MCID: GLY013
MIFTS: 61

Glycogen Storage Disease

Categories: Metabolic diseases, Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Endocrine diseases

Aliases & Classifications for Glycogen Storage Disease

MalaCards integrated aliases for Glycogen Storage Disease:

Name: Glycogen Storage Disease 38 12 76 54 29 55 6 44 15 73
Glycogenosis 12 76
Glycogen Storage Diseases 37
Storage Disease, Glycogen 40
Glycogenoses 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2747
ICD10 33 E74.0 E74.00
ICD9CM 35 271.0
MeSH 44 D006008
NCIt 50 C61272
KEGG 37 H00069
UMLS 73 C0017919

Summaries for Glycogen Storage Disease

NINDS : 54 Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.  It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).  Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy.  The enzyme performs its function in intracellular compartments called lysosomes.  Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme.  Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.  Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity.  The severity of the disease and the age of onset are related to the degree of enzyme deficiency.  Early onset (or  the infantile form) is the result of complete or near complete deficiency of GAA.  Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections.  The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues.  Most babies die from cardiac or respiratory complications before their first birthday.  Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA.  The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood.  The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years.  The heart is usually not involved.  A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample.  Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended.  Carriers are most reliably identified via genetic mutation analysis.

MalaCards based summary : Glycogen Storage Disease, also known as glycogenosis, is related to glycogen storage disease vi and glycogen storage disease due to glucose-6-phosphatase deficiency. An important gene associated with Glycogen Storage Disease is GAA (Glucosidase Alpha, Acid), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Starch and sucrose metabolism. The drugs Methotrexate and rituximab have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and testes, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A glycogen metabolism disorder that has material basis in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Wikipedia : 76 A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by... more...

Related Diseases for Glycogen Storage Disease

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease vi 35.0 G6PC PYGL PYGM
2 glycogen storage disease due to glucose-6-phosphatase deficiency 34.9 G6PC SLC37A4
3 glycogen storage disease vii 34.9 GBE1 PFKM PYGM
4 glycogen storage disease iii 34.7 AGL G6PC GAA GBE1 PYGL
5 glycogen storage disease iv 34.6 AGL G6PC GAA GBE1 PYGL
6 glycogen storage disease ia 34.6 AGL G6PC GBE1 PHKA2 SLC37A4
7 glycogen storage disease x 34.6 PGAM2 PHKA2
8 glycogen storage disease due to liver phosphorylase kinase deficiency 34.3 PHKA2 PHKG2
9 glycogen storage disease type 0 33.9 AGL GYG1 GYS1 GYS2
10 glycogen storage disease v 33.8 GAA PFKM PHKA1 PYGL PYGM
11 glycogen storage disease ii 33.7 GAA LAMP2 PRKAG2 PYGM
12 danon disease 33.1 GAA LAMP2 PRKAG2
13 phosphorylase kinase deficiency 32.1 PHKA1 PHKA2 PHKB PHKG2 PRKAG2
14 hypoglycemia 30.8 AGL G6PC GYS2
15 fasting hypoglycemia 30.2 GYS1 GYS2
16 myopathy 26.8 AGL ALDOA GAA GBE1 GYG1 LAMP2
17 glycogen storage disease 0, liver 12.7
18 glycogen storage disease, type ixd 12.7
19 glycogen storage disease ixc 12.7
20 glycogen storage disease ixa1 12.7
21 glycogen storage disease 0, muscle 12.7
22 glycogen storage disease xii 12.6
23 glycogen storage disease ixb 12.6
24 glycogen storage disease ic 12.6
25 glycogen storage disease xiii 12.6
26 glycogen storage disease xv 12.6
27 glycogen storage disease ib 12.6
28 glycogen storage disease ixa 12.6
29 glycogen storage disease viii 12.5
30 glycogen storage disease of heart, lethal congenital 12.5
31 glycogen storage disease due to glycogen branching enzyme deficiency 12.4
32 fanconi-bickel syndrome 12.4
33 glycogen storage disease ix 12.3
34 glycogen storage disease due to acid maltase deficiency, infantile onset 12.3
35 glycogen storage disease due to acid maltase deficiency, late-onset 12.3
36 pulmonary interstitial glycogenosis 12.1
37 glycogen storage disease due to lactate dehydrogenase deficiency 12.1
38 phosphoglycerate mutase deficiency 11.6
39 congenital disorder of glycosylation, type it 11.5
40 phosphoglycerate kinase 1 deficiency 11.4
41 lactate dehydrogenase b deficiency 11.4
42 hepatic adenomas, familial 11.4
43 polyglucosan body myopathy 2 11.3
44 hepatoblastoma 11.3
45 hyperlipoproteinemia, type v 11.0
46 macroglossia 11.0
47 lactate dehydrogenase deficiency 11.0
48 type i 10.7
49 hepatitis 10.6
50 adenoma 10.5

Graphical network of the top 20 diseases related to Glycogen Storage Disease:



Diseases related to Glycogen Storage Disease

Symptoms & Phenotypes for Glycogen Storage Disease

GenomeRNAi Phenotypes related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.78 PHKA2 PHKG2 PRKAG2 PFKM
2 Decreased viability GR00221-A-2 10.78 PHKA1 PHKA2 PHKB PHKG2 PRKAG2 PFKM
3 Decreased viability GR00221-A-3 10.78 PHKA1 PHKA2 PHKB PFKM
4 Decreased viability GR00221-A-4 10.78 PHKA2 PHKB
5 Decreased viability GR00240-S-1 10.78 ALDOA ENO3
6 Decreased viability GR00342-S-1 10.78 PHKA2
7 Decreased viability GR00342-S-2 10.78 PHKA2
8 Decreased viability GR00342-S-3 10.78 PHKA2
9 Decreased viability GR00402-S-2 10.78 PHKA2 PHKB PHKG2 PRKAG2 PFKM PHKA1
10 no effect GR00402-S-1 9.96 AGL ALDOA ENO3 G6PC GAA GBE1
11 Apoptosis resistance GR00093-A-0 9.43 G6PC PFKM PHKA2
12 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 GAA PFKM PHKA1 PHKA2 PHKB PYGL

MGI Mouse Phenotypes related to Glycogen Storage Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 AGL G6PC GAA GBE1 GYS1 GYS2
2 homeostasis/metabolism MP:0005376 9.93 PYGM SLC37A4 AGL G6PC GAA GBE1
3 liver/biliary system MP:0005370 9.56 G6PC GBE1 GYS1 GYS2 LAMP2 PRKAG2
4 muscle MP:0005369 9.32 AGL GAA GBE1 GYS1 GYS2 LAMP2

Drugs & Therapeutics for Glycogen Storage Disease

Drugs for Glycogen Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 102)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
2
rituximab Approved Phase 4,Phase 1 174722-31-7 10201696
3
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
4
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
7 Antimetabolites Phase 4
8 Antimetabolites, Antineoplastic Phase 4
9 Antirheumatic Agents Phase 4,Phase 1
10 Dermatologic Agents Phase 4,Phase 1
11 Folic Acid Antagonists Phase 4
12 Immunosuppressive Agents Phase 4,Phase 1
13 Nucleic Acid Synthesis Inhibitors Phase 4
14 Vitamin B Complex Phase 4
15 Adrenergic Agents Phase 4,Phase 1,Phase 2
16 Adrenergic Agonists Phase 4,Phase 1,Phase 2
17 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
18 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
19 Albuterol Phase 4,Phase 1,Phase 2
20 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
21 Autonomic Agents Phase 4,Phase 1,Phase 2
22 Bronchodilator Agents Phase 4,Phase 1,Phase 2
23 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Early Phase 1
24 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
25 Respiratory System Agents Phase 4,Phase 1,Phase 2
26 Tocolytic Agents Phase 4,Phase 1,Phase 2
27 Antibodies Phase 4,Phase 1
28 gamma-Globulins Phase 4,Phase 1
29 Immunoglobulins Phase 4,Phase 1
30 Immunoglobulins, Intravenous Phase 4,Phase 1
31 Rho(D) Immune Globulin Phase 4,Phase 1
32 Alkylating Agents Phase 4
33 Antineoplastic Agents, Alkylating Phase 4
34 Folate Nutraceutical Phase 4
35 Vitamin B9 Nutraceutical Phase 4
36 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
37
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
38
Clenbuterol Approved, Investigational, Vet_approved Phase 1, Phase 2 37148-27-9 2783
39
Miglustat Approved Phase 1, Phase 2 72599-27-0 51634
40 Anticonvulsants Phase 2,Early Phase 1
41 Antimanic Agents Phase 2
42 Central Nervous System Depressants Phase 2,Phase 1
43 GABA Agents Phase 2
44 Psychotropic Drugs Phase 2
45 Tranquilizing Agents Phase 2
46 Anti-HIV Agents Phase 1, Phase 2
47 Anti-Infective Agents Phase 1, Phase 2
48 Anti-Retroviral Agents Phase 1, Phase 2
49 Antiviral Agents Phase 1, Phase 2
50 Cardiac Glycosides Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 121)
# Name Status NCT ID Phase Drugs
1 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
2 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
3 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
4 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Completed NCT00701129 Phase 4 Methotrexate;Rituximab
5 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
6 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4 Salbutamol
7 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
8 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
9 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
10 Immune Tolerance Induction Study Active, not recruiting NCT00701701 Phase 4
11 A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease Terminated NCT01597596 Phase 4
12 A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease Terminated NCT01526785 Phase 4 Alglucosidase alfa
13 A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease Completed NCT00059280 Phase 2, Phase 3
14 Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602 Completed NCT00125879 Phase 2, Phase 3
15 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
16 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed NCT00158600 Phase 3 Placebo
17 Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease Recruiting NCT02782741 Phase 3 GZ402666;alglucosidase alfa (GZ419829)
18 NeoGAA Extension Study Enrolling by invitation NCT02032524 Phase 2, Phase 3 GZ402666
19 BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) Terminated NCT01924845 Phase 3 BMN 701
20 Triheptanoin in Mc Ardle Unknown status NCT02919631 Phase 2 Triheptanoin;Placebo oil
21 A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II Completed NCT00051935 Phase 2 Alglucosidase alfa
22 rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease) Completed NCT00053573 Phase 1, Phase 2
23 Sodium Valproate for GSDV Completed NCT03112889 Phase 2 Sodium Valproate
24 Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies Completed NCT00763932 Phase 2
25 Extension Study of Long-term Safety and Efficacy of Myozyme for a Single Patient With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored ERT Studies. Completed NCT00765414 Phase 2
26 A Study of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
27 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2 Triheptanoin
28 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Completed NCT00976352 Phase 1, Phase 2 rAAV1-CMV-GAA (study agent) Administration
29 Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease Completed NCT00025896 Phase 2 recombinant human acid alpha-glucosidase (rhGAA)
30 Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy Completed NCT01942590 Phase 1, Phase 2 Clenbuterol;Placebo
31 Safety and Efficacy of Albuterol in Individuals With Late-onset Pompe Disease Completed NCT01885936 Phase 1, Phase 2 Albuterol;Placebo
32 Drug-drug Interaction Study Completed NCT01380743 Phase 2 duvoglustat hydrochloride
33 Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease Completed NCT01230801 Phase 1, Phase 2
34 Study of ORL-1G in Patients With Glycogen Storage Disease Type 14 Recruiting NCT03404856 Phase 1, Phase 2 ORL-1G
35 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) Recruiting NCT02432768 Phase 2 Triheptanoin
36 Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa) Recruiting NCT03517085 Phase 1, Phase 2
37 VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease Recruiting NCT02898753 Phase 1, Phase 2 VAL-1221 3 mg/kg;VAL-1221 10 mg/kg;VAL-1221 30 mg/kg;RhGAA
38 A Study to Assess Safety and Efficacy of NeoGAA Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa Recruiting NCT03019406 Phase 2 GZ402666;alglucosidase alfa GZ419829
39 First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 Recruiting NCT02675465 Phase 1, Phase 2 ATB200;AT2221
40 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Recruiting NCT03181399 Phase 2 Triheptanoin
41 AAV2/8-LSPhGAA in Late-Onset Pompe Disease Not yet recruiting NCT03533673 Phase 1, Phase 2
42 A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Terminated NCT02191917 Phase 2
43 Extension Study for Patients Who Have Participated in a BMN 701 Study Terminated NCT01435772 Phase 2
44 Study to Evaluate the Safety of AT2220 in Pompe Disease Terminated NCT00688597 Phase 2 AT2220;AT2220;AT2220
45 High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease Withdrawn NCT01656590 Phase 2
46 Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. Completed NCT01898364 Phase 1 GZ402666
47 Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Completed NCT01859624 Phase 1 Albuterol
48 Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Recruiting NCT02240407 Phase 1 Rapamycin;Rituxan;Diphenhydramine;Acetaminophen;Lidocaine;LMX 4 Topical Cream
49 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1 Zavesca® Prescription
50 Treatment Development of Triheptanoin (G1D) Active, not recruiting NCT03041363 Phase 1 Triheptanoin

Search NIH Clinical Center for Glycogen Storage Disease

Cochrane evidence based reviews: glycogen storage disease

Genetic Tests for Glycogen Storage Disease

Genetic tests related to Glycogen Storage Disease:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease 29

Anatomical Context for Glycogen Storage Disease

MalaCards organs/tissues related to Glycogen Storage Disease:

41
Liver, Testes, Skeletal Muscle, Heart, Tongue, Lung, Neutrophil
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Glycogen Storage Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate, affected by disease

Publications for Glycogen Storage Disease

Articles related to Glycogen Storage Disease:

(show top 50) (show all 906)
# Title Authors Year
1
Hepatic glucose-6-phosphatase-I+ deficiency leads to metabolic reprogramming in glycogen storage disease type Ia. ( 29545180 )
2018
2
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX. ( 29408683 )
2018
3
Pulmonary Hypertension in Glycogen Storage Disease Type II. ( 29786057 )
2018
4
Development and characterization of an inducible mouse model for glycogen storage disease type Ib. ( 29967951 )
2018
5
Molecular biology and gene therapy for glycogen storage disease type Ib. ( 29663270 )
2018
6
Hemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease. ( 29750741 )
2018
7
Effect of VSL#3 Probiotic in a Patient with Glycogen Storage Disease Type Ia and Irritable Bowel Disease-like Disease. ( 29441457 )
2018
8
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities. ( 29379554 )
2018
9
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a. ( 29167993 )
2018
10
Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China. ( 29614965 )
2018
11
Matched unrelated donor transplantation in glycogen storage disease type 1b patient corrects severe neutropenia and recurrent infections. ( 29515247 )
2018
12
Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia. ( 29802554 )
2018
13
PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature. ( 29360628 )
2018
14
Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia. ( 29740774 )
2018
15
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? ( 29435782 )
2018
16
Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length. ( 29652549 )
2018
17
Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly. ( 29374762 )
2018
18
Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas. ( 29486517 )
2018
19
Aberrant proliferation and differentiation of glycogen storage disease type Ib mesenchymal stem cells. ( 29238966 )
2018
20
Perioperative management of children with glycogen storage disease type II-Pompe disease. ( 29575534 )
2018
21
G6PC mRNA Therapy Positively Regulates Fasting Blood Glucose and Decreases Liver Abnormalities in a Mouse Model of Glycogen Storage Disease 1a. ( 29428299 )
2018
22
Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia. ( 29869165 )
2018
23
Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3. ( 29794575 )
2018
24
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring. ( 29600495 )
2018
25
Glycogen Storage Disease, Type II (Pompe Disease) ( 29262159 )
2017
26
Glycogen Storage Disease ( 29083788 )
2017
27
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. ( 28397058 )
2017
28
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1. ( 28160246 )
2017
29
Liver-directed gene therapy for murine glycogen storage disease type Ib. ( 28973635 )
2017
30
Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch. ( 29223626 )
2017
31
Is Type 2 Diabetes a Glycogen Storage Disease of Pancreatic I^ Cells? ( 28683284 )
2017
32
Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia. ( 28727166 )
2017
33
3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk. ( 28502559 )
2017
34
Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene. ( 28984260 )
2017
35
A new variant in PHKA2 is associated with glycogen storage disease type IXa. ( 28116244 )
2017
36
Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis. ( 29321839 )
2017
37
Glycogen storage disease type Ia mice with less than 2% of normal hepatic glucose-6-phosphatase-I+ activity restored are at risk of developing hepatic tumors. ( 28096054 )
2017
38
Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis. ( 29030854 )
2017
39
Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation. ( 28360385 )
2017
40
Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration. ( 27864142 )
2017
41
Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa). ( 28317891 )
2017
42
Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib. ( 28511025 )
2017
43
Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report. ( 29127952 )
2017
44
A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association orA Iatrogenic Complication of Therapy. ( 29119402 )
2017
45
Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia. ( 28558013 )
2017
46
Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. ( 28568353 )
2017
47
Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function. ( 28389590 )
2017
48
Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular Type Glycogen Storage Disease Type IV. ( 28497716 )
2017
49
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. ( 28627441 )
2017
50
Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy. ( 28334808 )
2017

Variations for Glycogen Storage Disease

ClinVar genetic disease variations for Glycogen Storage Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PYGM NM_005609.3(PYGM): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs116987552 GRCh37 Chromosome 11, 64527223: 64527223
2 PYGM NM_005609.3(PYGM): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs116987552 GRCh38 Chromosome 11, 64759751: 64759751
3 GAA NM_000152.4(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 GRCh37 Chromosome 17, 78078341: 78078341
4 GAA NM_000152.4(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 GRCh38 Chromosome 17, 80104542: 80104542
5 GYS2 NM_021957.3(GYS2): c.736C> T (p.Arg246Ter) single nucleotide variant Likely pathogenic rs121918419 GRCh37 Chromosome 12, 21721886: 21721886
6 GYS2 NM_021957.3(GYS2): c.736C> T (p.Arg246Ter) single nucleotide variant Likely pathogenic rs121918419 GRCh38 Chromosome 12, 21568952: 21568952
7 GAA NM_000152.4(GAA): c.1316T> A (p.Met439Lys) single nucleotide variant Likely pathogenic rs747610090 GRCh37 Chromosome 17, 78082617: 78082617
8 GAA NM_000152.4(GAA): c.1316T> A (p.Met439Lys) single nucleotide variant Likely pathogenic rs747610090 GRCh38 Chromosome 17, 80108818: 80108818

Copy number variations for Glycogen Storage Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 69951 12 56600000 58100000 Copy number PFKM Glycogen storage disease
2 100159 16 29961204 29975150 Deletion ALDOA Glycogen storage disease

Expression for Glycogen Storage Disease

Search GEO for disease gene expression data for Glycogen Storage Disease.

Pathways for Glycogen Storage Disease

Pathways related to Glycogen Storage Disease according to KEGG:

37
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Starch and sucrose metabolism hsa00500
3 Insulin signaling pathway hsa04910

Pathways related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 AGL ALDOA ENO3 G6PC GAA GBE1
2
Show member pathways
13.42 GYS1 GYS2 PHKA1 PHKA2 PHKB PHKG2
3
Show member pathways
12.96 AGL ALDOA ENO3 G6PC GAA GBE1
4
Show member pathways
12.88 G6PC GYS1 GYS2 PHKA1 PHKA2 PHKB
5
Show member pathways
12.87 GYS1 GYS2 PHKA1 PHKA2 PHKB PHKG2
6
Show member pathways
12.86 AGL ALDOA ENO3 G6PC GAA GBE1
7
Show member pathways
12.42 G6PC GYG1 GYS1 GYS2 PFKM PRKAG2
8
Show member pathways
12.29 G6PC GYS1 GYS2 PFKM PRKAG2
9
Show member pathways
12.18 ALDOA ENO3 PFKM PGAM2
10
Show member pathways
12.11 PHKA1 PHKA2 PHKB PHKG2
11
Show member pathways
12.06 GYS1 GYS2 PFKM PRKAG2
12
Show member pathways
11.95 G6PC GYS1 GYS2 PRKAG2 PYGL PYGM
13 11.91 G6PC GYS1 GYS2 PGAM2 PHKA1 PHKA2
14
Show member pathways
11.77 ALDOA PFKM PGAM2
15
Show member pathways
11.72 GYG1 GYS1 GYS2
16
Show member pathways
11.41 AGL G6PC GAA GBE1 GYG1 GYS1
17 11.25 AGL GBE1 GYG1 GYS1 GYS2 PHKA1
18
Show member pathways
11.15 GYG1 GYS1 GYS2
19
Show member pathways
10.11 GYG1 GYS1

GO Terms for Glycogen Storage Disease

Cellular components related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.86 AGL ALDOA ENO3 GBE1 GYG1 GYS1
2 ficolin-1-rich granule lumen GO:1904813 9.56 AGL ALDOA GYG1 PYGL
3 lysosomal lumen GO:0043202 9.54 GAA GYG1 LAMP2
4 secretory granule lumen GO:0034774 9.46 AGL ALDOA GYG1 PYGL
5 inclusion body GO:0016234 9.4 AGL GYS1
6 phosphorylase kinase complex GO:0005964 8.92 PHKA1 PHKA2 PHKB PHKG2
7 extracellular exosome GO:0070062 10.02 ALDOA ENO3 GAA GBE1 GYG1 LAMP2

Biological processes related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.95 PHKA1 PHKA2 PHKB PHKG2 PRKAG2
2 carbohydrate metabolic process GO:0005975 9.92 GAA GBE1 PHKA1 PHKA2 PHKB PHKG2
3 glucose homeostasis GO:0042593 9.81 G6PC PFKM PYGL SLC37A4
4 glycolytic process GO:0006096 9.78 ALDOA ENO3 PFKM PGAM2
5 gluconeogenesis GO:0006094 9.77 ALDOA ENO3 G6PC PGAM2 SLC37A4
6 glycogen metabolic process GO:0005977 9.77 AGL G6PC GAA GBE1 GYS1 PHKA1
7 canonical glycolysis GO:0061621 9.76 ALDOA ENO3 PFKM PGAM2
8 generation of precursor metabolites and energy GO:0006091 9.73 GBE1 GYS2 PHKA1 PHKA2 PHKB PHKG2
9 muscle cell cellular homeostasis GO:0046716 9.71 ALDOA GAA LAMP2 PFKM
10 striated muscle contraction GO:0006941 9.67 ALDOA GAA PGAM2
11 glycogen biosynthetic process GO:0005978 9.63 AGL GBE1 GYG1 GYS1 GYS2 PHKG2
12 glucose-6-phosphate transport GO:0015760 9.54 G6PC SLC37A4
13 glycogen catabolic process GO:0005980 9.36 AGL G6PC GAA GYG1 PFKM PHKA1
14 metabolic process GO:0008152 10.03 AGL GAA GYS1 GYS2 PFKM PGAM2
15 neutrophil degranulation GO:0043312 10 AGL ALDOA GAA GYG1 LAMP2 PYGL

Molecular functions related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.85 ALDOA GAA PFKM PYGL PYGM
2 carbohydrate binding GO:0030246 9.83 AGL GAA GBE1 PYGL
3 calmodulin binding GO:0005516 9.81 PHKA1 PHKA2 PHKB PHKG2
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.56 GAA GBE1
5 glucose binding GO:0005536 9.55 GYS1 PYGL
6 AMP binding GO:0016208 9.54 PRKAG2 PYGL
7 transferase activity, transferring glycosyl groups GO:0016757 9.5 AGL GBE1 GYG1 GYS1 GYS2 PYGL
8 fructose binding GO:0070061 9.49 ALDOA PFKM
9 phosphorylase activity GO:0004645 9.48 PYGL PYGM
10 SHG alpha-glucan phosphorylase activity GO:0102499 9.4 PYGL PYGM
11 linear malto-oligosaccharide phosphorylase activity GO:0102250 9.37 PYGL PYGM
12 glycogen phosphorylase activity GO:0008184 9.32 PYGL PYGM
13 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.26 GYS1 GYS2
14 glycogen (starch) synthase activity GO:0004373 9.16 GYS1 GYS2
15 phosphorylase kinase activity GO:0004689 8.92 PHKA1 PHKA2 PHKB PHKG2
16 transferase activity GO:0016740 10.09 AGL GBE1 GYG1 GYS1 GYS2 PFKM

Sources for Glycogen Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....