PYGL gene related symptoms and diseases
All the information presented here about the PYGL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PYGL gene
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Very Common - Between 80% and 100% cases |
Hypoglycemia | Very Common - Between 80% and 100% cases |
Intellectual disability | Uncommon - Between 30% and 50% cases |
Global developmental delay | Uncommon - Between 30% and 50% cases |
Growth delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PYGL gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Failure to thrive
- Hepatomegaly
- Fatigue
- Postnatal growth retardation
- Hypertriglyceridemia
- Hyperlipidemia
- Hypercholesterolemia
- Ketosis
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PYGL gene
Here you will find a list of rare diseases related to the PYGL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY
Alternate names
GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as liver glycogen phosphorylase deficiency, glycogen storage disease type vi, gsd type 6, glycogen storage disease type 6, gsd type vi, hepatic glycogen phosphorylase deficiency, glycogenosis type 6, gsd due to liver glycogen phosphorylase deficiency, glycogenosis t
Description
Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.
Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY
- Short stature
- Hypoglycemia
More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY
SOURCES: ORPHANET
GLYCOGEN STORAGE DISEASE VI; GSD6
Alternate names
GLYCOGEN STORAGE DISEASE VI; GSD6 Is also known as phosphorylase deficiency glycogen-storage disease of liver, hers disease, gsd vi
Most common symptoms of GLYCOGEN STORAGE DISEASE VI; GSD6
- Intellectual disability
- Global developmental delay
- Short stature
- Growth delay
- Failure to thrive
More info about GLYCOGEN STORAGE DISEASE VI; GSD6
SOURCES: OMIM
Search interest in PYGL
Potential gene panels for PYGL gene
MitoMet®Plus aCGH Analysis Panel
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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 panel![](/img/flags/United-states.png)
PYGL Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/United-states.png)
PYGL Comprehensive - Sequence & Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/United-states.png)
PYGL Sequence Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/United-states.png)
PYGL Sequence Analysis (Prenatal Diagnosis) Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Mitochondrial Metabolic Panel Panel
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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 panel![](/img/flags/United-states.png)
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel Panel
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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 panel![](/img/flags/Czech-republic.png)
Glycogen Storage Disease- Liver Panel
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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 panel![](/img/flags/United-kingdom.png)
PYGL. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Ketotic Hypoglycemia Seq + Del/Dup Panel Panel
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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 panel![](/img/flags/United-states.png)
Ketotic Hypoglycemia Del/Dup Panel Panel
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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 panel![](/img/flags/United-states.png)
Glycogen Storage Disease Del/Dup Panel Panel
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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 panel![](/img/flags/United-states.png)
Ketotic Hypoglycemia Seq Analysis Panel
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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 panel![](/img/flags/United-states.png)
Glycogen Storage Disease Seq + Del/Dup Panel Panel
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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 panel![](/img/flags/United-states.png)
Glycogen Storage Disease Seq Analysis Panel
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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 panel![](/img/flags/United-states.png)
Glycogen storage disease type VIb (sequence analysis of PYGL gene) Panel
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By CGC Genetics
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Glycogen storage disease (NGS panel for 13 genes) Panel
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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 panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Glycogen storage disease (NGS panel for 22 genes) Panel
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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 panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection Panel
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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 panel![](/img/flags/United-states.png)
Metabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
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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 panel![](/img/flags/United-states.png)
Glycogen Storage Disease Type VI via PYGL Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/United-states.png)
Mental Retardation and Dysmorphology - panels Panel
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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 panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Syndromal Diseases - panels Panel
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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 panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Glycogen storage disease type VIB Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Glycogen Storage Disease Panel
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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 panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
PYGL Panel
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By Division Human Genetics Medical University Innsbruck
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Invitae Liver Glycogen Storage Disease Panel Panel
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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 panel![](/img/flags/United-states.png)
Invitae Comprehensive Glycogen Storage Disease Panel Panel
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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 panel![](/img/flags/United-states.png)
GLYCOGEN STORAGE DISEASE Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Glycogen Storage Disorders- Liver: Sequencing Panel Panel
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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 panel![](/img/flags/United-states.png)
Glycogen Storage Disorders: Comprehensive Sequencing Panel Panel
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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 panel![](/img/flags/United-states.png)
Inherited Metabolic Disorders: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel![](/img/flags/United-states.png)
Glycogen Storage Disorders- Liver: Deletion/Duplication Panel Panel
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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 panel![](/img/flags/United-states.png)
Glycogen Storage Disorders: Deletion/Duplication Panel Panel
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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 panel![](/img/flags/United-states.png)
Intellectual Disability NGS Panel Panel
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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 panel![](/img/flags/United-states.png)
PYGL Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/United-states.png)
Glycogen Storage Disorder Panel Panel
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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 panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Metabolism Panel Panel
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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 panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
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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 panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Metabolic Liver Failure Panel Panel
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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 panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Glycogen storage disease type 6 Panel
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By Bioarray
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
GLYCOGEN STORAGE DISEASE, TYPE 6 Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
GLYCOGEN STORAGE: NGS PANEL Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Glycogen Storage Disease Type 6, Sequencing PYGL Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes Panel
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By Reference Laboratory Genetics Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SLC2A2 AGL G6PC SLC37A4 GAA GBE1 GYS2 PFKM PHKA2 PYGL
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Glycogen Storage Disease Type VI: gene sequencing Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PYGL gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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