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.

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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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET OMIM

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


Potential gene panels for PIK3R1 gene

PIK3R1 Sequencing Panel

United States.

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 panel

PIK3R1 Deletion/duplication analysis Panel

United States.

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 panel

Partial Lipodystrophy Deletion/Duplication Panel Panel

United States.

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 panel

Comprehensive Lipodystrophy Deletion/Duplication Panel Panel

United States.

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 panel

Comprehensive Lipodystrophy Panel Panel

United States.

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 panel

Partial Lipodystrophy Panel Panel

United States.

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 panel

PIK3R1 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the PIK3R1 gene.

More info about this panel

Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel

United States.

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 panel

Humoral dysfunction Del/Dup Panel Panel

United States.

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 panel

Humoral dysfunction Seq Analysis Panel

United States.

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 panel

Humoral dysfunction Seq + Del/Dup Panel Panel

United States.

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 panel

SHORT syndrome (sequence analysis of PIK3R1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PIK3R1 gene.

More info about this panel

Lipodystrophies (NGS panel for 17 genes) Panel

Portugal.

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 panel

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

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 panel

Lipodystrophies (NGS panel for 17 genes) Panel

Portugal.

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 panel

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

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 panel

Agammaglobulinemia Sequencing Panel with CNV Detection Panel

United States.

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 panel

Mental retardation - different panels Panel

Germany.

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 panel

Solid Tumor Panel Panel

Germany.

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 panel

Immunodeficiency type 36 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PIK3R1 gene.

More info about this panel

SHORT syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PIK3R1 gene.

More info about this panel

Agammaglobulinemia type 7, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PIK3R1 gene.

More info about this panel

Agammaglobulinemia panel Panel

Germany.

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 panel

Antibody deficiencies Panel Panel

Germany.

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 panel

Invitae Common Variable Immunodeficiency Panel Panel

United States.

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 panel

Invitae Agammaglobulinemia Panel Panel

United States.

By Invitae Invitae Agammaglobulinemia Panel that also includes the following genes: BTK BLNK CD79A CD79B IGLL1 PIK3R1

More info about this panel

Invitae Monogenic Autoimmunity Panel Panel

United States.

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 panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

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 panel

Invitae Primary Immunodeficiency Panel Panel

United States.

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 panel

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Spain.

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 panel

PIK3R1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PIK3R1 gene.

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

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 panel

Primary Immunodeficiency Panel Panel

Finland.

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 panel

Solid Tumor Gene Set Panel

United States.

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 panel

CNS Tumor Gene Set Panel

United States.

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 panel

Breast Tumors Gene Set Panel

United States.

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 panel

Genitourinary Tumors Gene Set Panel

United States.

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 panel

Gynecologic Tumors Gene Set Panel

United States.

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 panel

Head & Neck Tumors Gene Set Panel

United States.

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 panel

FoundationOne® Heme Panel

United States.

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 panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

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 panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

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 panel

OmniSeq Comprehensive Panel

United States.

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 panel

LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL Panel

Spain.

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 panel

SHORT SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PIK3R1 gene.

More info about this panel

Agammaglobulinemia NGS PANEL Panel

Spain.

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 panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

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 panel

SHORT Syndrome , Sequencing PIK3R1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PIK3R1 gene.

More info about this panel

Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel

Spain.

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 panel

Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

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 panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

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 panel

Tempus xT assay Panel

United States.

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 panel

Tempus xO assay Panel

United States.

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 panel

CEN4GEN Breast cancer: Extended gene sequencing Panel Panel

Canada.

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 panel

CEN4GEN Colorectal cancer: Extended Sequencing Panel Panel

Canada.

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 panel

CEN4GEN Ovarian cancer: Extended gene sequencing Panel Panel

Canada.

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 panel

SHORT Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PIK3R1 gene.

More info about this panel

PrimBio Colorectal Cancer Panel Panel

United States.

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

More info about this panel


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