GSD2
MCID: GLY008
MIFTS: 72

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 57 12 72 13 15
Glycogen Storage Disease Type Ii 12 73 25 43 58 36 44 70
Pompe Disease 57 25 20 43 53 58 72 54
Acid Maltase Deficiency 57 12 73 25 43 53 72
Gsd Ii 57 25 20 43 72
Alpha-1,4-Glucosidase Deficiency 57 20 43 72
Glycogenosis Type Ii 73 25 43 58
Gaa Deficiency 57 25 43 72
Amd 57 43 72 6
Acid Alpha-Glucosidase Deficiency 57 25 72
Glycogen Storage Disease, Type Ii 12 29 6
Pompe's Disease 12 73 43
Gsd2 57 43 72
Cardiomegalia Glycogenica Diffusa 57 20
Glycogen Storage Disease Type 2 20 58
Acid Maltase Deficiency Disease 20 43
Deficiency of Alpha-Glucosidase 20 43
Glycogen Storage Disease Due to Acid Maltase Deficiency 58
Generalized Glycogen Storage Disease of Infants 70
Glycogenosis Due to Acid Maltase Deficiency 58
Lysosomal Alpha-1,4-Glucosidase Deficiency 12
Deficiency of Lysosomal Alpha-Glucosidase 20
Cardiac Form of Generalized Glycogenosis 70
Glycogenosis, Generalized, Cardiac Form 57
Alpha-1,4-Glucosidase Acid Deficiency 58
Glycogenosis Generalized Cardiac Form 72
Gsd Due to Acid Maltase Deficiency 58
Storage Disease, Glycogen, Type Ii 39
Acid Maltase Deficiency; Amd 57
Deficiency of Glucoamylase 12
Glycogen Storage Disease 2 72
Cardiomegalia Glycogenica 72
Generalized Glycogenosis 12
Deficiency of Maltase 12
Glycogenosis, Type 2 12
Glycogenosis Type 2 58
Aglucosidase Alfa 20
Glycogenosis Ii 72
Gsd Type Ii 58
Gsd Type 2 58
Gsd-Ii 72

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®:

57 (Updated 05-Apr-2021)
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 danon disease and fabry disease, and has symptoms including dyspnea and weakness. An important gene associated with Glycogen Storage Disease Ii is GAA (Alpha Glucosidase), and among its related pathways/superpathways are Galactose metabolism and Lysosome. The drugs Bortezomib and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and tongue, and related phenotypes are oligosacchariduria and progressive proximal muscle weakness

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.

MedlinePlus Genetics : 43 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.

GARD : 20 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® : 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 516)
# Related Disease Score Top Affiliating Genes
1 danon disease 32.0 TFEB SI PRKAG2 LAMP2 GAA
2 fabry disease 30.7 PRKAG2 M6PR LAMP2
3 lysosomal glycogen storage disease 30.5 LAMP2 GAA
4 atrial standstill 1 30.4 PRKAG2 LAMP2 GAA FKRP DMD
5 inherited metabolic disorder 30.3 SI MGAM IDUA
6 glycogen storage disease v 30.1 PYGM GYS1 GAA
7 rigid spine muscular dystrophy 1 30.1 GAA FKRP DMD CAPN3
8 batten-turner congenital myopathy 30.1 PYGM GAA DMD
9 limb-girdle muscular dystrophy 30.0 FKRP CAV3 CAPN3
10 glycogen storage disease ia 30.0 GYS1 GYG1 GAA
11 krabbe disease 29.9 SI MGAM M6PR IDUA
12 gaucher's disease 29.8 TFEB M6PR LAMP2 IDUA
13 mucopolysaccharidosis-plus syndrome 29.7 TFEB SI MGAM M6PR LAMP2 IGF2R
14 glycogen storage disease 29.5 PYGM PRKAG2 MGAM LAMP2 GYS1 GYG1
15 neuromuscular disease 29.4 GAA FKRP DMD CAV3 CAPN3
16 muscular disease 29.2 FKRP DMD CAV3 CAPN3
17 facioscapulohumeral muscular dystrophy 1 29.2 FKRP DMD CAV3 CAPN3
18 walker-warburg syndrome 29.2 FKRP DMD CAV3 CAPN3
19 muscular dystrophy 28.6 GAA FKRP DMD CAV3 CAPN3 ANO5
20 dilated cardiomyopathy 28.4 PRKAG2 LAMP2 GAA FKRP DMD ANO5
21 isolated elevated serum creatine phosphokinase levels 27.9 PYGM GYG1 GAA FKRP DMD CAV3
22 myopathy 27.4 PYGM LAMP2 GYS1 GYG1 GAA FKRP
23 macular degeneration, age-related, 1 11.8
24 neurological manifestations of pompe disease 11.7
25 reducing body myopathy 11.2
26 glycogen storage disease ixa1 11.2
27 glycogen storage disease due to acid maltase deficiency, late-onset 11.1
28 glycogen storage disease due to acid maltase deficiency, infantile onset 11.1
29 wolff-parkinson-white syndrome 11.0
30 stargardt disease 1 10.9
31 adrenomyodystrophy 10.9
32 langerhans cell histiocytosis 10.9
33 hereditary late-onset parkinson disease 10.9
34 kuhnt-junius degeneration 10.8
35 autosomal recessive disease 10.8
36 yemenite deaf-blind hypopigmentation syndrome 10.7
37 hypotonia 10.7
38 microvascular complications of diabetes 5 10.5
39 eye disease 10.4
40 muscular atrophy 10.4
41 phosphatase, acid, of tissues 10.4 LAMP2 GAA
42 ptosis 10.3
43 retinal degeneration 10.3
44 dysphagia 10.3
45 retinal disease 10.3
46 pneumatosis cystoides intestinalis 10.3 SI MGAM
47 barre-lieou syndrome 10.3 SI MGAM
48 hirata disease 10.3 SI MGAM
49 myoglobinuria, recurrent 10.3 PYGM DMD
50 miliaria 10.3 SI MGAM

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 top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oligosacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0010471
2 progressive proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009073
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
5 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
6 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
7 cardiomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001640
8 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
9 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
10 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
11 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
12 left ventricular hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001712
13 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
14 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
15 respiratory tract infection 58 31 frequent (33%) Frequent (79-30%) HP:0011947
16 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
17 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
18 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
19 gowers sign 58 31 frequent (33%) Frequent (79-30%) HP:0003391
20 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
21 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
22 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
23 glycogen accumulation in muscle fiber lysosomes 58 31 frequent (33%) Frequent (79-30%) HP:0030231
24 elevated serum alanine aminotransferase 58 31 frequent (33%) Frequent (79-30%) HP:0031964
25 increased lactate dehydrogenase level 31 frequent (33%) HP:0025435
26 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
27 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
28 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
29 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
30 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
31 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
32 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
33 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
34 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
35 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
36 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
37 transient ischemic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0002326
38 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
39 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
40 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
41 generalized muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003324
42 fatigable weakness of swallowing muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030195
43 impaired mastication 58 31 occasional (7.5%) Occasional (29-5%) HP:0005216
44 diaphragmatic weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009113
45 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
46 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
47 facial hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000297
48 dilatation of the cerebral artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004944
49 fatigable weakness of respiratory muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030196
50 left ventricular outflow tract obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0032092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
macroglossia

Abdomen Liver:
hepatomegaly

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)

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

Respiratory:
dyspnea
respiratory failure due to muscle weakness
respiratory infections

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 (Updated 05-Apr-2021)

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 GR00055-A-1 9.75 CAPN3 PIK3CA
2 Decreased viability GR00055-A-2 9.75 CAPN3 PIK3CA
3 Decreased viability GR00055-A-3 9.75 CAPN3
4 Decreased viability GR00221-A-1 9.75 PIK3CA PRKAG2
5 Decreased viability GR00221-A-2 9.75 PIK3CA PRKAG2
6 Decreased viability GR00221-A-4 9.75 PIK3CA
7 Decreased viability GR00249-S 9.75 IDUA IGF2R MGAM PYGM TFEB
8 Decreased viability GR00381-A-1 9.75 FKRP IDUA
9 Decreased viability GR00386-A-1 9.75 GYS1 M6PR MGAM SI STBD1
10 Decreased viability GR00402-S-2 9.75 DMD IDUA LAMP2 PIK3CA STBD1

MGI Mouse Phenotypes related to Glycogen Storage Disease Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 ANO5 CAPN3 CAV3 DMD FKRP GAA
2 behavior/neurological MP:0005386 10.28 ANO5 DMD FKRP GAA GYG1 GYS1
3 growth/size/body region MP:0005378 10.2 ANO5 CAPN3 CAV3 DMD FKRP GAA
4 homeostasis/metabolism MP:0005376 10.16 ANO5 CAPN3 CAV3 DMD FKRP GAA
5 cellular MP:0005384 10.15 ANO5 CAV3 DMD FKRP GAA GYG1
6 muscle MP:0005369 9.77 ANO5 CAPN3 CAV3 DMD FKRP GAA
7 liver/biliary system MP:0005370 9.7 DMD FKRP GYS1 IDUA IGF2R LAMP2
8 skeleton MP:0005390 9.36 ANO5 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 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bortezomib Approved, Investigational Phase 4 179324-69-7 93860 387447
2
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
3
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 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 Immunologic Factors Phase 4
8 Folic Acid Antagonists Phase 4
9 Vitamin B9 Phase 4
10 Antineoplastic Agents, Immunological Phase 4
11 Antirheumatic Agents Phase 4
12 Immunosuppressive Agents Phase 4
13 Dermatologic Agents Phase 4
14 Vitamin B Complex Phase 4
15 Folate Phase 4
16 Antimetabolites Phase 4
17 Neurotransmitter Agents Phase 4
18 Adrenergic beta-Agonists Phase 4
19 Anti-Asthmatic Agents Phase 4
20 Adrenergic Agonists Phase 4
21 Respiratory System Agents Phase 4
22 Albuterol Phase 4
23 Adrenergic Agents Phase 4
24 Tocolytic Agents Phase 4
25 Bronchodilator Agents Phase 4
26 Immunoglobulins Phase 4
27 Antibodies Phase 4
28
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
29
Clenbuterol Approved, Investigational, Vet_approved Phase 2 37148-27-9 2783
30
Coal tar Approved Phase 2 8007-45-2
31
1-Deoxynojirimycin Investigational Phase 2 19130-96-2 1374
32 Sympathomimetics Phase 2
33
Sirolimus Approved, Investigational Phase 1 53123-88-9 6436030 5284616
34
Acetaminophen Approved Phase 1 103-90-2 1983
35
Histamine Approved, Investigational Phase 1 51-45-6, 75614-87-8 774
36
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
37
tannic acid Approved Phase 1 1401-55-4
38
Promethazine Approved, Investigational Phase 1 60-87-7 4927
39
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
40
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
41
Diphenhydramine Approved, Investigational Phase 1 58-73-1, 147-24-0 3100
42
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
43
Miglustat Approved Phase 1 72599-27-0 51634
44 Immunoglobulins, Intravenous Phase 1
45 gamma-Globulins Phase 1
46 Rho(D) Immune Globulin Phase 1
47 Gastrointestinal Agents Phase 1
48 Anesthetics Phase 1
49 Anti-Arrhythmia Agents Phase 1
50 Antibiotics, Antitubercular Phase 1

Interventional clinical trials:

(show top 50) (show all 116)
# Name Status NCT ID Phase Drugs
1 Immune Modulation Therapy for ERT-naïve or ERT-treated Pompe Disease Patients Unknown status NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
2 Efficacy of Continuous Positive Airway Pressure of Treatment of Hypernasality of Children With Infantile Pompe Disease Unknown status NCT02405624 Phase 4
3 An Open-Label Extension Study of Patients With Late-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU02704 Completed NCT00455195 Phase 4
4 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
5 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
6 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
7 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4 Salbutamol
8 A Phase 3/4 Prospective Study to Characterize the Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Completed NCT01410890 Phase 4
9 A Single Arm, Prospective, Open-label, Multi-center Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatment Recruiting NCT04676373 Phase 4 ALGLUCOSIDASE ALFA
10 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)
11 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
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 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
15 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
16 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
17 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
18 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
19 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 Completed NCT03729362 Phase 3 AT2221
20 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
21 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)
22 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
23 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 Active, not recruiting NCT04138277 Phase 3 AT2221
24 An Open-label Study to Evaluate the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Both ERT-experienced and ERT-naïve Pediatric Subjects With Infantile-onset Pompe Disease Aged 0 to < 18 Years Not yet recruiting NCT04808505 Phase 3 Miglustat (AT2221)
25 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
26 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
27 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
28 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
29 Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
30 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
31 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)
32 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
33 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
34 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
35 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
36 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
37 A Clinical Investigation of the Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Amyotrophic Lateral Sclerosis Completed NCT04245709 Phase 2 Clenbuterol
38 A Phase 1 Study of the Safety of AAV2/8-LSPhGAA in Late-onset Pompe Disease Recruiting NCT03533673 Phase 1, Phase 2
39 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 Recruiting NCT04174105 Phase 1, Phase 2
40 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 Recruiting NCT04093349 Phase 1, Phase 2
41 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
42 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
43 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
44 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
45 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
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 A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Terminated NCT02191917 Phase 2
48 High Protein Nutrition and Exercise Therapy (HPET) Plus Nocturnal Enteral Feeding (NEF) in Juvenile-onset Pompe Disease. Withdrawn NCT01656590 Phase 2
49 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
50 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

Search NIH Clinical Center for Glycogen Storage Disease Ii

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Tongue, Liver, Brain, Skin, Bone

Publications for Glycogen Storage Disease Ii

Articles related to Glycogen Storage Disease Ii:

(show top 50) (show all 1661)
# Title Authors PMID Year
1
The emerging phenotype of long-term survivors with infantile Pompe disease. 57 25 6 61
22538254 2012
2
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. 54 6 57 25
16917947 2006
3
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. 57 25 6
12897283 2003
4
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. 6 57 25
11071489 2000
5
The African origin of the common mutation in African American patients with glycogen-storage disease type II. 57 6 25
9529346 1998
6
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. 61 6 57
21637107 2011
7
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease. 57 61 6
20308911 2010
8
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. 6 25 54 61
20080426 2010
9
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 6 25 54 61
18429042 2008
10
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. 6 25 54 61
17723315 2007
11
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. 6 61 57
15668445 2005
12
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. 25 54 6 61
14695532 2004
13
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). 25 6 54 61
11949932 2002
14
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. 54 57 6
7717400 1995
15
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. 25 61 6
28196920 2017
16
Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease. 6 61 25
24844452 2014
17
B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease. 61 6 25
23601496 2013
18
Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element. 25 6 61
23402890 2013
19
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. 25 6 61
22252923 2012
20
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. 25 6 61
22237443 2012
21
First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. 61 25 6
21967859 2011
22
Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. 6 25 61
21605996 2011
23
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. 61 6 25
20559845 2010
24
Acute progression of neuromuscular findings in infantile Pompe disease. 6 61 25
20472203 2010
25
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. 25 6 61
19775921 2010
26
Pompe disease in infants: improving the prognosis by newborn screening and early treatment. 6 25 61
19948615 2009
27
Neural deficits contribute to respiratory insufficiency in Pompe disease. 61 57 25
19474295 2009
28
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. 25 6 61
18505979 2008
29
Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. 25 61 57
17270480 2007
30
Pompe disease diagnosis and management guideline. 6 61 25
16702877 2006
31
Two clinical forms of glycogen-storage disease type II in two generations of the same family. 6 57
16433701 2006
32
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene. 57 6
12601120 2003
33
Identification of two subtypes of infantile acid maltase deficiency. 54 57 25
10931430 2000
34
Molecular genetic study of Pompe disease in Chinese patients in Taiwan. 25 6 61
10338092 1999
35
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype. 6 57
8990003 1997
36
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. 6 57
8558570 1995
37
Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male. 6 57
1895140 1991
38
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. 6 25
21179066 2011
39
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. 6 61 54
20033296 2010
40
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. 54 6 61
19862843 2009
41
A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy. 54 6 61
19472353 2009
42
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. 61 54 6
19046416 2008
43
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 6 61 54
18425781 2008
44
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. 6 61 54
17213836 2007
45
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. 6 61 54
17151339 2007
46
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. 6 54 61
17210890 2007
47
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. 61 6 54
16860134 2006
48
New GAA mutations in Japanese patients with GSDII (Pompe disease). 54 6 61
14643388 2003
49
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. 25 57
10482961 1999
50
Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations. 6 25
9950376 1999

Variations for Glycogen Storage Disease Ii

ClinVar genetic disease variations for Glycogen Storage Disease Ii:

6 (show top 50) (show all 1049)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GAA NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) SNV Benign, other 92467 rs1800307 GRCh37: 17:78085871-78085871
GRCh38: 17:80112072-80112072
2 GAA NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) SNV Benign, other 4030 rs1800309 GRCh37: 17:78087041-78087041
GRCh38: 17:80113242-80113242
3 GAA NM_000152.5(GAA):c.271G>A (p.Asp91Asn) SNV Benign/Likely benign, other 4020 rs1800299 GRCh37: 17:78078656-78078656
GRCh38: 17:80104857-80104857
4 GAA NM_000152.5(GAA):c.2105G>A (p.Arg702His) SNV Pathogenic 426278 rs398123172 GRCh37: 17:78087081-78087081
GRCh38: 17:80113282-80113282
5 GAA NM_000152.5(GAA):c.692+5G>T SNV Pathogenic 526532 rs763027848 GRCh37: 17:78079698-78079698
GRCh38: 17:80105899-80105899
6 GAA NM_000152.5(GAA):c.877G>A (p.Gly293Arg) SNV Pathogenic 4036 rs121907945 GRCh37: 17:78081617-78081617
GRCh38: 17:80107818-80107818
7 GAA NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) SNV Pathogenic 495664 rs991082382 GRCh37: 17:78085880-78085880
GRCh38: 17:80112081-80112081
8 GAA NM_000152.5(GAA):c.118C>T (p.Arg40Ter) SNV Pathogenic 426593 rs767409395 GRCh37: 17:78078503-78078503
GRCh38: 17:80104704-80104704
9 GAA NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) SNV Pathogenic 167113 rs369531647 GRCh37: 17:78086463-78086463
GRCh38: 17:80112664-80112664
10 GAA NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) SNV Pathogenic 429727 rs200483245 GRCh37: 17:78090846-78090846
GRCh38: 17:80117047-80117047
11 GAA NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) SNV Pathogenic 284093 rs766074609 GRCh37: 17:78082197-78082197
GRCh38: 17:80108398-80108398
12 GAA NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) SNV Pathogenic 4023 rs28937909 GRCh37: 17:78086713-78086713
GRCh38: 17:80112914-80112914
13 GAA NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) SNV Pathogenic 370223 rs1057516328 GRCh37: 17:78090791-78090791
GRCh38: 17:80116992-80116992
14 GAA NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) SNV Pathogenic 370904 rs1800312 GRCh37: 17:78090815-78090815
GRCh38: 17:80117016-80117016
15 GAA NM_000152.5(GAA):c.2242dup (p.Glu748fs) Duplication Pathogenic 370651 rs777275355 GRCh37: 17:78090813-78090814
GRCh38: 17:80117014-80117015
16 GAA NM_000152.5(GAA):c.1143del (p.Ala382fs) Deletion Pathogenic 370263 rs757458607 GRCh37: 17:78082354-78082354
GRCh38: 17:80108555-80108555
17 GAA NM_000152.5(GAA):c.2331+2T>A SNV Pathogenic 371281 rs1057517148 GRCh37: 17:78090910-78090910
GRCh38: 17:80117111-80117111
18 GAA NM_000152.5(GAA):c.2815_2816del (p.Val939fs) Microsatellite Pathogenic 371481 rs763359208 GRCh37: 17:78093083-78093084
GRCh38: 17:80119284-80119285
19 GAA NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) SNV Pathogenic 403712 rs755253527 GRCh37: 17:78082294-78082294
GRCh38: 17:80108495-80108495
20 GAA NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) SNV Pathogenic 280063 rs752921215 GRCh37: 17:78090814-78090814
GRCh38: 17:80117015-80117015
21 GAA NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) SNV Pathogenic 370276 rs376229714 GRCh37: 17:78079574-78079574
GRCh38: 17:80105775-80105775
22 GAA NM_000152.5(GAA):c.1437+1G>A SNV Pathogenic 555864 rs1555600575 GRCh37: 17:78083855-78083855
GRCh38: 17:80110056-80110056
23 GAA NM_000152.5(GAA):c.1551+1G>T SNV Pathogenic 555986 rs770780848 GRCh37: 17:78084640-78084640
GRCh38: 17:80110841-80110841
24 GAA NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) SNV Pathogenic 556959 rs766680292 GRCh37: 17:78084584-78084584
GRCh38: 17:80110785-80110785
25 GAA NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) SNV Pathogenic 561160 rs752921215 GRCh37: 17:78090814-78090814
GRCh38: 17:80117015-80117015
26 GAA NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) SNV Pathogenic 632823 rs1414146587 GRCh37: 17:78086691-78086691
GRCh38: 17:80112892-80112892
27 GAA NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) SNV Pathogenic 92472 rs398123172 GRCh37: 17:78087081-78087081
GRCh38: 17:80113282-80113282
28 GAA NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) SNV Pathogenic 640911 rs764670084 GRCh37: 17:78086420-78086420
GRCh38: 17:80112621-80112621
29 GAA NM_000152.5(GAA):c.307T>G (p.Cys103Gly) SNV Pathogenic 92483 rs398123174 GRCh37: 17:78078692-78078692
GRCh38: 17:80104893-80104893
30 GAA NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) SNV Pathogenic 657348 rs141533320 GRCh37: 17:78082511-78082511
GRCh38: 17:80108712-80108712
31 GAA NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) SNV Pathogenic 578595 rs765718882 GRCh37: 17:78092467-78092467
GRCh38: 17:80118668-80118668
32 GAA NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) SNV Pathogenic 279811 rs779556619 GRCh37: 17:78085800-78085800
GRCh38: 17:80112001-80112001
33 GAA NM_000152.5(GAA):c.546G>A (p.Thr182=) SNV Pathogenic 280955 rs143523371 GRCh37: 17:78078931-78078931
GRCh38: 17:80105132-80105132
34 GAA NM_000152.5(GAA):c.1799G>A (p.Arg600His) SNV Pathogenic 370130 rs377544304 GRCh37: 17:78086421-78086421
GRCh38: 17:80112622-80112622
35 GAA NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) Microsatellite Pathogenic 286229 rs886043343 GRCh37: 17:78092009-78092010
GRCh38: 17:80118210-80118211
36 GAA NM_000152.5(GAA):c.258dup (p.Asn87fs) Duplication Pathogenic 282842 rs761317813 GRCh37: 17:78078636-78078637
GRCh38: 17:80104837-80104838
37 GAA NM_000152.5(GAA):c.525del (p.Glu176fs) Deletion Pathogenic 4033 rs386834235 GRCh37: 17:78078910-78078910
GRCh38: 17:80105111-80105111
38 GAA NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) SNV Pathogenic 4034 rs121907943 GRCh37: 17:78092070-78092070
GRCh38: 17:80118271-80118271
39 GAA NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) SNV Pathogenic 4029 rs28940868 GRCh37: 17:78086721-78086721
GRCh38: 17:80112922-80112922
40 GAA NM_000152.5(GAA):c.-32-13T>G SNV Pathogenic 4027 rs386834236 GRCh37: 17:78078341-78078341
GRCh38: 17:80104542-80104542
41 GAA NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) SNV Pathogenic 188728 rs368438393 GRCh37: 17:78086719-78086719
GRCh38: 17:80112920-80112920
42 GAA NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) SNV Pathogenic 4024 rs121907938 GRCh37: 17:78087149-78087149
GRCh38: 17:80113350-80113350
43 GAA NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) SNV Pathogenic 188773 rs757111744 GRCh37: 17:78086800-78086800
GRCh38: 17:80113001-80113001
44 GAA NM_000152.5(GAA):c.1051del (p.Val351fs) Deletion Pathogenic 188841 rs786204507 GRCh37: 17:78082183-78082183
GRCh38: 17:80108384-80108384
45 GAA NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) Deletion Pathogenic 188874 rs770276275 GRCh37: 17:78083828-78083831
GRCh38: 17:80110029-80110032
46 GAA NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) SNV Pathogenic 188902 rs536906561 GRCh37: 17:78086728-78086728
GRCh38: 17:80112929-80112929
47 GAA NM_000152.5(GAA):c.2140del (p.His714fs) Deletion Pathogenic 188904 rs786204549 GRCh37: 17:78087115-78087115
GRCh38: 17:80113316-80113316
48 GAA NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) Deletion Pathogenic 188936 rs781088002 GRCh37: 17:78086449-78086449
GRCh38: 17:80112650-80112650
49 GAA NM_000152.5(GAA):c.925G>A (p.Gly309Arg) SNV Pathogenic 188797 rs543300039 GRCh37: 17:78081665-78081665
GRCh38: 17:80107866-80107866
50 GAA NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) SNV Pathogenic 189009 rs780321415 GRCh37: 17:78092118-78092118
GRCh38: 17:80118319-80118319

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

72 (show top 50) (show all 131)
# 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.Trp746Cys VAR_004311 rs1800312
22 GAA p.Pro768Arg VAR_004312
23 GAA p.Val949Asp VAR_004318 rs124541210
24 GAA p.Arg600His VAR_008689 rs377544304
25 GAA p.Gly615Arg VAR_008690 rs549029029
26 GAA p.Cys103Gly VAR_018078 rs398123174
27 GAA p.Gly219Arg VAR_018079 rs370950728
28 GAA p.Pro285Arg VAR_018080 rs764622267
29 GAA p.Tyr292Cys VAR_018081 rs105751660
30 GAA p.Gly293Arg VAR_018082 rs121907945
31 GAA p.His308Pro VAR_018083
32 GAA p.Gly309Arg VAR_018084 rs543300039
33 GAA p.Leu312Arg VAR_018085
34 GAA p.Leu355Pro VAR_018086 rs766074609
35 GAA p.Cys374Arg VAR_018087
36 GAA p.Leu405Pro VAR_018088
37 GAA p.Tyr455Phe VAR_018089
38 GAA p.Gly549Arg VAR_018091
39 GAA p.Leu552Pro VAR_018092 rs779556619
40 GAA p.Tyr575Ser VAR_018093
41 GAA p.Glu579Lys VAR_018094 rs991082382
42 GAA p.Arg600Cys VAR_018095 rs764670084
43 GAA p.Gly607Asp VAR_018096 rs139338612
44 GAA p.Ala880Asp VAR_018097
45 GAA p.Leu208Pro VAR_029025
46 GAA p.Arg224Trp VAR_029026 rs757700700
47 GAA p.Ala237Val VAR_029027 rs121907944
48 GAA p.Glu262Lys VAR_029028 rs201896815
49 GAA p.Pro324Leu VAR_029029 rs750030887
50 GAA p.Trp330Gly VAR_029030

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 SI PYGM PRKAG2 PIK3CA MGAM IDUA
2
Show member pathways
12.45 SI PYGM MGAM IDUA GYS1 GYG1
3
Show member pathways
12.26 PRKAG2 PIK3CA GYS1 GYG1
4 11.66 PYGM PRKAG2 GYS1
5
Show member pathways
11.6 PYGM PRKAG2 PIK3CA GYS1
6 11.46 M6PR LAMP2 IGF2R IDUA GAA
7 11.25 SI PIK3CA MGAM
8
Show member pathways
11.25 SI PYGM MGAM GYS1 GYG1 GANC
9 11.05 PYGM GYS1 GYG1
10 10.39 SI MGAM
11
Show member pathways
9.97 GYS1 GYG1

GO Terms for Glycogen Storage Disease Ii

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 TFEB STBD1 SI PRKAG2 PIK3CA MGAM
2 plasma membrane GO:0005886 10.18 STBD1 SI PIK3CA MGAM M6PR LAMP2
3 lysosomal membrane GO:0005765 9.8 TFEB M6PR LAMP2 GAA
4 perinuclear region of cytoplasm GO:0048471 9.73 STBD1 PIK3CA M6PR LAMP2 IGF2R DMD
5 lysosome GO:0005764 9.72 TFEB M6PR LAMP2 IDUA GAA
6 Z disc GO:0030018 9.69 DMD CAV3 CAPN3
7 sarcolemma GO:0042383 9.65 FKRP DMD CAV3
8 tertiary granule membrane GO:0070821 9.61 STBD1 MGAM GAA
9 dystrophin-associated glycoprotein complex GO:0016010 9.46 DMD CAV3
10 T-tubule GO:0030315 9.33 STBD1 CAV3 CAPN3
11 lysosomal lumen GO:0043202 9.26 LAMP2 IDUA GYG1 GAA
12 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 14)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.88 STBD1 MGAM LAMP2 IGF2R GYG1 GAA
2 metabolic process GO:0008152 9.7 SI PYGM MGAM IDUA GYS1 GANC
3 muscle organ development GO:0007517 9.69 DMD CAV3 CAPN3
4 glycogen metabolic process GO:0005977 9.65 STBD1 PYGM PRKAG2 GYS1 GAA
5 cardiac muscle contraction GO:0060048 9.63 PIK3CA GAA DMD
6 carbohydrate metabolic process GO:0005975 9.56 STBD1 SI PYGM MGAM IDUA GANC
7 lysosomal transport GO:0007041 9.54 M6PR IGF2R
8 glycogen catabolic process GO:0005980 9.54 STBD1 PYGM GAA
9 response to muscle stretch GO:0035994 9.52 PIK3CA DMD
10 maltose metabolic process GO:0000023 9.5 MGAM GANC GAA
11 nucleus localization GO:0051647 9.49 DMD CAV3
12 polysaccharide digestion GO:0044245 9.48 SI MGAM
13 regulation of skeletal muscle contraction GO:0014819 9.43 DMD CAV3
14 muscle cell cellular homeostasis GO:0046716 9.02 LAMP2 GAA DMD CAV3 CAPN3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.91 SI PYGM MGAM GYS1 GANC GAA
2 enzyme binding GO:0019899 9.83 TFEB STBD1 LAMP2 IGF2R CAV3
3 carbohydrate binding GO:0030246 9.8 STBD1 SI MGAM GANC GAA
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.65 SI MGAM IDUA GANC GAA
5 alpha-glucosidase activity GO:0090599 9.5 MGAM GANC GAA
6 nitric-oxide synthase binding GO:0050998 9.49 DMD CAV3
7 dystroglycan binding GO:0002162 9.48 FKRP DMD
8 retromer complex binding GO:1905394 9.46 M6PR IGF2R
9 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.35 SI MGAM IDUA GANC GAA
10 maltose alpha-glucosidase activity GO:0032450 9.33 MGAM GANC GAA
11 alpha-1,4-glucosidase activity GO:0004558 8.92 SI MGAM GANC GAA

Sources for Glycogen Storage Disease Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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