GSD2
MCID: GLY008
MIFTS: 59

Glycogen Storage Disease Ii (GSD2) malady

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

Aliases & Classifications for Glycogen Storage Disease Ii

Aliases & Descriptions for Glycogen Storage Disease Ii:

Name: Glycogen Storage Disease Ii 54 12 66 13 14
Glycogen Storage Disease Type Ii 12 23 24 25 56 42 69
Pompe Disease 23 50 25 51 56 66 52
Acid Maltase Deficiency 12 23 24 25 51 66
Gsd Ii 23 50 24 25 66
Glycogenosis Type Ii 23 24 25 56
Gaa Deficiency 23 24 25 66
Acid Alpha-Glucosidase Deficiency 23 24 66
Alpha-1,4-Glucosidase Deficiency 50 25 66
Glycogen Storage Disease Type 2 50 56
Acid Maltase Deficiency Disease 50 25
Deficiency of Alpha-Glucosidase 50 25
Glycogen Storage Disease 2 66 29
Pompe's Disease 12 25
Gsd2 25 66
Amd 25 66
Glycogen Storage Disease Due to Acid Maltase Deficiency 56
Generalized Glycogen Storage Disease of Infants 69
Glycogenosis Due to Acid Maltase Deficiency 56
Lysosomal Alpha-1,4-Glucosidase Deficiency 12
Deficiency of Lysosomal Alpha-Glucosidase 50
Cardiac Form of Generalized Glycogenosis 69
Alpha-1,4-Glucosidase Acid Deficiency 56
Glycogenosis Generalized Cardiac Form 66
Gsd Due to Acid Maltase Deficiency 56
Glycogen Storage Disease, Type Ii 12
Cardiomegalia Glycogenica Diffusa 50
Deficiency of Glucoamylase 12
Cardiomegalia Glycogenica 66
Generalized Glycogenosis 12
Glucosidase, Acid Alpha- 13
Deficiency of Maltase 12
Glycogenosis, Type 2 12
Glycogenosis Type 2 56
Aglucosidase Alfa 50
Glycogenosis Ii 66
Gsd Type Ii 56
Gsd Type 2 56
Gsd-Ii 66
Gsdii 24

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
glycogen storage disease ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 232300
Disease Ontology 12 DOID:2752
ICD10 33 E74.02
MeSH 42 D006009
NCIt 47 C84734
Orphanet 56 ORPHA365
ICD10 via Orphanet 34 E74.0
MESH via Orphanet 43 D006009
UMLS via Orphanet 70 C0017921
UMLS 69 C0017921

Summaries for Glycogen Storage Disease Ii

NINDS : 51 Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.  It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).  Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy.  The enzyme performs its function in intracellular compartments called lysosomes.  Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme.  Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.  Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity.  The severity of the disease and the age of onset are related to the degree of enzyme deficiency. 

MalaCards based summary : Glycogen Storage Disease Ii, also known as glycogen storage disease type ii, is related to hemangioma and neurological manifestations of pompe disease, and has symptoms including dyspnea, seizures and generalized muscle weakness. An important gene associated with Glycogen Storage Disease Ii is GAA (Glucosidase Alpha, Acid), and among its related pathways/superpathways are Glucose metabolism and Lysosome. The drugs Methotrexate and rituximab have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and liver, and related phenotype is behavior/neurological.

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

Genetics Home Reference : 25 Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

NIH Rare Diseases : 50 glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. this enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell. this accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. 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.    last updated: 5/14/2015

OMIM : 54 Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the... (232300) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Glycogen storage disease type II (also called Pompe disease /ˈpɒmpə/ or acid maltase deficiency) is... more...

GeneReviews: NBK1261

Related Diseases for Glycogen Storage Disease Ii

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Iiia Glycogen Storage Disease Iv
Glycogen Storage Disease Xv Glycogen Storage Disease X
Glycogen Storage Disease Ib Glycogen Storage Disease Ic
Glycogen Storage Disease Vii Glycogen Storage Disease Vi
Glycogen Storage Disease Ixc Glycogen Storage Disease Xii
Glycogen Storage Disease Xiii Glycogen Storage Disease Ia
Glycogen Storage Disease Ii Glycogen Storage Disease Ix
Glycogen Storage Disease Ixa Glycogen Storage Disease Viii
Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 hemangioma 29.2 GAA GYG1 PRKAG2 PYGM
2 neurological manifestations of pompe disease 12.2
3 glycogen storage disease due to acid maltase deficiency, infantile onset 12.1
4 glycogen storage disease due to acid maltase deficiency, late-onset 12.1
5 x-linked liver glycogenosis type 2 11.9
6 macular degeneration, age-related, 1 11.8
7 adrenomyodystrophy 11.5
8 danon disease 11.0
9 glycogen storage disease, type ixa1 10.9
10 bone marrow failure syndrome 2 10.8
11 letterer-siwe disease 10.8
12 frontonasal dysplasia 2 10.2 GAA LAMP2
13 neuronopathy, distal hereditary motor, type vi 10.1 GAA PYGM
14 glycogen storage disease 10.1
15 myxozoa 10.1 DMD PYGM
16 muscular dystrophy, rigid spine, 1 10.1 DMD GAA
17 anuria 10.1 GAA PYGM
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 10.1 DMD GAA
19 myopathy 10.1
20 retinitis 10.1
21 spastic paraplegia 34, x-linked 10.0 GAA LAMP2 PRKAG2
22 epileptic encephalopathy, early infantile, 9 10.0 LAMP2 PRKAG2
23 long qt syndrome 9 10.0 GAA LAMP2 PRKAG2
24 cubitus valgus with mental retardation and unusual facies 10.0 DMD GAA LAMP2
25 choroiditis 9.9
26 respiratory failure 9.9
27 myotonia 9.9
28 endocardial fibroelastosis 9.8
29 cdkl5-related angelman-like syndrome 9.8 DMD LAMP2 PRKAG2
30 endotheliitis 9.8
31 cataract 9.8
32 diabetic macular edema 9.8
33 lysosomal storage disease 9.8
34 anorexia nervosa 9.7
35 patau syndrome 9.6
36 sympathetic ophthalmia 9.6
37 cancer-associated retinopathy 9.6
38 dystonia 9.6
39 stargardt disease 9.6
40 eye disease 9.6
41 arthritis 9.6
42 retinal disease 9.6
43 conjunctivitis 9.6
44 gastric cancer 9.6
45 thyroiditis 9.6
46 retinal degeneration 9.6
47 scotoma 9.6
48 rheumatoid arthritis 9.6
49 inflammatory bowel disease 9.6
50 candida glabrata 9.6

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



Diseases related to Glycogen Storage Disease Ii

Symptoms & Phenotypes for Glycogen Storage Disease Ii

Symptoms by clinical synopsis from OMIM:

232300

Clinical features from OMIM:

232300

Human phenotypes related to Glycogen Storage Disease Ii:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 56 32 Frequent (79-30%) HP:0002094
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 generalized muscle weakness 56 32 Very frequent (99-80%) HP:0003324
4 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
5 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
6 dysphagia 56 32 Very frequent (99-80%) HP:0002015
7 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
8 dysphasia 56 32 Very frequent (99-80%) HP:0002357
9 macroglossia 56 32 Occasional (29-5%) HP:0000158
10 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
11 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
12 type ii diabetes mellitus 56 32 Very frequent (99-80%) HP:0005978
13 cognitive impairment 56 32 Very frequent (99-80%) HP:0100543
14 myopathy 56 32 Occasional (29-5%) HP:0003198
15 cardiomegaly 56 32 Very frequent (99-80%) HP:0001640
16 hypertrophic cardiomyopathy 56 32 Very frequent (99-80%) HP:0001639
17 atrioventricular block 56 32 Frequent (79-30%) HP:0001678
18 emphysema 56 32 Very frequent (99-80%) HP:0002097
19 respiratory insufficiency due to muscle weakness 56 32 Frequent (79-30%) HP:0002747
20 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
21 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
22 abdominal wall muscle weakness 56 32 Very frequent (99-80%) HP:0009023
23 fever 32 HP:0001945
24 respiratory insufficiency 32 HP:0002093
25 hearing impairment 32 HP:0000365
26 splenomegaly 32 HP:0001744
27 abnormality of the cardiovascular system 56 Very frequent (99-80%)
28 abnormality of metabolism/homeostasis 56 Very frequent (99-80%)
29 arrhythmia 56 Frequent (79-30%)
30 wolff-parkinson-white syndrome 32 HP:0001716
31 areflexia 32 HP:0001284
32 diaphragmatic paralysis 32 HP:0006597
33 proximal muscle weakness 32 HP:0003701
34 cerebral aneurysm 32 HP:0004944
35 abnormal cns myelination 32 HP:0011400
36 shortened pr interval 32 HP:0005165
37 firm muscles 32 HP:0003725

UMLS symptoms related to Glycogen Storage Disease Ii:


dyspnea, weakness

MGI Mouse Phenotypes related to Glycogen Storage Disease Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.1 DMD DNASE1L1 GAA IGF2R LAMP2 PYGM

Drugs & Therapeutics for Glycogen Storage Disease Ii

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

(show top 50) (show all 100)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
2
rituximab Approved Phase 4,Phase 1 174722-31-7 10201696
3
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
4
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
7 Adrenergic Agents Phase 4,Phase 1,Phase 2
8 Adrenergic Agonists Phase 4,Phase 1,Phase 2
9 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
10 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
11 Albuterol Phase 4,Phase 1,Phase 2
12 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
13 Autonomic Agents Phase 4,Phase 1,Phase 2
14 Bronchodilator Agents Phase 4,Phase 1,Phase 2
15 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Early Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
17 Respiratory System Agents Phase 4,Phase 1,Phase 2
18 Tocolytic Agents Phase 4,Phase 1,Phase 2
19 Antimetabolites Phase 4
20 Antimetabolites, Antineoplastic Phase 4
21 Antirheumatic Agents Phase 4,Phase 1
22 Dermatologic Agents Phase 4,Phase 1
23 Folic Acid Antagonists Phase 4
24 Immunosuppressive Agents Phase 4,Phase 1
25 Nucleic Acid Synthesis Inhibitors Phase 4
26 Vitamin B Complex Phase 4
27 Gastrointestinal Agents Phase 4,Phase 1
28 glucagon Phase 4
29 Glucagon-Like Peptide 1 Phase 4
30 Hormone Antagonists Phase 4
31 Hormones Phase 4
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
33 Incretins Phase 4
34 Antibodies Phase 4,Phase 1
35 gamma-Globulins Phase 4,Phase 1
36 Immunoglobulins Phase 4,Phase 1
37 Immunoglobulins, Intravenous Phase 4,Phase 1
38 Rho(D) Immune Globulin Phase 4,Phase 1
39 Alkylating Agents Phase 4
40 Antineoplastic Agents, Alkylating Phase 4
41 Folate Nutraceutical Phase 4
42 Vitamin B9 Nutraceutical Phase 4
43 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
44
Clenbuterol Approved, Vet_approved Phase 1, Phase 2 37148-27-9 2783
45
Miglustat Approved Phase 1, Phase 2 72599-27-0 51634
46
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
47 insulin Phase 2
48 Insulin, Globin Zinc Phase 2
49 Anti-HIV Agents Phase 1, Phase 2
50 Anti-Infective Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 107)
id Name Status NCT ID Phase
1 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
2 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4
3 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Completed NCT00701129 Phase 4
4 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
5 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
6 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
7 Glucagon Efficiency After High and Low Carbohydrate Diet Completed NCT02578498 Phase 4
8 Pompe Pregnancy Sub-Registry Recruiting NCT00567073 Phase 4
9 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4
10 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
11 Pompe Lactation Sub-Registry Recruiting NCT00566878 Phase 4
12 Immune Tolerance Induction Study Recruiting NCT00701701 Phase 4
13 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
14 A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease Terminated NCT01597596 Phase 4
15 A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease Terminated NCT01526785 Phase 4
16 A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease Completed NCT00059280 Phase 2, Phase 3
17 Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602 Completed NCT00125879 Phase 2, Phase 3
18 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
19 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed NCT00158600 Phase 3
20 Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease Recruiting NCT02782741 Phase 3
21 NeoGAA Extension Study Enrolling by invitation NCT02032524 Phase 2, Phase 3
22 BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) Terminated NCT01924845 Phase 3
23 A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II Completed NCT00051935 Phase 2
24 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
25 rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease) Completed NCT00053573 Phase 1, Phase 2
26 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
27 A Study of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
28 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Completed NCT00976352 Phase 1, Phase 2
29 Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies Completed NCT00763932 Phase 2
30 Extension Study of Long-term Safety and Efficacy of Myozyme for a Single Patient With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored ERT Studies. Completed NCT00765414 Phase 2
31 Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease Completed NCT01230801 Phase 1, Phase 2
32 Drug-drug Interaction Study Completed NCT01380743 Phase 2
33 Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease Completed NCT00025896 Phase 2
34 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2
35 Effectiveness of Oral Insulin in Unstable Type 1 Diabetes Patients Completed NCT00867594 Phase 2
36 VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease Recruiting NCT02898753 Phase 1, Phase 2
37 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) Recruiting NCT02432768 Phase 2
38 First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 Active, not recruiting NCT02675465 Phase 1, Phase 2
39 Extension Study for Patients Who Have Participated in a BMN 701 Study Active, not recruiting NCT01435772 Phase 2
40 Sodium Valproate for GSDV Active, not recruiting NCT03112889 Phase 2
41 A Study to Assess Safety and Efficacy of NeoGAA Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa Not yet recruiting NCT03019406 Phase 2
42 Triheptanoin in Mc Ardle Not yet recruiting NCT02919631 Phase 2
43 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2
44 Study to Evaluate the Safety of AT2220 in Pompe Disease Terminated NCT00688597 Phase 2
45 A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Terminated NCT02191917 Phase 2
46 High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease Withdrawn NCT01656590 Phase 2
47 Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Completed NCT01859624 Phase 1
48 Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. Completed NCT01898364 Phase 1
49 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1
50 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1

Search NIH Clinical Center for Glycogen Storage Disease Ii

Cochrane evidence based reviews: glycogen storage disease type ii

Genetic Tests for Glycogen Storage Disease Ii

Genetic tests related to Glycogen Storage Disease Ii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Ii 29
2 Glycogen Storage Disease Type Ii (pompe Disease) 24 GAA

Anatomical Context for Glycogen Storage Disease Ii

MalaCards organs/tissues related to Glycogen Storage Disease Ii:

39
Heart, Skeletal Muscle, Liver

Publications for Glycogen Storage Disease Ii

Articles related to Glycogen Storage Disease Ii:

id Title Authors Year
1
Molecular genetics of late onset glycogen storage disease II in Italy. ( 17915575 )
2007
2
Echocardiographic features in the cardiac type of glycogen storage disease II. ( 6572589 )
1983
3
Studies in glycogen storage disease. II. Heterogeneity in the inheritance of glycogen storage diseases. ( 4295468 )
1967
4
Glycogen storage disease. II. Histochemical studies of glycogenolysis in human hearts obtained postmortem, with special reference to glycogen storage disease. ( 24539253 )
1950

Variations for Glycogen Storage Disease Ii

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

66 (show top 50) (show all 130)
id 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 rs28939100
21 GAA p.Pro768Arg VAR_004312
22 GAA p.Val949Asp VAR_004318
23 GAA p.Arg600His VAR_008689 rs377544304
24 GAA p.Gly615Arg VAR_008690 rs549029029
25 GAA p.Cys103Gly VAR_018078 rs398123174
26 GAA p.Gly219Arg VAR_018079 rs370950728
27 GAA p.Pro285Arg VAR_018080
28 GAA p.Tyr292Cys VAR_018081
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
41 GAA p.Arg600Cys VAR_018095 rs764670084
42 GAA p.Gly607Asp VAR_018096
43 GAA p.Ala880Asp VAR_018097
44 GAA p.Leu208Pro VAR_029025
45 GAA p.Arg224Trp VAR_029026 rs757700700
46 GAA p.Ala237Val VAR_029027 rs121907944
47 GAA p.Glu262Lys VAR_029028 rs201896815
48 GAA p.Pro324Leu VAR_029029 rs750030887
49 GAA p.Trp330Gly VAR_029030
50 GAA p.Pro361Leu VAR_029031 rs755253527

ClinVar genetic disease variations for Glycogen Storage Disease Ii:

6 (show top 50) (show all 112)
id Gene Variation Type Significance SNP ID Assembly Location
1 GAA NM_000152.4(GAA): c.1561G> A (p.Glu521Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121907937 GRCh37 Chromosome 17, 78084749: 78084749
2 GAA NM_000152.4(GAA): c.1927G> A (p.Gly643Arg) single nucleotide variant Pathogenic rs28937909 GRCh37 Chromosome 17, 78086713: 78086713
3 GAA NM_000152.4(GAA): c.2173C> T (p.Arg725Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121907938 GRCh37 Chromosome 17, 78087149: 78087149
4 GAA NM_000152.4(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 GRCh37 Chromosome 17, 78078341: 78078341
5 GAA NM_000152.4(GAA): c.1935C> A (p.Asp645Glu) single nucleotide variant Pathogenic rs28940868 GRCh37 Chromosome 17, 78086721: 78086721
6 GAA NM_000152.4(GAA): c.2482_2646del165 (p.Gly828_Asn882del) deletion Pathogenic GRCh37 Chromosome 17, 78091992: 78092156
7 GAA NM_000152.4(GAA): c.525delT (p.Glu176Argfs) deletion Pathogenic rs386834235 GRCh37 Chromosome 17, 78078910: 78078910
8 GAA NM_000152.4(GAA): c.2560C> T (p.Arg854Ter) single nucleotide variant Pathogenic rs121907943 GRCh37 Chromosome 17, 78092070: 78092070
9 GAA GAA, IVS1AS, G-C, -1 single nucleotide variant Pathogenic
10 GAA NM_000152.4(GAA): c.1465G> A (p.Asp489Asn) single nucleotide variant Pathogenic rs398123169 GRCh37 Chromosome 17, 78084553: 78084553
11 GAA NM_000152.4(GAA): c.2012T> G (p.Met671Arg) single nucleotide variant Pathogenic rs398123170 GRCh37 Chromosome 17, 78086798: 78086798
12 GAA NM_000152.4(GAA): c.2066_2070dupAGCCG (p.Ala691Serfs) duplication Pathogenic rs398123171 GRCh37 Chromosome 17, 78087042: 78087046
13 GAA NM_000152.4(GAA): c.2105G> T (p.Arg702Leu) single nucleotide variant Likely pathogenic rs398123172 GRCh37 Chromosome 17, 78087081: 78087081
14 GAA NM_000152.4(GAA): c.2512C> T (p.Gln838Ter) single nucleotide variant Pathogenic rs369532274 GRCh37 Chromosome 17, 78092022: 78092022
15 GAA NM_000152.4(GAA): c.2544delC (p.Lys849Argfs) deletion Pathogenic rs398123173 GRCh37 Chromosome 17, 78092054: 78092054
16 GAA NM_000152.4(GAA): c.307T> G (p.Cys103Gly) single nucleotide variant Pathogenic rs398123174 GRCh37 Chromosome 17, 78078692: 78078692
17 GAA NM_000152.4(GAA): c.1004G> A (p.Gly335Glu) single nucleotide variant Pathogenic rs730880022 GRCh37 Chromosome 17, 78082137: 78082137
18 GAA NM_000152.4(GAA): c.2078dupA (p.Ala694Glyfs) duplication Pathogenic rs730880372 GRCh37 Chromosome 17, 78087054: 78087054
19 GAA NM_000152.4(GAA): c.896T> C (p.Leu299Pro) single nucleotide variant Pathogenic rs121907940 GRCh37 Chromosome 17, 78081636: 78081636
20 GAA NM_000152.4(GAA): c.1437G> A (p.Lys479=) single nucleotide variant Pathogenic rs796051877 GRCh37 Chromosome 17, 78083854: 78083854
21 GAA NM_000152.4(GAA): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs786204467 GRCh37 Chromosome 17, 78078386: 78078386
22 GAA NM_000152.4(GAA): c.172C> T (p.Gln58Ter) single nucleotide variant Likely pathogenic rs201185475 GRCh37 Chromosome 17, 78078557: 78078557
23 GAA NM_000152.4(GAA): c.343C> T (p.Gln115Ter) single nucleotide variant Likely pathogenic rs786204614 GRCh37 Chromosome 17, 78078728: 78078728
24 GAA NM_000152.4(GAA): c.365delT (p.Met122Argfs) deletion Likely pathogenic rs786204661 GRCh38 Chromosome 17, 80104951: 80104951
25 GAA NM_000152.4(GAA): c.525_526delTG (p.Asn177Profs) deletion Likely pathogenic rs767882689 GRCh38 Chromosome 17, 80105111: 80105112
26 GAA NM_000152.4(GAA): c.569G> A (p.Arg190His) single nucleotide variant Likely pathogenic rs528367092 GRCh37 Chromosome 17, 78079570: 78079570
27 GAA NM_000152.4(GAA): c.655G> A (p.Gly219Arg) single nucleotide variant Pathogenic/Likely pathogenic rs370950728 GRCh37 Chromosome 17, 78079656: 78079656
28 GAA NM_000152.4(GAA): c.766_785del20insC (p.Tyr256Argfs) indel Pathogenic/Likely pathogenic rs786204532 GRCh37 Chromosome 17, 78081429: 78081448
29 GAA NM_000152.4(GAA): c.784G> A (p.Glu262Lys) single nucleotide variant Likely pathogenic rs201896815 GRCh37 Chromosome 17, 78081447: 78081447
30 GAA NM_000152.4(GAA): c.925G> A (p.Gly309Arg) single nucleotide variant Likely pathogenic rs543300039 GRCh37 Chromosome 17, 78081665: 78081665
31 GAA NM_000152.4(GAA): c.1051delG (p.Val351Cysfs) deletion Pathogenic/Likely pathogenic rs786204507 GRCh37 Chromosome 17, 78082184: 78082184
32 GAA NM_000152.4(GAA): c.1128_1129delGGinsC (p.Trp376Cysfs) indel Pathogenic/Likely pathogenic rs786204646 GRCh37 Chromosome 17, 78082340: 78082341
33 GAA NM_000152.4(GAA): c.1156C> T (p.Gln386Ter) single nucleotide variant Likely pathogenic rs786204517 GRCh37 Chromosome 17, 78082368: 78082368
34 GAA NM_000152.4(GAA): c.1309C> T (p.Arg437Cys) single nucleotide variant Likely pathogenic rs770610356 GRCh37 Chromosome 17, 78082610: 78082610
35 GAA NM_000152.4(GAA): c.1411_1414delGAGA (p.Glu471Profs) deletion Likely pathogenic rs770276275 GRCh37 Chromosome 17, 78083828: 78083831
36 GAA NM_000152.4(GAA): c.1438-1G> C single nucleotide variant Likely pathogenic rs147804176 GRCh38 Chromosome 17, 80110726: 80110726
37 GAA NM_000152.4(GAA): c.1441T> C (p.Trp481Arg) single nucleotide variant Likely pathogenic rs772883420 GRCh37 Chromosome 17, 78084529: 78084529
38 GAA NM_000152.4(GAA): c.1548G> A (p.Trp516Ter) single nucleotide variant Pathogenic/Likely pathogenic rs140826989 GRCh38 Chromosome 17, 80110837: 80110837
39 GAA NM_000152.4(GAA): c.1556T> C (p.Met519Thr) single nucleotide variant Likely pathogenic rs786204720 GRCh37 Chromosome 17, 78084744: 78084744
40 GAA NM_000152.4(GAA): c.1826dupA (p.Tyr609Terfs) duplication Likely pathogenic rs786204727 GRCh37 Chromosome 17, 78086448: 78086448
41 GAA NM_000152.4(GAA): c.1827delC (p.Tyr609Terfs) deletion Pathogenic/Likely pathogenic rs781088002 GRCh37 Chromosome 17, 78086449: 78086449
42 GAA NM_000152.4(GAA): c.1843G> A (p.Gly615Arg) single nucleotide variant Likely pathogenic rs549029029 GRCh37 Chromosome 17, 78086465: 78086465
43 GAA NM_000152.4(GAA): c.1933G> A (p.Asp645Asn) single nucleotide variant Pathogenic/Likely pathogenic rs368438393 GRCh37 Chromosome 17, 78086719: 78086719
44 GAA NM_000152.4(GAA): c.1933G> C (p.Asp645His) single nucleotide variant Likely pathogenic rs368438393 GRCh37 Chromosome 17, 78086719: 78086719
45 GAA NM_000152.4(GAA): c.1942G> A (p.Gly648Ser) single nucleotide variant Likely pathogenic rs536906561 GRCh37 Chromosome 17, 78086728: 78086728
46 GAA NM_000152.4(GAA): c.1979G> A (p.Arg660His) single nucleotide variant Pathogenic/Likely pathogenic rs374143224 GRCh37 Chromosome 17, 78086765: 78086765
47 GAA NM_000152.4(GAA): c.2014C> T (p.Arg672Trp) single nucleotide variant Pathogenic/Likely pathogenic rs757111744 GRCh38 Chromosome 17, 80113001: 80113001
48 GAA NM_000152.4(GAA): c.2024_2026delACA (p.Asn675del) deletion Likely pathogenic rs786204621 GRCh37 Chromosome 17, 78086810: 78086812
49 GAA NM_000152.4(GAA): c.2104C> T (p.Arg702Cys) single nucleotide variant Likely pathogenic rs786204645 GRCh37 Chromosome 17, 78087080: 78087080
50 GAA NM_000152.4(GAA): c.2140delC (p.His714Thrfs) deletion Pathogenic/Likely pathogenic rs786204549 GRCh37 Chromosome 17, 78087116: 78087116

Expression for Glycogen Storage Disease Ii

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

Pathways for Glycogen Storage Disease Ii

GO Terms for Glycogen Storage Disease Ii

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

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.5 GAA IGF2R LAMP2
2 extracellular exosome GO:0070062 9.5 DNASE1L1 GAA GANAB GYG1 IGF2R LAMP2
3 ficolin-1-rich granule membrane GO:0101003 9.37 GAA LAMP2
4 lysosomal membrane GO:0005765 9.33 GAA IGF2R LAMP2
5 azurophil granule membrane GO:0035577 9.26 GAA LAMP2
6 lysosomal lumen GO:0043202 8.8 GAA GYG1 LAMP2

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

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.65 DNASE1L1 GAA GYG1 IGF2R LAMP2
2 carbohydrate metabolic process GO:0005975 9.5 GAA GANAB PYGM
3 cardiac muscle contraction GO:0060048 9.37 DMD GAA
4 glycogen metabolic process GO:0005977 9.33 GAA PRKAG2 PYGM
5 glycogen catabolic process GO:0005980 9.13 GAA GYG1 PYGM
6 muscle cell cellular homeostasis GO:0046716 8.8 DMD GAA LAMP2

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

id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.13 GAA GANAB PYGM
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.62 GAA GANAB

Sources for Glycogen Storage Disease Ii

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16 ExPASy
18 FMA
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