GSD2
MCID: GLY008
MIFTS: 70

Glycogen Storage Disease Ii (GSD2)

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

Aliases & Classifications for Glycogen Storage Disease Ii

MalaCards integrated aliases for Glycogen Storage Disease Ii:

Name: Glycogen Storage Disease Ii 56 12 73 13 15
Glycogen Storage Disease Type Ii 12 74 24 25 58 36 43 71
Pompe Disease 56 24 52 25 53 58 73 54
Acid Maltase Deficiency 56 12 74 24 25 53 73
Gsd Ii 56 24 52 25 73
Alpha-1,4-Glucosidase Deficiency 56 52 25 73
Glycogenosis Type Ii 74 24 25 58
Gaa Deficiency 56 24 25 73
Acid Alpha-Glucosidase Deficiency 56 24 73
Glycogen Storage Disease, Type Ii 12 29 6
Pompe's Disease 12 74 25
Gsd2 56 25 73
Amd 56 25 73
Cardiomegalia Glycogenica Diffusa 56 52
Glycogen Storage Disease Type 2 52 58
Acid Maltase Deficiency Disease 52 25
Deficiency of Alpha-Glucosidase 52 25
Glycogen Storage Disease Due to Acid Maltase Deficiency 58
Generalized Glycogen Storage Disease of Infants 71
Glycogenosis Due to Acid Maltase Deficiency 58
Lysosomal Alpha-1,4-Glucosidase Deficiency 12
Gsd Ii; Acid Alpha-Glucosidase Deficiency 56
Deficiency of Lysosomal Alpha-Glucosidase 52
Cardiac Form of Generalized Glycogenosis 71
Glycogenosis, Generalized, Cardiac Form 56
Alpha-1,4-Glucosidase Acid Deficiency 58
Glycogenosis Generalized Cardiac Form 73
Gsd Due to Acid Maltase Deficiency 58
Storage Disease, Glycogen, Type Ii 39
Acid Maltase Deficiency; Amd 56
Deficiency of Glucoamylase 12
Glycogen Storage Disease 2 73
Cardiomegalia Glycogenica 73
Generalized Glycogenosis 12
Deficiency of Maltase 12
Glycogenosis, Type 2 12
Glycogenosis Type 2 58
Aglucosidase Alfa 52
Glycogenosis Ii 73
Gsd Type Ii 58
Gsd Type 2 58
Gsd-Ii 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
glycogen storage disease ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Glycogen Storage Disease Ii

NINDS : 53 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 wolff-parkinson-white syndrome and danon 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 leucovorin and Bortezomib have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and liver, and related phenotypes are type ii diabetes mellitus and eeg abnormality

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. Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset. The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life. The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood. The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

NIH Rare Diseases : 52 Glycogen storage disease type 2 , also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic 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 : 56 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)

KEGG : 36 Glycogen storage disease type II (GSDII), also known as Pompe disease, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction.

UniProtKB/Swiss-Prot : 73 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 : 74 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 486)
# Related Disease Score Top Affiliating Genes
1 wolff-parkinson-white syndrome 32.8 PRKAG2 LAMP2 GAA
2 danon disease 32.3 TFEB SI PRKAG2 LAMP2 GAA
3 lysosomal glycogen storage disease 30.9 LAMP2 GAA
4 fabry disease 30.8 PRKAG2 M6PR LAMP2
5 rigid spine muscular dystrophy 1 30.6 GAA FKRP DMD
6 inherited metabolic disorder 30.6 SI MGAM IDUA
7 lysosomal storage disease 30.5 M6PR IGF2R IDUA GAA
8 scheie syndrome 30.3 SI IGF2R IDUA
9 limb-girdle muscular dystrophy 30.3 FKRP DMD CAV3
10 muscular disease 29.5 GAA FKRP DMD CAV3
11 hypertrophic cardiomyopathy 29.5 PRKAG2 LAMP2 GAA DMD CAV3
12 atrial standstill 1 29.4 PRKAG2 LAMP2 GAA FKRP DMD CAV3
13 mucopolysaccharidosis-plus syndrome 29.4 TFEB SI MGAM M6PR LAMP2 IGF2R
14 neuromuscular disease 28.9 GAA FKRP DMD CAV3 AMPD1
15 glycogen storage disease v 28.7 PYGM GYS1 GAA AMPD1 AGL
16 isolated elevated serum creatine phosphokinase levels 28.4 PYGM GAA FKRP DMD CAV3 AMPD1
17 glycogen storage disease 28.3 SI PYGM PRKAG2 MGAM LAMP2 GYS1
18 myopathy 26.8 PYGM LAMP2 GYS1 GYG1 GAA FKRP
19 neurological manifestations of pompe disease 12.7
20 macular degeneration, age-related, 1 12.6
21 glycogen storage disease ixa1 11.6
22 glycogen storage disease due to acid maltase deficiency, infantile onset 11.6
23 glycogen storage disease due to acid maltase deficiency, late-onset 11.6
24 reducing body myopathy 11.4
25 stargardt disease 1 11.3
26 adrenomyodystrophy 11.2
27 langerhans cell histiocytosis 11.2
28 hereditary late-onset parkinson disease 10.9
29 kuhnt-junius degeneration 10.8
30 yemenite deaf-blind hypopigmentation syndrome 10.8
31 autosomal recessive disease 10.7
32 hypotonia 10.7
33 microvascular complications of diabetes 5 10.5
34 phosphatase, acid, of tissues 10.5 LAMP2 GAA
35 cerebral lipidosis 10.5 M6PR IGF2R
36 pneumatosis cystoides intestinalis 10.4 SI MGAM
37 eye disease 10.4
38 hirata disease 10.4 SI MGAM
39 myoglobinuria, recurrent 10.4 PYGM DMD
40 miliaria 10.4 SI MGAM
41 postgastrectomy syndrome 10.4 SI MGAM
42 retinal degeneration 10.4
43 myopathy, x-linked, with excessive autophagy 10.4 LAMP2 GAA
44 muscular atrophy 10.4
45 barre-lieou syndrome 10.4 SI MGAM
46 retinal disease 10.4
47 parkinson disease 17 10.4 SI MGAM GAA
48 mucopolysaccharidosis iv 10.3 M6PR IGF2R IDUA
49 ptosis 10.3
50 dysphagia 10.3

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:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
4 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
5 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
6 cardiomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001640
7 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
8 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
9 emphysema 58 31 hallmark (90%) Very frequent (99-80%) HP:0002097
10 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
11 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
12 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
13 abdominal wall muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009023
14 seizure 31 hallmark (90%) HP:0001250
15 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
16 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
17 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
18 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
19 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
20 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
21 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
22 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
23 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
24 hearing impairment 31 HP:0000365
25 splenomegaly 31 HP:0001744
26 seizures 58 Very frequent (99-80%)
27 fever 31 HP:0001945
28 abnormality of the cardiovascular system 58 Very frequent (99-80%)
29 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
30 respiratory insufficiency 31 HP:0002093
31 areflexia 31 HP:0001284
32 diaphragmatic paralysis 31 HP:0006597
33 generalized hypotonia 31 HP:0001290
34 proximal muscle weakness 31 HP:0003701
35 abnormal cns myelination 31 HP:0011400
36 wolff-parkinson-white syndrome 31 HP:0001716
37 dilatation of the cerebral artery 31 HP:0004944
38 shortened pr interval 31 HP:0005165
39 firm muscles 31 HP:0003725

Symptoms via clinical synopsis from OMIM:

56
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

Neurologic Central Nervous System:
hypotonia
abnormal brain myelination

Neurologic Peripheral Nervous System:
absent deep tendon reflexes

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

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)

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

Head And Neck Ears:
hearing loss

Cardiovascular Vascular:
cerebral artery aneurysm

Clinical features from OMIM:

232300

UMLS symptoms related to Glycogen Storage Disease Ii:


dyspnea, weakness

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.64 PRKAG2
2 Decreased viability GR00221-A-2 9.64 PRKAG2
3 Decreased viability GR00249-S 9.64 AGL AMPD1 IDUA IGF2R MGAM PYGM
4 Decreased viability GR00381-A-1 9.64 FKRP IDUA
5 Decreased viability GR00386-A-1 9.64 AGL GYS1 M6PR MGAM SI STBD1
6 Decreased viability GR00402-S-2 9.64 DMD IDUA LAMP2 STBD1

MGI Mouse Phenotypes related to Glycogen Storage Disease Ii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 AGL DMD DNASE1L1 FKRP GAA GYG1
2 homeostasis/metabolism MP:0005376 10.13 AGL AMPD1 CAV3 DMD FKRP GAA
3 cardiovascular system MP:0005385 10.02 CAV3 DMD FKRP GAA GYG1 GYS1
4 liver/biliary system MP:0005370 9.76 AGL DMD FKRP GYS1 IDUA IGF2R
5 muscle MP:0005369 9.73 AGL AMPD1 CAV3 DMD FKRP GAA
6 skeleton MP:0005390 9.32 AGL DMD FKRP GAA GYG1 IDUA

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 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 6006 143
2
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
3
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
4
rituximab Approved Phase 4 174722-31-7 10201696
5
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
7 Albuterol Phase 4
8 Tocolytic Agents Phase 4
9 Vitamin B Complex Phase 4
10 Folic Acid Antagonists Phase 4
11 Dermatologic Agents Phase 4
12 Immunosuppressive Agents Phase 4
13 Folate Phase 4
14 Antirheumatic Agents Phase 4
15 Vitamin B9 Phase 4
16 Antimetabolites Phase 4
17 Antineoplastic Agents, Immunological Phase 4
18 Immunoglobulins, Intravenous Phase 4
19 Rho(D) Immune Globulin Phase 4
20 gamma-Globulins Phase 4
21
Miglustat Approved Phase 3 72599-27-0 51634
22
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
23 Pharmaceutical Solutions Phase 3
24 Anti-Infective Agents Phase 3
25 Anti-HIV Agents Phase 3
26 Cardiac Glycosides Phase 3
27 Antiviral Agents Phase 3
28 Hypoglycemic Agents Phase 3
29 Glycoside Hydrolase Inhibitors Phase 3
30 Anti-Retroviral Agents Phase 3
31
Clenbuterol Approved, Investigational, Vet_approved Phase 2 37148-27-9 2783
32
Coal tar Approved Phase 2 8007-45-2
33
1-Deoxynojirimycin Investigational Phase 2 19130-96-2 1374
34 Neurotransmitter Agents Phase 2
35 Adrenergic beta-Agonists Phase 2
36 Respiratory System Agents Phase 2
37 Adrenergic Agents Phase 2
38 Anti-Asthmatic Agents Phase 2
39 Adrenergic Agonists Phase 2
40 Bronchodilator Agents Phase 2
41 Sympathomimetics Phase 2
42
tannic acid Approved Phase 1 1401-55-4
43
Benzocaine Approved, Investigational Phase 1 94-09-7, 1994-09-7 2337
44
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
45
Promethazine Approved, Investigational Phase 1 60-87-7 4927
46
Histamine Approved, Investigational Phase 1 51-45-6 774
47
Acetaminophen Approved Phase 1 103-90-2 1983
48
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
49
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
50
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189

Interventional clinical trials:

(show top 50) (show all 119)
# Name Status NCT ID Phase Drugs
1 Efficacy of Continuous Positive Airway Pressure of Treatment of Hypernasality of Children With 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, CRIM(-) Patients With Infantile-onset Pompe Disease Completed NCT00701129 Phase 4 Methotrexate;Rituximab
4 An Open-Label Extension Study of Patients With Late-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU02704 Completed NCT00455195 Phase 4
5 An Exploratory, Open-Label Study of the Safety and Efficacy of High Dose or High Dosing Frequency Alglucosidase Alfa Treatment in Patients With Pompe Disease Who Do Not Have an Optimal Response to the Standard Dose Regimen Completed NCT00483379 Phase 4
6 A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
7 Immune Modulation Therapy for ERT-naïve or ERT-treated Pompe Disease Patients Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
8 A Phase 3/4 Prospective Study to Characterize the Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
9 A Single Arm, Prospective, Open-label, Multi-center Study to Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment Active, not recruiting NCT03687333 Phase 4 ALGLUCOSIDASE ALFA (MYOZYME)
10 A Long-term Study to Evaluate Growth and Development Outcomes in Patients With Infantile-Onset Pompe Disease Who Are Receiving Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
11 A Phase 4 Open Label, Prospective Study in Patients With Pompe Disease to Evaluate The Efficacy and Safety of Alglucosidase Alfa Produced at the 4000L Scale Terminated NCT01526785 Phase 4 Alglucosidase alfa
12 A Phase 3/4, Prospective, Multinational, Open-label, 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 An Exploratory Study of the Safety and Efficacy of Immune Tolerance Induction (ITI) in Patients With Pompe Disease Who Have Previously Received Myozyme Terminated NCT00701701 Phase 4
14 A Long-Term Continuation Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602 Completed NCT00125879 Phase 2, Phase 3
15 An Open-label, Multicenter, Multinational Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of Recombinant Human Acid Alpha-glucosidase Treatment in Patients Less Than 6 Months Old With Infantile-onset Pompe Disease Completed NCT00059280 Phase 2, Phase 3
16 Prospective, Open-label, Single-arm, Exploratory Study of the Effect and Safety of rhGAA in Patients With Advanced Late-onset Pompe Disease Who Are Receiving Respiratory Support Completed NCT00268944 Phase 3
17 Randomized, Double-Blind, Placebo-Controlled Study of the Safety, Efficacy and Pharmacokinetics of Myozyme in Patients With Late-Onset Pompe Disease. Completed NCT00158600 Phase 3 Placebo
18 A Phase 3 Open-label Extension Study to Assess the Long-term Safety and Efficacy of Intravenous ATB200 Co-administered With Oral AT2221 in Adult Subjects With Late Onset Pompe Disease Recruiting NCT04138277 Phase 3 AT2221
19 An Open-label Study of the Pharmacokinetics, Safety, Efficacy, and Pharmacodynamics of ATB200/AT2221 in Pediatric Subjects Aged 12 to < 18 Years With Late-onset Pompe Disease Recruiting NCT03911505 Phase 3 AT2221
20 A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of Avalglucosidase Alfa (neoGAA, GZ402666) and Alglucosidase Alfa in Treatment naïve Patients With Late-onset Pompe Disease Active, not recruiting NCT02782741 Phase 3 avalglucosidase alfa(GZ402666);alglucosidase alfa (GZ419829)
21 An Open-Label, Multicenter, Multinational Extension Study Of The Long-Term Safety And Pharmacokinetics Of Repeated Biweekly Infusions Of Avalglucosidase Alfa In Patients With Pompe Disease Active, not recruiting NCT02032524 Phase 2, Phase 3 GZ402666
22 A Phase 3 Double-blind Randomized Study to Assess the Efficacy and Safety of Intravenous ATB200 Co-administered With Oral AT2221 in Adult Subjects With Late Onset Pompe Disease Compared With Alglucosidase Alfa/Placebo Active, not recruiting NCT03729362 Phase 3 AT2221
23 A Phase 3 Switchover Study of the Efficacy and Safety of BMN 701 (GILT-tagged Recombinant Human GAA) and Long-Term Study for Extended Treatment in rhGAA Exposed Subjects With Late-onset Pompe Disease Terminated NCT01924845 Phase 3 BMN 701
24 Open-Label, Pilot Study of the Safety, Pharmacokinetics and Pharmacodynamics of Recombinant Human Acid Alpha-Glucosidase (rhGAA) as Enzyme Replacement Therapy in Siblings With Glycogen Storage Disease Type II (GSD-II). Completed NCT00051935 Phase 2 Alglucosidase alfa
25 An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old With Infantile-Onset GSD-II Completed NCT00053573 Phase 1, Phase 2
26 Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
27 An Open-Label Extension Study of the Long-Term Safety and Efficacy of Recombinant Human Acid α-Glucosidase (rhGAA) Given as Enyzme Replacement Therapy to a Single Patient With Pompe Disease (Glycogen Storage Disease Type II) Who Were Previously Enrolled in Genzyme-Sponsored Enzyme Replacement Therapy Studies Completed NCT00765414 Phase 2
28 A Multicenter, Open-Label Extension Study of the Long-Term Safety and Efficacy of Recombinant Human Acid α-Glucosidase (rhGAA) in Patients With Pompe Disease (Glycogen Storage Disease Type II) Who Were Previously Enrolled in Genzyme-Sponsored Enzyme Replacement Therapy Studies Completed NCT00763932 Phase 2
29 A Phase 1/2 Open-label Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic and Preliminary Efficacy of BMN 701 (GILT-tagged Recombinant Human GAA) in Patients With Late-onset Pompe Disease Completed NCT01230801 Phase 1, Phase 2
30 An Open-Label, Multi-Center, International Study to Investigate Drug-Drug Interactions Between AT2220 and Alglucosidase Alfa in Patients With Pompe Disease Completed NCT01380743 Phase 2 duvoglustat;rhGAA
31 Phase I/II Trial of Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV1-CMV-GAA) Gene Vector in Patients With Pompe Disease Completed NCT00976352 Phase 1, Phase 2 rAAV1-CMV-GAA (study agent) Administration
32 A Prospective Multinational, Multicenter, Clinical Trial of the Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase (rhGAA) in Cross-Reacting Immunologic Material-Positive Patients With Classical Infantile Pompe Disease Completed NCT00025896 Phase 2 recombinant human acid alpha-glucosidase (rhGAA)
33 A Phase 1/2 Double-Blind Study of the 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
34 A Clinical Investigation of the 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
35 A Phase 1 Study of the Safety of AAV2/8-LSPhGAA in Late-onset Pompe Disease Recruiting NCT03533673 Phase 1, Phase 2
36 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
37 A Clinical Investigation of the Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Amyotrophic Lateral Sclerosis Recruiting NCT04245709 Phase 2 Clenbuterol
38 An Open-label Ascending Dose Cohort Study to Assess the Safety, Pharmacokinetics, and Preliminary Efficacy of Avalglucosidase Alfa (NeoGAA, GZ402666) in Patients With Infantile-onset Pompe Disease Treated With Alglucosidase Alfa Who Demonstrate Clinical Decline or Sub-optimal Clinical Response Active, not recruiting NCT03019406 Phase 2 avalglucosidase alfa GZ402666;alglucosidase alfa GZ419829
39 An Open-Label, Fixed-Sequence, Ascending-Dose, First-in-Human Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of Intravenous Infusions of ATB200 Co-Administered With Oral AT2221 in Adult Subjects With Pompe Disease Active, not recruiting NCT02675465 Phase 1, Phase 2 ATB200;AT2221
40 Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease Stably Treated With Enzyme Replacement Therapy Not yet recruiting NCT04094948 Phase 2 Clenbuterol;Placebos
41 A Phase 1/2, Open-Label, Ascending-Dose Clinical Study to Evaluate the Safety and Preliminary Efficacy of AT845, an AAV8-Delivered Gene Transfer Therapy in Patients With Late Onset Pompe Disease Not yet recruiting NCT04174105 Phase 1, Phase 2
42 Phase 1/2, Dose-escalation Study to Evaluate the Safety, Tolerability and Efficacy of a Single Intravenous Infusion of SPK-3006 in Adults With Late-onset Pompe Disease Suspended NCT04093349 Phase 1, Phase 2
43 A Three-Month, Open-Label, Randomized, Dose-escalation Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of VAL-1221 Versus Myozyme®/Lumizyme® in Patients With Late-Onset GSD-II (Pompe Disease) Followed by Open-Label Treatment With VAL-1221 in All Patients Terminated NCT02898753 Phase 1, Phase 2 VAL-1221;RhGAA
44 A Long-Term Study for Extended BMN 701 Treatment of Patients With Pompe Disease Who Have Participated in a BMN 701 Study Terminated NCT01435772 Phase 2
45 A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Terminated NCT02191917 Phase 2
46 An Open-Label, Multicenter Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Three Dosing Regimens of Oral AT2220 in Patients With Pompe Disease Terminated NCT00688597 Phase 2 Duvoglustat
47 High Protein Nutrition and Exercise Therapy (HPET) Plus Nocturnal Enteral Feeding (NEF) in Juvenile-onset Pompe Disease. Withdrawn NCT01656590 Phase 2
48 A Clinical Investigation of the Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease, Whether or Not Receiving Enzyme Replacement Therapy Completed NCT01859624 Phase 1 Albuterol
49 An Open-label, Multicenter, Multinational, Ascending Dose Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of Repeated Biweekly Infusions of neoGAA in naïve and Alglucosidase Alfa Treated Late-onset Pompe Disease Patients. Completed NCT01898364 Phase 1 GZ402666
50 Evaluation of Re-administration of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV9-DES-hGAA) in Patients With Late-Onset Pompe Disease (LOPD) Recruiting NCT02240407 Phase 1 Rapamycin;Rituxan;Diphenhydramine;Acetaminophen;Lidocaine;LMX 4 Topical Cream

Search NIH Clinical Center for Glycogen Storage Disease Ii

Inferred drug relations via UMLS 71 / NDF-RT 50 :


ALGLUCOSIDASE
alglucosidase alfa

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:

40
Heart, Skeletal Muscle, Liver, Testes, Tongue, Lung, Brain

Publications for Glycogen Storage Disease Ii

Articles related to Glycogen Storage Disease Ii:

(show top 50) (show all 1473)
# Title Authors PMID Year
1
The African origin of the common mutation in African American patients with glycogen-storage disease type II. 6 56 24
9529346 1998
2
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. 6 56 54
7717400 1995
3
The emerging phenotype of long-term survivors with infantile Pompe disease. 56 24 61
22538254 2012
4
Neural deficits contribute to respiratory insufficiency in Pompe disease. 56 24 61
19474295 2009
5
Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. 61 56 24
17270480 2007
6
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. 54 24 56
16917947 2006
7
Identification of two subtypes of infantile acid maltase deficiency. 54 56 24
10931430 2000
8
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype. 56 6
8990003 1997
9
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. 24 56
12897283 2003
10
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. 56 24
11071489 2000
11
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. 56 24
10482961 1999
12
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. 24 56
9738873 1998
13
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail. 54 56 61
9466978 1998
14
Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. 24 6
7945303 1994
15
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. 61 56
21637107 2011
16
Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. 61 56
21543987 2011
17
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. 61 56
21502868 2011
18
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease. 61 56
20308911 2010
19
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. 61 54 24
20080426 2010
20
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease. 56 61
19959526 2010
21
Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease. 61 24 54
18661169 2008
22
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 61 54 24
18429042 2008
23
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. 61 24 54
17723315 2007
24
Sibling phenotype concordance in classical infantile Pompe disease. 56 61
17853454 2007
25
Pompe Disease 6 61
20301438 2007
26
Fractures in children with Pompe disease: a potential long-term complication. 24 54 61
17342521 2007
27
Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. 61 54 24
16702880 2006
28
Electrocardiographic response to enzyme replacement therapy for Pompe disease. 61 54 24
16702879 2006
29
Disease severity in children and adults with Pompe disease related to age and disease duration. 56 61
15985590 2005
30
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. 61 56
15668445 2005
31
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. 24 54 61
14695532 2004
32
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). 54 61 24
11949932 2002
33
Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy. 61 56
11590121 2001
34
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. 54 56
10545593 1999
35
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. 56 61
9384603 1998
36
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. 54 6
7881422 1994
37
Adult and infantile glycogenosis type II in one family, explained by allelic diversity. 54 56
2403755 1990
38
Juvenile acid maltase deficiency presenting as paravertebral pseudotumour. 61 56
3135192 1988
39
A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies. 61 56
6810200 1981
40
Biochemical, immunological, and cell genetic studies in glycogenosis type II. 61 56
350041 1978
41
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. 61 24
28196920 2017
42
Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity. 24 61
27453480 2017
43
Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy. 24 61
27655474 2016
44
Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. 61 24
26531313 2016
45
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening. 61 24
25681082 2015
46
Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. 61 24
25444528 2015
47
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). 6
25173338 2014
48
Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease. 61 24
24844452 2014
49
Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. 61 24
23997011 2013
50
B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease. 24 61
23601496 2013

Variations for Glycogen Storage Disease Ii

ClinVar genetic disease variations for Glycogen Storage Disease Ii:

6 (show top 50) (show all 810) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GAA NM_000152.5(GAA):c.271G>A (p.Asp91Asn)SNV Benign/Likely benign, other 4020 rs1800299 17:78078656-78078656 17:80104857-80104857
2 GAA NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)SNV Benign, other 4030 rs1800309 17:78087041-78087041 17:80113242-80113242
3 GAA NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)SNV Benign, other 92467 rs1800307 17:78085871-78085871 17:80112072-80112072
4 GAA NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)SNV Pathogenic 180142 rs730880022 17:78082137-78082137 17:80108338-80108338
5 GAA NM_000152.5(GAA):c.2078dup (p.Ala694fs)duplication Pathogenic 180143 rs730880372 17:78087053-78087054 17:80113254-80113255
6 GAA NM_000152.5(GAA):c.896T>C (p.Leu299Pro)SNV Pathogenic 180144 rs121907940 17:78081636-78081636 17:80107837-80107837
7 GAA NM_000152.5(GAA):c.1437G>A (p.Lys479=)SNV Pathogenic 188044 rs796051877 17:78083854-78083854 17:80110055-80110055
8 GAA NM_000152.5(GAA):c.925G>A (p.Gly309Arg)SNV Pathogenic 188797 rs543300039 17:78081665-78081665 17:80107866-80107866
9 GAA NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)SNV Pathogenic 188773 rs757111744 17:78086800-78086800 17:80113001-80113001
10 GAA NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)SNV Pathogenic 279811 rs779556619 17:78085800-78085800 17:80112001-80112001
11 GAA NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)SNV Pathogenic 280063 rs752921215 17:78090814-78090814 17:80117015-80117015
12 GAA NM_000152.5(GAA):c.546G>A (p.Thr182=)SNV Pathogenic 280955 rs143523371 17:78078931-78078931 17:80105132-80105132
13 GAA NM_000152.5(GAA):c.2483_2646+1deldeletion Pathogenic 4031 rs1555603048 17:78091992-78092156 17:80118193-80118357
14 GAA NM_000152.5(GAA):c.525del (p.Glu176fs)deletion Pathogenic 4033 rs386834235 17:78078910-78078910 17:80105111-80105111
15 GAA NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)SNV Pathogenic 4034 rs121907943 17:78092070-78092070 17:80118271-80118271
16 GAA NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)SNV Pathogenic 4023 rs28937909 17:78086713-78086713 17:80112914-80112914
17 GAA NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)SNV Pathogenic 4024 rs121907938 17:78087149-78087149 17:80113350-80113350
18 GAA NM_000152.5(GAA):c.-32-13T>GSNV Pathogenic 4027 rs386834236 17:78078341-78078341 17:80104542-80104542
19 GAA NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)SNV Pathogenic 4029 rs28940868 17:78086721-78086721 17:80112922-80112922
20 GAA NM_000152.5(GAA):c.877G>A (p.Gly293Arg)SNV Pathogenic 4036 rs121907945 17:78081617-78081617 17:80107818-80107818
21 GAA GAA, IVS1AS, G-C, -1SNV Pathogenic 4037
22 GAA NM_000152.5(GAA):c.307T>G (p.Cys103Gly)SNV Pathogenic 92483 rs398123174 17:78078692-78078692 17:80104893-80104893
23 GAA NM_000152.5(GAA):c.1755-1G>ASNV Pathogenic 849168 17:78086376-78086376 17:80112577-80112577
24 GAA NM_000152.5(GAA):c.1437+2T>CSNV Pathogenic 849313 17:78083856-78083856 17:80110057-80110057
25 GAA NM_000152.5(GAA):c.1464dup (p.Asp489fs)duplication Pathogenic 860774 17:78084548-78084549 17:80110749-80110750
26 GAA NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs)duplication Pathogenic 861183 17:78083762-78083763 17:80109963-80109964
27 GAA NM_000152.5(GAA):c.276C>A (p.Cys92Ter)SNV Pathogenic 654482 17:78078661-78078661 17:80104862-80104862
28 GAA NM_000152.5(GAA):c.1895T>G (p.Leu632Arg)SNV Pathogenic 637961 17:78086681-78086681 17:80112882-80112882
29 GAA NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs)insertion Pathogenic 637962 17:78082527-78082528 17:80108728-80108729
30 GAA NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)SNV Pathogenic 638014 17:78084626-78084626 17:80110827-80110827
31 GAA NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)SNV Pathogenic 657348 17:78082511-78082511 17:80108712-80108712
32 GAA NM_000152.5(GAA):c.806_830del (p.Leu269fs)deletion Pathogenic 656144 17:78081468-78081492 17:80107669-80107693
33 GAA NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)SNV Pathogenic 645572 17:78084773-78084773 17:80110974-80110974
34 GAA NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)SNV Pathogenic 694452 17:78082405-78082405 17:80108606-80108606
35 GAA NM_000152.5(GAA):c.1431del (p.Ile477fs)deletion Pathogenic 694453 17:78083847-78083847 17:80110048-80110048
36 GAA NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)SNV Pathogenic 649354 17:78091450-78091450 17:80117651-80117651
37 GAA NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)SNV Pathogenic 640911 17:78086420-78086420 17:80112621-80112621
38 GAA NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)SNV Pathogenic 663894 17:78086727-78086727 17:80112928-80112928
39 GAA NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)SNV Pathogenic 632823 rs1414146587 17:78086691-78086691 17:80112892-80112892
40 GAA NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del)deletion Pathogenic 810667 17:78086693-78086701 17:80112894-80112902
41 GAA NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)SNV Pathogenic 810666 17:78087050-78087050 17:80113251-80113251
42 GAA NC_000017.11:g.(?_80108677)_(80113386_?)deldeletion Pathogenic 831500 17:78082476-78087185
43 GAA NC_000017.11:g.(?_80109935)_(80113376_?)deldeletion Pathogenic 832072 17:78083734-78087175
44 GAA NM_000152.5(GAA):c.759del (p.Ser254fs)deletion Pathogenic 837937 17:78081420-78081420 17:80107621-80107621
45 GAA NM_000152.5(GAA):c.2481+110_2646+39deldeletion Pathogenic 657307 17:78091650-78092187 17:80117851-80118388
46 GAA NC_000017.11:g.(?_80118183)_(80118367_?)deldeletion Pathogenic 648526 17:78091982-78092166 17:80118183-80118367
47 GAA NM_000152.5(GAA):c.1377dup (p.Glu460fs)duplication Pathogenic 836467 17:78083793-78083794 17:80109994-80109995
48 GAA NM_000152.5(GAA):c.1650dup (p.Thr551fs)duplication Pathogenic 853124 17:78085789-78085790 17:80111990-80111991
49 GAA NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)deletion Pathogenic 854513 17:78087057-78087057 17:80113258-80113258
50 GAA NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)SNV Pathogenic 403712 rs755253527 17:78082294-78082294 17:80108495-80108495

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

73 (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

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:

36
# 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
Show member pathways
13.83 SI PYGM PRKAG2 MGAM IDUA GYS1
2
Show member pathways
12.35 PYGM GYS1 GYG1 GAA AGL
3
Show member pathways
12.31 SI PYGM MGAM IDUA GYS1 GYG1
4 11.76 M6PR LAMP2 IGF2R IDUA GAA
5
Show member pathways
11.69 PYGM PRKAG2 GYS1
6 11.66 PYGM PRKAG2 GYS1
7
Show member pathways
11.31 SI PYGM MGAM GYS1 GYG1 GANC
8 11.01 PYGM GYS1 GYG1 AGL
9 10.39 SI MGAM
10
Show member pathways
9.92 GYS1 GYG1

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 9.65 M6PR LAMP2 IGF2R IDUA GAA
2 lysosomal membrane GO:0005765 9.55 TFEB M6PR LAMP2 IGF2R GAA
3 sarcolemma GO:0042383 9.54 FKRP DMD CAV3
4 tertiary granule membrane GO:0070821 9.5 STBD1 MGAM GAA
5 inclusion body GO:0016234 9.43 GYS1 AGL
6 dystrophin-associated glycoprotein complex GO:0016010 9.4 DMD CAV3
7 lysosomal lumen GO:0043202 9.26 LAMP2 IDUA GYG1 GAA
8 ficolin-1-rich granule membrane GO:0101003 8.92 STBD1 MGAM LAMP2 GAA

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.92 STBD1 MGAM LAMP2 IGF2R GYG1 GAA
2 muscle cell cellular homeostasis GO:0046716 9.71 LAMP2 GAA DMD CAV3
3 carbohydrate metabolic process GO:0005975 9.7 STBD1 SI PYGM MGAM IDUA GANC
4 glycogen biosynthetic process GO:0005978 9.61 GYS1 GYG1 AGL
5 glycogen catabolic process GO:0005980 9.56 STBD1 PYGM GAA AGL
6 metabolic process GO:0008152 9.56 SI PYGM MGAM IDUA GYS1 GANC
7 maltose metabolic process GO:0000023 9.54 MGAM GANC GAA
8 lysosomal transport GO:0007041 9.51 M6PR IGF2R
9 nucleus localization GO:0051647 9.49 DMD CAV3
10 polysaccharide digestion GO:0044245 9.48 SI MGAM
11 regulation of skeletal muscle contraction GO:0014819 9.46 DMD CAV3
12 glycogen metabolic process GO:0005977 9.1 STBD1 PYGM PRKAG2 GYS1 GAA AGL

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.08 SI MGAM IDUA GANC GAA DNASE1L1
2 catalytic activity GO:0003824 9.95 SI PYGM MGAM GYS1 GANC GAA
3 carbohydrate binding GO:0030246 9.85 STBD1 SI MGAM GANC GAA AGL
4 enzyme binding GO:0019899 9.83 TFEB STBD1 LAMP2 IGF2R CAV3
5 transferase activity, transferring glycosyl groups GO:0016757 9.81 PYGM GYS1 GYG1 AGL
6 nitric-oxide synthase binding GO:0050998 9.54 DMD CAV3
7 polysaccharide binding GO:0030247 9.52 STBD1 AGL
8 alpha-glucosidase activity GO:0090599 9.5 MGAM GANC GAA
9 dystroglycan binding GO:0002162 9.49 FKRP DMD
10 retromer complex binding GO:1905394 9.46 M6PR IGF2R
11 maltose alpha-glucosidase activity GO:0032450 9.43 MGAM GANC GAA
12 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.35 SI MGAM IDUA GANC GAA
13 alpha-1,4-glucosidase activity GO:0004558 9.33 MGAM GANC GAA
14 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 SI MGAM IDUA GANC GAA AGL

Sources for Glycogen Storage Disease Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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