PHKG2 gene related symptoms and diseases
All the information presented here about the PHKG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PHKG2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Lactic acidosis | Very Common - Between 80% and 100% cases |
Portal fibrosis | Very Common - Between 80% and 100% cases |
Bile duct proliferation | Very Common - Between 80% and 100% cases |
Fasting hypoglycemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PHKG2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent hypoglycemia
- Ketosis
- Hypercholesterolemia
- Hyperlipidemia
- Decreased liver function
- Hepatic fibrosis
- Hypertriglyceridemia
- Abdominal distention
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PHKG2 gene
Here you will find a list of rare diseases related to the PHKG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY
Alternate names
GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc, gsd due to liver phosphorylase kinase deficiency, xlg, glycogen storage disease type 9c, glycogen storage disease type 9a, gsd ixc, gsd type 9c, glycogen storage disease type ixc, glycogenosis due to liver phosphorylase kinase deficiency, glycogenosi
Description
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY
Search interest in PHKG2
Potential gene panels for PHKG2 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelPHKA1 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories PHKA1 Deletion/Duplication Analysis that also includes the following genes: PHKA1 PHKG2
More info about this panelPHKG2 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PHKG2 gene.
More info about this panelPHKG2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PHKG2 gene.
More info about this panelPHKG2 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PHKG2 gene.
More info about this panelPHKG2 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PHKG2 gene.
More info about this panelComprehensive Mitochondrial Metabolic Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelGlycogen Storage Disease and Gluconeogenesis Sequencing Panel Panel
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Glycogen Storage Disease and Gluconeogenesis Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panelGlycogen Storage Disease- Liver Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Liver that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYG2 GYS2 PFKL PHKA2
More info about this panelKetotic Hypoglycemia Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Seq + Del/Dup Panel that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panelKetotic Hypoglycemia Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Del/Dup Panel that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panelGlycogen Storage Disease Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panelKetotic Hypoglycemia Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Seq Analysis that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panelGlycogen Storage Disease Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq + Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panelGlycogen Storage Disease Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq Analysis that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panelGlycogen storage disease type IXc (sequence analysis of PHKG2 gene) Panel
By CGC Genetics
This panel specifically test the PHKG2 gene.
More info about this panelGlycogen storage disease (NGS panel for 13 genes) Panel
By CGC Genetics Glycogen storage disease (NGS panel for 13 genes) that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1 PHKA2
More info about this panelGlycogen storage disease (NGS panel for 22 genes) Panel
By CGC Genetics Glycogen storage disease (NGS panel for 22 genes) that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panelGlycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panelMetabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Metabolic Hypoglycemia Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 ACSF3 AGL FBP1 G6PC SLC37A4 GALT ALDOB GYS2
More info about this panelGlycogen Storage Disease Type IX via PHKG2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PHKG2 gene.
More info about this panelMental Retardation and Dysmorphology - panels Panel
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
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 panelGlycogen storage disease type 9C Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PHKG2 gene.
More info about this panelMetabolic Myopathies Panel Panel
By CeGaT GmbH Metabolic Myopathies Panel that also includes the following genes: SLC16A1 SLC22A5 TAZ LPIN1 SLC25A20 PUS1 RBCK1 RRM2B ABHD5 ACAD9
More info about this panelGlycogen Storage Disease Panel
By Asper Biogene Asper Biogene LLC Glycogen Storage Disease that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1 GYG1
More info about this panelPHKG2 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the PHKG2 gene.
More info about this panelInvitae Liver Glycogen Storage Disease Panel Panel
By Invitae Invitae Liver Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panelInvitae Comprehensive Glycogen Storage Disease Panel Panel
By Invitae Invitae Comprehensive Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 RBCK1 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1
More info about this panelGLYCOGEN STORAGE DISEASE Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases GLYCOGEN STORAGE DISEASE that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panelGlycogen Storage Disorders- Liver: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Liver: Sequencing Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panelGlycogen Storage Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Comprehensive Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panelGlycogen Storage Disorders- Liver: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Liver: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panelGlycogen Storage Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelPHKG2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PHKG2 gene.
More info about this panelGlycogen Storage Disorder Panel Panel
By Blueprint Genetics Glycogen Storage Disorder Panel that also includes the following genes: SLC2A2 RBCK1 NHLRC1 AGL ENO3 EPM2A FBP1 G6PC SLC37A4 GAA
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelHypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3
More info about this panelMetabolic Liver Failure Panel Panel
By Blueprint Genetics Metabolic Liver Failure Panel that also includes the following genes: SMPD1 NPC2 FAH GALE GALK1 GALT ALDOB LIPA MPI NPC1
More info about this panelGLYCOGEN STORAGE DISEASE, TYPE 9C Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PHKG2 gene.
More info about this panelGLYCOGEN STORAGE: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL GLYCOGEN STORAGE: NGS PANEL that also includes the following genes: AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1 GYS2
More info about this panelPhosphorylase Kinase Deficiency , Panel Massive Sequencing (NGS) PHKA1, PHKA2, PHKB, PHKG2 Genes Panel
By Reference Laboratory Genetics Phosphorylase Kinase Deficiency , Panel Massive Sequencing (NGS) PHKA1, PHKA2, PHKB, PHKG2 Genes that also includes the following genes: PHKA1 PHKA2 PHKB PHKG2
More info about this panelPhosphorylase Kinase Deficiency: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Phosphorylase Kinase Deficiency: gene sequencing panel that also includes the following genes: PHKA1 PHKA2 PHKB PHKG2
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