MCID: GLY013
MIFTS: 60

Glycogen Storage Disease malady

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

Aliases & Classifications for Glycogen Storage Disease

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Summaries for Glycogen Storage Disease

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NINDS:49 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, also known as glycogenoses, is related to glycogen storage disease iv and glycogen storage disease ia. An important gene associated with Glycogen Storage Disease is GAA (Glucosidase Alpha, Acid), and among its related pathways are Glycogen storage disease type XV (GYG1) and Myoclonic epilepsy of Lafora. Affiliated tissues include liver, heart and skeletal muscle, and related mouse phenotypes are Apoptosis resistance and Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation.

Disease Ontology:11 A glycogen metabolism disorder that has material basis in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Wikipedia:71 Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the... more...

Related Diseases for Glycogen Storage Disease

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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 Ixa Glycogen Storage Disease Viii
Glycogen Storage Disease Type 0

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

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease iv12.8
2glycogen storage disease ia12.7
3glycogen storage disease iiia12.7
4glycogen storage disease vi12.7
5glycogen storage disease ii12.7
6glycogen storage disease vii12.6
7glycogen storage disease x12.5
8glycogen storage disease 0, liver12.5
9glycogen storage disease ixc12.5
10glycogen storage disease xv12.5
11glycogen storage disease xiii12.5
12glycogen storage disease xii12.5
13glycogen storage disease ib12.5
14glycogen storage disease 0, muscle12.4
15glycogen storage disease ixa12.4
16glycogen storage disease, type ixa112.4
17glycogen storage disease type 012.4
18mcardle disease12.4
19glycogen storage disease ic12.3
20glycogen storage disease of heart, lethal congenital12.3
21fanconi-bickel syndrome12.3
22glycogen storage disease due to glucose-6-phosphatase deficiency12.2
23glycogen storage disease due to liver phosphorylase kinase deficiency12.2
24glycogen storage disease ix12.2
25glycogen storage disease due to glycogen branching enzyme deficiency12.2
26glycogen storage disease due to acid maltase deficiency, infantile onset12.2
27glycogen storage disease due to acid maltase deficiency, late-onset12.2
28muscle glycogenosis12.2
29danon disease12.1
30glycogen storage disease viii12.1
31phosphorylase kinase deficiency of liver and muscle, autosomal recessive12.1
32glycogen storage disease due to lactate dehydrogenase deficiency12.0
33phosphorylase kinase deficiency11.9
34phosphoglycerate mutase deficiency11.5
35phosphoglycerate kinase 1 deficiency11.3
36lactate dehydrogenase b deficiency11.3
37congenital disorder of glycosylation, type it11.2
38polyglucosan body myopathy 211.2
39hepatoblastoma11.2
40phka2-related phosphorylase kinase deficiency11.2
41phkb-related phosphorylase kinase deficiency11.2
42phkg2-related phosphorylase kinase deficiency11.2
43phka1-related phosphorylase kinase deficiency11.1
44hepatic adenoma, somatic10.9
45hyperchylomicronemia, late-onset10.9
46hydrops fetalis, nonimmune10.9
47macroglossia10.9
48lactate dehydrogenase deficiency10.9
49hepatitis10.5
50adenoma10.5

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



Diseases related to glycogen storage disease

Symptoms & Phenotypes for Glycogen Storage Disease

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00093-A-010.2G6PC, PFKM, PHKA2
2GR00016-A8.1GAA, PFKM, PHKA1, PHKA2, PHKB, PYGL
3GR00363-A6.7G6PC, GAA, GYG1, GYS1, GYS2, PFKM
4GR00381-A-14.5PFKM, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2

MGI Mouse Phenotypes related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8AGL, G6PC, GBE1, GYS1, GYS2, SLC37A4
2MP:00053697.8AGL, GAA, GBE1, GYS1, GYS2, PFKM
3MP:00053867.8AGL, G6PC, GAA, GBE1, GYS1, GYS2
4MP:00053767.2AGL, G6PC, GAA, GBE1, GYS1, GYS2

Drugs & Therapeutics for Glycogen Storage Disease

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

(show top 50)    (show all 114)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 4, Phase 11692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
MethotrexateapprovedPhase 415511959-05-2, 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
3
Bortezomibapproved, investigationalPhase 4807179324-69-7387447, 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 4293550-18-0, 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 4439259-30-36037
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
6
leucovorinapproved, NutraceuticalPhase 4323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
7Respiratory System AgentsPhase 4, Phase 1, Phase 24997
8Tocolytic AgentsPhase 4, Phase 1, Phase 2739
9Neurotransmitter AgentsPhase 4, Phase 1, Phase 2, Early Phase 118340
10Bronchodilator AgentsPhase 4, Phase 1, Phase 22965
11Gastrointestinal AgentsPhase 4, Phase 18402
12Peripheral Nervous System AgentsPhase 4, Phase 1, Phase 223689
13Hormone AntagonistsPhase 413180
14Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 413168
15IncretinsPhase 41579
16HormonesPhase 414415
17Autonomic AgentsPhase 4, Phase 1, Phase 210150
18AntimetabolitesPhase 4, Phase 212054
19glucagonPhase 4478
20Glucagon-Like Peptide 1Phase 4715
21Immunosuppressive AgentsPhase 4, Phase 113086
22Nucleic Acid Synthesis InhibitorsPhase 44962
23Folic Acid AntagonistsPhase 42257
24Anti-Asthmatic AgentsPhase 4, Phase 1, Phase 23488
25Dermatologic AgentsPhase 4, Phase 15806
26Antirheumatic AgentsPhase 4, Phase 110956
27Vitamin B ComplexPhase 44337
28Adrenergic beta-AgonistsPhase 4, Phase 1, Phase 21714
29AlbuterolPhase 4, Phase 1, Phase 2429
30Antimetabolites, AntineoplasticPhase 47361
31Adrenergic beta-2 Receptor AgonistsPhase 4, Phase 1, Phase 2957
32Adrenergic AgentsPhase 4, Phase 1, Phase 25352
33Adrenergic AgonistsPhase 4, Phase 1, Phase 23027
34Rho(D) Immune GlobulinPhase 4, Phase 1326
35ImmunoglobulinsPhase 4, Phase 16394
36Immunoglobulins, IntravenousPhase 4, Phase 1333
37gamma-GlobulinsPhase 4, Phase 1326
38AntibodiesPhase 4, Phase 16394
39Alkylating AgentsPhase 44827
40Antineoplastic Agents, AlkylatingPhase 44603
41Vitamin B9NutraceuticalPhase 44392
42FolateNutraceuticalPhase 44392
43Pharmaceutical SolutionsPhase 3, Phase 2, Phase 18192
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
FenofibrateapprovedPhase 217049562-28-93339
Synonyms:
2-(4-(4-Chlorobenzoyl)phenoxy)-2-methylpropanoic acid 1-methylethyl ester
49562-28-9
AB00052196
AC-4227
AC1L1FPK
AKOS005107777
AZU, Fenofibrat
AbZ Brand of Procetofen
Abbott Brand of Procetofen
Aliud Brand of Procetofen
Ankebin
Antara
Antara (TN)
Antara (micronized)
Antara Micronized Procetofen
Anto Brand of Procetofen
Apo Feno Micro
Apo Fenofibrate
Apo-Feno-Micro
Apo-Fenofibrate
Apotex Brand of Procetofen
Azupharma Brand of Procetofen
BIDD:GT0574
BPBio1_000166
BRD-K50388907-001-05-6
BRN 2062462
BSPBio_000150
BSPBio_003162
Bouchara Brand of Procetofen
C07586
C20H21ClO4
CAS-49562-28-9
CCRIS 7282
CHEBI:5001
CHEMBL672
CID3339
CIP-Fenofibrate
CPD000058299
Controlip
D00565
D011345
DB01039
Debat, Fenofibrate
DivK1c_000557
EINECS 256-376-3
EU-0100486
Elasterate
Elasterin
F 6020
F6020_SIGMA
FENOFIBRATE (MICRONIZED)
FNF
Fenobeta
Fenobrate
Fenofanton
Fenofibrat AL
Fenofibrat AZU
Fenofibrat AbZ
Fenofibrat FPh
Fenofibrat Heumann
Fenofibrat Hexal
Fenofibrat Stada
Fenofibrat ratiopharm
Fenofibrat-ratiopharm
Fenofibrate
Fenofibrate (JAN/INN)
Fenofibrate Debat
Fenofibrate IDD-P
Fenofibrate MSD
Fenofibrate [INN:BAN]
Fenofibrato
Fenofibrato [INN-Spanish]
Fenofibratum
Fenofibratum [INN-Latin]
Fenofibric acid
Fenogal
Fenoglide
Fenomax
Fenotard
Finofibrate
Fournier Brand of Procetofen
Fulcro
GNR Pharma Brand of Procetofen
GNR-Pharma Brand of Procetofen
GRS-027
Gate Brand of Procetofen
Gen Fenofibrate
Gen-Fenofibrate
Genpharm Brand of Procetofen
HMS1568H12
HMS1921B17
HMS2090G20
HMS2092B05
HMS501L19
Heumann Brand of Procetofen
Heumann, Fenofibrat
Hexal Brand of Procetofen
Hexal, Fenofibrat
I06-0048
IDI1_000557
Isopropyl (4'-(P-chlorobenzoyl)-2-phenoxy-2-methyl)propionate
Isopropyl 2-(4-(4-chlorobenzoyl)phenoxy)-2-methylpropionate
Isopropyl 2-(p-(p-chlorobenzoyl)phenoxy)-2-methylpropionate
KBio1_000557
KBio2_001730
KBio2_004298
KBio2_006866
KBio3_002382
KBioGR_000706
KBioSS_001730
Knoll Brand of Procetofen
LCP-Feno
LCP-FenoChol
LF 178
 
LF-178
LF178
LS-121256
Lichtenstein Brand of Procetofen
Lipanthyl
Lipantil
Lipantil (TN)
Liparison
Lipidex
Lipidil
Lipidil Micro
Lipidil Supra
Lipidil Ter
Lipidil-Ter
Lipifen
Lipirex
Lipoclar
Lipofen
Lipofen (TN)
Lipofene
Liposit
Lipsin
Lofibra
Lopac-F-6020
Lopac0_000486
Luxacor
MLS000028515
MLS001148191
MTW Brand of Procetofen
MTW Fenofibrat
MTW-Fenofibrat
Merck dura Brand of Procetofen
Micronized Procetofen, Antara
MolPort-002-887-051
NCGC00015437-01
NCGC00015437-02
NCGC00015437-03
NCGC00015437-06
NCGC00015437-12
NCGC00021475-03
NCGC00021475-04
NCGC00021475-05
NCGC00021475-06
NCGC00021475-07
NCGC00021475-08
NINDS_000557
NSC 281319
NSC281319
Nolipax
Novartis Brand of Procetofen
Novo Fenofibrate
Novo-Fenofibrate
Novopharm Brand of Procetofen
Nu Fenofibrate
Nu Pharm Brand of Procetofen
Nu-Fenofibrate
Nu-Pharm Brand of Procetofen
PMS Fenofibrate Micro
PMS-Fenofibrate Micro
Pharmascience Brand of Procetofen
Pharmavit
Phenofibrate
Prestwick0_000275
Prestwick1_000275
Prestwick2_000275
Prestwick3_000275
Prestwick_217
Procetofen
Procetofen Reliant Brand
Procetofen, Antara Micronized
Procetofene
Proctofene
Protolipan
Q Pharm Brand of Procetofen
Q-Pharm Brand of Procetofen
Reliant Brand of Procetofen
S1794_Selleck
SAM002264613
SMR000058299
SPBio_001380
SPBio_002369
SPECTRUM1501010
ST085313
Schering Plough Brand of Procetofen
Schering-Plough Brand of Procetofen
Secalip
Sedufen
Spectrum2_001390
Spectrum3_001431
Spectrum4_000413
Spectrum5_001479
Spectrum_001250
Stada, Fenofibrat
Stadapharm Brand of Procetofen
Supralip
TL8003296
TRICOR (MICRONIZED)
Tricor
Tricor (TN)
Triglide
Triglide (TN)
Trilipix
UNII-U202363UOS
United Drug Brand of Procetofen
ZINC00584092
betapharm Brand of Procetofen
ct Arzneimittel Brand of Procetofen
ct-Arzneimittel Brand of Procetofen
durafenat
fenofibrat von ct
fenofibrate
fenofibric acid
isopropyl 2-[4-(4-chlorobenzoyl)phenoxy]-2-methylpropanoate
nchembio790-comp24
ratiopharm Brand of Procetofen
46
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
47
Valproic Acidapproved, investigationalPhase 232799-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
48Lipid Regulating AgentsPhase 22766
49insulinPhase 24646
50Insulin, Globin ZincPhase 24645

Interventional clinical trials:

(show top 50)    (show all 124)
idNameStatusNCT IDPhase
1CPAP for Infantile Pompe DiseaseUnknown statusNCT02405624Phase 4
2High Dose or High Dose Frequency Study of Alglucosidase AlfaCompletedNCT00483379Phase 4
3Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
4An 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
5Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase AlfaCompletedNCT01288027Phase 4
6Evaluation of Salbutamol as an Adjuvant Therapy for Pompe DiseaseCompletedNCT02405598Phase 4
7Glucagon Efficiency After High and Low Carbohydrate DietCompletedNCT02578498Phase 4
8Pompe Lactation Sub-RegistryRecruitingNCT00566878Phase 4
9Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe DiseaseRecruitingNCT01410890Phase 4
10Pompe Pregnancy Sub-RegistryRecruitingNCT00567073Phase 4
11Immune Tolerance Induction StudyRecruitingNCT00701701Phase 4
12Immune Modulation Therapy for Pompe DiseaseRecruitingNCT02525172Phase 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
20Study 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
21NeoGAA Extension StudyEnrolling by invitationNCT02032524Phase 2, Phase 3
22BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)TerminatedNCT01924845Phase 3
23A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type IICompletedNCT00051935Phase 2
24rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)CompletedNCT00053573Phase 1, Phase 2
25Extension 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
26Extension 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
27A Study of rhGAA in Patients With Late-Onset Pompe DiseaseCompletedNCT00250939Phase 2
28Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body DiseaseCompletedNCT00947960Phase 2
29Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe DiseaseCompletedNCT00976352Phase 1, Phase 2
30Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe DiseaseCompletedNCT00025896Phase 2
31Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement TherapyCompletedNCT01942590Phase 1, Phase 2
32Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement TherapyCompletedNCT01885936Phase 1, Phase 2
33Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe DiseaseCompletedNCT01230801Phase 1, Phase 2
34Drug-drug Interaction StudyCompletedNCT01380743Phase 2
35Substrate Cycling in Energy MetabolismCompletedNCT00361751Phase 2
36Effectiveness of Oral Insulin in Unstable Type 1 Diabetes PatientsCompletedNCT00867594Phase 2
37The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)RecruitingNCT02432768Phase 2
38VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe DiseaseRecruitingNCT02898753Phase 1, Phase 2
39Sodium Valproate for GSDVActive, not recruitingNCT03112889Phase 2
40First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221Active, not recruitingNCT02675465Phase 1, Phase 2
41Extension Study for Patients Who Have Participated in a BMN 701 StudyActive, not recruitingNCT01435772Phase 2
42Triheptanoin in Mc ArdleNot yet recruitingNCT02919631Phase 2
43A 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
44Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)Not yet recruitingNCT03181399Phase 2
45Study to Evaluate the Safety of AT2220 in Pompe DiseaseTerminatedNCT00688597Phase 2
46A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)TerminatedNCT02191917Phase 2
47High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe DiseaseWithdrawnNCT01656590Phase 2
48Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.CompletedNCT01898364Phase 1
49Albuterol in Individuals With Late Onset Pompe Disease (LOPD)CompletedNCT01859624Phase 1
50A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionRecruitingNCT02185651Phase 1

Search NIH Clinical Center for Glycogen Storage Disease


Cochrane evidence based reviews: glycogen storage disease

Genetic Tests for Glycogen Storage Disease

About this section

Genetic tests related to Glycogen Storage Disease:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease27 24

Anatomical Context for Glycogen Storage Disease

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MalaCards organs/tissues related to Glycogen Storage Disease:

36
Liver, Heart, Skeletal muscle, Neutrophil, Bone, Kidney, Testes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Glycogen Storage Disease:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Publications for Glycogen Storage Disease

About this section

Articles related to Glycogen Storage Disease:

(show top 50)    (show all 832)
idTitleAuthorsYear
1
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. (28224773)
2017
2
Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration. (27864142)
2017
3
Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia. (28085675)
2017
4
Glycogen Storage Disease Because of a PRKAG2 Mutation Causing Severe Biventricular Hypertrophy and High-Grade Atrio-Ventricular Block. (27496753)
2016
5
A pediatric patient with glycogen storage disease type IA and Castleman disease. (28035790)
2016
6
Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. (27900094)
2016
7
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. (26984562)
2016
8
Evaluation of central nervous system in patients with glycogen storage disease type 1a. (27922231)
2016
9
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle. (27546458)
2016
10
In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA. (26865405)
2016
11
A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. (27592162)
2016
12
Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease). (27384519)
2016
13
Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b. (27066451)
2016
14
A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV. (27344645)
2016
15
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. (27106217)
2016
16
Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy. (27832700)
2016
17
FDG PET/CT in Type I Glycogen Storage Disease. (26704733)
2016
18
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III. (27460348)
2016
19
Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V. (27273923)
2016
20
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. (26913919)
2016
21
A novel GBE1 Gene variant in a child with glycogen storage disease type IV. (27107456)
2016
22
Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia. (27511118)
2016
23
Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder. (27974893)
2016
24
Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review. (27139513)
2016
25
Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV. (27747161)
2016
26
Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV). (27442143)
2016
27
Natural Progression of Canine Glycogen Storage Disease Type IIIa. (26884409)
2016
28
Progressive development of renal cysts in glycogen storage disease type I. (27436577)
2016
29
Embryonal Hepatoblastoma with Co-existent Glycogen Storage Disease in a Seven-month-old Child. (27042474)
2016
30
A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. (26885414)
2016
31
Acute ischemic stroke revealing late-onset glycogen storage disease. (28038773)
2016
32
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. (27103379)
2016
33
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M. (27612597)
2016
34
Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis. (26924264)
2016
35
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. (26219379)
2015
36
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. (26166723)
2015
37
High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia. (26093626)
2015
38
Malignant Transformation of Hepatic Adenoma in Glycogen Storage Disease Type-1a: Report of an Exceptional Case Diagnosed on Surveillance Imaging. (26430540)
2015
39
Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease. (26697579)
2015
40
Glycogen storage disease type III: The phenotype branches out. (25832667)
2015
41
Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: A congenital disorder of glycosylation mimicking glycogen storage disease. (25681648)
2015
42
Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II]. (26575883)
2015
43
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective italian study. (25641239)
2015
44
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. (25602008)
2015
45
Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia. (24980439)
2015
46
Skeletal and cardiac muscle involvement in children with glycogen storage disease type III. (25948107)
2015
47
Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease. (26526422)
2015
48
Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey. (25451950)
2015
49
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. (26303612)
2015
50
A case of perioperative glucose control by using an artificial pancreas in a patient with glycogen storage disease. (26194122)
2015

Variations for Glycogen Storage Disease

About this section

Copy number variations for Glycogen Storage Disease from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
169951125660000058100000Copy numberPFKMGlycogen storage disease
2100159162996120429975150DeletionALDOAGlycogen storage disease

Expression for genes affiliated with Glycogen Storage Disease

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

Pathways for genes affiliated with Glycogen Storage Disease

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

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3GYG1, GYS1
2
Show member pathways
9.0GYG1, GYS1, GYS2
3
Show member pathways
9.0GYG1, GYS1, GYS2
4
Show member pathways
8.9PHKA1, PHKA2, PHKB, PHKG2
5
Show member pathways
8.2GYS1, GYS2, PFKM, PRKAG2
6
Show member pathways
8.1G6PC, GYS1, GYS2, PRKAG2, PYGL, PYGM
7
Show member pathways
8.0G6PC, GYS1, GYS2, PFKM, PRKAG2
8
Show member pathways
7.7GYS1, GYS2, PHKA1, PHKA2, PHKB, PHKG2
9
Show member pathways
7.7G6PC, GYG1, GYS1, GYS2, PFKM, PRKAG2
10
Show member pathways
7.2GYS1, GYS2, PHKA1, PHKA2, PHKB, PHKG2
11
Show member pathways
6.8AGL, G6PC, GAA, GBE1, GYG1, GYS1
126.5G6PC, GYS1, GYS2, PHKA1, PHKA2, PHKB
13
Show member pathways
6.5G6PC, GYS1, GYS2, PHKA1, PHKA2, PHKB
146.3AGL, GBE1, GYG1, GYS1, GYS2, PHKA1
15
Show member pathways
4.7AGL, G6PC, GAA, GBE1, GYG1, GYS1
16
Show member pathways
4.7AGL, G6PC, GAA, GBE1, GYG1, GYS1
17
Show member pathways
4.3AGL, G6PC, GAA, GBE1, GYG1, GYS1

GO Terms for genes affiliated with Glycogen Storage Disease

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

idNameGO IDScoreTop Affiliating Genes
1ficolin-1-rich granule lumenGO:190481310.2AGL, GYG1, PYGL
2inclusion bodyGO:001623410.0AGL, GYS1
3secretory granule lumenGO:00347749.6AGL, GYG1, PYGL
4phosphorylase kinase complexGO:00059649.4PHKA1, PHKA2, PHKB, PHKG2
5cytosolGO:00058295.9AGL, GBE1, GYG1, GYS1, GYS2, PFKM

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1glucose transportGO:001575810.5G6PC, SLC37A4
2glucose-6-phosphate transportGO:001576010.5G6PC, SLC37A4
3muscle cell cellular homeostasisGO:004671610.3GAA, PFKM
4neutrophil degranulationGO:004331210.1AGL, GAA, GYG1, PYGL
5glucose homeostasisGO:004259310.1G6PC, PFKM, PYGL
6generation of precursor metabolites and energyGO:00060919.0GBE1, GYS2, PHKA1, PHKA2, PHKB, PHKG2
7glycogen biosynthetic processGO:00059788.8AGL, GBE1, GYG1, GYS1, GYS2, PHKG2
8protein phosphorylationGO:00064688.4PHKA1, PHKA2, PHKB, PHKG2, PRKAG2
9metabolic processGO:00081528.4AGL, GAA, GYS1, GYS2, PFKM, PYGL
10carbohydrate metabolic processGO:00059758.3AGL, GAA, GBE1, PHKA1, PHKA2, PHKB
11glycogen catabolic processGO:00059807.4AGL, G6PC, GAA, GYG1, PFKM, PHKA1
12glycogen metabolic processGO:00059776.8AGL, G6PC, GAA, GBE1, GYS1, PHKA1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1hydrolase activity, hydrolyzing O-glycosyl compoundsGO:000455310.7GAA, GBE1
2glycogen phosphorylase activityGO:000818410.7PYGL, PYGM
3phosphorylase activityGO:000464510.7PYGL, PYGM
4AMP bindingGO:001620810.5PRKAG2, PYGL
5carbohydrate bindingGO:003024610.2AGL, GAA, GBE1, PYGL
6glucose bindingGO:000553610.1GYS1, PYGL
7glycogen (starch) synthase activityGO:000437310.1GYS1, GYS2
8glycogen synthase activity, transferring glucose-1-phosphateGO:006154710.1GYS1, GYS2
9catalytic activityGO:00038249.8GAA, PFKM, PYGL, PYGM
10calmodulin bindingGO:00055169.6PHKA1, PHKA2, PHKB, PHKG2
11phosphorylase kinase activityGO:00046899.6PHKA1, PHKA2, PHKB, PHKG2
12transferase activity, transferring glycosyl groupsGO:00167577.9AGL, GBE1, GYG1, GYS1, GYS2, PYGL
13transferase activityGO:00167407.5AGL, GBE1, GYG1, GYS1, GYS2, PFKM

Sources for Glycogen Storage Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet