MCID: GLY007
MIFTS: 52

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 51 11 23 25 69 12 13
Glycogen Storage Disease Type Iv 23 24 25 49 38 67
Glycogen Branching Enzyme Deficiency 23 47 24 25 69
Andersen Disease 23 47 24 25 69
Gsd Iv 23 47 24 25 69
Amylopectinosis 11 47 25 69
Glycogen Storage Disease Type 4 47 25
Glycogen Storage Disease 4 69 26
Brancher Deficiency 47 25
Glycogenosis Iv 23 69
Glycogenosis 4 47 25
Gsd4 25 69
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 53
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 53
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 53
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 53
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 53
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 53
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 53
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 53
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 53
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 53
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 53
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 53
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 53
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 53
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 53
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 53
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form 53
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 53
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form 53
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 53
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 53
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 53
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 53
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form 53
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form 53
Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form 53
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form 53
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form 53
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form 53
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form 53
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form 53
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form 53
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form 53
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form 53
Glycogen Storage Disease Type Iv, Progressive Hepatic Form 53
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form 53
Glycogen Storage Disease Type 4, Adult Neuromuscular Form 53
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form 53
 
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 47
Glycogen Storage Disease Type 4, Progressive Hepatic Form 53
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form 53
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form 53
Gsdiv, Childhood Combined Hepatic and Myopathic Form 53
Glycogenosis Type Iv, Congenital Neuromuscular Form 53
Gbe Deficiency, Fatal Perinatal Neuromuscular Form 53
Glycogenosis Type Iv, Non Progressive Hepatic Form 53
Glycogenosis Type 4, Congenital Neuromuscular Form 53
Glycogenosis Type Iv, Childhood Neuromuscular Form 53
Glycogenosis Type 4, Childhood Neuromuscular Form 53
Glycogenosis Type 4, Non Progressive Hepatic Form 53
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 11
Gsd Type 4, Fatal Perinatal Neuromuscular Form 53
Glycogenosis Type Iv, Adult Neuromuscular Form 53
Glycogenosis Type Iv, Progressive Hepatic Form 53
Glycogenosis Type 4, Adult Neuromuscular Form 53
Branching-Transferase Deficiency Glycogenosis 11
Glycogenosis Type 4, Progressive Hepatic Form 53
Gbe Deficiency, Congenital Neuromuscular Form 53
Gbe Deficiency, Non Progressive Hepatic Form 53
Gbe Deficiency, Childhood Neuromuscular Form 53
Gsd Type 4, Congenital Neuromuscular Form 53
Gsdiv, Fatal Perinatal Neuromuscular Form 53
Gbe Deficiency, Adult Neuromuscular Form 53
Gbe Deficiency, Progressive Hepatic Form 53
Gsd Type 4, Childhood Neuromuscular Form 53
Gsd Type 4, Non Progressive Hepatic Form 53
Gsd Type 4, Adult Neuromuscular Form 53
Gsdiv, Congenital Neuromuscular Form 53
Gsd Type 4, Progressive Hepatic Form 53
Gsdiv, Childhood Neuromuscular Form 53
Gsdiv, Non Progressive Hepatic Form 53
Glycogen Storage Disease, Type Iv 11
Brancher Deficiency Glycogenosis 11
Gsdiv, Adult Neuromuscular Form 53
Gsdiv, Progressive Hepatic Form 53
Branching Enzyme Deficiency 25
Glycogen Branching Enzyme 12
Glycogenosis, Type Iv 25
Andersen Glycogenosis 25
Glycogenosis Type Iv 24
Type Iv Glycogenosis 25
Andersen's Disease 25
Gbe1 Deficiency 69
Gsd Type Iv 25
Gsd-Iv 69
Gsd 4 47
Gsdiv 24

Characteristics:

HPO:

63
glycogen storage disease iv:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: penetrance for gsd iv is complete in those with biallelic pathogenic variants but shows extensive clinical variability between families and may show age-related progression of symptoms over time...


Classifications:



Summaries for Glycogen Storage Disease Iv

About this section
NIH Rare Diseases:47 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 hydrops fetalis, nonimmune and glycogen storage disease vi, and has symptoms including muscle weakness, muscle weakness and hepatosplenomegaly. 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.

Genetics Home Reference:25 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.

UniProtKB/Swiss-Prot:69 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.

Description from OMIM:51 232500

GeneReviews 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

About this section

Symptoms by clinical synopsis from OMIM:

232500

Clinical features from OMIM:

232500

Human phenotypes related to Glycogen Storage Disease Iv:

 63 (show all 18)
id Description HPO Frequency HPO Source Accession
1 edema63 HP:0000969
2 muscular hypotonia63 HP:0001252
3 reduced tendon reflexes63 HP:0001315
4 muscle weakness63 HP:0001324
5 cirrhosis63 HP:0001394
6 hepatic failure63 HP:0001399
7 portal hypertension63 HP:0001409
8 hepatosplenomegaly63 HP:0001433
9 failure to thrive63 HP:0001508
10 ascites63 HP:0001541
11 decreased fetal movement63 HP:0001558
12 polyhydramnios63 HP:0001561
13 cardiomyopathy63 HP:0001638
14 hydrops fetalis63 HP:0001789
15 esophageal varix63 HP:0002040
16 arthrogryposis multiplex congenita63 HP:0002804
17 skeletal muscle atrophy63 HP:0003202
18 tubulointerstitial fibrosis63 HP:0005576

UMLS symptoms related to Glycogen Storage Disease Iv:


muscle weakness, hepatosplenomegaly

Drugs & Therapeutics for Glycogen Storage Disease Iv

About this section

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

(show top 50)    (show all 59)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 41654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
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
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
6Tocolytic AgentsPhase 4, Phase 1, Phase 2708
7Respiratory System AgentsPhase 4, Phase 1, Phase 24818
8Neurotransmitter AgentsPhase 4, Phase 1, Phase 2, Early Phase 117734
9Autonomic AgentsPhase 4, Phase 1, Phase 29774
10Bronchodilator AgentsPhase 4, Phase 1, Phase 22856
11Gastrointestinal AgentsPhase 48109
12Peripheral Nervous System AgentsPhase 4, Phase 1, Phase 222776
13glucagonPhase 4462
14Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
15IncretinsPhase 41537
16HormonesPhase 413979
17AntimetabolitesPhase 411774
18Glucagon-Like Peptide 1Phase 4694
19Anti-Asthmatic AgentsPhase 4, Phase 1, Phase 23369
20Hormone AntagonistsPhase 412778
21AlbuterolPhase 4, Phase 1, Phase 2408
22Folic Acid AntagonistsPhase 42200
23Dermatologic AgentsPhase 45674
24Antimetabolites, AntineoplasticPhase 47171
25Antirheumatic AgentsPhase 410627
26Immunosuppressive AgentsPhase 412770
27Nucleic Acid Synthesis InhibitorsPhase 44855
28Adrenergic beta-2 Receptor AgonistsPhase 4, Phase 1, Phase 2925
29Adrenergic beta-AgonistsPhase 4, Phase 1, Phase 21640
30Adrenergic AgonistsPhase 4, Phase 1, Phase 22877
31Adrenergic AgentsPhase 4, Phase 1, Phase 25140
32Vitamin B ComplexPhase 44229
33Immunoglobulins, IntravenousPhase 4324
34gamma-GlobulinsPhase 4317
35Rho(D) Immune GlobulinPhase 4317
36AntibodiesPhase 4, Phase 16045
37ImmunoglobulinsPhase 4, Phase 16045
38Antineoplastic Agents, AlkylatingPhase 44474
39Alkylating AgentsPhase 44694
40Folinic AcidNutraceuticalPhase 43150
41Vitamin B9NutraceuticalPhase 44279
42FolateNutraceuticalPhase 44279
43
MiglustatapprovedPhase 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
44
1-DeoxynojirimycinexperimentalPhase 12619130-96-21374
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
45Glycoside Hydrolase InhibitorsPhase 1128
46Hypoglycemic AgentsPhase 15733
47Cardiac GlycosidesPhase 1148
48Anti-HIV AgentsPhase 13100
49Anti-Infective AgentsPhase 121402
50Anti-Retroviral AgentsPhase 13232

Interventional clinical trials:

(show all 42)
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
3High Dose or High Dose Frequency Study of Alglucosidase AlfaCompletedNCT00483379Phase 4
4Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 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
20Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement TherapyCompletedNCT01885936Phase 1, Phase 2
21Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe DiseaseCompletedNCT00976352Phase 1, Phase 2
22Drug-drug Interaction StudyCompletedNCT01380743Phase 2
23Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe DiseaseCompletedNCT01230801Phase 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
26Albuterol in Individuals With Late Onset Pompe Disease (LOPD)CompletedNCT01859624Phase 1
27Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.CompletedNCT01898364Phase 1
28A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionRecruitingNCT02185651Phase 1
29A Clinical Study to Assess the Effects of SRT2104 Upon Immobilization-Induced Skeletal Muscle Atrophy in Healthy Human VolunteersWithdrawnNCT01039909Phase 1
30Prospective Follow-up of Patients With Glycogen Storage Disease Type IIIUnknown statusNCT01563705
31Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emiaUnknown statusNCT01482494
32Alglucosidase Alfa Temporary Access ProgramApproved for marketingNCT00520143
33Glycogen Storage Disease Type IV DatabaseRecruitingNCT02683512
34Biomarker for Glycogen Storage DiseasesRecruitingNCT02385162
35Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
36Energy Supplements to Improve Exercise Tolerance in Metabolic MyopathiesRecruitingNCT02448667
37Investigating Pompe Prevalence in Neuromuscular Medicine Academic PracticesRecruitingNCT02838368
38A Pilot Study of Pyridostigmine in Pompe DiseaseRecruitingNCT02357225Early Phase 1
39Pompe Telemedicine Developmental StudyRecruitingNCT02950298
40Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.RecruitingNCT02654886
41Alglucosidase Alfa Pompe Safety Sub-RegistryRecruitingNCT01710813
42Diet and Exercise in Pompe DiseaseNot yet recruitingNCT02363153Early Phase 1

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 Iv26
2 Glycogen Storage Disease Type Iv24 GBE1

Anatomical Context for Glycogen Storage Disease Iv

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MalaCards organs/tissues related to Glycogen Storage Disease Iv:

35
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:

69
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 18)
id Gene Variation Type Significance SNP ID Assembly Location
1GBE1NM_000158.3(GBE1): c.691+2T> CSNVLikely pathogenic, Pathogenicrs192044702GRCh37Chr 3, 81698005: 81698005
2GBE1NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser)SNVPathogenicrs80338671GRCh37Chr 3, 81691938: 81691938
3GBE1NM_000158.3(GBE1): c.671T> C (p.Leu224Pro)SNVPathogenicrs137852886GRCh37Chr 3, 81698027: 81698027
4GBE1NM_000158.3(GBE1): c.1543C> T (p.Arg515Cys)SNVPathogenicrs80338672GRCh37Chr 3, 81627151: 81627151
5GBE1NM_000158.3(GBE1): c.771T> A (p.Phe257Leu)SNVPathogenicrs137852887GRCh37Chr 3, 81695554: 81695554
6GBE1NM_000158.3(GBE1): c.1570C> T (p.Arg524Ter)SNVPathogenicrs137852888GRCh37Chr 3, 81627124: 81627124
7GBE1NM_000158.3(GBE1): c.1571G> A (p.Arg524Gln)SNVPathogenicrs80338673GRCh37Chr 3, 81627123: 81627123
8GBE1NM_000158.3(GBE1): c.993-?_1618+?deldeletionPathogenicGRCh37Chr 3, 81586246: 81691932
9GBE1NM_000158.3(GBE1): c.143+1G> ASNVPathogenicrs397515343GRCh37Chr 3, 81810525: 81810525
10GBE1NM_000158.3(GBE1): c.1634A> G (p.His545Arg)SNVPathogenicrs137852889GRCh37Chr 3, 81586231: 81586231
11GBE1NM_000158.3(GBE1): c.1774G> T (p.Glu592Ter)SNVPathogenicrs137852890GRCh37Chr 3, 81586091: 81586091
12GBE1NM_000158.3(GBE1): c.1883A> G (p.His628Arg)SNVPathogenicrs137852891GRCh37Chr 3, 81584397: 81584397
13GBE1NM_000158.3(GBE1): c.691+5G> CSNVPathogenicrs397515344GRCh37Chr 3, 81698002: 81698002
14GBE1NM_000158.3(GBE1): c.1643G> A (p.Trp548Ter)SNVPathogenicrs137852894GRCh37Chr 3, 81586222: 81586222
15GBE1NM_000158.3: c.986A> GSNVLikely pathogenicChr na, -1: -1
16GBE1NM_000158.3: c.288delAdeletionPathogenicChr na, -1: -1
17c.[708G> C]+[784C> T]undetermined variantPathogenicChr na, -1: -1
18c.[c.38dupA]+[1571G> A]duplicationPathogenicChr na, -1: -1

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
9.2G6PC, GAA
2
Show member pathways
8.8G6PC, GAA, GBE1
3
Show member pathways
8.8G6PC, GAA, GBE1
4
Show member pathways
8.8G6PC, 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:00717979.3RBCK1, RNF31

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein linear polyubiquitinationGO:00970399.9RBCK1, RNF31
2I-kappaB kinase/NF-kappaB signalingGO:00072499.7RBCK1, RNF31
3glycogen catabolic processGO:00059809.5G6PC, GAA
4regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.4RBCK1, RNF31
5positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.3RBCK1, RNF31
6protein polyubiquitinationGO:00002099.3RBCK1, RNF31
7glycogen metabolic processGO:00059779.3G6PC, GAA, GBE1
8T cell receptor signaling pathwayGO:00508529.2RBCK1, RNF31
9positive regulation of NF-kappaB transcription factor activityGO:00510929.0RBCK1, RNF31

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin bindingGO:00431309.3RBCK1, RNF31

Sources for Glycogen Storage Disease Iv

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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