Glycogen Storage Disease Ixc; Gsd9c

Description

Glycogen storage disease IXc is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis (Burwinkel et al., 1998).

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Ixc; Gsd9c

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Motor delay
  • Muscular hypotonia
  • Muscle weakness
And another 20 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Glycogen Storage Disease Ixc; Gsd9c have a estimated birth prevalence of 1 per 100k worldwide.


Mendelian

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Glycogen Storage Disease Ixc; Gsd9c Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
PHKA1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PHKG2, PHKA1
Specificity
50 %
Genes
50 %
PHKG2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PHKG2
Specificity
100 %
Genes
50 %
PHKG2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PHKG2
Specificity
100 %
Genes
50 %
PHKG2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PHKG2
Specificity
100 %
Genes
50 %
PHKG2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PHKG2
Specificity
100 %
Genes
50 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
2 %
Genes
100 %
Glycogen Storage Disease- Liver.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2, PFKL, GYG2
Specificity
16 %
Genes
100 %
Ketotic Hypoglycemia Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
20 %
Genes
100 %
Ketotic Hypoglycemia Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
20 %
Genes
100 %
Glycogen Storage Disease Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
12 %
Genes
100 %
Ketotic Hypoglycemia Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
20 %
Genes
100 %
Glycogen Storage Disease Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
12 %
Genes
100 %
Glycogen Storage Disease Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
12 %
Genes
100 %
Glycogen storage disease type IXc (sequence analysis of PHKG2 gene).

By CGC Genetics in Portugal.

PHKG2
Specificity
100 %
Genes
50 %
Glycogen storage disease (NGS panel for 13 genes).

By CGC Genetics in Portugal.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2, PCK1
Specificity
16 %
Genes
100 %
Glycogen storage disease (NGS panel for 22 genes).

By CGC Genetics in Portugal.

AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, PRKAG2 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ALDOA, ALDOB, PC, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PCK2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Metabolic Hypoglycemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ACAT1, ALDOB, FBP1, PC, GYS2, SLC37A4, SLC16A1, ACSF3, PHKA2, PCK2, HMGCL, PYGL, G6PC, PHKG2, PGM1, PHKB, MLYCD, OXCT1, GALT , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Glycogen Storage Disease Type IX via PHKG2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PHKG2
Specificity
100 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Glycogen storage disease type 9C.

By Centogene AG - the Rare Disease Company in Germany.

PHKG2
Specificity
100 %
Genes
50 %
Metabolic Myopathies Panel.

By CeGaT GmbH in Germany.

ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, YARS2, GAA, SLC16A1, CPT2, RRM2B, HADHA, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Glycogen Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
100 %
PHKG2.

By Division Human Genetics Medical University Innsbruck in Austria.

PHKG2
Specificity
100 %
Genes
50 %
Invitae Liver Glycogen Storage Disease Panel.

By Invitae in United States.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2
Specificity
19 %
Genes
100 %
Invitae Comprehensive Glycogen Storage Disease Panel.

By Invitae in United States.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
GLYCOGEN STORAGE DISEASE.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
Glycogen Storage Disorders- Liver: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2
Specificity
19 %
Genes
100 %
Glycogen Storage Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2
Specificity
10 %
Genes
100 %
Glycogen Storage Disorders- Liver: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2
Specificity
19 %
Genes
100 %
Glycogen Storage Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2
Specificity
10 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
PHKG2.

By Fulgent Genetics Fulgent Genetics in United States.

PHKG2
Specificity
100 %
Genes
50 %
Glycogen Storage Disorder Panel.

By Blueprint Genetics in Finland.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
100 %
Metabolic Liver Failure Panel.

By Blueprint Genetics in Finland.

ALDOB, ATP7B, SMPD1, PHKA2, FAH, PYGL, PHKG2, MPI, PHKB, GALT, GALE, GALK1, LIPA, NPC1, NPC2, SERPINA1
Specificity
13 %
Genes
100 %
GLYCOGEN STORAGE DISEASE, TYPE 9C.

By Laboratorio de Genetica Clinica SL in Spain.

PHKG2
Specificity
100 %
Genes
50 %
GLYCOGEN STORAGE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, GYG1
Specificity
11 %
Genes
100 %
Phosphorylase Kinase Deficiency , Panel Massive Sequencing (NGS) PHKA1, PHKA2, PHKB, PHKG2 Genes.

By Reference Laboratory Genetics in Spain.

PHKA2, PHKG2, PHKA1, PHKB
Specificity
50 %
Genes
100 %
Phosphorylase Kinase Deficiency: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PHKA2, PHKG2, PHKA1, PHKB
Specificity
50 %
Genes
100 %
PHKA2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PHKA2
Specificity
100 %
Genes
50 %
PHKA2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PHKA2
Specificity
100 %
Genes
50 %
PHKA2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PHKA2
Specificity
100 %
Genes
50 %
PHKA2 Mutation Analysis.

By Molecular Diagnostics Laboratory Duke University Health System in United States.

PHKA2
Specificity
100 %
Genes
50 %
PHKA2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PHKA2
Specificity
100 %
Genes
50 %
Glycogen storage disease type IXa1 (sequence analysis of PHKA2 gene).

By CGC Genetics in Portugal.

PHKA2
Specificity
100 %
Genes
50 %
Glycogen Storage Disease Type IX via the PHKA2 Gene.

By PreventionGenetics PreventionGenetics in United States.

PHKA2
Specificity
100 %
Genes
50 %
Glycogen storage disease type IX.

By Centogene AG - the Rare Disease Company in Germany.

PHKA2
Specificity
100 %
Genes
50 %
PHKA2.

By Division Human Genetics Medical University Innsbruck in Austria.

PHKA2
Specificity
100 %
Genes
50 %
PHKA2.

By Fulgent Genetics Fulgent Genetics in United States.

PHKA2
Specificity
100 %
Genes
50 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
50 %
Glycogen storage disease type IX.

By Bioarray in Spain.

PHKA2
Specificity
100 %
Genes
50 %
GLYCOGEN STORAGE DISEASE, TYPE 9A.

By Laboratorio de Genetica Clinica SL in Spain.

PHKA2
Specificity
100 %
Genes
50 %
Glycogen Storage Disease Type 9, Sequencing PHKA2 Gene.

By Reference Laboratory Genetics in Spain.

PHKA2
Specificity
100 %
Genes
50 %
Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

AGL, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PFKM, PYGM, GBE1, SLC2A2
Specificity
10 %
Genes
50 %
Phosphorylase Kinase Deficiency: gene deletion/duplication panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PHKA2, PHKB
Specificity
50 %
Genes
50 %

Alternate names

Glycogen Storage Disease Ixc; Gsd9c Is also known as gsd ixc;gsd due to liver phosphorylase kinase deficiency; gsd type 9a; gsd type 9c; gsd type ixa; gsd type ixc; glycogen storage disease type 9a; glycogen storage disease type 9c; glycogen storage disease type ixa; glycogen storage disease type ixc; glycogenosis due to liver phosphorylase kinase deficiency; glycogenosis type 9a; glycogenosis type 9c; glycogenosis type ixa; glycogenosis type ixc; xlg.


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