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 57 74 29 13 6 72
Agm7 57 74
Agammaglobulinemia, Autosomal Recessive, Due to Pik3r1 Defect 57
Agammaglobulinemia Autosomal Recessive Due to Pik3r1 Defect 74
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:

MeSH 44 D000361
UMLS 72 C3554689

Summaries for Agammaglobulinemia 7, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 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 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:

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

Symptoms via clinical synopsis from OMIM:

57
Immunology:
recurrent infections
neutropenia
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:

41
B Cells, T Cells, Nk 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. 8 71
22351933 2012
2
A human immunodeficiency caused by mutations in the PIK3R1 gene. 71
25133428 2014
3
Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. 8
7705412 1995

Variations for Agammaglobulinemia 7, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 7, Autosomal Recessive:

6 (show all 33)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PIK3R1 NM_181523.3(PIK3R1): c.1425+1G> A single nucleotide variant Pathogenic rs587777709 5:67589663-67589663 5:68293835-68293835
2 PIK3R1 NM_181523.3(PIK3R1): c.893G> A (p.Trp298Ter) single nucleotide variant Pathogenic rs397509384 5:67576811-67576811 5:68280983-68280983
3 PIK3R1 NM_181523.3(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 5:67592129-67592129 5:68296301-68296301
4 PIK3R1 NM_181523.3(PIK3R1): c.1425+1G> C single nucleotide variant Pathogenic rs587777709 5:67589663-67589663 5:68293835-68293835
5 PIK3R1 NM_181523.3(PIK3R1): c.1710dup (p.Ile571fs) duplication Pathogenic 5:67591117-67591117 5:68295289-68295289
6 PIK3R1 NM_181523.3(PIK3R1): c.965del (p.Met322fs) deletion Pathogenic 5:67588135-67588135 5:68292307-68292307
7 PIK3R1 NM_181523.3(PIK3R1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs1057519838 5:67589618-67589618 5:68293790-68293790
8 PIK3R1 NM_181523.3(PIK3R1): c.1185A> G (p.Pro395=) single nucleotide variant Conflicting interpretations of pathogenicity rs149905863 5:67589197-67589197 5:68293369-68293369
9 PIK3R1 NM_181523.3(PIK3R1): c.1019+6G> C single nucleotide variant Uncertain significance rs749016701 5:67588195-67588195 5:68292367-68292367
10 PIK3R1 NM_181523.3(PIK3R1): c.1020-3C> T single nucleotide variant Uncertain significance rs200653607 5:67588926-67588926 5:68293098-68293098
11 PIK3R1 NM_181523.3(PIK3R1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs142439210 5:67588131-67588131 5:68292303-68292303
12 PIK3R1 NM_181523.3(PIK3R1): c.65T> C (p.Ile22Thr) single nucleotide variant Uncertain significance rs150689648 5:67522568-67522568 5:68226740-68226740
13 PIK3R1 NM_181523.3(PIK3R1): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs755043940 5:67522705-67522705 5:68226877-68226877
14 PIK3R1 NM_181523.3(PIK3R1): c.427+4A> C single nucleotide variant Uncertain significance 5:67569314-67569314 5:68273486-68273486
15 PIK3R1 NM_181523.3(PIK3R1): c.504T> A (p.Asp168Glu) single nucleotide variant Uncertain significance 5:67575431-67575431 5:68279603-68279603
16 PIK3R1 NM_181523.3(PIK3R1): c.611G> A (p.Ser204Asn) single nucleotide variant Uncertain significance 5:67575538-67575538 5:68279710-68279710
17 PIK3R1 NM_181523.3(PIK3R1): c.635-7C> G single nucleotide variant Uncertain significance 5:67576349-67576349 5:68280521-68280521
18 PIK3R1 NM_181523.3(PIK3R1): c.649G> A (p.Glu217Lys) single nucleotide variant Uncertain significance 5:67576370-67576370 5:68280542-68280542
19 PIK3R1 NM_181523.3(PIK3R1): c.917-1513G> T single nucleotide variant Uncertain significance 5:67586574-67586574 5:68290746-68290746
20 PIK3R1 NM_181523.3(PIK3R1): c.170A> G (p.Asn57Ser) single nucleotide variant Uncertain significance 5:67522673-67522673 5:68226845-68226845
21 PIK3R1 NM_181523.3(PIK3R1): c.554C> T (p.Ala185Val) single nucleotide variant Uncertain significance 5:67575481-67575481 5:68279653-68279653
22 PIK3R1 NM_181523.3(PIK3R1): c.716C> T (p.Thr239Met) single nucleotide variant Uncertain significance 5:67576437-67576437 5:68280609-68280609
23 PIK3R1 NM_181523.3(PIK3R1): c.634+8T> C single nucleotide variant Likely benign rs368138177 5:67575569-67575569 5:68279741-68279741
24 PIK3R1 NM_181523.3(PIK3R1): c.1396T> C (p.Leu466=) single nucleotide variant Likely benign rs754454562 5:67589633-67589633 5:68293805-68293805
25 PIK3R1 NM_181523.3(PIK3R1): c.1300-10A> C single nucleotide variant Likely benign rs377666209 5:67589527-67589527 5:68293699-68293699
26 PIK3R1 NM_181523.3(PIK3R1): c.621T> C (p.Ile207=) single nucleotide variant Benign/Likely benign rs61749601 5:67575548-67575548 5:68279720-68279720
27 PIK3R1 NM_181523.3(PIK3R1): c.1176C> T (p.Phe392=) single nucleotide variant Benign/Likely benign rs3730090 5:67589188-67589188 5:68293360-68293360
28 PIK3R1 NM_181523.3(PIK3R1): c.2109T> C (p.Leu703=) single nucleotide variant Benign/Likely benign rs3729981 5:67593363-67593363 5:68297535-68297535
29 PIK3R1 NM_181523.3(PIK3R1): c.837-7C> T single nucleotide variant Benign rs571365105 5:67576748-67576748 5:68280920-68280920
30 PIK3R1 NM_181523.3(PIK3R1): c.571C> T (p.Leu191=) single nucleotide variant Benign rs533077843 5:67575498-67575498 5:68279670-68279670
31 PIK3R1 NM_181523.3(PIK3R1): c.687G> A (p.Ser229=) single nucleotide variant Benign rs34175949 5:67576408-67576408 5:68280580-68280580
32 PIK3R1 NM_181523.3(PIK3R1): c.195A> G (p.Glu65=) single nucleotide variant Benign rs73768883 5:67522698-67522698 5:68226870-68226870
33 PIK3R1 NM_181523.3(PIK3R1): c.536T> C (p.Val179Ala) single nucleotide variant not provided 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....