MCID: GLY013
MIFTS: 59

Glycogen Storage Disease

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

Aliases & Classifications for Glycogen Storage Disease

Summaries for Glycogen Storage Disease

NINDS : 51 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 glycogenoses, is related to glycogen storage disease iiia and glycogen storage disease iv. An important gene associated with Glycogen Storage Disease is GAA (Glucosidase Alpha, Acid), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. 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 behavior/neurological

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 : 72 Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the... more...

Related Diseases for Glycogen Storage Disease

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Iiia Glycogen Storage Disease Iv
Glycogen Storage Disease Xv Glycogen Storage Disease X
Glycogen Storage Disease Xi Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Vii
Glycogen Storage Disease Vi Glycogen Storage Disease Ixc
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ia Glycogen Storage Disease Ii
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 151)
id Related Disease Score Top Affiliating Genes
1 glycogen storage disease iiia 33.5 AGL G6PC GAA GBE1 PYGL
2 glycogen storage disease iv 12.7
3 glycogen storage disease ia 12.7
4 glycogen storage disease ii 12.7
5 glycogen storage disease vi 12.7
6 glycogen storage disease vii 12.6
7 glycogen storage disease x 12.5
8 glycogen storage disease 0, liver 12.5
9 glycogen storage disease ixc 12.5
10 glycogen storage disease xii 12.5
11 glycogen storage disease xiii 12.5
12 glycogen storage disease xv 12.5
13 glycogen storage disease ib 12.5
14 glycogen storage disease xi 12.4
15 glycogen storage disease 0, muscle 12.4
16 glycogen storage disease ixa 12.4
17 glycogen storage disease, type ixa1 12.4
18 mcardle disease 12.4
19 glycogen storage disease of heart, lethal congenital 12.4
20 glycogen storage disease type 0 12.4
21 glycogen storage disease ic 12.3
22 glycogen storage disease due to liver phosphorylase kinase deficiency 12.2
23 glycogen storage disease ix 12.2
24 glycogen storage disease due to glucose-6-phosphatase deficiency 12.2
25 glycogen storage disease due to glycogen branching enzyme deficiency 12.2
26 glycogen storage disease due to acid maltase deficiency, infantile onset 12.2
27 glycogen storage disease due to acid maltase deficiency, late-onset 12.2
28 muscle glycogenosis 12.1
29 danon disease 12.1
30 glycogen storage disease viii 12.1
31 fanconi-bickel syndrome 12.1
32 phosphorylase kinase deficiency of liver and muscle, autosomal recessive 12.1
33 glycogen storage disease due to lactate dehydrogenase deficiency 12.0
34 phosphorylase kinase deficiency 11.9
35 phosphoglycerate mutase deficiency 11.4
36 lactate dehydrogenase b deficiency 11.3
37 phosphoglycerate kinase 1 deficiency 11.3
38 polyglucosan body myopathy 2 11.2
39 hepatoblastoma 11.2
40 congenital disorder of glycosylation, type it 11.2
41 phka2-related phosphorylase kinase deficiency 11.2
42 phkb-related phosphorylase kinase deficiency 11.1
43 phkg2-related phosphorylase kinase deficiency 11.1
44 phka1-related phosphorylase kinase deficiency 11.1
45 lactate dehydrogenase a deficiency 10.9
46 hepatic adenoma, somatic 10.9
47 macroglossia 10.9
48 lactate dehydrogenase deficiency 10.9
49 hyperchylomicronemia, late-onset 10.9
50 hepatitis 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.35 PFKM PHKA2 PHKG2 PRKAG2
2 Decreased viability GR00221-A-2 10.35 PFKM PHKA2 PHKB PHKG2 PRKAG2
3 Decreased viability GR00221-A-3 10.35 PFKM PHKA2 PHKB
4 Decreased viability GR00221-A-4 10.35 PHKA2 PHKB
5 Decreased viability GR00342-S-1 10.35 PHKA2
6 Decreased viability GR00342-S-2 10.35 PHKA2
7 Decreased viability GR00342-S-3 10.35 PHKA2
8 Increased transferrin (TF) endocytosis GR00363-A 9.65 G6PC GAA GYG1 GYS1 GYS2 PFKM
9 Apoptosis resistance GR00093-A-0 9.43 G6PC PFKM PHKA2
10 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 GAA PFKM PHKA2 PHKB PYGL

MGI Mouse Phenotypes related to Glycogen Storage Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 PFKM PYGM SLC37A4 AGL G6PC GAA
2 homeostasis/metabolism MP:0005376 9.81 AGL G6PC GAA GBE1 GYS1 GYS2
3 liver/biliary system MP:0005370 9.43 AGL G6PC GBE1 GYS1 GYS2 SLC37A4
4 muscle MP:0005369 9.17 AGL GAA GBE1 GYS1 GYS2 PFKM

Drugs & Therapeutics for Glycogen Storage Disease

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

(show top 50) (show all 101)
id 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
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
4
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
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 1,Phase 2,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 Alkylating Agents Phase 4
28 Antibodies Phase 4,Phase 1
29 gamma-Globulins Phase 4,Phase 1
30 Immunoglobulins Phase 4,Phase 1
31 Immunoglobulins, Intravenous Phase 4,Phase 1
32 Rho(D) Immune Globulin Phase 4,Phase 1
33 Folate Nutraceutical Phase 4
34 Vitamin B9 Nutraceutical Phase 4
35 Pharmaceutical Solutions Phase 3,Phase 2
36
Clenbuterol Approved, Vet_approved Phase 1, Phase 2 37148-27-9 2783
37
Miglustat Approved Phase 1, Phase 2 72599-27-0 51634
38
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
39 Anticonvulsants Phase 2,Early Phase 1
40 Central Nervous System Depressants Phase 2,Phase 1
41 Anti-HIV Agents Phase 1, Phase 2
42 Anti-Infective Agents Phase 1, Phase 2
43 Anti-Retroviral Agents Phase 1, Phase 2
44 Antiviral Agents Phase 1, Phase 2
45 Cardiac Glycosides Phase 1, Phase 2
46 Glycoside Hydrolase Inhibitors Phase 1, Phase 2
47 Hypoglycemic Agents Phase 1, Phase 2
48 Antimanic Agents Phase 2
49 GABA Agents Phase 2
50 Psychotropic Drugs Phase 2

Interventional clinical trials:

(show top 50) (show all 117)

id 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 Pompe Lactation Sub-Registry Recruiting NCT00566878 Phase 4
8 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
9 Immune Tolerance Induction Study Recruiting NCT00701701 Phase 4
10 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
11 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
12 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
13 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
14 A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease Completed NCT00059280 Phase 2, Phase 3
15 Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602 Completed NCT00125879 Phase 2, Phase 3
16 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
17 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed NCT00158600 Phase 3 Placebo
18 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)
19 NeoGAA Extension Study Enrolling by invitation NCT02032524 Phase 2, Phase 3 GZ402666
20 BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) Terminated NCT01924845 Phase 3 BMN 701
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 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
24 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
25 A Study of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
26 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2 Triheptanoin
27 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
28 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)
29 Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy Completed NCT01942590 Phase 1, Phase 2 Clenbuterol;Placebo
30 Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement Therapy Completed NCT01885936 Phase 1, Phase 2 Albuterol;Placebo
31 Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease Completed NCT01230801 Phase 1, Phase 2
32 Drug-drug Interaction Study Completed NCT01380743 Phase 2 duvoglustat hydrochloride
33 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) Recruiting NCT02432768 Phase 2 Triheptanoin
34 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
35 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
36 Sodium Valproate for GSDV Active, not recruiting NCT03112889 Phase 2 Sodium Valproate
37 First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 Active, not recruiting NCT02675465 Phase 1, Phase 2 ATB200;AT2221
38 Extension Study for Patients Who Have Participated in a BMN 701 Study Active, not recruiting NCT01435772 Phase 2
39 Triheptanoin in Mc Ardle Not yet recruiting NCT02919631 Phase 2 Triheptanoin;Placebo oil
40 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2 Triheptanoin
41 Study to Evaluate the Safety of AT2220 in Pompe Disease Terminated NCT00688597 Phase 2 AT2220;AT2220;AT2220
42 A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Terminated NCT02191917 Phase 2
43 High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease Withdrawn NCT01656590 Phase 2
44 Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. Completed NCT01898364 Phase 1 GZ402666
45 Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Completed NCT01859624 Phase 1 Albuterol
46 Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Recruiting NCT02240407 Phase 1 Rapamycin;Rituxan;Diphenhydramine;Acetaminophen;Lidocaine
47 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1 Zavesca® Prescription
48 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1 Triheptanoin
49 Prospective Follow-up of Patients With Glycogen Storage Disease Type III Unknown status NCT01563705
50 Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry Unknown status NCT01409486

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:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease 29 24

Anatomical Context for Glycogen Storage Disease

MalaCards organs/tissues related to Glycogen Storage Disease:

39
Liver, Testes, Heart, Skeletal Muscle, 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:
id 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 852)
id Title Authors Year
1
Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation. ( 28360385 )
2017
2
Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib. ( 28511025 )
2017
3
Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia. ( 28727166 )
2017
4
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. ( 28224773 )
2017
5
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
6
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. ( 28397058 )
2017
7
Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient. ( 28275655 )
2017
8
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
9
Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa). ( 28317891 )
2017
10
Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy. ( 28334808 )
2017
11
Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia. ( 28085675 )
2017
12
Is Type 2 Diabetes a Glycogen Storage Disease of Pancreatic I^ Cells? ( 28683284 )
2017
13
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa. ( 28888851 )
2017
14
A new variant in PHKA2 is associated with glycogen storage disease type IXa. ( 28116244 )
2017
15
Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib. ( 28126686 )
2017
16
Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration. ( 27864142 )
2017
17
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1. ( 28160246 )
2017
18
Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. ( 28568353 )
2017
19
3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk. ( 28502559 )
2017
20
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. ( 28627441 )
2017
21
Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular Type Glycogen Storage Disease Type IV. ( 28497716 )
2017
22
Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia. ( 28558013 )
2017
23
Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV). ( 27442143 )
2016
24
Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b. ( 27066451 )
2016
25
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. ( 27103379 )
2016
26
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. ( 26913919 )
2016
27
Progressive development of renal cysts in glycogen storage disease type I. ( 27436577 )
2016
28
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III. ( 27460348 )
2016
29
Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V. ( 27273923 )
2016
30
Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review. ( 27139513 )
2016
31
Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia. ( 27511118 )
2016
32
Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. ( 27900094 )
2016
33
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M. ( 27612597 )
2016
34
Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease). ( 27384519 )
2016
35
A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. ( 27592162 )
2016
36
Evaluation of central nervous system in patients with glycogen storage disease type 1a. ( 27922231 )
2016
37
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle. ( 27546458 )
2016
38
Embryonal Hepatoblastoma with Co-existent Glycogen Storage Disease in a Seven-month-old Child. ( 27042474 )
2016
39
Glycogen Storage Disease Because of a PRKAG2 Mutation Causing Severe Biventricular Hypertrophy and High-Grade Atrio-Ventricular Block. ( 27496753 )
2016
40
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. ( 26984562 )
2016
41
FDG PET/CT in Type I Glycogen Storage Disease. ( 26704733 )
2016
42
A novel GBE1 Gene variant in a child with glycogen storage disease type IV. ( 27107456 )
2016
43
In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA. ( 26865405 )
2016
44
Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder. ( 27974893 )
2016
45
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. ( 27106217 )
2016
46
Acute ischemic stroke revealing late-onset glycogen storage disease. ( 28038773 )
2016
47
A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV. ( 27344645 )
2016
48
Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy. ( 27832700 )
2016
49
A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. ( 26885414 )
2016
50
A pediatric patient with glycogen storage disease type IA and Castleman disease. ( 28035790 )
2016

Variations for Glycogen Storage Disease

Copy number variations for Glycogen Storage Disease from CNVD:

7
id 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 GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 AGL G6PC GAA GBE1 GYG1 GYS1
2
Show member pathways
13.33 GYS1 GYS2 PHKA2 PHKB PHKG2 PYGL
3
Show member pathways
12.85 AGL G6PC GAA GBE1 GYG1 GYS1
4
Show member pathways
12.83 G6PC GYS1 GYS2 PHKA2 PHKB PHKG2
5
Show member pathways
12.77 GYS1 GYS2 PHKA2 PHKB PHKG2
6
Show member pathways
12.75 AGL G6PC GAA GBE1 GYG1 GYS1
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
12.03 GYS1 GYS2 PFKM PRKAG2
10
Show member pathways
11.99 PHKA2 PHKB PHKG2
11
Show member pathways
11.95 G6PC GYS1 GYS2 PRKAG2 PYGL PYGM
12
Show member pathways
11.94 AGL G6PC GAA GBE1 GYG1 GYS1
13
Show member pathways
11.67 GYG1 GYS1 GYS2
14 11.29 G6PC GYS1 GYS2 PHKA2 PHKB PHKG2
15 11.21 AGL GBE1 GYG1 GYS1 GYS2 PHKA2

GO Terms for Glycogen Storage Disease

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.73 AGL GBE1 GYG1 GYS1 GYS2 PFKM
2 ficolin-1-rich granule lumen GO:1904813 9.43 AGL GYG1 PYGL
3 secretory granule lumen GO:0034774 9.33 AGL GYG1 PYGL
4 inclusion body GO:0016234 9.32 AGL GYS1
5 phosphorylase kinase complex GO:0005964 8.8 PHKA2 PHKB PHKG2

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.91 AGL GAA GYS1 GYS2 PFKM PYGL
2 carbohydrate metabolic process GO:0005975 9.8 GAA GBE1 PHKA2 PHKB PHKG2 PYGL
3 neutrophil degranulation GO:0043312 9.78 AGL GAA GYG1 PYGL
4 generation of precursor metabolites and energy GO:0006091 9.72 GBE1 GYS2 PHKA2 PHKB PHKG2
5 glycogen metabolic process GO:0005977 9.7 AGL G6PC GAA GBE1 GYS1 PHKA2
6 glycogen biosynthetic process GO:0005978 9.63 AGL GBE1 GYG1 GYS1 GYS2 PHKG2
7 glucose homeostasis GO:0042593 9.58 G6PC PFKM PYGL
8 muscle cell cellular homeostasis GO:0046716 9.46 GAA PFKM
9 glucose-6-phosphate transport GO:0015760 9.43 G6PC SLC37A4
10 glycogen catabolic process GO:0005980 9.32 AGL G6PC GAA GYG1 PFKM PHKA2
11 triglyceride metabolic process GO:0006641 9.19 G6PC

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.81 AGL GBE1 GYG1 GYS1 GYS2 PFKM
2 catalytic activity GO:0003824 9.8 GAA PFKM PYGL PYGM
3 carbohydrate binding GO:0030246 9.73 AGL GAA GBE1 PYGL
4 calmodulin binding GO:0005516 9.7 PHKA2 PHKB PHKG2
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.51 GAA GBE1
6 AMP binding GO:0016208 9.48 PRKAG2 PYGL
7 glucose binding GO:0005536 9.46 GYS1 PYGL
8 phosphorylase activity GO:0004645 9.4 PYGL PYGM
9 glycogen phosphorylase activity GO:0008184 9.37 PYGL PYGM
10 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.32 GYS1 GYS2
11 glycogen (starch) synthase activity GO:0004373 9.26 GYS1 GYS2
12 transferase activity, transferring glycosyl groups GO:0016757 9.17 AGL GBE1 GYG1 GYS1 GYS2 PYGL
13 phosphorylase kinase activity GO:0004689 9.13 PHKA2 PHKB PHKG2

Sources for Glycogen Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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