MCID: GLY007
MIFTS: 51

Glycogen Storage Disease Iv malady

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

Aliases & Classifications for Glycogen Storage Disease Iv

About this section

Aliases & Descriptions for Glycogen Storage Disease Iv:

Name: Glycogen Storage Disease Iv 50 11 22 24 13 68 12
Glycogen Storage Disease Type Iv 22 23 24 48 37 66
Glycogen Branching Enzyme Deficiency 22 46 23 24 68
Andersen Disease 22 46 23 24 68
Gsd Iv 22 46 23 24 68
Amylopectinosis 11 46 24 68
Glycogen Storage Disease Type 4 46 24
Glycogen Storage Disease 4 68 25
Brancher Deficiency 46 24
Glycogenosis Iv 22 68
Glycogenosis 4 46 24
Gsd4 24 68
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 52
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 52
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 52
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 52
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 52
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 52
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 52
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 52
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 52
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 52
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 52
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 52
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 52
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 52
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 52
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 52
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form 52
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form 52
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 52
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 52
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 52
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 52
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 52
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form 52
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form 52
Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form 52
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form 52
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form 52
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form 52
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form 52
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form 52
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form 52
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form 52
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form 52
Glycogen Storage Disease Type Iv, Progressive Hepatic Form 52
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form 52
Glycogen Storage Disease Type 4, Adult Neuromuscular Form 52
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form 52
 
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 46
Glycogen Storage Disease Type 4, Progressive Hepatic Form 52
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form 52
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form 52
Gsdiv, Childhood Combined Hepatic and Myopathic Form 52
Glycogenosis Type Iv, Congenital Neuromuscular Form 52
Gbe Deficiency, Fatal Perinatal Neuromuscular Form 52
Glycogenosis Type Iv, Non Progressive Hepatic Form 52
Glycogenosis Type 4, Congenital Neuromuscular Form 52
Glycogenosis Type Iv, Childhood Neuromuscular Form 52
Glycogenosis Type 4, Childhood Neuromuscular Form 52
Glycogenosis Type 4, Non Progressive Hepatic Form 52
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 11
Gsd Type 4, Fatal Perinatal Neuromuscular Form 52
Glycogenosis Type Iv, Adult Neuromuscular Form 52
Glycogenosis Type Iv, Progressive Hepatic Form 52
Glycogenosis Type 4, Adult Neuromuscular Form 52
Branching-Transferase Deficiency Glycogenosis 11
Gbe Deficiency, Congenital Neuromuscular Form 52
Glycogenosis Type 4, Progressive Hepatic Form 52
Gbe Deficiency, Non Progressive Hepatic Form 52
Gbe Deficiency, Childhood Neuromuscular Form 52
Gsd Type 4, Congenital Neuromuscular Form 52
Gsdiv, Fatal Perinatal Neuromuscular Form 52
Gbe Deficiency, Adult Neuromuscular Form 52
Gbe Deficiency, Progressive Hepatic Form 52
Gsd Type 4, Childhood Neuromuscular Form 52
Gsd Type 4, Non Progressive Hepatic Form 52
Gsd Type 4, Adult Neuromuscular Form 52
Gsdiv, Congenital Neuromuscular Form 52
Gsd Type 4, Progressive Hepatic Form 52
Gsdiv, Childhood Neuromuscular Form 52
Gsdiv, Non Progressive Hepatic Form 52
Glycogen Storage Disease, Type Iv 11
Brancher Deficiency Glycogenosis 11
Gsdiv, Adult Neuromuscular Form 52
Gsdiv, Progressive Hepatic Form 52
Branching Enzyme Deficiency 24
Glycogen Branching Enzyme 12
Glycogenosis, Type Iv 24
Andersen Glycogenosis 24
Glycogenosis Type Iv 23
Type Iv Glycogenosis 24
Andersen's Disease 24
Gbe1 Deficiency 68
Gsd Type Iv 24
Gsd-Iv 68
Gsd 4 46
Gsdiv 23

Characteristics:

HPO:

62
glycogen storage disease iv:
Inheritance: autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Iv

About this section
NIH Rare Diseases:46 Glycogen storage disease type 4 (gsd 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. symptoms of gsd 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. in rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. gsd 4 is caused by mutations in the gbe1 gene and is inherited in an autosomal recessive manner. treatment typically focuses on the specific symptoms that are present in each individual. last updated: 12/23/2012

MalaCards based summary: Glycogen Storage Disease Iv, also known as glycogen storage disease type iv, is related to glycogen storage disease vi and polyglucosan body myopathy 1 with or without immunodeficiency, and has symptoms including hepatosplenomegaly, hepatosplenomegaly and muscle weakness. An important gene associated with Glycogen Storage Disease Iv is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1), and among its related pathways are Galactose metabolism and Glycosaminoglycan metabolism. Affiliated tissues include liver, spleen and skeletal muscle.

UniProtKB/Swiss-Prot:68 Glycogen storage disease 4: A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity.

Genetics Home Reference:24 Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.

Description from OMIM:50 232500

GeneReviews summary for NBK115333

Related Diseases for Glycogen Storage Disease Iv

About this section

Graphical network of diseases related to Glycogen Storage Disease Iv:



Diseases related to glycogen storage disease iv

Symptoms for Glycogen Storage Disease Iv

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Symptoms by clinical synopsis from OMIM:

232500

Clinical features from OMIM:

232500

HPO human phenotypes related to Glycogen Storage Disease Iv:

(show all 18)
id Description Frequency HPO Source Accession
1 edema HP:0000969
2 muscular hypotonia HP:0001252
3 reduced tendon reflexes HP:0001315
4 muscle weakness HP:0001324
5 cirrhosis HP:0001394
6 hepatic failure HP:0001399
7 portal hypertension HP:0001409
8 hepatosplenomegaly HP:0001433
9 failure to thrive HP:0001508
10 ascites HP:0001541
11 decreased fetal movement HP:0001558
12 polyhydramnios HP:0001561
13 cardiomyopathy HP:0001638
14 hydrops fetalis HP:0001789
15 esophageal varix HP:0002040
16 arthrogryposis multiplex congenita HP:0002804
17 skeletal muscle atrophy HP:0003202
18 tubulointerstitial fibrosis HP:0005576

UMLS symptoms related to Glycogen Storage Disease Iv:


hepatosplenomegaly, muscle weakness

Drugs & Therapeutics for Glycogen Storage Disease Iv

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1glucagonPhase 4441
2
rituximabPhase 41611174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
3
MethotrexatePhase 414961959-05-2, 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
4
BortezomibPhase 4783179324-69-7387447, 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
5
CyclophosphamidePhase 4275650-18-0, 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
6Alkylating AgentsPhase 44573
7FolateNutraceuticalPhase 44143
8
Folic AcidNutraceuticalPhase 4414359-30-36037
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
9
MiglustatPhase 12172599-27-051634
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
10
1-DeoxynojirimycinPhase 12319130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI
11Pyridostigmine BromidePhase 024101-26-8
12
AcetylcholinePhase 075251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride

Interventional clinical trials:

(show all 41)
idNameStatusNCT IDPhase
1Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase AlfaCompletedNCT01288027Phase 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
3Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
4High Dose or High Dose Frequency Study of Alglucosidase AlfaCompletedNCT00483379Phase 4
5Evaluation of Salbutamol as an Adjuvant Therapy for Pompe DiseaseCompletedNCT02405598Phase 4
6Glucagon Efficiency After High and Low Carbohydrate DietCompletedNCT02578498Phase 4
7Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe DiseaseRecruitingNCT01410890Phase 4
8Immune Tolerance Induction StudyRecruitingNCT00701701Phase 4
9Pompe Pregnancy Sub-RegistryRecruitingNCT00567073Phase 4
10Pompe Lactation Sub-RegistryRecruitingNCT00566878Phase 4
11CPAP for Infantile Pompe DiseaseRecruitingNCT02405624Phase 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 Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe DiseaseCompletedNCT00158600Phase 3
17NeoGAA Extension StudyRecruitingNCT02032524Phase 2, Phase 3
18BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)RecruitingNCT01924845Phase 3
19Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body DiseaseCompletedNCT00947960Phase 2
20Drug-drug Interaction StudyCompletedNCT01380743Phase 2
21Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe DiseaseCompletedNCT00976352Phase 1, Phase 2
22Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe DiseaseCompletedNCT01230801Phase 1, Phase 2
23Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement TherapyActive, not recruitingNCT01885936Phase 1, Phase 2
24Extension Study for Patients Who Have Participated in a BMN 701 StudyActive, not recruitingNCT01435772Phase 2
25VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe DiseaseNot yet recruitingNCT02898753Phase 1, Phase 2
26Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.CompletedNCT01898364Phase 1
27Albuterol in Individuals With Late Onset Pompe Disease (LOPD)CompletedNCT01859624Phase 1
28A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionNot yet recruitingNCT02185651Phase 1
29A Clinical Study to Assess the Effects of SRT2104 Upon Immobilization-Induced Skeletal Muscle Atrophy in Healthy Human VolunteersWithdrawnNCT01039909Phase 1
30Alglucosidase Alfa Temporary Access ProgramApproved for marketingNCT00520143
31Glycogen Storage Disease Type IV DatabaseRecruitingNCT02683512
32Biomarker for Glycogen Storage DiseasesRecruitingNCT02385162
33Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
34Energy Supplements to Improve Exercise Tolerance in Metabolic MyopathiesRecruitingNCT02448667
35Prospective Follow-up of Patients With Glycogen Storage Disease Type IIIRecruitingNCT01563705
36Investigating Pompe Prevalence in Neuromuscular Medicine Academic PracticesRecruitingNCT02838368
37Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.RecruitingNCT02654886
38A Pilot Study of Pyridostigmine in Pompe DiseaseRecruitingNCT02357225Phase 0
39Alglucosidase Alfa Pompe Safety Sub-RegistryRecruitingNCT01710813
40Diet and Exercise in Pompe DiseaseNot yet recruitingNCT02363153Phase 0
41Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emiaNot yet recruitingNCT01482494

Search NIH Clinical Center for Glycogen Storage Disease Iv


Cochrane evidence based reviews: glycogen storage disease type iv

Genetic Tests for Glycogen Storage Disease Iv

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Genetic tests related to Glycogen Storage Disease Iv:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Iv25
2 Glycogen Storage Disease Type Iv23 GBE1

Anatomical Context for Glycogen Storage Disease Iv

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MalaCards organs/tissues related to Glycogen Storage Disease Iv:

34
Liver, Spleen, Skeletal muscle

Animal Models for Glycogen Storage Disease Iv or affiliated genes

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Publications for Glycogen Storage Disease Iv

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Articles related to Glycogen Storage Disease Iv:

idTitleAuthorsYear
1
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. (21075835)
2011
2
Anesthetic management in a child with Glycogen Storage Disease IV. (20519014)
2010
3
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. (15366377)
2004
4
Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. (14970703)
2003
5
Studies in glycogen storage disease. IV. Leukocyte phosphorylase in a family with type VI GSD. (4313495)
1970

Variations for Glycogen Storage Disease Iv

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

68
id Symbol AA change Variation ID SNP ID
1GBE1p.Leu224ProVAR_022429rs137852886
2GBE1p.Phe257LeuVAR_022430rs137852887
3GBE1p.Tyr329SerVAR_022431rs80338671
4GBE1p.Arg515CysVAR_022432rs80338672
5GBE1p.Arg524GlnVAR_022434rs80338673
6GBE1p.His545ArgVAR_022435rs137852889
7GBE1p.His628ArgVAR_022436rs137852891

Clinvar genetic disease variations for Glycogen Storage Disease Iv:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1GBE1NM_000158.3(GBE1): c.691+2T> Csingle nucleotide variantPathogenicrs192044702GRCh37Chr 3, 81698005: 81698005
2GBE1NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser)single nucleotide variantPathogenicrs80338671GRCh37Chr 3, 81691938: 81691938
3GBE1NM_000158.3(GBE1): c.671T> C (p.Leu224Pro)single nucleotide variantPathogenicrs137852886GRCh37Chr 3, 81698027: 81698027
4GBE1NM_000158.3(GBE1): c.1543C> T (p.Arg515Cys)single nucleotide variantPathogenicrs80338672GRCh37Chr 3, 81627151: 81627151
5GBE1NM_000158.3(GBE1): c.771T> A (p.Phe257Leu)single nucleotide variantPathogenicrs137852887GRCh37Chr 3, 81695554: 81695554
6GBE1NM_000158.3(GBE1): c.1570C> T (p.Arg524Ter)single nucleotide variantPathogenicrs137852888GRCh37Chr 3, 81627124: 81627124
7GBE1NM_000158.3(GBE1): c.1571G> A (p.Arg524Gln)single nucleotide variantPathogenicrs80338673GRCh37Chr 3, 81627123: 81627123
8GBE1NM_000158.3(GBE1): c.993-?_1618+?deldeletionPathogenicGRCh37Chr 3, 81586246: 81691932
9GBE1NM_000158.3(GBE1): c.143+1G> Asingle nucleotide variantPathogenicrs397515343GRCh37Chr 3, 81810525: 81810525
10GBE1NM_000158.3(GBE1): c.1634A> G (p.His545Arg)single nucleotide variantPathogenicrs137852889GRCh37Chr 3, 81586231: 81586231
11GBE1NM_000158.3(GBE1): c.1774G> T (p.Glu592Ter)single nucleotide variantPathogenicrs137852890GRCh37Chr 3, 81586091: 81586091
12GBE1NM_000158.3(GBE1): c.1883A> G (p.His628Arg)single nucleotide variantPathogenicrs137852891GRCh37Chr 3, 81584397: 81584397
13GBE1NM_000158.3(GBE1): c.691+5G> Csingle nucleotide variantPathogenicrs397515344GRCh37Chr 3, 81698002: 81698002
14GBE1NM_000158.3(GBE1): c.1643G> A (p.Trp548Ter)single nucleotide variantPathogenicrs137852894GRCh37Chr 3, 81586222: 81586222
15c.[708G> C]+[784C> T]undetermined variantPathogenic
16c.[c.38dupA]+[1571G> A]duplicationPathogenic

Expression for genes affiliated with Glycogen Storage Disease Iv

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

Pathways for genes affiliated with Glycogen Storage Disease Iv

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5G6PC, GAA
2
Show member pathways
9.1G6PC, GAA, GBE1
3
Show member pathways
9.1G6PC, GAA, GBE1
4
Show member pathways
9.1G6PC, GAA, GBE1

GO Terms for genes affiliated with Glycogen Storage Disease Iv

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

idNameGO IDScoreTop Affiliating Genes
1LUBAC complexGO:00717979.0RBCK1, RNF31

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glycogen catabolic processGO:00059809.8G6PC, GAA
2glycogen metabolic processGO:00059779.7G6PC, GAA, GBE1
3protein linear polyubiquitinationGO:00970399.6RBCK1, RNF31
4I-kappaB kinase/NF-kappaB signalingGO:00072499.4RBCK1, RNF31
5regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.1RBCK1, RNF31
6positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.0RBCK1, RNF31
7protein polyubiquitinationGO:00002099.0RBCK1, RNF31
8T cell receptor signaling pathwayGO:00508528.9RBCK1, RNF31
9positive regulation of NF-kappaB transcription factor activityGO:00510928.7RBCK1, RNF31

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin bindingGO:00431309.0RBCK1, RNF31

Sources for Glycogen Storage Disease Iv

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet