MCID: GLY008
MIFTS: 64

Glycogen Storage Disease Ii

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

Aliases & Classifications for Glycogen Storage Disease Ii

MalaCards integrated aliases for Glycogen Storage Disease Ii:

Name: Glycogen Storage Disease Ii 57 12 75 13 15
Glycogen Storage Disease Type Ii 12 76 24 25 59 37 44 73
Pompe Disease 57 24 53 25 54 59 75 55
Acid Maltase Deficiency 57 12 76 24 25 75
Gsd Ii 57 24 53 25 75
Alpha-1,4-Glucosidase Deficiency 57 53 25 75
Glycogenosis Type Ii 76 24 25 59
Gaa Deficiency 57 24 25 75
Amd 57 25 75 3
Acid Alpha-Glucosidase Deficiency 57 24 75
Glycogen Storage Disease, Type Ii 12 29 6
Pompe's Disease 12 76 25
Gsd2 57 25 75
Cardiomegalia Glycogenica Diffusa 57 53
Glycogen Storage Disease Type 2 53 59
Acid Maltase Deficiency Disease 53 25
Deficiency of Alpha-Glucosidase 53 25
Glycogen Storage Disease Due to Acid Maltase Deficiency 59
Generalized Glycogen Storage Disease of Infants 73
Glycogenosis Due to Acid Maltase Deficiency 59
Lysosomal Alpha-1,4-Glucosidase Deficiency 12
Gsd Ii; Acid Alpha-Glucosidase Deficiency 57
Deficiency of Lysosomal Alpha-Glucosidase 53
Cardiac Form of Generalized Glycogenosis 73
Glycogenosis, Generalized, Cardiac Form 57
Alpha-1,4-Glucosidase Acid Deficiency 59
Glycogenosis Generalized Cardiac Form 75
Gsd Due to Acid Maltase Deficiency 59
Storage Disease, Glycogen, Type Ii 40
Acid Maltase Deficiency; Amd 57
Deficiency of Glucoamylase 12
Glycogen Storage Disease 2 75
Cardiomegalia Glycogenica 75
Generalized Glycogenosis 12
Glucosidase, Acid Alpha- 13
Deficiency of Maltase 12
Glycogenosis, Type 2 12
Glycogenosis Type 2 59
Aglucosidase Alfa 53
Glycogenosis Ii 75
Gsd Type Ii 59
Gsd Type 2 59
Gsd-Ii 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
glycogen storage disease ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ii

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 Ii, also known as glycogen storage disease type ii, is related to danon disease and glycogen storage disease, 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 Methotrexate and rituximab have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are seizures and muscular hypotonia

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 : 25 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 : 53 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 : 57 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 Imagine doing a 10,000-piece jigsaw puzzle in the time it takes to finish a 100-piece puzzle. Apply that to infectious disease control, and that’s AMD at work. Now imagine putting together that 10,000-piece puzzle when key pieces are missing, disease is spreading, and people are dying. AMD gives CDC scientists the “key pieces” they need to protect people from ever-changing infectious disease threats.

UniProtKB/Swiss-Prot : 75 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 : 76 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 64)
# Related Disease Score Top Affiliating Genes
1 danon disease 31.7 GAA LAMP2 PRKAG2
2 glycogen storage disease 29.6 GAA LAMP2 PRKAG2 PYGM
3 myopathy 29.2 DMD GAA LAMP2 PYGM
4 neurological manifestations of pompe disease 12.4
5 glycogen storage disease due to acid maltase deficiency, infantile onset 12.3
6 glycogen storage disease due to acid maltase deficiency, late-onset 12.2
7 macular degeneration, age-related, 1 12.2
8 glycogen storage disease ixa1 11.0
9 stargardt disease 1 10.9
10 adrenomyodystrophy 10.9
11 langerhans cell histiocytosis 10.9
12 aging 10.6
13 phosphatase, acid, of tissues 10.5 GAA LAMP2
14 glycogen storage disease v 10.3 GAA PYGM
15 oculopharyngeal muscular dystrophy 10.3 GAA PYGM
16 carbohydrate metabolic disorder 10.2 GAA PYGM
17 myoglobinuria, recurrent 10.2 DMD PYGM
18 choroiditis 10.2
19 retinitis 10.2
20 glycogen storage disease vii 10.1 MGAM PYGM
21 facioscapulohumeral muscular dystrophy 1 10.1 DMD GAA
22 rigid spine muscular dystrophy 1 10.0 DMD GAA
23 endotheliitis 10.0
24 fabry disease 10.0 LAMP2 PRKAG2
25 myopathy, x-linked, with excessive autophagy 10.0 DMD GAA LAMP2
26 respiratory failure 9.9
27 myotonia 9.9
28 endocardial fibroelastosis 9.9
29 lysosomal storage disease 9.9
30 cataract 9.8
31 macular retinal edema 9.8
32 diabetic macular edema 9.8
33 anorexia nervosa 9.7
34 hemangioma 9.7
35 alzheimer disease 9.7
36 breast cancer 9.7
37 rheumatoid arthritis 9.7
38 myocardial infarction 9.7
39 gastric cancer 9.7
40 melioidosis 9.7
41 stargardt disease 9.7
42 pulmonary hypertension 9.7
43 arthritis 9.7
44 diabetes mellitus 9.7
45 inflammatory bowel disease 9.7
46 lymphoma 9.7
47 thrombosis 9.7
48 endocarditis 9.7
49 patau syndrome 9.7
50 sympathetic ophthalmia 9.7

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
macroglossia

Abdomen Liver:
hepatomegaly

Respiratory:
dyspnea
respiratory failure due to muscle weakness
respiratory infections

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

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

AbdomenSpleen:
splenomegaly

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

Chest Ribs Sternum Clavicles And Scapulae:
diaphragmatic paralysis

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

Human phenotypes related to Glycogen Storage Disease Ii:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
4 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
5 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
6 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
7 macroglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000158
8 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
9 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
10 type ii diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005978
11 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
12 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
13 cardiomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001640
14 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
15 atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0001678
16 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
17 emphysema 59 32 hallmark (90%) Very frequent (99-80%) HP:0002097
18 respiratory insufficiency due to muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002747
19 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
20 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
21 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
22 abdominal wall muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009023
23 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
24 respiratory insufficiency 32 HP:0002093
25 hearing impairment 32 HP:0000365
26 splenomegaly 32 HP:0001744
27 fever 32 HP:0001945
28 abnormality of the cardiovascular system 59 Very frequent (99-80%)
29 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
30 wolff-parkinson-white syndrome 32 HP:0001716
31 areflexia 32 HP:0001284
32 diaphragmatic paralysis 32 HP:0006597
33 proximal muscle weakness 32 HP:0003701
34 generalized hypotonia 32 HP:0001290
35 abnormal cns myelination 32 HP:0011400
36 shortened pr interval 32 HP:0005165
37 firm muscles 32 HP:0003725
38 dilatation of the cerebral artery 32 HP:0004944

UMLS symptoms related to Glycogen Storage Disease Ii:


dyspnea, weakness

MGI Mouse Phenotypes related to Glycogen Storage Disease Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 DMD DNASE1L1 GAA IGF2R LAMP2 PRKAG2
2 homeostasis/metabolism MP:0005376 9.5 GAA IGF2R LAMP2 MGAM PRKAG2 PYGM
3 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 84)
# 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 Adrenergic Agents Phase 4,Phase 1,Phase 2
8 Adrenergic Agonists Phase 4,Phase 1,Phase 2
9 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
10 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
11 Albuterol Phase 4,Phase 1,Phase 2
12 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
13 Autonomic Agents Phase 4,Phase 1,Phase 2
14 Bronchodilator Agents Phase 4,Phase 1,Phase 2
15 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Early Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
17 Respiratory System Agents Phase 4,Phase 1,Phase 2
18 Tocolytic Agents Phase 4,Phase 1,Phase 2
19 Antimetabolites Phase 4
20 Antimetabolites, Antineoplastic Phase 4
21 Antirheumatic Agents Phase 4,Phase 1
22 Dermatologic Agents Phase 4,Phase 1
23 Folic Acid Antagonists Phase 4
24 Immunosuppressive Agents Phase 4,Phase 1
25 Nucleic Acid Synthesis Inhibitors Phase 4
26 Vitamin B Complex Phase 4
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
Clenbuterol Approved, Investigational, Vet_approved Phase 1, Phase 2 37148-27-9 2783
38
Miglustat Approved Phase 1, Phase 2 72599-27-0 51634
39 Anti-HIV Agents Phase 1, Phase 2
40 Anti-Infective Agents Phase 1, Phase 2
41 Anti-Retroviral Agents Phase 1, Phase 2
42 Antiviral Agents Phase 1, Phase 2
43 Cardiac Glycosides Phase 1, Phase 2
44 Glycoside Hydrolase Inhibitors Phase 1, Phase 2
45 Hypoglycemic Agents Phase 1, Phase 2
46
Everolimus Approved Phase 1 159351-69-6 6442177
47
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
48
Acetaminophen Approved Phase 1 103-90-2 1983
49
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
50
Diphenhydramine Approved, Investigational Phase 1 147-24-0, 58-73-1 3100

Interventional clinical trials:

(show top 50) (show all 97)
# 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 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
9 Immune Tolerance Induction Study Active, not recruiting NCT00701701 Phase 4
10 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
11 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
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 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 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
21 Safety and Efficacy of Albuterol in Individuals With Late-onset Pompe Disease Completed NCT01885936 Phase 1, Phase 2 Albuterol;Placebo
22 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
23 rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease) Completed NCT00053573 Phase 1, Phase 2
24 Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease Completed NCT01230801 Phase 1, Phase 2
25 A Study of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
26 A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II Completed NCT00051935 Phase 2 Alglucosidase alfa
27 Drug-drug Interaction Study Completed NCT01380743 Phase 2 duvoglustat hydrochloride
28 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
29 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
30 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)
31 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
32 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
33 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
34 AAV2/8-LSPhGAA in Late-Onset Pompe Disease Not yet recruiting NCT03533673 Phase 1, Phase 2
35 Study to Evaluate the Safety of AT2220 in Pompe Disease Terminated NCT00688597 Phase 2 AT2220;AT2220;AT2220
36 Extension Study for Patients Who Have Participated in a BMN 701 Study Terminated NCT01435772 Phase 2
37 A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Terminated NCT02191917 Phase 2
38 High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease Withdrawn NCT01656590 Phase 2
39 Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Completed NCT01859624 Phase 1 Albuterol
40 Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. Completed NCT01898364 Phase 1 GZ402666
41 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
42 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1 Zavesca® Prescription
43 Prevalence of Pompe's Disease in Respiratory Clinics Unknown status NCT02527239
44 A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI Unknown status NCT01914536
45 An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- Unknown status NCT02708784
46 Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. Unknown status NCT02654886 Not Applicable
47 Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry Unknown status NCT01409486
48 Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia Unknown status NCT01482494
49 Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices Unknown status NCT02838368
50 Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT Unknown status NCT02761421

Search NIH Clinical Center for Glycogen Storage Disease Ii

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 GAA

Anatomical Context for Glycogen Storage Disease Ii

MalaCards organs/tissues related to Glycogen Storage Disease Ii:

41
Heart, Skeletal Muscle, Testes, Tongue, Liver, Lung, Brain

Publications for Glycogen Storage Disease Ii

Articles related to Glycogen Storage Disease Ii:

(show top 50) (show all 99)
# Title Authors Year
1
Pulmonary Hypertension in Glycogen Storage Disease Type II. ( 29786057 )
2018
2
Perioperative management of children with glycogen storage disease type II-Pompe disease. ( 29575534 )
2018
3
Glycogen Storage Disease, Type II (Pompe Disease) ( 29262159 )
2017
4
Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease). ( 27384519 )
2016
5
[Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II]. ( 26575883 )
2015
6
ANESTHESIA MANAGEMENT IN AN INFANT WITH GLYCOGEN STORAGE DISEASE TYPE II (POMPE DISEASE). ( 26860026 )
2015
7
Impaired Autophagy Affects acid I+-Glucosidase Processing and Enzyme Replacement Therapy Efficacy in Late-Onset Glycogen Storage Disease Type II. ( 25559662 )
2015
8
Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience. ( 25093132 )
2014
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
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. ( 23360637 )
2013
11
Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients. ( 23884227 )
2013
12
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). ( 22595755 )
2012
13
Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients. ( 22940840 )
2012
14
Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy. ( 23182645 )
2012
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
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. ( 21179066 )
2011
18
Novel mutations in the gene encoding acid I+-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence. ( 22185990 )
2011
19
Late onset glycogen storage disease type II with reducing body-like inclusions. ( 20040332 )
2010
20
Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. ( 19138339 )
2009
21
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases. ( 19771425 )
2009
22
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. ( 21179524 )
2009
23
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. ( 19362502 )
2009
24
Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. ( 19609281 )
2009
25
Therapeutic approaches in glycogen storage disease type II/Pompe Disease. ( 19019308 )
2008
26
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
27
Molecular diagnosis of German patients with late-onset glycogen storage disease type II. ( 18607768 )
2008
28
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. ( 18704279 )
2008
29
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
30
Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic. ( 17523960 )
2007
31
Molecular genetics of late onset glycogen storage disease II in Italy. ( 17915575 )
2007
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
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. ( 17616415 )
2007
35
Evidence of cardiomyocyte necrosis in glycogen storage disease type II. ( 17270099 )
2007
36
Glycogen storage disease type II: clinical overview. ( 17915568 )
2007
37
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. ( 16987711 )
2006
38
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. ( 16898258 )
2006
39
Two new missense mutations of GAA in late onset glycogen storage disease type II. ( 17092519 )
2006
40
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. ( 16917947 )
2006
41
The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II. ( 16601900 )
2006
42
Two clinical forms of glycogen-storage disease type II in two generations of the same family. ( 16433701 )
2006
43
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. ( 16359900 )
2006
44
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II. ( 16005263 )
2005
45
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. ( 15922959 )
2005
46
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
47
Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II. ( 15585406 )
2005
48
Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors. ( 15920463 )
2005
49
Glycogen storage disease type II diagnosed in a 74-year-old woman. ( 15161487 )
2004
50
Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. ( 15153218 )
2004

Variations for Glycogen Storage Disease Ii

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

75 (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
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 rs1057516600Glycogen
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
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 780)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAA NM_000152.4(GAA): c.1561G> A (p.Glu521Lys) single nucleotide variant Likely pathogenic rs121907937 GRCh37 Chromosome 17, 78084749: 78084749
2 GAA NM_000152.4(GAA): c.1561G> A (p.Glu521Lys) single nucleotide variant Likely pathogenic rs121907937 GRCh38 Chromosome 17, 80110950: 80110950
3 GAA NM_000152.4(GAA): c.1927G> A (p.Gly643Arg) single nucleotide variant Pathogenic rs28937909 GRCh37 Chromosome 17, 78086713: 78086713
4 GAA NM_000152.4(GAA): c.1927G> A (p.Gly643Arg) single nucleotide variant Pathogenic rs28937909 GRCh38 Chromosome 17, 80112914: 80112914
5 GAA NM_000152.4(GAA): c.2173C> T (p.Arg725Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121907938 GRCh37 Chromosome 17, 78087149: 78087149
6 GAA NM_000152.4(GAA): c.2173C> T (p.Arg725Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121907938 GRCh38 Chromosome 17, 80113350: 80113350
7 GAA NM_000152.4(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 GRCh37 Chromosome 17, 78078341: 78078341
8 GAA NM_000152.4(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 GRCh38 Chromosome 17, 80104542: 80104542
9 GAA NM_000152.4(GAA): c.1935C> A (p.Asp645Glu) single nucleotide variant Pathogenic rs28940868 GRCh37 Chromosome 17, 78086721: 78086721
10 GAA NM_000152.4(GAA): c.1935C> A (p.Asp645Glu) single nucleotide variant Pathogenic rs28940868 GRCh38 Chromosome 17, 80112922: 80112922
11 GAA NM_000152.4(GAA): c.2482_2646del165 (p.Gly828_Asn882del) deletion Pathogenic GRCh37 Chromosome 17, 78091992: 78092156
12 GAA NM_000152.4(GAA): c.2482_2646del165 (p.Gly828_Asn882del) deletion Pathogenic GRCh38 Chromosome 17, 80118193: 80118357
13 GAA NM_000152.4(GAA): c.525delT (p.Glu176Argfs) deletion Pathogenic rs386834235 GRCh37 Chromosome 17, 78078910: 78078910
14 GAA NM_000152.4(GAA): c.525delT (p.Glu176Argfs) deletion Pathogenic rs386834235 GRCh38 Chromosome 17, 80105111: 80105111
15 GAA NM_000152.4(GAA): c.2560C> T (p.Arg854Ter) single nucleotide variant Pathogenic rs121907943 GRCh37 Chromosome 17, 78092070: 78092070
16 GAA NM_000152.4(GAA): c.2560C> T (p.Arg854Ter) single nucleotide variant Pathogenic rs121907943 GRCh38 Chromosome 17, 80118271: 80118271
17 GAA NM_000152.4(GAA): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121907945 GRCh37 Chromosome 17, 78081617: 78081617
18 GAA NM_000152.4(GAA): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121907945 GRCh38 Chromosome 17, 80107818: 80107818
19 GAA GAA, IVS1AS, G-C, -1 single nucleotide variant Pathogenic
20 GAA NM_000152.4(GAA): c.1465G> A (p.Asp489Asn) single nucleotide variant Pathogenic rs398123169 GRCh37 Chromosome 17, 78084553: 78084553
21 GAA NM_000152.4(GAA): c.1465G> A (p.Asp489Asn) single nucleotide variant Pathogenic rs398123169 GRCh38 Chromosome 17, 80110754: 80110754
22 GAA NM_000152.4(GAA): c.2012T> G (p.Met671Arg) single nucleotide variant Pathogenic rs398123170 GRCh37 Chromosome 17, 78086798: 78086798
23 GAA NM_000152.4(GAA): c.2012T> G (p.Met671Arg) single nucleotide variant Pathogenic rs398123170 GRCh38 Chromosome 17, 80112999: 80112999
24 GAA NM_000152.4(GAA): c.2066_2070dupAGCCG (p.Ala691Serfs) duplication Pathogenic rs398123171 GRCh37 Chromosome 17, 78087042: 78087046
25 GAA NM_000152.4(GAA): c.2066_2070dupAGCCG (p.Ala691Serfs) duplication Pathogenic rs398123171 GRCh38 Chromosome 17, 80113243: 80113247
26 GAA NM_000152.4(GAA): c.2105G> T (p.Arg702Leu) single nucleotide variant Likely pathogenic rs398123172 GRCh37 Chromosome 17, 78087081: 78087081
27 GAA NM_000152.4(GAA): c.2105G> T (p.Arg702Leu) single nucleotide variant Likely pathogenic rs398123172 GRCh38 Chromosome 17, 80113282: 80113282
28 GAA NM_000152.4(GAA): c.2512C> T (p.Gln838Ter) single nucleotide variant Pathogenic rs369532274 GRCh37 Chromosome 17, 78092022: 78092022
29 GAA NM_000152.4(GAA): c.2512C> T (p.Gln838Ter) single nucleotide variant Pathogenic rs369532274 GRCh38 Chromosome 17, 80118223: 80118223
30 GAA NM_000152.4(GAA): c.2544delC (p.Lys849Argfs) deletion Pathogenic rs398123173 GRCh37 Chromosome 17, 78092054: 78092054
31 GAA NM_000152.4(GAA): c.2544delC (p.Lys849Argfs) deletion Pathogenic rs398123173 GRCh38 Chromosome 17, 80118255: 80118255
32 GAA NM_000152.4(GAA): c.307T> G (p.Cys103Gly) single nucleotide variant Pathogenic rs398123174 GRCh37 Chromosome 17, 78078692: 78078692
33 GAA NM_000152.4(GAA): c.307T> G (p.Cys103Gly) single nucleotide variant Pathogenic rs398123174 GRCh38 Chromosome 17, 80104893: 80104893
34 CCDC40; GAA NM_017950.3(CCDC40): c.3210A> G (p.Thr1070=) single nucleotide variant Benign rs56407805 GRCh37 Chromosome 17, 78073355: 78073355
35 CCDC40; GAA NM_017950.3(CCDC40): c.3210A> G (p.Thr1070=) single nucleotide variant Benign rs56407805 GRCh38 Chromosome 17, 80099556: 80099556
36 CCDC40; GAA NM_017950.3(CCDC40): c.*15T> C single nucleotide variant Benign rs2304853 GRCh37 Chromosome 17, 78073589: 78073589
37 CCDC40; GAA NM_017950.3(CCDC40): c.*15T> C single nucleotide variant Benign rs2304853 GRCh38 Chromosome 17, 80099790: 80099790
38 CCDC40; GAA NM_017950.3(CCDC40): c.3030T> C (p.Asp1010=) single nucleotide variant Benign rs12952612 GRCh37 Chromosome 17, 78071052: 78071052
39 CCDC40; GAA NM_017950.3(CCDC40): c.3030T> C (p.Asp1010=) single nucleotide variant Benign rs12952612 GRCh38 Chromosome 17, 80097253: 80097253
40 CCDC40; GAA NM_017950.3(CCDC40): c.3417A> G (p.Pro1139=) single nucleotide variant Benign rs2304854 GRCh37 Chromosome 17, 78073562: 78073562
41 CCDC40; GAA NM_017950.3(CCDC40): c.3417A> G (p.Pro1139=) single nucleotide variant Benign rs2304854 GRCh38 Chromosome 17, 80099763: 80099763
42 GAA NM_000152.4(GAA): c.1841C> A (p.Thr614Lys) single nucleotide variant Likely pathogenic rs369531647 GRCh37 Chromosome 17, 78086463: 78086463
43 GAA NM_000152.4(GAA): c.1841C> A (p.Thr614Lys) single nucleotide variant Likely pathogenic rs369531647 GRCh38 Chromosome 17, 80112664: 80112664
44 GAA NM_000152.4(GAA): c.2400C> T (p.Ser800=) single nucleotide variant Benign rs115705591 GRCh37 Chromosome 17, 78091467: 78091467
45 GAA NM_000152.4(GAA): c.2400C> T (p.Ser800=) single nucleotide variant Benign rs115705591 GRCh38 Chromosome 17, 80117668: 80117668
46 GAA NM_000152.4(GAA): c.1004G> A (p.Gly335Glu) single nucleotide variant Pathogenic rs730880022 GRCh37 Chromosome 17, 78082137: 78082137
47 GAA NM_000152.4(GAA): c.1004G> A (p.Gly335Glu) single nucleotide variant Pathogenic rs730880022 GRCh38 Chromosome 17, 80108338: 80108338
48 GAA NM_000152.4(GAA): c.2078dupA (p.Ala694Glyfs) duplication Pathogenic rs730880372 GRCh37 Chromosome 17, 78087054: 78087054
49 GAA NM_000152.4(GAA): c.2078dupA (p.Ala694Glyfs) duplication Pathogenic rs730880372 GRCh38 Chromosome 17, 80113255: 80113255
50 GAA NM_000152.4(GAA): c.896T> C (p.Leu299Pro) single nucleotide variant Pathogenic rs121907940 GRCh37 Chromosome 17, 78081636: 78081636

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:

37
# Name Kegg Source Accession
1 Galactose metabolism hsa00052
2 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1 11.22 GAA IGF2R LAMP2
2
Show member pathways
10.88 GAA MGAM PYGM

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 9.5 GAA IGF2R LAMP2
2 extracellular exosome GO:0070062 9.5 DNASE1L1 GAA GANAB IGF2R LAMP2 MGAM
3 tertiary granule membrane GO:0070821 9.37 GAA MGAM
4 lysosomal membrane GO:0005765 9.33 GAA IGF2R LAMP2
5 azurophil granule membrane GO:0035577 9.26 GAA LAMP2
6 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 metabolic process GO:0008152 9.67 GAA GANAB MGAM PYGM
2 carbohydrate metabolic process GO:0005975 9.62 GAA GANAB MGAM PYGM
3 neutrophil degranulation GO:0043312 9.55 DNASE1L1 GAA IGF2R LAMP2 MGAM
4 cardiac muscle contraction GO:0060048 9.43 DMD GAA
5 glycogen catabolic process GO:0005980 9.4 GAA PYGM
6 maltose metabolic process GO:0000023 9.26 GAA MGAM
7 glycogen metabolic process GO:0005977 9.13 GAA PRKAG2 PYGM
8 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 9.62 GAA GANAB MGAM PYGM
2 carbohydrate binding GO:0030246 9.58 GAA GANAB MGAM
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.54 GAA GANAB MGAM
4 alpha-1,4-glucosidase activity GO:0004558 9.26 GAA MGAM
5 alpha-glucosidase activity GO:0090599 9.16 GAA MGAM
6 maltose alpha-glucosidase activity GO:0032450 8.96 GAA MGAM
7 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.8 GAA GANAB MGAM

Sources for Glycogen Storage Disease Ii

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
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