MCID: GLY008
MIFTS: 61

Glycogen Storage Disease Ii 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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Glycogen Storage Disease Ii:

Name: Glycogen Storage Disease Ii 51 11 69 12 13
Glycogen Storage Disease Type Ii 11 23 24 25 53 38 67
Acid Maltase Deficiency 11 23 24 25 48 69
Pompe Disease 47 25 48 53 69 49
Gsd Ii 23 47 24 25 69
Glycogenosis Type Ii 23 24 25 53
Gaa Deficiency 23 24 25 69
Acid Alpha-Glucosidase Deficiency 23 24 69
Alpha-1,4-Glucosidase Deficiency 47 25 69
Deficiency of Alpha-Glucosidase 47 25
Acid Maltase Deficiency Disease 47 25
Glycogen Storage Disease Type 2 47 53
Glycogen Storage Disease 2 69 26
Pompe's Disease 11 25
Gsd2 25 69
Amd 25 69
Glycogen Storage Disease Due to Acid Maltase Deficiency 53
Generalized Glycogen Storage Disease of Infants 67
Glycogenosis Due to Acid Maltase Deficiency 53
Lysosomal Alpha-1,4-Glucosidase Deficiency 11
 
Deficiency of Lysosomal Alpha-Glucosidase 47
Cardiac Form of Generalized Glycogenosis 67
Alpha-1,4-Glucosidase Acid Deficiency 53
Glycogenosis Generalized Cardiac Form 69
Gsd Due to Acid Maltase Deficiency 53
Glycogen Storage Disease, Type Ii 11
Cardiomegalia Glycogenica Diffusa 47
Deficiency of Glucoamylase 11
Cardiomegalia Glycogenica 69
Generalized Glycogenosis 11
Glucosidase, Acid Alpha- 12
Deficiency of Maltase 11
Glycogenosis, Type 2 11
Glycogenosis Type 2 53
Aglucosidase Alfa 47
Glycogenosis Ii 69
Gsd Type Ii 53
Gsd Type 2 53
Gsd-Ii 69
Gsdii 24

Characteristics:

Orphanet epidemiological data:

53
glycogen storage disease type ii:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: any age

HPO:

63
glycogen storage disease ii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 232300
Disease Ontology11 DOID:2752
ICD1029 E74.02
MeSH38 D006009
NCIt44 C84734
Orphanet53 ORPHA365
ICD10 via Orphanet30 E74.0
MESH via Orphanet39 D006009
UMLS via Orphanet68 C0017921

Summaries for Glycogen Storage Disease Ii

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NIH Rare Diseases:47 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

MalaCards based summary: Glycogen Storage Disease Ii, also known as glycogen storage disease type ii, is related to glycogen storage disease due to acid maltase deficiency, infantile onset and neurological manifestations of pompe disease, and has symptoms including seizures, gait disturbance and hypertrophic cardiomyopathy. An important gene associated with Glycogen Storage Disease Ii is GAA (Glucosidase Alpha, Acid), and among its related pathways are Galactose metabolism and Glycogen Metabolism. Affiliated tissues include skeletal muscle, heart and liver, and related mouse phenotypes are muscle and cardiovascular system.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:69 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.

NINDS:48 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.

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.

OMIM:51 Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the... (232300) more...

Wikipedia:70 Glycogen storage disease type II (also called Pompe disease /ˈpɒmpə/ or acid maltase deficiency) is... more...

GeneReviews for NBK1261

Related Diseases for Glycogen Storage Disease Ii

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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 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)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease due to acid maltase deficiency, infantile onset12.1
2neurological manifestations of pompe disease12.1
3glycogen storage disease due to acid maltase deficiency, late-onset12.1
4x-linked liver glycogenosis type 211.9
5macular degeneration, age-related, 111.7
6adrenomyodystrophy11.5
7danon disease11.0
8glycogen storage disease, type ixa110.9
9bone marrow failure syndrome 210.8
10letterer-siwe disease10.8
11muscular dystrophy, rigid spine, 110.3DMD, GAA
12neuronopathy, distal hereditary motor, type vi10.3GAA, PYGM
13kidney papillary necrosis10.2GAA, PYGM
14epilepsy, generalized, with febrile seizures plus, type 110.2DMD, GAA
15mucopolysaccharidosis ih/s10.2GAA, IDUA
16epileptic encephalopathy, early infantile, 910.1LAMP2, PRKAG2
17glycogen storage disease10.1
18spastic paraplegia 34, x-linked10.1GAA, LAMP2, PRKAG2
19myopathy10.1
20retinitis10.1
21cubitus valgus with mental retardation and unusual facies10.0DMD, GAA, LAMP2
22malignant glioma10.0GAA, IDUA
23choroiditis9.9
24posterior foramen magnum meningioma9.9GAA, IDUA
25respiratory failure9.9
26myotonia9.9
27endocardial fibroelastosis9.8
28cataract9.8
29diabetic macular edema9.8
30endotheliitis9.8
31lysosomal storage disease9.8
32anorexia nervosa9.7
33hemangioma9.7
34rheumatoid arthritis9.6
35stargardt disease9.6
36arthritis9.6
37gastric cancer9.6
38lymphoma9.6
39patau syndrome9.6
40sympathetic ophthalmia9.6
41dystonia9.6
42eye disease9.6
43retinal disease9.6
44conjunctivitis9.6
45thyroiditis9.6
46retinal degeneration9.6
47scotoma9.6
48candida glabrata9.6
49cancer-associated retinopathy9.6
50cardiovascular disease risk factor )9.5DMD, LAMP2, PRKAG2

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



Diseases related to glycogen storage disease ii

Symptoms for Glycogen Storage Disease Ii

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Symptoms by clinical synopsis from OMIM:

232300

Clinical features from OMIM:

232300

Human phenotypes related to Glycogen Storage Disease Ii:

 63 53 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
2 gait disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0001288
3 hypertrophic cardiomyopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0001639
4 cardiomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001640
5 emphysema63 53 hallmark (90%) Very frequent (99-80%) HP:0002097
6 neurological speech impairment63 hallmark (90%) HP:0002167
7 eeg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0002353
8 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
9 type ii diabetes mellitus63 53 hallmark (90%) Very frequent (99-80%) HP:0005978
10 feeding difficulties in infancy63 hallmark (90%) HP:0008872
11 aplasia/hypoplasia of the abdominal wall musculature63 hallmark (90%) HP:0010318
12 cognitive impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0100543
13 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
14 arrhythmia63 53 typical (50%) Frequent (79-30%) HP:0011675
15 abnormality of the tongue63 occasional (7.5%) HP:0000157
16 recurrent respiratory infections63 53 occasional (7.5%) Occasional (29-5%) HP:0002205
17 hepatomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002240
18 myopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0003198
19 macroglossia63 53 Occasional (29-5%) HP:0000158
20 hearing impairment63 HP:0000365
21 areflexia63 HP:0001284
22 wolff-parkinson-white syndrome63 HP:0001716
23 splenomegaly63 HP:0001744
24 fever63 HP:0001945
25 dyspnea63 53 Frequent (79-30%) HP:0002094
26 respiratory insufficiency due to muscle weakness63 53 Frequent (79-30%) HP:0002747
27 elevated serum creatine phosphokinase63 53 Very frequent (99-80%) HP:0003236
28 proximal muscle weakness63 HP:0003701
29 firm muscles63 HP:0003725
30 cerebral aneurysm63 HP:0004944
31 shortened pr interval63 HP:0005165
32 diaphragmatic paralysis63 HP:0006597
33 abnormal cns myelination63 HP:0011400
34 abnormality of the cardiovascular system53 Very frequent (99-80%)
35 atrioventricular block53 Frequent (79-30%)
36 abnormality of metabolism/homeostasis53 Very frequent (99-80%)
37 dysphagia53 Very frequent (99-80%)
38 dysphasia53 Very frequent (99-80%)
39 generalized muscle weakness53 Very frequent (99-80%)
40 abdominal wall muscle weakness53 Very frequent (99-80%)

UMLS symptoms related to Glycogen Storage Disease Ii:


weakness, hepatomegaly, dyspnea

Drugs & Therapeutics for Glycogen Storage Disease Ii

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

(show top 50)    (show all 95)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MethotrexateapprovedPhase 415181959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
 
Methopterin
Methotextrate
Methotrate
Methotrexat
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
2
rituximabapprovedPhase 4, Phase 11654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
3
Bortezomibapproved, investigationalPhase 4794179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
4
Cyclophosphamideapproved, investigationalPhase 4282950-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
5
Folic Acidapproved, nutraceutical, vet_approvedPhase 4427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
6Nucleic Acid Synthesis InhibitorsPhase 44855
7Immunosuppressive AgentsPhase 4, Phase 112770
8Folic Acid AntagonistsPhase 42200
9Gastrointestinal AgentsPhase 4, Phase 18109
10Hormone AntagonistsPhase 412778
11IncretinsPhase 41537
12Adrenergic AgentsPhase 4, Phase 1, Phase 25140
13Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
14HormonesPhase 413979
15Glucagon-Like Peptide 1Phase 4694
16glucagonPhase 4462
17Vitamin B ComplexPhase 44229
18Bronchodilator AgentsPhase 4, Phase 1, Phase 22856
19Neurotransmitter AgentsPhase 4, Phase 1, Phase 2, Early Phase 117734
20Autonomic AgentsPhase 4, Phase 1, Phase 29774
21Anti-Asthmatic AgentsPhase 4, Phase 1, Phase 23369
22Adrenergic beta-AgonistsPhase 4, Phase 1, Phase 21640
23AlbuterolPhase 4, Phase 1, Phase 2408
24Peripheral Nervous System AgentsPhase 4, Phase 1, Phase 222776
25Respiratory System AgentsPhase 4, Phase 1, Phase 24818
26Antirheumatic AgentsPhase 4, Phase 110627
27Adrenergic AgonistsPhase 4, Phase 1, Phase 22877
28Dermatologic AgentsPhase 4, Phase 15674
29AntimetabolitesPhase 411774
30Antimetabolites, AntineoplasticPhase 47171
31Tocolytic AgentsPhase 4, Phase 1, Phase 2708
32Adrenergic beta-2 Receptor AgonistsPhase 4, Phase 1, Phase 2925
33Rho(D) Immune GlobulinPhase 4, Phase 1317
34Immunoglobulins, IntravenousPhase 4, Phase 1324
35Alkylating AgentsPhase 44694
36Antineoplastic Agents, AlkylatingPhase 44474
37AntibodiesPhase 4, Phase 16045
38ImmunoglobulinsPhase 4, Phase 16045
39gamma-GlobulinsPhase 4, Phase 1317
40Folinic AcidNutraceuticalPhase 43150
41FolateNutraceuticalPhase 44279
42Vitamin B9NutraceuticalPhase 44279
43Pharmaceutical SolutionsPhase 3, Phase 2, Phase 17793
44
Clenbuterolapproved, vet_approvedPhase 1, Phase 2337148-27-92783
Synonyms:
(+)-4-Amino-alpha-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
(+-)-Clenbuterol
(+-)-clenbuterol
(-)-4-Amino-alpha-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
(±)-clenbuterol
1-(4-Amino-3,5-dichloro-phenyl)-2-tert-butylamino-ethanol
1-(4-Amino-3,5-dichlorophenyl)-2-(tert-butylamino)ethanol
1-(4-amino-3,5-dichlorophenyl)-2-[(1,1-dimethylethyl)amino]ethanol
37148-27-9
4-Amino-3,5-dichloro-alpha-(((1,1-dimethylethyl)amino)methyl)benzenemethanol
4-Amino-alpha-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
4-amino-3,5-Dichloro-alpha-(((1,1-dimethylethyl)amino)methyl)benzenemethanol
4-amino-alpha-((Tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
4-amino-α-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
50306-03-1
50499-60-0
AB00053680
AC-10284
AC1L1EGH
BPBio1_000451
BRD-A75726477-003-04-9
BRN 1076467
BSPBio_000409
BSPBio_002609
C12H18Cl2N2O
CHEBI:174690
CHEMBL49080
CID2783
CLENBUTEROL
Clenbuterol (INN)
Clenbuterol [BAN:INN]
Clenbuterolum
Clenbuterolum [INN-Latin]
Clenbuterolum [inn-latin]
Contraspasmin
Contraspasmin (TN)
D07713
 
DB01407
DivK1c_000794
EINECS 253-366-0
EINECS 256-531-5
EINECS 256-608-3
HMS2089I15
IDI1_000794
KBio1_000794
KBio2_002044
KBio2_004612
KBio2_007180
KBio3_001829
KBioGR_001066
KBioGR_001518
KBioSS_002044
LS-30602
MolPort-003-845-975
NAB-365
NCGC00163150-01
NCGC00163150-02
NCGC00163150-03
NCGC00163150-04
NINDS_000794
Planipart
Planipart [veterinary]
Planipart [veterinary] (TN)
Prestwick0_000345
Prestwick1_000345
Prestwick2_000345
Prestwick3_000345
SPBio_002330
Spectrum3_000975
Spectrum4_000743
Spectrum4_001099
Spectrum5_001497
Spectrum_001564
UNII-XTZ6AXU7KN
clenbuterol
nchembio.307-comp6
45
MiglustatapprovedPhase 1, Phase 22172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
46Insulin, Globin ZincPhase 24523
47insulinPhase 24524
48Glycoside Hydrolase InhibitorsPhase 1, Phase 2128
49Cardiac GlycosidesPhase 1, Phase 2148
50Hypoglycemic AgentsPhase 1, Phase 25733

Interventional clinical trials:

(show top 50)    (show all 102)
idNameStatusNCT IDPhase
1Evaluation of Salbutamol as an Adjuvant Therapy for Pompe DiseaseCompletedNCT02405598Phase 4
2An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe DiseaseCompletedNCT00701129Phase 4
3Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase AlfaCompletedNCT01288027Phase 4
4High Dose or High Dose Frequency Study of Alglucosidase AlfaCompletedNCT00483379Phase 4
5Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
6Glucagon Efficiency After High and Low Carbohydrate DietCompletedNCT02578498Phase 4
7Pompe Pregnancy Sub-RegistryRecruitingNCT00567073Phase 4
8CPAP for Infantile Pompe DiseaseRecruitingNCT02405624Phase 4
9Immune Modulation Therapy for Pompe DiseaseRecruitingNCT02525172Phase 4
10Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe DiseaseRecruitingNCT01410890Phase 4
11Pompe Lactation Sub-RegistryRecruitingNCT00566878Phase 4
12Immune Tolerance Induction StudyRecruitingNCT00701701Phase 4
13Growth and Development Study of Alglucosidase Alfa.Active, not recruitingNCT00486889Phase 4
14A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe DiseaseTerminatedNCT01597596Phase 4
15A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe DiseaseTerminatedNCT01526785Phase 4
16A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe DiseaseCompletedNCT00059280Phase 2, Phase 3
17Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602CompletedNCT00125879Phase 2, Phase 3
18Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory SupportCompletedNCT00268944Phase 3
19A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe DiseaseCompletedNCT00158600Phase 3
20BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)RecruitingNCT01924845Phase 3
21Study 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 DiseaseRecruitingNCT02782741Phase 3
22NeoGAA Extension StudyRecruitingNCT02032524Phase 2, Phase 3
23A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type IICompletedNCT00051935Phase 2
24Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement TherapyCompletedNCT01942590Phase 1, Phase 2
25rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)CompletedNCT00053573Phase 1, Phase 2
26Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement TherapyCompletedNCT01885936Phase 1, Phase 2
27A Study of rhGAA in Patients With Late-Onset Pompe DiseaseCompletedNCT00250939Phase 2
28Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe DiseaseCompletedNCT00976352Phase 1, Phase 2
29Extension 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) StudiesCompletedNCT00763932Phase 2
30Extension 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.CompletedNCT00765414Phase 2
31Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe DiseaseCompletedNCT01230801Phase 1, Phase 2
32Drug-drug Interaction StudyCompletedNCT01380743Phase 2
33Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe DiseaseCompletedNCT00025896Phase 2
34Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body DiseaseCompletedNCT00947960Phase 2
35Effectiveness of Oral Insulin in Unstable Type 1 Diabetes PatientsCompletedNCT00867594Phase 2
36First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221RecruitingNCT02675465Phase 1, Phase 2
37The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)RecruitingNCT02432768Phase 2
38Extension Study for Patients Who Have Participated in a BMN 701 StudyActive, not recruitingNCT01435772Phase 2
39VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe DiseaseNot yet recruitingNCT02898753Phase 1, Phase 2
40A Study to Assess Safety and Efficacy of NeoGAA Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase AlfaNot yet recruitingNCT03019406Phase 2
41Triheptanoin in Mc ArdleNot yet recruitingNCT02919631Phase 2
42Study to Evaluate the Safety of AT2220 in Pompe DiseaseTerminatedNCT00688597Phase 2
43A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)TerminatedNCT02191917Phase 2
44High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe DiseaseWithdrawnNCT01656590Phase 2
45Albuterol in Individuals With Late Onset Pompe Disease (LOPD)CompletedNCT01859624Phase 1
46Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.CompletedNCT01898364Phase 1
47A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionRecruitingNCT02185651Phase 1
48Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe DiseaseNot yet recruitingNCT02240407Phase 1
49A Clinical Study to Assess the Effects of SRT2104 Upon Immobilization-Induced Skeletal Muscle Atrophy in Healthy Human VolunteersWithdrawnNCT01039909Phase 1
50Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass SpectrometryUnknown statusNCT01409486

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

About this section

Genetic tests related to Glycogen Storage Disease Ii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Ii26
2 Glycogen Storage Disease Type Ii (pompe Disease)24 GAA

Anatomical Context for Glycogen Storage Disease Ii

About this section

MalaCards organs/tissues related to Glycogen Storage Disease Ii:

35
Skeletal muscle, Heart, Liver, Tongue

Animal Models for Glycogen Storage Disease Ii or affiliated genes

About this section

MGI Mouse Phenotypes related to Glycogen Storage Disease Ii:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5DMD, GAA, IDUA, LAMP2, PYGM
2MP:00053858.4DMD, GAA, GYG1, IDUA, IGF2R, LAMP2
3MP:00053868.2DMD, DNASE1L1, GAA, IDUA, IGF2R, LAMP2

Publications for Glycogen Storage Disease Ii

About this section

Articles related to Glycogen Storage Disease Ii:

idTitleAuthorsYear
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

About this section

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

69 (show all 130)
id Symbol AA change Variation ID SNP ID
1GAAp.Leu299ArgVAR_004288rs121907940
2GAAp.Met318ThrVAR_004289rs121907936
3GAAp.Trp402ArgVAR_004290
4GAAp.Gly478ArgVAR_004291rs778068209
5GAAp.Trp481ArgVAR_004292rs772883420
6GAAp.Met519ThrVAR_004293rs786204720
7GAAp.Met519ValVAR_004294
8GAAp.Glu521LysVAR_004295rs121907937
9GAAp.Ser529ValVAR_004296rs121907941
10GAAp.Pro545LeuVAR_004297rs121907942
11GAAp.Ser566ProVAR_004298
12GAAp.Gly643ArgVAR_004301rs28937909
13GAAp.Asp645GluVAR_004302rs28940868
14GAAp.Asp645HisVAR_004303rs368438393
15GAAp.Asp645AsnVAR_004304rs368438393
16GAAp.Cys647TrpVAR_004305rs776948121
17GAAp.Gly648SerVAR_004306rs536906561
18GAAp.Arg672GlnVAR_004307rs778418246
19GAAp.Arg672TrpVAR_004308rs757111744
20GAAp.Arg725TrpVAR_004310rs28939100
21GAAp.Pro768ArgVAR_004312
22GAAp.Val949AspVAR_004318
23GAAp.Arg600HisVAR_008689rs377544304
24GAAp.Gly615ArgVAR_008690rs549029029
25GAAp.Cys103GlyVAR_018078rs398123174
26GAAp.Gly219ArgVAR_018079rs370950728
27GAAp.Pro285ArgVAR_018080
28GAAp.Tyr292CysVAR_018081
29GAAp.Gly293ArgVAR_018082rs121907945
30GAAp.His308ProVAR_018083
31GAAp.Gly309ArgVAR_018084rs543300039
32GAAp.Leu312ArgVAR_018085
33GAAp.Leu355ProVAR_018086rs766074609
34GAAp.Cys374ArgVAR_018087
35GAAp.Leu405ProVAR_018088
36GAAp.Tyr455PheVAR_018089
37GAAp.Gly549ArgVAR_018091
38GAAp.Leu552ProVAR_018092rs779556619
39GAAp.Tyr575SerVAR_018093
40GAAp.Glu579LysVAR_018094
41GAAp.Arg600CysVAR_018095rs764670084
42GAAp.Gly607AspVAR_018096
43GAAp.Ala880AspVAR_018097
44GAAp.Leu208ProVAR_029025
45GAAp.Arg224TrpVAR_029026rs757700700
46GAAp.Ala237ValVAR_029027rs121907944
47GAAp.Glu262LysVAR_029028rs201896815
48GAAp.Pro324LeuVAR_029029rs750030887
49GAAp.Trp330GlyVAR_029030
50GAAp.Pro361LeuVAR_029031rs755253527
51GAAp.Gly377ArgVAR_029032rs752002666
52GAAp.Asp404AsnVAR_029033rs141533320
53GAAp.Met408ValVAR_029034rs560575383
54GAAp.Arg437CysVAR_029035rs770610356
55GAAp.Ala445ProVAR_029036
56GAAp.Asp489AsnVAR_029037rs398123169
57GAAp.His612GlnVAR_029038
58GAAp.Leu901GlnVAR_029039
59GAAp.Pro457LeuVAR_029040
60GAAp.Tyr191CysVAR_046467
61GAAp.His308LeuVAR_046468
62GAAp.Arg375LeuVAR_046469rs142752477
63GAAp.Gln401ArgVAR_046470
64GAAp.Pro522AlaVAR_046471
65GAAp.Arg585MetVAR_046472
66GAAp.Ser599TyrVAR_046473rs753505203
67GAAp.Ser619ArgVAR_046475
68GAAp.Gly638TrpVAR_046476rs757617999
69GAAp.Arg660HisVAR_046477rs374143224
70GAAp.Arg672ThrVAR_046478
71GAAp.Arg702CysVAR_046479rs786204645
72GAAp.Ser46ProVAR_068564rs777215354
73GAAp.Cys103ArgVAR_068567
74GAAp.Cys108GlyVAR_068568
75GAAp.Cys127PheVAR_068569
76GAAp.Arg190HisVAR_068570rs528367092
77GAAp.Pro217LeuVAR_068571
78GAAp.Arg224ProVAR_068574
79GAAp.Arg224GlnVAR_068575rs200210219
80GAAp.Thr234LysVAR_068576
81GAAp.Thr234ArgVAR_068577
82GAAp.Ser251LeuVAR_068578rs200856561
83GAAp.Ser254LeuVAR_068579rs577915581
84GAAp.Pro266SerVAR_068580
85GAAp.Pro285SerVAR_068582
86GAAp.Leu291PheVAR_068584rs773417785
87GAAp.Leu291ProVAR_068585
88GAAp.Asn316IleVAR_068587
89GAAp.Met318LysVAR_068588
90GAAp.Gly335GluVAR_068589rs730880022
91GAAp.Gly335ArgVAR_068590rs202095215
92GAAp.Pro347ArgVAR_068591
93GAAp.Pro397LeuVAR_068594rs776008078
94GAAp.Asp419ValVAR_068595
95GAAp.Pro457HisVAR_068596
96GAAp.Pro482ArgVAR_068598
97GAAp.Gly483ValVAR_068599
98GAAp.Ala486ProVAR_068600
99GAAp.Glu521GlnVAR_068601
100GAAp.Pro522SerVAR_068602
101GAAp.Ser523TyrVAR_068603
102GAAp.Phe525TyrVAR_068604
103GAAp.Ile557PheVAR_068605
104GAAp.Cys558SerVAR_068606
105GAAp.Asn570LysVAR_068607
106GAAp.His572GlnVAR_068608rs772962666
107GAAp.Tyr575CysVAR_068609
108GAAp.Gly576ArgVAR_068610
109GAAp.Arg594HisVAR_068612rs775450536
110GAAp.Arg594ProVAR_068613rs775450536
111GAAp.Ser601LeuVAR_068614
112GAAp.Thr602AlaVAR_068615rs781484283
113GAAp.Ala610ValVAR_068616
114GAAp.His612TyrVAR_068618
115GAAp.Thr614LysVAR_068619rs369531647
116GAAp.Ser627ProVAR_068620
117GAAp.Asn635LysVAR_068622
118GAAp.Gly638ValVAR_068623
119GAAp.Gly648AspVAR_068624
120GAAp.Arg702LeuVAR_068626rs398123172
121GAAp.Thr737AsnVAR_068629
122GAAp.Gln743LysVAR_068630
123GAAp.Trp746GlyVAR_068631
124GAAp.Trp746SerVAR_068632rs752921215
125GAAp.Arg819ProVAR_068633
126GAAp.Val916PheVAR_068634
127GAAp.Leu935ProVAR_068635
128GAAp.His568LeuVAR_070018
129GAAp.Tyr766CysVAR_070019rs144016984
130GAAp.Pro913ArgVAR_070020

Clinvar genetic disease variations for Glycogen Storage Disease Ii:

5 (show all 112)
id Gene Variation Type Significance SNP ID Assembly Location
1GAANM_000152.4(GAA): c.1004G> A (p.Gly335Glu)SNVPathogenicrs730880022GRCh37Chr 17, 78082137: 78082137
2GAANM_000152.4(GAA): c.2078dupA (p.Ala694Glyfs)duplicationPathogenicrs730880372GRCh37Chr 17, 78087054: 78087054
3GAANM_000152.4(GAA): c.896T> C (p.Leu299Pro)SNVPathogenicrs121907940GRCh37Chr 17, 78081636: 78081636
4GAANM_000152.4(GAA): c.1437G> A (p.Lys479=)SNVPathogenicrs796051877GRCh37Chr 17, 78083854: 78083854
5GAANM_000152.4(GAA): c.1933G> A (p.Asp645Asn)SNVLikely pathogenicrs368438393GRCh37Chr 17, 78086719: 78086719
6GAANM_000152.4(GAA): c.2014C> T (p.Arg672Trp)SNVLikely pathogenic, Pathogenicrs757111744GRCh38Chr 17, 80113001: 80113001
7GAANM_000152.4(GAA): c.1A> G (p.Met1Val)SNVLikely pathogenicrs786204467GRCh37Chr 17, 78078386: 78078386
8GAANM_000152.4(GAA): c.1843G> A (p.Gly615Arg)SNVLikely pathogenicrs549029029GRCh38Chr 17, 80112666: 80112666
9GAANM_000152.4(GAA): c.925G> A (p.Gly309Arg)SNVLikely pathogenicrs543300039GRCh37Chr 17, 78081665: 78081665
10GAANM_000152.4(GAA): c.784G> A (p.Glu262Lys)SNVLikely pathogenicrs201896815GRCh37Chr 17, 78081447: 78081447
11GAANM_000152.4(GAA): c.569G> A (p.Arg190His)SNVLikely pathogenicrs528367092GRCh38Chr 17, 80105771: 80105771
12GAANM_000152.4(GAA): c.1051delG (p.Val351Cysfs)deletionLikely pathogenic, Pathogenicrs786204507GRCh37Chr 17, 78082184: 78082184
13GAANM_000152.4(GAA): c.1156C> T (p.Gln386Ter)SNVLikely pathogenicrs786204517GRCh37Chr 17, 78082368: 78082368
14GAANM_000152.4(GAA): c.1411_1414delGAGA (p.Glu471Profs)deletionLikely pathogenicrs770276275GRCh37Chr 17, 78083828: 78083831
15GAANM_000152.4(GAA): c.766_785del20insC (p.Tyr256Argfs)indelLikely pathogenic, Pathogenicrs786204532GRCh37Chr 17, 78081429: 78081448
16GAANM_000152.4(GAA): c.1942G> A (p.Gly648Ser)SNVLikely pathogenicrs536906561GRCh37Chr 17, 78086728: 78086728
17GAANM_000152.4(GAA): c.172C> T (p.Gln58Ter)SNVLikely pathogenicrs201185475GRCh37Chr 17, 78078557: 78078557
18GAANM_000152.4(GAA): c.2140delC (p.His714Thrfs)deletionLikely pathogenic, Pathogenicrs786204549GRCh37Chr 17, 78087116: 78087116
19GAANM_000152.4(GAA): c.2646+2T> ASNVLikely pathogenicrs786204561GRCh37Chr 17, 78092158: 78092158
20GAANM_000152.4(GAA): c.1827delC (p.Tyr609Terfs)deletionLikely pathogenic, Pathogenicrs781088002GRCh37Chr 17, 78086449: 78086449
21GAANM_000152.4(GAA): c.343C> T (p.Gln115Ter)SNVLikely pathogenicrs786204614GRCh37Chr 17, 78078728: 78078728
22GAANM_000152.4(GAA): c.2024_2026delACA (p.Asn675del)deletionLikely pathogenicrs786204621GRCh37Chr 17, 78086810: 78086812
23GAANM_000152.4(GAA): c.1441T> C (p.Trp481Arg)SNVLikely pathogenicrs772883420GRCh37Chr 17, 78084529: 78084529
24GAANM_000152.4(GAA): c.2608C> T (p.Arg870Ter)SNVLikely pathogenicrs780321415GRCh37Chr 17, 78092118: 78092118
25GAANM_000152.4(GAA): c.1933G> C (p.Asp645His)SNVLikely pathogenicrs368438393GRCh38Chr 17, 80112920: 80112920
26GAANM_000152.4(GAA): c.1548G> A (p.Trp516Ter)SNVLikely pathogenic, Pathogenicrs140826989GRCh38Chr 17, 80110837: 80110837
27GAANM_000152.4(GAA): c.2104C> T (p.Arg702Cys)SNVLikely pathogenicrs786204645GRCh37Chr 17, 78087080: 78087080
28GAANM_000152.4(GAA): c.1128_1129delGGinsC (p.Trp376Cysfs)indelLikely pathogenic, Pathogenicrs786204646GRCh38Chr 17, 80108541: 80108542
29GAANM_000152.4(GAA): c.525_526delTG (p.Asn177Profs)deletionLikely pathogenicrs767882689GRCh38Chr 17, 80105111: 80105112
30GAANM_000152.4(GAA): c.365delT (p.Met122Argfs)deletionLikely pathogenicrs786204661GRCh38Chr 17, 80104951: 80104951
31GAANM_000152.4(GAA): c.655G> A (p.Gly219Arg)SNVLikely pathogenic, Pathogenicrs370950728GRCh37Chr 17, 78079656: 78079656
32GAANM_000152.4(GAA): c.1309C> T (p.Arg437Cys)SNVLikely pathogenicrs770610356GRCh37Chr 17, 78082610: 78082610
33GAANM_000152.4(GAA): c.1556T> C (p.Met519Thr)SNVLikely pathogenicrs786204720GRCh37Chr 17, 78084744: 78084744
34GAANM_000152.4(GAA): c.1826dupA (p.Tyr609Terfs)duplicationLikely pathogenicrs786204727GRCh37Chr 17, 78086448: 78086448
35GAANM_000152.4(GAA): c.1979G> A (p.Arg660His)SNVLikely pathogenic, Pathogenicrs374143224GRCh38Chr 17, 80112966: 80112966
36GAANM_000152.4(GAA): c.1438-1G> CSNVLikely pathogenicrs147804176GRCh38Chr 17, 80110726: 80110726
37GAANM_000152.4(GAA): c.670C> T (p.Arg224Trp)SNVLikely pathogenicrs757700700GRCh37Chr 17, 78079671: 78079671
38GAANM_000152.4(GAA): c.1802C> T (p.Ser601Leu)SNVPathogenicrs374470794GRCh37Chr 17, 78086424: 78086424
39GAANM_000152.4(GAA): c.2238G> C (p.Trp746Cys)SNVPathogenicrs1800312GRCh37Chr 17, 78090815: 78090815
40GAANM_000152.4(GAA): c.1655T> C (p.Leu552Pro)SNVPathogenicrs779556619GRCh37Chr 17, 78085800: 78085800
41GAANM_000152.4(GAA): c.1912G> T (p.Gly638Trp)SNVPathogenicrs757617999GRCh37Chr 17, 78086698: 78086698
42GAANM_000152.4(GAA): c.546G> A (p.Thr182=)SNVPathogenicrs143523371GRCh37Chr 17, 78078931: 78078931
43GAANM_000152.4(GAA): c.853C> T (p.Pro285Ser)SNVLikely pathogenicrs886042086GRCh37Chr 17, 78081516: 78081516
44GAANM_000152.4(GAA): c.546G> C (p.Thr182=)SNVPathogenicrs143523371GRCh37Chr 17, 78078931: 78078931
45GAANM_000152.4(GAA): c.934delC (p.Leu312Cysfs)deletionPathogenicrs886042358GRCh37Chr 17, 78081674: 78081674
46GAANM_000152.4(GAA): c.258dupC (p.Asn87Glnfs)duplicationPathogenicrs886042496GRCh37Chr 17, 78078643: 78078643
47GAANM_000152.4(GAA): c.1124G> T (p.Arg375Leu)SNVLikely pathogenic, Pathogenicrs142752477GRCh37Chr 17, 78082336: 78082336
48GAANM_000152.4(GAA): c.1064T> C (p.Leu355Pro)SNVPathogenicrs766074609GRCh37Chr 17, 78082197: 78082197
49GAANM_000152.4(GAA): c.2501_2502delCA (p.Thr834Argfs)deletionPathogenicrs886043343GRCh37Chr 17, 78092011: 78092012
50GAANM_000152.4(GAA): c.1754+1G> ASNVPathogenicrs886043399GRCh37Chr 17, 78085900: 78085900
51GAANM_000152.4(GAA): c.736delC (p.Leu246Phefs)deletionLikely pathogenic, Pathogenicrs886043920GRCh37Chr 17, 78081399: 78081399
52GAANM_000152.4(GAA): c.752C> T (p.Ser251Leu)SNVLikely pathogenicrs200856561GRCh38Chr 17, 80107616: 80107616
53GAANM_000152.4(GAA): c.761C> T (p.Ser254Leu)SNVLikely pathogenicrs577915581GRCh38Chr 17, 80107625: 80107625
54GAANM_000152.3(GAA): c.1636+460_2672deldeletionPathogenicGRCh37Chr 17, 78085284: 78092477
55GAANM_000152.4(GAA): c.2704_2716dupCAGAAGGTGACTG (p.Val906Alafs)duplicationPathogenicGRCh37Chr 17, 78092509: 78092521
56GAANM_000152.3: c.1194+2T> CSNVLikely pathogenicChr na, -1: -1
57GAANM_000152.3: c.169C> TSNVLikely pathogenicChr na, -1: -1
58GAANM_000152.3: c.1799G> ASNVLikely pathogenicChr na, -1: -1
59GAANM_000152.3: c.1856G> ASNVLikely pathogenicChr na, -1: -1
60GAANM_000152.3: c.2227C> TSNVLikely pathogenicChr na, -1: -1
61GAANM_000152.3: c.1076-2A> GSNVLikely pathogenicChr na, -1: -1
62GAANM_000152.3: c.2213G> ASNVLikely pathogenicChr na, -1: -1
63GAANM_000152.3: c.2214G> ASNVLikely pathogenicChr na, -1: -1
64GAANM_000152.3: c.2704C> TSNVLikely pathogenicChr na, -1: -1
65GAANM_000152.3: c.1143delCdeletionLikely pathogenicChr na, -1: -1
66GAANM_000152.3: c.2242G> TSNVLikely pathogenicChr na, -1: -1
67GAANM_000152.3: c.573C> ASNVLikely pathogenicChr na, -1: -1
68GAANM_000152.3: c.1076-22T> GSNVLikely pathogenicChr na, -1: -1
69GAANM_000152.3: c.1687C> TSNVLikely pathogenicChr na, -1: -1
70GAANM_000152.3: c.281_282delCTdeletionLikely pathogenicChr na, -1: -1
71GAANM_000152.3: c.1115A> TSNVLikely pathogenicChr na, -1: -1
72GAANM_000152.3: c.1192dupCduplicationLikely pathogenicChr na, -1: -1
73GAANM_000152.3: c.2185delCdeletionLikely pathogenicChr na, -1: -1
74GAANM_000152.3: c.875A> GSNVLikely pathogenicChr na, -1: -1
75GAANM_000152.3: c.546G> TSNVLikely pathogenicChr na, -1: -1
76GAANM_000152.3: c.2242delGdeletionLikely pathogenicChr na, -1: -1
77GAANM_000152.3: c.2242dupGduplicationLikely pathogenicChr na, -1: -1
78GAANM_000152.3: c.2495_2496delCAdeletionLikely pathogenicChr na, -1: -1
79GAANM_000152.3: c.1099delTdeletionLikely pathogenicChr na, -1: -1
80GAANM_000152.3: c.1824_1828dup5duplicationLikely pathogenicChr na, -1: -1
81GAANM_000152.3: c.2238G> ASNVLikely pathogenicChr na, -1: -1
82GAANM_000152.3: c.2281delGinsATindelLikely pathogenicChr na, -1: -1
83GAANM_000152.3: c.2040+1G> TSNVLikely pathogenicChr na, -1: -1
84GAANM_000152.3: c.2015G> ASNVLikely pathogenicChr na, -1: -1
85GAANM_000152.3: c.1832G> ASNVLikely pathogenicChr na, -1: -1
86GAANM_000152.3: c.1222A> GSNVLikely pathogenicChr na, -1: -1
87GAANM_000152.3: c.1564C> GSNVLikely pathogenicChr na, -1: -1
88GAANM_000152.3: c.2331+2T> ASNVPathogenicChr na, -1: -1
89GAANM_000152.3: c.236_246del11deletionPathogenicChr na, -1: -1
90GAANM_000152.3: c.1316T> ASNVLikely pathogenicChr na, -1: -1
91GAANM_000152.3: c.1567delTdeletionLikely pathogenicChr na, -1: -1
92GAANM_000152.3: c.1193delTdeletionLikely pathogenicChr na, -1: -1
93GAANM_000152.3: c.2815_2816delGTdeletionPathogenicChr na, -1: -1
94GAANM_000152.3: c.471delCdeletionLikely pathogenicChr na, -1: -1
95GAANM_000152.3: c.393delCdeletionLikely pathogenicChr na, -1: -1
96GAANM_000152.3: c.-32-3C> ASNVLikely pathogenicChr na, -1: -1
97GAANM_000152.4(GAA): c.1561G> A (p.Glu521Lys)SNVLikely pathogenic, Pathogenicrs121907937GRCh37Chr 17, 78084749: 78084749
98GAANM_000152.4(GAA): c.1927G> A (p.Gly643Arg)SNVPathogenicrs28937909GRCh37Chr 17, 78086713: 78086713
99GAANM_000152.4(GAA): c.2173C> T (p.Arg725Trp)SNVLikely pathogenic, Pathogenicrs121907938GRCh37Chr 17, 78087149: 78087149
100GAANM_000152.4(GAA): c.-32-13T> GSNVPathogenicrs386834236GRCh37Chr 17, 78078341: 78078341
101GAANM_000152.4(GAA): c.1935C> A (p.Asp645Glu)SNVPathogenicrs28940868GRCh37Chr 17, 78086721: 78086721
102GAANM_000152.4(GAA): c.2482_2646del165 (p.Gly828_Asn882del)deletionPathogenicGRCh37Chr 17, 78091992: 78092156
103GAANM_000152.4(GAA): c.525delT (p.Glu176Argfs)deletionPathogenicrs386834235GRCh37Chr 17, 78078910: 78078910
104GAANM_000152.4(GAA): c.2560C> T (p.Arg854Ter)SNVPathogenicrs121907943GRCh37Chr 17, 78092070: 78092070
105GAAGAA, IVS1AS, G-C, -1SNVPathogenicChr na, -1: -1
106GAANM_000152.4(GAA): c.1465G> A (p.Asp489Asn)SNVPathogenicrs398123169GRCh37Chr 17, 78084553: 78084553
107GAANM_000152.4(GAA): c.2012T> G (p.Met671Arg)SNVPathogenicrs398123170GRCh37Chr 17, 78086798: 78086798
108GAANM_000152.4(GAA): c.2066_2070dupAGCCG (p.Ala691Serfs)duplicationPathogenicrs398123171GRCh37Chr 17, 78087042: 78087046
109GAANM_000152.4(GAA): c.2105G> T (p.Arg702Leu)SNVLikely pathogenicrs398123172GRCh37Chr 17, 78087081: 78087081
110GAANM_000152.4(GAA): c.2512C> T (p.Gln838Ter)SNVPathogenicrs369532274GRCh37Chr 17, 78092022: 78092022
111GAANM_000152.4(GAA): c.2544delC (p.Lys849Argfs)deletionPathogenicrs398123173GRCh37Chr 17, 78092054: 78092054
112GAANM_000152.4(GAA): c.307T> G (p.Cys103Gly)SNVPathogenicrs398123174GRCh37Chr 17, 78078692: 78078692

Expression for genes affiliated with Glycogen Storage Disease Ii

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

Pathways for genes affiliated with Glycogen Storage Disease Ii

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GO Terms for genes affiliated with Glycogen Storage Disease Ii

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057649.6GAA, IDUA, LAMP2
2lysosomal membraneGO:00057659.5GAA, IGF2R, LAMP2
3lysosomal lumenGO:00432029.0GAA, GYG1, IDUA, LAMP2
4extracellular exosomeGO:00700626.5DNASE1L1, GAA, GANAB, GYG1, IDUA, IGF2R

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

idNameGO IDScoreTop Affiliating Genes
1glycogen metabolic processGO:00059779.8GAA, PRKAG2, PYGM
2cardiac muscle contractionGO:00600489.8DMD, GAA
3muscle cell cellular homeostasisGO:00467169.1DMD, GAA, LAMP2
4glycogen catabolic processGO:00059809.0GAA, GYG1, PYGM

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

idNameGO IDScoreTop Affiliating Genes
1AMP bindingGO:00162089.5PRKAG2, PYGM
2carbohydrate bindingGO:00302469.3GAA, GANAB, PYGM

Sources for Glycogen Storage Disease Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet