GSD2
MCID: GLY008
MIFTS: 66

Glycogen Storage Disease Ii (GSD2)

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

Aliases & Classifications for Glycogen Storage Disease Ii

MalaCards integrated aliases for Glycogen Storage Disease Ii:

Name: Glycogen Storage Disease Ii 58 12 76 13 15
Glycogen Storage Disease Type Ii 12 77 25 26 60 38 45 74
Pompe Disease 58 25 54 26 55 60 76 56
Acid Maltase Deficiency 58 12 77 25 26 55 76
Gsd Ii 58 25 54 26 76
Alpha-1,4-Glucosidase Deficiency 58 54 26 76
Glycogenosis Type Ii 77 25 26 60
Gaa Deficiency 58 25 26 76
Amd 58 26 76 3
Acid Alpha-Glucosidase Deficiency 58 25 76
Glycogen Storage Disease, Type Ii 12 30 6
Pompe's Disease 12 77 26
Gsd2 58 26 76
Cardiomegalia Glycogenica Diffusa 58 54
Glycogen Storage Disease Type 2 54 60
Acid Maltase Deficiency Disease 54 26
Deficiency of Alpha-Glucosidase 54 26
Glycogen Storage Disease Due to Acid Maltase Deficiency 60
Generalized Glycogen Storage Disease of Infants 74
Glycogenosis Due to Acid Maltase Deficiency 60
Lysosomal Alpha-1,4-Glucosidase Deficiency 12
Gsd Ii; Acid Alpha-Glucosidase Deficiency 58
Deficiency of Lysosomal Alpha-Glucosidase 54
Cardiac Form of Generalized Glycogenosis 74
Glycogenosis, Generalized, Cardiac Form 58
Alpha-1,4-Glucosidase Acid Deficiency 60
Glycogenosis Generalized Cardiac Form 76
Gsd Due to Acid Maltase Deficiency 60
Storage Disease, Glycogen, Type Ii 41
Acid Maltase Deficiency; Amd 58
Deficiency of Glucoamylase 12
Glycogen Storage Disease 2 76
Cardiomegalia Glycogenica 76
Generalized Glycogenosis 12
Glucosidase, Acid Alpha- 13
Deficiency of Maltase 12
Glycogenosis, Type 2 12
Glycogenosis Type 2 60
Aglucosidase Alfa 54
Glycogenosis Ii 76
Gsd Type Ii 60
Gsd Type 2 60
Gsd-Ii 76

Characteristics:

Orphanet epidemiological data:

60
glycogen storage disease due to acid maltase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood
patients with later onset have better prognosis
incidence of 1 in 40,000 infants worldwide


HPO:

33
glycogen storage disease ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ii

NINDS : 55 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 Ii, also known as glycogen storage disease type ii, is related to danon disease and wolff-parkinson-white syndrome, and has symptoms including dyspnea and weakness. An important gene associated with Glycogen Storage Disease Ii is GAA (Glucosidase Alpha, Acid), and among its related pathways/superpathways are Galactose metabolism and Lysosome. The drugs leucovorin and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and liver, and related phenotypes are seizures and gait disturbance

Disease Ontology : 12 A glycogen storage disease that has material basis in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.

Genetics Home Reference : 26 Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

NIH Rare Diseases : 54 Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an inheritedmetabolic disorder. While glycogen storage disease type 2 is a single disease, it may be classified in 2 forms according to the rates of disease progression, its severity and the age at which symptoms start. The classic infantile-onset starts before 12 month of age and involves the heart muscle (myocardiopathy). The later-onset form may start before 12 months of age (non-classic infantile-onset), or after 12 months of age, but does not affect the heart. Muscle weakness is a main symptom in all forms. The infantile-onset is the most severe form and, if untreated, it may lead to death from heart failure in the first year of life. The late-onset form is usually milder, but if untreated may lead to severe breathing problems.  Glycogen storage disease type 2 is caused by variants (mutations) in the GAA gene which have instructions to produce the enzyme acid alpha-glucosidase (acid maltase), needed to break down glycogen, a substance that is a source of energy for the body. The enzyme deficiency results in the accumulation of glycogen inside lysosomes, structures within cells that break down waste products within the cell. Accumulation of glycogen in certain tissues, especially muscles, impairs their function. In 2006, the U.S. Food and Drug Administration (FDA) approved the enzyme replacement therapy Myozyme as a treatment for all patients with glycogen storage disease type 2. Another similar drug called Lumizyme has recently been approved for the treatment this disease. Additional treatment of Pompe disease is symptomatic and supportive and may include respiratory and feeding support and physical therapy.  

OMIM : 58 Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984). (232300)

CDC : 3 Advanced molecular detection (AMD) integrates the latest next-generation genomic sequencing technologies with bioinformatics and epidemiology expertise across CDC and the nation to help us find, track, and stop disease-causing pathogens faster than ever before.

UniProtKB/Swiss-Prot : 76 Glycogen storage disease 2: A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy.

Wikipedia : 77 Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic... more...

GeneReviews: NBK1261

Related Diseases for Glycogen Storage Disease Ii

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 Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 danon disease 31.9 GAA LAMP2 PRKAG2
2 wolff-parkinson-white syndrome 30.0 LAMP2 PRKAG2
3 rigid spine muscular dystrophy 1 30.0 DMD GAA
4 fabry disease 29.8 LAMP2 PRKAG2
5 facioscapulohumeral muscular dystrophy 1 29.8 DMD GAA
6 atrial standstill 1 29.7 DMD GAA LAMP2 PRKAG2
7 glycogen storage disease 29.6 GAA LAMP2 PRKAG2 PYGM
8 neuromuscular disease 29.4 DMD GAA
9 neurological manifestations of pompe disease 12.6
10 macular degeneration, age-related, 1 12.4
11 glycogen storage disease ixa1 11.5
12 reducing body myopathy 11.3
13 glycogen storage disease due to acid maltase deficiency, infantile onset 11.2
14 glycogen storage disease due to acid maltase deficiency, late-onset 11.2
15 stargardt disease 1 11.1
16 adrenomyodystrophy 11.1
17 langerhans cell histiocytosis 11.1
18 kuhnt-junius degeneration 10.4
19 myopathy 10.3
20 muscle disorders 10.3
21 hypertrophic cardiomyopathy 10.2
22 phosphatase, acid, of tissues 10.2 GAA LAMP2
23 blood group--swann system 10.2
24 macular retinal edema 10.2
25 scoliosis 10.1
26 muscular dystrophy 10.1
27 dysphagia 10.1
28 alzheimer disease 10.1
29 salla disease 10.1
30 cataract 10.1
31 retinal degeneration 10.1
32 diabetic macular edema 10.1
33 muscle hypertrophy 10.1
34 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
35 ptosis 10.1
36 isolated hyperckemia 10.1 DMD GAA
37 respiratory failure 10.1
38 creatine phosphokinase, elevated serum 10.1 DMD GAA
39 apnea, obstructive sleep 10.0
40 sleep apnea 10.0
41 cleft lip 10.0
42 xp22.3 microdeletion syndrome 10.0
43 lysosomal storage disease 10.0
44 aging 10.0
45 yemenite deaf-blind hypopigmentation syndrome 10.0
46 kidney disease 10.0
47 ichthyosis prematurity syndrome 10.0
48 mucopolysaccharidosis-plus syndrome 10.0
49 dilated cardiomyopathy 10.0
50 neuropathy 10.0

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



Diseases related to Glycogen Storage Disease Ii

Symptoms & Phenotypes for Glycogen Storage Disease Ii

Human phenotypes related to Glycogen Storage Disease Ii:

60 33 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
3 dysphagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002015
4 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
5 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
6 type ii diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0005978
7 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
8 cardiomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001640
9 hypertrophic cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001639
10 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097
11 generalized muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003324
12 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
13 abdominal wall muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009023
14 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
15 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
16 atrioventricular block 60 33 frequent (33%) Frequent (79-30%) HP:0001678
17 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
18 respiratory insufficiency due to muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002747
19 arrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0011675
20 macroglossia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000158
21 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
22 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
23 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
24 respiratory insufficiency 33 HP:0002093
25 hearing impairment 33 HP:0000365
26 splenomegaly 33 HP:0001744
27 fever 33 HP:0001945
28 abnormality of the cardiovascular system 60 Very frequent (99-80%)
29 abnormality of metabolism/homeostasis 60 Very frequent (99-80%)
30 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
31 wolff-parkinson-white syndrome 33 HP:0001716
32 areflexia 33 HP:0001284
33 proximal muscle weakness 33 HP:0003701
34 generalized hypotonia 33 HP:0001290
35 diaphragmatic paralysis 33 HP:0006597
36 dilatation of the cerebral artery 33 HP:0004944
37 abnormal cns myelination 33 HP:0011400
38 shortened pr interval 33 HP:0005165
39 firm muscles 33 HP:0003725

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
macroglossia

Abdomen Liver:
hepatomegaly

Respiratory:
dyspnea
respiratory failure due to muscle weakness
respiratory infections

Chest Ribs Sternum Clavicles And Scapulae:
diaphragmatic paralysis

Head And Neck Ears:
hearing loss

Laboratory Abnormalities:
elevated serum creatine kinase
elevated ast and ldh, especially infantile-onset
presence of vacuoles on muscle biopsy
deficiency of alpha-1,4-glucosidase (acid maltase)

Metabolic Features:
fever of central origin

Abdomen Spleen:
splenomegaly

Cardiovascular Heart:
cardiomegaly
wolf-parkinson-white syndrome
shortened p-r interval on ekg
huge qrs complexes

Muscle Soft Tissue:
proximal muscle weakness
weakness
firm muscles
myopathic pattern on emg

Neurologic Central Nervous System:
hypotonia
abnormal brain myelination

Neurologic Peripheral Nervous System:
absent deep tendon reflexes

Cardiovascular Vascular:
cerebral artery aneurysm

Clinical features from OMIM:

232300

UMLS symptoms related to Glycogen Storage Disease Ii:


dyspnea, weakness

MGI Mouse Phenotypes related to Glycogen Storage Disease Ii:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 DMD GAA IGF2R LAMP2 PRKAG2 PYGM
2 homeostasis/metabolism MP:0005376 9.7 DMD GAA IGF2R LAMP2 MGAM PRKAG2
3 liver/biliary system MP:0005370 9.26 DMD IGF2R LAMP2 PRKAG2
4 muscle MP:0005369 9.02 DMD GAA LAMP2 PRKAG2 PYGM

Drugs & Therapeutics for Glycogen Storage Disease Ii

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

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 143 6006
2
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
3
rituximab Approved Phase 4,Phase 1 174722-31-7 10201696
4
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
5
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
6
Desipramine Approved, Investigational Phase 4 50-47-5 2995
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
8 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
9 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
10 Tocolytic Agents Phase 4,Phase 1,Phase 2
11 Adrenergic Agents Phase 4,Phase 1,Phase 2
12 Adrenergic Agonists Phase 4,Phase 1,Phase 2
13 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
14 Respiratory System Agents Phase 4,Phase 1,Phase 2
15 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Early Phase 1
16 Bronchodilator Agents Phase 4,Phase 1,Phase 2
17 Autonomic Agents Phase 4,Phase 1,Phase 2
18 Albuterol Phase 4,Phase 1,Phase 2
19 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
20 Dermatologic Agents Phase 4,Phase 1
21 Antimetabolites, Antineoplastic Phase 4
22 Folic Acid Antagonists Phase 4
23 Vitamin B Complex Phase 4
24 Immunologic Factors Phase 4,Phase 1,Not Applicable
25 Immunosuppressive Agents Phase 4,Phase 1
26 Vitamin B9 Phase 4
27 Antirheumatic Agents Phase 4,Phase 1
28 Nucleic Acid Synthesis Inhibitors Phase 4
29 Antineoplastic Agents, Immunological Phase 4,Phase 1
30 Folate Phase 4
31 Antimetabolites Phase 4
32 Immunoglobulins, Intravenous Phase 4,Phase 1
33 Antibodies Phase 4,Phase 1,Not Applicable
34 Rho(D) Immune Globulin Phase 4,Phase 1
35 gamma-Globulins Phase 4,Phase 1
36 Immunoglobulins Phase 4,Phase 1,Not Applicable
37 Alkylating Agents Phase 4
38 Antineoplastic Agents, Alkylating Phase 4
39 Antidepressive Agents, Tricyclic Phase 4
40 Neurotransmitter Uptake Inhibitors Phase 4
41 Psychotropic Drugs Phase 4
42 Antidepressive Agents Phase 4
43
Miglustat Approved Phase 3,Phase 1,Phase 2 72599-27-0 51634
44
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
45 Cardiac Glycosides Phase 3,Phase 1,Phase 2
46 Anti-Infective Agents Phase 3,Phase 2,Phase 1
47 Antiviral Agents Phase 3,Phase 2,Phase 1
48 Anti-HIV Agents Phase 3,Phase 1,Phase 2
49 Anti-Retroviral Agents Phase 3,Phase 1,Phase 2
50 Hypoglycemic Agents Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 106)
# Name Status NCT ID Phase Drugs
1 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
2 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4 Salbutamol
3 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
4 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
5 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
6 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
7 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
8 Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment Recruiting NCT03687333 Phase 4 ALGLUCOSIDASE ALFA (MYOZYME)
9 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
10 Immune Tolerance Induction Study Active, not recruiting NCT00701701 Phase 4
11 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
12 Desipramine in Infantile Neuroaxonal Dystrophy (INAD). Enrolling by invitation NCT03726996 Phase 4 Desipramine
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 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
15 A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease Completed NCT00059280 Phase 2, Phase 3
16 Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602 Completed NCT00125879 Phase 2, Phase 3
17 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
18 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed NCT00158600 Phase 3 Placebo
19 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)
20 PROPEL Study - A Study Comparing ATB200/AT2221 With Alglucosidase/Placebo in Adult Subjects With LOPD Recruiting NCT03729362 Phase 3 AT2221
21 NeoGAA Extension Study Enrolling by invitation NCT02032524 Phase 2, Phase 3 GZ402666
22 A Study to Evaluate the PK, Safety, Efficacy, and PD With ATB200/AT2221 in LOPD Subjects Aged 12 to <18 Not yet recruiting NCT03911505 Phase 3 AT2221
23 BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) Terminated NCT01924845 Phase 3 BMN 701
24 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
25 Safety and Efficacy of Albuterol in Individuals With Late-onset Pompe Disease Completed NCT01885936 Phase 1, Phase 2 Albuterol;Placebo
26 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
27 rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease) Completed NCT00053573 Phase 1, Phase 2
28 Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease Completed NCT01230801 Phase 1, Phase 2
29 A Study of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
30 A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II Completed NCT00051935 Phase 2 Alglucosidase alfa
31 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
32 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
33 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)
34 Drug-drug Interaction Study Completed NCT01380743 Phase 2 duvoglustat;rhGAA
35 A Study to Assess Safety and Efficacy of Avalglucosidase Alfa Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa Recruiting NCT03019406 Phase 2 avalglucosidase alfa GZ402666;alglucosidase alfa GZ419829
36 AAV2/8-LSPhGAA in Late-Onset Pompe Disease Recruiting NCT03533673 Phase 1, Phase 2
37 VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease Active, not recruiting NCT02898753 Phase 1, Phase 2 VAL-1221;RhGAA
38 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
39 Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease Terminated NCT00688597 Phase 2 Duvoglustat
40 Extension Study for Patients Who Have Participated in a BMN 701 Study Terminated NCT01435772 Phase 2
41 A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Terminated NCT02191917 Phase 2
42 High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease Withdrawn NCT01656590 Phase 2
43 Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Completed NCT01859624 Phase 1 Albuterol
44 Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. Completed NCT01898364 Phase 1 GZ402666
45 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
46 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Terminated NCT02185651 Phase 1 Zavesca® Prescription
47 Prevalence of Pompe's Disease in Respiratory Clinics Unknown status NCT02527239
48 A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI Unknown status NCT01914536
49 Search for Serum/Plasma Biomarkers in Pompe's Disease Unknown status NCT03045042 Enzyme Replacement Agent
50 A Long Term Follow up Study in Late-onset Pompe Disease Unknown status NCT00713245

Search NIH Clinical Center for Glycogen Storage Disease Ii

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: glycogen storage disease type ii

Genetic Tests for Glycogen Storage Disease Ii

Genetic tests related to Glycogen Storage Disease Ii:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Ii 30 GAA

Anatomical Context for Glycogen Storage Disease Ii

MalaCards organs/tissues related to Glycogen Storage Disease Ii:

42
Heart, Skeletal Muscle, Liver, Testes, Tongue, Lung, Kidney

Publications for Glycogen Storage Disease Ii

Articles related to Glycogen Storage Disease Ii:

(show top 50) (show all 143)
# Title Authors Year
1
Perioperative management of children with glycogen storage disease type II-Pompe disease. ( 29575534 )
2018
2
Pulmonary Hypertension in Glycogen Storage Disease Type II. ( 29786057 )
2018
3
Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses. ( 30175981 )
2018
4
Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease). ( 27384519 )
2016
5
Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II. ( 25559662 )
2015
6
ANESTHESIA MANAGEMENT IN AN INFANT WITH GLYCOGEN STORAGE DISEASE TYPE II (POMPE DISEASE). ( 26860026 )
2015
7
First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation. ( 27858622 )
2015
8
[Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II]. ( 26575883 )
2015
9
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature. ( 24158270 )
2014
10
A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease). ( 24976573 )
2014
11
Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience. ( 25093132 )
2014
12
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ( 25173338 )
2014
13
Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients. ( 23884227 )
2013
14
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. ( 23360637 )
2013
15
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. ( 21984055 )
2012
16
Late onset glycogen storage disease type II: pitfalls in the diagnosis. ( 22179097 )
2012
17
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). ( 22595755 )
2012
18
Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients. ( 22940840 )
2012
19
Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy. ( 23182645 )
2012
20
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. ( 21179066 )
2011
21
Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence. ( 22185990 )
2011
22
Late onset glycogen storage disease type II with reducing body-like inclusions. ( 20040332 )
2010
23
Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. ( 19138339 )
2009
24
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. ( 19362502 )
2009
25
Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. ( 19609281 )
2009
26
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases. ( 19771425 )
2009
27
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. ( 21179524 )
2009
28
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. ( 18458862 )
2008
29
Molecular diagnosis of German patients with late-onset glycogen storage disease type II. ( 18607768 )
2008
30
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. ( 18704279 )
2008
31
Therapeutic approaches in glycogen storage disease type II/Pompe Disease. ( 19019308 )
2008
32
Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. ( 17056254 )
2007
33
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. ( 17095274 )
2007
34
Evidence of cardiomyocyte necrosis in glycogen storage disease type II. ( 17270099 )
2007
35
Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic. ( 17523960 )
2007
36
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. ( 17616415 )
2007
37
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II. ( 17723315 )
2007
38
Glycogen storage disease type II: clinical overview. ( 17915568 )
2007
39
Molecular genetics of late onset glycogen storage disease II in Italy. ( 17915575 )
2007
40
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. ( 16359900 )
2006
41
Two clinical forms of glycogen-storage disease type II in two generations of the same family. ( 16433701 )
2006
42
The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II. ( 16601900 )
2006
43
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. ( 16898258 )
2006
44
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. ( 16917947 )
2006
45
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. ( 16987711 )
2006
46
Two new missense mutations of GAA in late onset glycogen storage disease type II. ( 17092519 )
2006
47
Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II. ( 15703490 )
2005
48
Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors. ( 15920463 )
2005
49
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. ( 15922959 )
2005
50
Retrospective diagnosis of glycogen storage disease type II by use of a newborn-screening card. ( 15963968 )
2005

Variations for Glycogen Storage Disease Ii

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ii:

76 (show top 50) (show all 130)
# Symbol AA change Variation ID SNP ID
1 GAA p.Leu299Arg VAR_004288 rs121907940
2 GAA p.Met318Thr VAR_004289 rs121907936
3 GAA p.Trp402Arg VAR_004290
4 GAA p.Gly478Arg VAR_004291 rs778068209
5 GAA p.Trp481Arg VAR_004292 rs772883420
6 GAA p.Met519Thr VAR_004293 rs786204720
7 GAA p.Met519Val VAR_004294
8 GAA p.Glu521Lys VAR_004295 rs121907937
9 GAA p.Ser529Val VAR_004296 rs121907941
10 GAA p.Pro545Leu VAR_004297 rs121907942
11 GAA p.Ser566Pro VAR_004298
12 GAA p.Gly643Arg VAR_004301 rs28937909
13 GAA p.Asp645Glu VAR_004302 rs28940868
14 GAA p.Asp645His VAR_004303 rs368438393
15 GAA p.Asp645Asn VAR_004304 rs368438393
16 GAA p.Cys647Trp VAR_004305 rs776948121
17 GAA p.Gly648Ser VAR_004306 rs536906561
18 GAA p.Arg672Gln VAR_004307 rs778418246
19 GAA p.Arg672Trp VAR_004308 rs757111744
20 GAA p.Arg725Trp VAR_004310 rs121907938
21 GAA p.Pro768Arg VAR_004312
22 GAA p.Val949Asp VAR_004318 rs124541210
23 GAA p.Arg600His VAR_008689 rs377544304
24 GAA p.Gly615Arg VAR_008690 rs549029029
25 GAA p.Cys103Gly VAR_018078 rs398123174
26 GAA p.Gly219Arg VAR_018079 rs370950728
27 GAA p.Pro285Arg VAR_018080 rs764622267
28 GAA p.Tyr292Cys VAR_018081 rs105751660
29 GAA p.Gly293Arg VAR_018082 rs121907945
30 GAA p.His308Pro VAR_018083
31 GAA p.Gly309Arg VAR_018084 rs543300039
32 GAA p.Leu312Arg VAR_018085
33 GAA p.Leu355Pro VAR_018086 rs766074609
34 GAA p.Cys374Arg VAR_018087
35 GAA p.Leu405Pro VAR_018088
36 GAA p.Tyr455Phe VAR_018089
37 GAA p.Gly549Arg VAR_018091
38 GAA p.Leu552Pro VAR_018092 rs779556619
39 GAA p.Tyr575Ser VAR_018093
40 GAA p.Glu579Lys VAR_018094 rs991082382
41 GAA p.Arg600Cys VAR_018095 rs764670084
42 GAA p.Gly607Asp VAR_018096 rs139338612
43 GAA p.Ala880Asp VAR_018097
44 GAA p.Leu208Pro VAR_029025
45 GAA p.Arg224Trp VAR_029026 rs757700700
46 GAA p.Ala237Val VAR_029027 rs121907944
47 GAA p.Glu262Lys VAR_029028 rs201896815
48 GAA p.Pro324Leu VAR_029029 rs750030887
49 GAA p.Trp330Gly VAR_029030
50 GAA p.Pro361Leu VAR_029031 rs755253527

ClinVar genetic disease variations for Glycogen Storage Disease Ii:

6 (show top 50) (show all 1120)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAA NM_000152.4(GAA): c.271G> A (p.Asp91Asn) single nucleotide variant Benign/Likely benign, other rs1800299 GRCh37 Chromosome 17, 78078656: 78078656
2 GAA NM_000152.4(GAA): c.271G> A (p.Asp91Asn) single nucleotide variant Benign/Likely benign, other rs1800299 GRCh38 Chromosome 17, 80104857: 80104857
3 GAA NM_000152.4(GAA): c.1561G> A (p.Glu521Lys) single nucleotide variant Likely pathogenic rs121907937 GRCh37 Chromosome 17, 78084749: 78084749
4 GAA NM_000152.4(GAA): c.1561G> A (p.Glu521Lys) single nucleotide variant Likely pathogenic rs121907937 GRCh38 Chromosome 17, 80110950: 80110950
5 GAA NM_000152.4(GAA): c.1927G> A (p.Gly643Arg) single nucleotide variant Pathogenic rs28937909 GRCh37 Chromosome 17, 78086713: 78086713
6 GAA NM_000152.4(GAA): c.1927G> A (p.Gly643Arg) single nucleotide variant Pathogenic rs28937909 GRCh38 Chromosome 17, 80112914: 80112914
7 GAA NM_000152.4(GAA): c.2173C> T (p.Arg725Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121907938 GRCh37 Chromosome 17, 78087149: 78087149
8 GAA NM_000152.4(GAA): c.2173C> T (p.Arg725Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121907938 GRCh38 Chromosome 17, 80113350: 80113350
9 GAA NM_000152.4(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 GRCh37 Chromosome 17, 78078341: 78078341
10 GAA NM_000152.4(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 GRCh38 Chromosome 17, 80104542: 80104542
11 GAA NM_000152.4(GAA): c.1935C> A (p.Asp645Glu) single nucleotide variant Pathogenic rs28940868 GRCh37 Chromosome 17, 78086721: 78086721
12 GAA NM_000152.4(GAA): c.1935C> A (p.Asp645Glu) single nucleotide variant Pathogenic rs28940868 GRCh38 Chromosome 17, 80112922: 80112922
13 GAA NM_000152.3(GAA): c.2065G> A (p.Glu689Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1800309 GRCh37 Chromosome 17, 78087041: 78087041
14 GAA NM_000152.3(GAA): c.2065G> A (p.Glu689Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1800309 GRCh38 Chromosome 17, 80113242: 80113242
15 GAA NM_000152.4(GAA): c.2482_2646del165 (p.Gly828_Asn882del) deletion Pathogenic rs1555603048 GRCh37 Chromosome 17, 78091992: 78092156
16 GAA NM_000152.4(GAA): c.2482_2646del165 (p.Gly828_Asn882del) deletion Pathogenic rs1555603048 GRCh38 Chromosome 17, 80118193: 80118357
17 GAA NM_000152.3(GAA): c.525delT (p.Glu176Argfs) deletion Pathogenic rs386834235 GRCh37 Chromosome 17, 78078910: 78078910
18 GAA NM_000152.3(GAA): c.525delT (p.Glu176Argfs) deletion Pathogenic rs386834235 GRCh38 Chromosome 17, 80105111: 80105111
19 GAA NM_000152.3(GAA): c.2560C> T (p.Arg854Ter) single nucleotide variant Pathogenic rs121907943 GRCh37 Chromosome 17, 78092070: 78092070
20 GAA NM_000152.3(GAA): c.2560C> T (p.Arg854Ter) single nucleotide variant Pathogenic rs121907943 GRCh38 Chromosome 17, 80118271: 80118271
21 GAA NM_000152.4(GAA): c.710C> T (p.Ala237Val) single nucleotide variant Uncertain significance rs121907944 GRCh37 Chromosome 17, 78081373: 78081373
22 GAA NM_000152.4(GAA): c.710C> T (p.Ala237Val) single nucleotide variant Uncertain significance rs121907944 GRCh38 Chromosome 17, 80107574: 80107574
23 GAA NM_000152.4(GAA): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121907945 GRCh37 Chromosome 17, 78081617: 78081617
24 GAA NM_000152.4(GAA): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121907945 GRCh38 Chromosome 17, 80107818: 80107818
25 GAA GAA, IVS1AS, G-C, -1 single nucleotide variant Pathogenic
26 GAA NM_000152.4(GAA): c.*3G> A single nucleotide variant Benign/Likely benign rs1800317 GRCh37 Chromosome 17, 78093133: 78093133
27 GAA NM_000152.4(GAA): c.*3G> A single nucleotide variant Benign/Likely benign rs1800317 GRCh38 Chromosome 17, 80119334: 80119334
28 GAA NM_000152.4(GAA): c.1203G> A (p.Gln401=) single nucleotide variant Benign rs1800304 GRCh37 Chromosome 17, 78082504: 78082504
29 GAA NM_000152.4(GAA): c.1203G> A (p.Gln401=) single nucleotide variant Benign rs1800304 GRCh38 Chromosome 17, 80108705: 80108705
30 GAA NM_000152.4(GAA): c.1327-18A> G single nucleotide variant Benign rs2278619 GRCh37 Chromosome 17, 78083726: 78083726
31 GAA NM_000152.4(GAA): c.1327-18A> G single nucleotide variant Benign rs2278619 GRCh38 Chromosome 17, 80109927: 80109927
32 GAA NM_000152.4(GAA): c.1374C> T (p.Tyr458=) single nucleotide variant Benign/Likely benign rs1800305 GRCh37 Chromosome 17, 78083791: 78083791
33 GAA NM_000152.4(GAA): c.1374C> T (p.Tyr458=) single nucleotide variant Benign/Likely benign rs1800305 GRCh38 Chromosome 17, 80109992: 80109992
34 GAA NM_000152.4(GAA): c.1438-19G> C single nucleotide variant Benign rs2304844 GRCh37 Chromosome 17, 78084507: 78084507
35 GAA NM_000152.4(GAA): c.1438-19G> C single nucleotide variant Benign rs2304844 GRCh38 Chromosome 17, 80110708: 80110708
36 GAA NM_000152.4(GAA): c.1465G> A (p.Asp489Asn) single nucleotide variant Pathogenic/Likely pathogenic rs398123169 GRCh37 Chromosome 17, 78084553: 78084553
37 GAA NM_000152.4(GAA): c.1465G> A (p.Asp489Asn) single nucleotide variant Pathogenic/Likely pathogenic rs398123169 GRCh38 Chromosome 17, 80110754: 80110754
38 GAA NM_000152.4(GAA): c.1581G> A (p.Arg527=) single nucleotide variant Benign/Likely benign rs1042396 GRCh37 Chromosome 17, 78084769: 78084769
39 GAA NM_000152.4(GAA): c.1581G> A (p.Arg527=) single nucleotide variant Benign/Likely benign rs1042396 GRCh38 Chromosome 17, 80110970: 80110970
40 GAA NM_000152.4(GAA): c.1726G> A (p.Gly576Ser) single nucleotide variant Benign/Likely benign, other rs1800307 GRCh37 Chromosome 17, 78085871: 78085871
41 GAA NM_000152.4(GAA): c.1726G> A (p.Gly576Ser) single nucleotide variant Benign/Likely benign, other rs1800307 GRCh38 Chromosome 17, 80112072: 80112072
42 GAA NM_000152.4(GAA): c.1754+12G> A single nucleotide variant Benign/Likely benign rs2304840 GRCh37 Chromosome 17, 78085911: 78085911
43 GAA NM_000152.4(GAA): c.1754+12G> A single nucleotide variant Benign/Likely benign rs2304840 GRCh38 Chromosome 17, 80112112: 80112112
44 GAA NM_000152.4(GAA): c.2012T> G (p.Met671Arg) single nucleotide variant Pathogenic rs398123170 GRCh37 Chromosome 17, 78086798: 78086798
45 GAA NM_000152.4(GAA): c.2012T> G (p.Met671Arg) single nucleotide variant Pathogenic rs398123170 GRCh38 Chromosome 17, 80112999: 80112999
46 GAA NM_000152.4(GAA): c.2040+20A> G single nucleotide variant Benign rs2304836 GRCh37 Chromosome 17, 78086846: 78086846
47 GAA NM_000152.4(GAA): c.2040+20A> G single nucleotide variant Benign rs2304836 GRCh38 Chromosome 17, 80113047: 80113047
48 GAA NM_000152.4(GAA): c.2066_2070dup (p.Ala691Serfs) duplication Pathogenic rs398123171 GRCh37 Chromosome 17, 78087042: 78087046
49 GAA NM_000152.4(GAA): c.2066_2070dup (p.Ala691Serfs) duplication Pathogenic rs398123171 GRCh38 Chromosome 17, 80113243: 80113247
50 GAA NM_000152.4(GAA): c.2105G> T (p.Arg702Leu) single nucleotide variant Likely pathogenic rs398123172 GRCh37 Chromosome 17, 78087081: 78087081

Expression for Glycogen Storage Disease Ii

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

Pathways for Glycogen Storage Disease Ii

Pathways related to Glycogen Storage Disease Ii according to KEGG:

38
# Name Kegg Source Accession
1 Galactose metabolism hsa00052
2 Lysosome hsa04142

GO Terms for Glycogen Storage Disease Ii

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.43 GAA IGF2R LAMP2
2 extracellular exosome GO:0070062 9.43 GAA IGF2R LAMP2 MGAM PYGM SI
3 lysosomal lumen GO:0043202 9.4 GAA LAMP2
4 tertiary granule membrane GO:0070821 9.37 GAA MGAM
5 lysosomal membrane GO:0005765 9.33 GAA IGF2R LAMP2
6 azurophil granule membrane GO:0035577 9.32 GAA LAMP2
7 ficolin-1-rich granule membrane GO:0101003 8.8 GAA LAMP2 MGAM

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.73 GAA IGF2R LAMP2 MGAM
2 carbohydrate metabolic process GO:0005975 9.62 GAA MGAM PYGM SI
3 cardiac muscle contraction GO:0060048 9.46 DMD GAA
4 metabolic process GO:0008152 9.46 GAA MGAM PYGM SI
5 glycogen catabolic process GO:0005980 9.4 GAA PYGM
6 polysaccharide digestion GO:0044245 9.37 MGAM SI
7 maltose metabolic process GO:0000023 9.26 GAA MGAM
8 glycogen metabolic process GO:0005977 9.13 GAA PRKAG2 PYGM
9 muscle cell cellular homeostasis GO:0046716 8.8 DMD GAA LAMP2

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.58 GAA MGAM PYGM
2 carbohydrate binding GO:0030246 9.54 GAA MGAM SI
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 GAA MGAM SI
4 alpha-glucosidase activity GO:0090599 9.26 GAA MGAM
5 maltose alpha-glucosidase activity GO:0032450 9.16 GAA MGAM
6 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.13 GAA MGAM SI
7 alpha-1,4-glucosidase activity GO:0004558 8.62 GAA MGAM

Sources for Glycogen Storage Disease Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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