NM_181523.3(PIK3R1):c.514G>A (p.Val172Met)SNV Uncertain significance 835242 5:67575441-67575441 5:68279613-68279613
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.686C>T (p.Ser229Leu)SNV Uncertain significance 855725 5:67576407-67576407 5:68280579-68280579
33 PIK3R1 NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu)SNV Uncertain significance 841166 5:67576443-67576443 5:68280615-68280615
34 PIK3R1 NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn)SNV Uncertain significance 863370 5:67576468-67576468 5:68280640-68280640
35 PIK3R1 NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe)SNV Uncertain significance 834213 5:67576473-67576473 5:68280645-68280645
36 PIK3R1 NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp)SNV Uncertain significance 859537 5:67590400-67590400 5:68294572-68294572
37 PIK3R1 NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu)SNV Uncertain significance 848444 5:67590446-67590446 5:68294618-68294618
38 PIK3R1 NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val)SNV Uncertain significance 849630 5:67592028-67592028 5:68296200-68296200
39 PIK3R1 NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs)deletion Uncertain significance 861979 5:67592103-67592113 5:68296275-68296285
40 PIK3R1 NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys)SNV Uncertain significance 847379 5:67593422-67593422 5:68297594-68297594
41 PIK3R1 NM_181523.3(PIK3R1):c.1300-10A>TSNV Uncertain significance 849969 5:67589527-67589527 5:68293699-68293699
42 PIK3R1 NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=)SNV Likely benign 712888 5:67593249-67593249 5:68297421-68297421
43 PIK3R1 NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=)SNV Likely benign 745674 5:67588187-67588187 5:68292359-68292359
44 PIK3R1 NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=)SNV Likely benign 749951 5:67591135-67591135 5:68295307-68295307
45 PIK3R1 NM_181523.3(PIK3R1):c.1119-9T>CSNV Likely benign 747810 5:67589122-67589122 5:68293294-68293294
46 PIK3R1 NM_181523.3(PIK3R1):c.210G>A (p.Pro70=)SNV Likely benign 762043 5:67522713-67522713 5:68226885-68226885
47 PIK3R1 NM_181523.3(PIK3R1):c.249G>A (p.Ser83=)SNV Likely benign 764425 5:67522752-67522752 5:68226924-68226924
48 PIK3R1 NM_181523.3(PIK3R1):c.648C>T (p.Ser216=)SNV Likely benign 766543 5:67576369-67576369 5:68280541-68280541
49 PIK3R1 NM_181523.3(PIK3R1):c.1912T>C (p.Leu638=)SNV Likely benign 762079 5:67592096-67592096 5:68296268-68296268
50 PIK3R1 NM_181523.3(PIK3R1):c.427+5C>ASNV Likely benign 789179 5:67569315-67569315 5:68273487-68273487

Expression for Agammaglobulinemia 7, Autosomal Recessive

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Pathways for Agammaglobulinemia 7, Autosomal Recessive

GO Terms for Agammaglobulinemia 7, Autosomal Recessive

Sources for Agammaglobulinemia 7, Autosomal Recessive

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