PIK3R1 gene related symptoms and diseases
All the information presented here about the PIK3R1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PIK3R1 gene
Symptoms // Phenotype | % Cases |
---|---|
Recurrent respiratory infections | Common - Between 50% and 80% cases |
Bronchiectasis | Common - Between 50% and 80% cases |
Immunodeficiency | Common - Between 50% and 80% cases |
Decreased antibody level in blood | Common - Between 50% and 80% cases |
Arthritis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PIK3R1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Pneumonia
- Lymphadenopathy
- Lymphoma
- Recurrent sinopulmonary infections
- Recurrent infections
- Inflammation of the large intestine
- Agammaglobulinemia
- Recurrent bacterial infections
And 138 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PIK3R1 gene
Here you will find a list of rare diseases related to the PIK3R1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SHORT SYNDROME
Alternate names
SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome, short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, aarskog-ose-pande syndrome, lipodystrophy, partial, with rieger anomaly and short stature, rieger anomaly-partial
Description
SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.
Most common symptoms of SHORT SYNDROME
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Hypertelorism
More info about SHORT SYNDROME
AUTOSOMAL AGAMMAGLOBULINEMIA
Alternate names
AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect, agammaglobulinemia, non-bruton type
Description
Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.
Most common symptoms of AUTOSOMAL AGAMMAGLOBULINEMIA
- Hypertelorism
- Failure to thrive
- High palate
- Epicanthus
- Fever
More info about AUTOSOMAL AGAMMAGLOBULINEMIA
ACTIVATED PI3K-DELTA SYNDROME
Alternate names
ACTIVATED PI3K-DELTA SYNDROME Is also known as activated pi3k-delta syndrome, senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation, apds, p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency, pasli
Description
Activated PI3K-delta syndrome is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.
Most common symptoms of ACTIVATED PI3K-DELTA SYNDROME
- Splenomegaly
- Immunodeficiency
- Recurrent infections
- Recurrent respiratory infections
- Respiratory tract infection
More info about ACTIVATED PI3K-DELTA SYNDROME
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7
Alternate names
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7 Is also known as agammaglobulinemia, autosomal recessive, due to pik3r1 defect
Most common symptoms of AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7
- Pneumonia
- Recurrent respiratory infections
- Arthritis
- Erythema
- Neutropenia
More info about AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7
SOURCES: OMIM
IMMUNODEFICIENCY 36; IMD36
Description
IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).
Most common symptoms of IMMUNODEFICIENCY 36; IMD36
- Growth delay
- Diarrhea
- Splenomegaly
- Immunodeficiency
- Recurrent respiratory infections
More info about IMMUNODEFICIENCY 36; IMD36
SOURCES: OMIM
Search interest in PIK3R1
Potential gene panels for PIK3R1 gene
PIK3R1 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PIK3R1 gene.
More info about this panelPIK3R1 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PIK3R1 gene.
More info about this panelPartial Lipodystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1
More info about this panelComprehensive Lipodystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panelComprehensive Lipodystrophy Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panelPartial Lipodystrophy Panel Panel
By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1
More info about this panelPIK3R1 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the PIK3R1 gene.
More info about this panelPrimary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG VAV1 AICDA BLNK CD19 CD79A
More info about this panelHumoral dysfunction Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panelHumoral dysfunction Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq Analysis that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panelHumoral dysfunction Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq + Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panelSHORT syndrome (sequence analysis of PIK3R1 gene) Panel
By CGC Genetics
This panel specifically test the PIK3R1 gene.
More info about this panelLipodystrophies (NGS panel for 17 genes) Panel
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelLipodystrophies (NGS panel for 17 genes) Panel
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelAgammaglobulinemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Agammaglobulinemia Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM PIK3R1
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelSolid Tumor Panel Panel
By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A
More info about this panelImmunodeficiency type 36 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PIK3R1 gene.
More info about this panelSHORT syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PIK3R1 gene.
More info about this panelAgammaglobulinemia type 7, autosomal recessive Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PIK3R1 gene.
More info about this panelAgammaglobulinemia panel Panel
By Centogene AG - the Rare Disease Company Agammaglobulinemia panel that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panelAntibody deficiencies Panel Panel
By CeGaT GmbH Antibody deficiencies Panel that also includes the following genes: BTK TCF3 TCF4 CD40 TNFSF12 CD40LG UNG AICDA BLNK RTEL1
More info about this panelInvitae Common Variable Immunodeficiency Panel Panel
By Invitae Invitae Common Variable Immunodeficiency Panel that also includes the following genes: STAT3 CD27 TNFSF12 LRBA TNFRSF13C TNFRSF13B CR2 CTLA4 ICOS IL21
More info about this panelInvitae Agammaglobulinemia Panel Panel
By Invitae Invitae Agammaglobulinemia Panel that also includes the following genes: BTK BLNK CD79A CD79B IGLL1 PIK3R1
More info about this panelInvitae Monogenic Autoimmunity Panel Panel
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panelInvitae Monogenic Inflammatory Bowel Disease Panel Panel
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
More info about this panelInvitae Primary Immunodeficiency Panel Panel
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panelNOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
More info about this panelPIK3R1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PIK3R1 gene.
More info about this panelHemato-oncology chromosomal microarray Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panelPrimary Immunodeficiency Panel Panel
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panelSolid Tumor Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panelCNS Tumor Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis CNS Tumor Gene Set that also includes the following genes: SHH BRAF SMARCA4 SMARCB1 SMO TERT MED12 TP53 WNT1 WT1
More info about this panelBreast Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Breast Tumors Gene Set that also includes the following genes: RUNX1 BRAF BRCA1 BRCA2 STK11 TP53 FBXW7 RAD54B CDH1 CDK4
More info about this panelGenitourinary Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1
More info about this panelGynecologic Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1
More info about this panelHead & Neck Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelOmniSeq Comprehensive Panel
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panelLIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 MLIP CIDEC AGPAT2 FOS AKT2 LIPE
More info about this panelSHORT SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PIK3R1 gene.
More info about this panelAgammaglobulinemia NGS PANEL Panel
By Laboratorio de Genetica Clinica SL Agammaglobulinemia NGS PANEL that also includes the following genes: BTK TCF3 BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelSHORT Syndrome , Sequencing PIK3R1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PIK3R1 gene.
More info about this panelCommon Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel
By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA
More info about this panelAgammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panel152 Integrated Advantage NGS Solid Tumor Panel Panel
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelCEN4GEN Breast cancer: Extended gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16
More info about this panelCEN4GEN Colorectal cancer: Extended Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Colorectal cancer: Extended Sequencing Panel that also includes the following genes: BRAF TCF7L2 TGFBR2 TP53 CASP8 TCERG1 GALNT17 FBXW7 ACVR1B CDC27
More info about this panelCEN4GEN Ovarian cancer: Extended gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Ovarian cancer: Extended gene sequencing Panel that also includes the following genes: BRAF BRCA1 BRCA2 ARID1A TP53 USP16 MAS1L CCNE1 CBLC KREMEN1
More info about this panelSHORT Syndrome: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PIK3R1 gene.
More info about this panelPrimBio Colorectal Cancer Panel Panel
By PrimBio Research Institute PrimBio Research Institute PrimBio Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A SCG5 BRAF BRCA1 STK11 BUB1B EPCAM TCF7L2 TGFBR2
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