PIK3R2 gene related symptoms and diseases
All the information presented here about the PIK3R2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PIK3R2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Cortical dysplasia | Very Common - Between 80% and 100% cases |
| Abnormal cardiac septum morphology | Very Common - Between 80% and 100% cases |
| Polymicrogyria | Very Common - Between 80% and 100% cases |
| Postaxial polydactyly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PIK3R2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Postaxial hand polydactyly
- Intellectual disability, profound
- Mitral regurgitation
- Pachygyria
- Knee flexion contracture
- Large for gestational age
- Infantile spasms
- Telecanthus
And 37 more phenotypes, you can get all of them using our tools for rare diseases.
Accelerate your rare disease diagnosis with us
Rare diseases associated to PIK3R2 gene
Here you will find a list of rare diseases related to the PIK3R2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME
Alternate names
MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome, mpph syndrome, megalencephaly, polymicrogyria, mega corpus callosum syndrome, mpph, megalencephaly, mega corpus callosum, and complete lack of motor development
Description
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.
Most common symptoms of MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME
Search interest in PIK3R2
Potential gene panels for PIK3R2 gene
Somatic Overgrowth Gene Panel Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Somatic Overgrowth Gene Panel that also includes the following genes: AKT1 AKT2 AKT3 MTOR GNA11 GNAQ PIK3CA PIK3R2
More info about this panelSegmental Overgrowth Disorders - NGS panel (8 genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Segmental Overgrowth Disorders - NGS panel (8 genes) that also includes the following genes: TSC1 TSC2 AKT1 AKT3 MTOR PIK3CA PIK3R2 PTEN
More info about this panelPIK3R2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PIK3R2 gene.
More info about this panelMacrocephaly (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Macrocephaly (NGS panel for 16 genes) that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA
More info about this panelMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, sequence analysis of PIK3R2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PIK3R2 gene.
More info about this panelMegalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel
Portugal.
By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2
More info about this panelMegalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel
Portugal.
By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2
More info about this panelHydrocephalus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3
More info about this panelMegalencephaly-polymicrogyria-polydactyly-hydrocephalus Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Comprehensive test that also includes the following genes: CCND2 AKT3 PIK3R2
More info about this panelMegalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS test Panel
United States.
By Connective Tissue Gene Tests Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS test that also includes the following genes: CCND2 AKT3 PIK3R2
More info about this panelMegalencephaly-polymicrogyria-polydactyly-hydrocephalus Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Deletion / Duplication test that also includes the following genes: CCND2 AKT3 PIK3R2
More info about this panelMental 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 panelMacrocephaly Panel
Germany.
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panelMental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelMegalencephaly Panel
Germany.
By MGZ Medical Genetics Center Megalencephaly that also includes the following genes: TSC1 TSC2 CCND2 AKT1 AKT3 PIK3CA PIK3R2 PTEN
More info about this panelMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PIK3R2 gene.
More info about this panelAllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelNeuronal Migration Disorders Panel Panel
Germany.
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelRASopathies Panel Panel
Germany.
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panelMacrocephaly Panel Panel
Germany.
By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3
More info about this panelNeuronal Migration Disorders Panel Panel
Germany.
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelMacrocephaly Panel Panel
Germany.
By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3
More info about this panelRASopathies Panel Panel
Germany.
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panelRASopathies Panel Panel
Germany.
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panelSingle gene testing PIK3R2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PIK3R2 gene.
More info about this panelBrain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panelInvitae Overgrowth and Macrocephaly Syndromes Panel Panel
United States.
By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2
More info about this panelNOONAN, 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 panelPIK3R2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PIK3R2 gene.
More info about this panelMacrocephaly / Overgrowth Syndrome Panel Panel
Finland.
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panelNeuronal Migration Disorder Panel Panel
Finland.
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panelSomatic Overgrowth Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Somatic Overgrowth Gene Set that also includes the following genes: SMO TSC1 TSC2 AKT1 AKT2 AKT3 MTOR GNA11 GNAQ IDH1
More info about this panelSolid 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 panelGynecologic 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 panelFoundationOne® 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 panelNeoTYPE® 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 panelCaris 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 panelProvidence 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 panelMegalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Type 1 , Sequencing PIK3R2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PIK3R2 gene.
More info about this panelPolymicrogyria , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TUBA8 FIG4 TUBA1A TUBB3 SRPX2 TUBB2B AKT3 ADGRG1 OCLN PIK3R2
More info about this panelMacrocephaly , Panel Massive Sequencing (NGS) 16 Genes Panel
Spain.
By Reference Laboratory Genetics Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA
More info about this panelMalformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel
Spain.
By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM
More info about this panelMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the PIK3R2 gene.
More info about this panel152 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 panelTempus 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 panelTempus 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 panelMegalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome (MPPH Syndrome): gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome (MPPH Syndrome): gene sequencing panel that also includes the following genes: CCND2 AKT3 PIK3R2
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HADH PTEN PBX1 MIPEP AKR1D1 TEX14 IFNGR1
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
