GSD4
MCID: GLY007
MIFTS: 55

Glycogen Storage Disease Iv (GSD4) 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 52 11 23 25 70 12 13
Glycogen Storage Disease Type Iv 23 24 25 50 39 68
Glycogen Branching Enzyme Deficiency 23 48 24 25 70
Andersen Disease 23 48 24 25 70
Gsd Iv 23 48 24 25 70
Amylopectinosis 11 48 25 70
Glycogen Storage Disease Type 4 48 25
Glycogen Storage Disease 4 70 27
Brancher Deficiency 48 25
Glycogenosis Iv 23 70
Glycogenosis 4 48 25
Gsd4 25 70
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 54
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 54
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 54
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 54
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 54
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 54
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 54
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 54
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 54
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 54
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 54
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 54
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 54
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 54
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 54
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 54
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form 54
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 54
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form 54
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 54
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 54
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 54
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 54
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form 54
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form 54
Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form 54
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form 54
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form 54
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form 54
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form 54
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form 54
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form 54
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form 54
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form 54
Glycogen Storage Disease Type Iv, Progressive Hepatic Form 54
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form 54
Glycogen Storage Disease Type 4, Adult Neuromuscular Form 54
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form 54
 
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 48
Glycogen Storage Disease Type 4, Progressive Hepatic Form 54
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form 54
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form 54
Gsdiv, Childhood Combined Hepatic and Myopathic Form 54
Glycogenosis Type Iv, Congenital Neuromuscular Form 54
Gbe Deficiency, Fatal Perinatal Neuromuscular Form 54
Glycogenosis Type Iv, Non Progressive Hepatic Form 54
Glycogenosis Type 4, Congenital Neuromuscular Form 54
Glycogenosis Type Iv, Childhood Neuromuscular Form 54
Glycogenosis Type 4, Childhood Neuromuscular Form 54
Glycogenosis Type 4, Non Progressive Hepatic Form 54
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 11
Gsd Type 4, Fatal Perinatal Neuromuscular Form 54
Glycogenosis Type Iv, Adult Neuromuscular Form 54
Glycogenosis Type Iv, Progressive Hepatic Form 54
Glycogenosis Type 4, Adult Neuromuscular Form 54
Branching-Transferase Deficiency Glycogenosis 11
Glycogenosis Type 4, Progressive Hepatic Form 54
Gbe Deficiency, Congenital Neuromuscular Form 54
Gbe Deficiency, Non Progressive Hepatic Form 54
Gbe Deficiency, Childhood Neuromuscular Form 54
Gsd Type 4, Congenital Neuromuscular Form 54
Gsdiv, Fatal Perinatal Neuromuscular Form 54
Gbe Deficiency, Adult Neuromuscular Form 54
Gbe Deficiency, Progressive Hepatic Form 54
Gsd Type 4, Childhood Neuromuscular Form 54
Gsd Type 4, Non Progressive Hepatic Form 54
Gsd Type 4, Adult Neuromuscular Form 54
Gsdiv, Congenital Neuromuscular Form 54
Gsd Type 4, Progressive Hepatic Form 54
Gsdiv, Childhood Neuromuscular Form 54
Gsdiv, Non Progressive Hepatic Form 54
Glycogen Storage Disease, Type Iv 11
Brancher Deficiency Glycogenosis 11
Gsdiv, Adult Neuromuscular Form 54
Gsdiv, Progressive Hepatic Form 54
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 70
Gsd Type Iv 25
Gsd-Iv 70
Gsd 4 48
Gsdiv 24

Characteristics:

HPO:

64
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:48 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 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 Insulin resistance and Glucagon signaling pathway. Affiliated tissues include liver, spleen and skeletal muscle, and related mouse phenotype liver/biliary system.

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:70 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:52 232500

GeneReviews for NBK115333

Related Diseases for Glycogen Storage Disease Iv

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Graphical network of diseases related to Glycogen Storage Disease Iv:



Diseases related to glycogen storage disease iv

Symptoms & Phenotypes for Glycogen Storage Disease Iv

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Symptoms by clinical synopsis from OMIM:

232500

Clinical features from OMIM:

232500

Human phenotypes related to Glycogen Storage Disease Iv:

 64 (show all 18)
id Description HPO Frequency HPO Source Accession
1 edema64 HP:0000969
2 muscular hypotonia64 HP:0001252
3 reduced tendon reflexes64 HP:0001315
4 muscle weakness64 HP:0001324
5 cirrhosis64 HP:0001394
6 hepatic failure64 HP:0001399
7 portal hypertension64 HP:0001409
8 hepatosplenomegaly64 HP:0001433
9 failure to thrive64 HP:0001508
10 ascites64 HP:0001541
11 decreased fetal movement64 HP:0001558
12 polyhydramnios64 HP:0001561
13 cardiomyopathy64 HP:0001638
14 hydrops fetalis64 HP:0001789
15 esophageal varix64 HP:0002040
16 arthrogryposis multiplex congenita64 HP:0002804
17 skeletal muscle atrophy64 HP:0003202
18 tubulointerstitial fibrosis64 HP:0005576

UMLS symptoms related to Glycogen Storage Disease Iv:


hepatosplenomegaly, muscle weakness

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6AGL, G6PC, GBE1, RBCK1

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 top 50)    (show all 59)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 41692174722-31-710201696
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
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
6
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
7Tocolytic AgentsPhase 4, Phase 1, Phase 2739
8Peripheral Nervous System AgentsPhase 4, Phase 1, Phase 223689
9Bronchodilator AgentsPhase 4, Phase 1, Phase 22965
10Neurotransmitter AgentsPhase 4, Phase 1, Phase 2, Early Phase 118340
11Gastrointestinal AgentsPhase 48402
12Respiratory System AgentsPhase 4, Phase 1, Phase 24997
13Glucagon-Like Peptide 1Phase 4715
14Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 413168
15IncretinsPhase 41579
16HormonesPhase 414415
17AntimetabolitesPhase 412054
18Autonomic AgentsPhase 4, Phase 1, Phase 210150
19glucagonPhase 4478
20Hormone AntagonistsPhase 413180
21Immunosuppressive AgentsPhase 413086
22Nucleic Acid Synthesis InhibitorsPhase 44962
23Folic Acid AntagonistsPhase 42257
24Dermatologic AgentsPhase 45806
25Antirheumatic AgentsPhase 410956
26Anti-Asthmatic AgentsPhase 4, Phase 1, Phase 23488
27Antimetabolites, AntineoplasticPhase 47361
28Vitamin B ComplexPhase 44337
29Adrenergic beta-2 Receptor AgonistsPhase 4, Phase 1, Phase 2957
30Adrenergic beta-AgonistsPhase 4, Phase 1, Phase 21714
31AlbuterolPhase 4, Phase 1, Phase 2429
32Adrenergic AgonistsPhase 4, Phase 1, Phase 23027
33Adrenergic AgentsPhase 4, Phase 1, Phase 25352
34gamma-GlobulinsPhase 4326
35Immunoglobulins, IntravenousPhase 4333
36Rho(D) Immune GlobulinPhase 4326
37ImmunoglobulinsPhase 4, Phase 16394
38Alkylating AgentsPhase 44827
39Antineoplastic Agents, AlkylatingPhase 44603
40AntibodiesPhase 4, Phase 16394
41Vitamin B9NutraceuticalPhase 44392
42FolateNutraceuticalPhase 44392
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 15896
47Cardiac GlycosidesPhase 1148
48Anti-HIV AgentsPhase 13162
49Anti-Infective AgentsPhase 122062
50Anti-Retroviral AgentsPhase 13296

Interventional clinical trials:

(show all 44)
idNameStatusNCT IDPhase
1CPAP for Infantile Pompe DiseaseUnknown statusNCT02405624Phase 4
2Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase AlfaCompletedNCT01288027Phase 4
3An 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
4High Dose or High Dose Frequency Study of Alglucosidase AlfaCompletedNCT00483379Phase 4
5Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
6Evaluation of Salbutamol as an Adjuvant Therapy for Pompe DiseaseCompletedNCT02405598Phase 4
7Glucagon Efficiency After High and Low Carbohydrate DietCompletedNCT02578498Phase 4
8Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe DiseaseRecruitingNCT01410890Phase 4
9Immune Tolerance Induction StudyRecruitingNCT00701701Phase 4
10Pompe Pregnancy Sub-RegistryRecruitingNCT00567073Phase 4
11Pompe Lactation Sub-RegistryRecruitingNCT00566878Phase 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 StudyEnrolling by invitationNCT02032524Phase 2, Phase 3
18BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)TerminatedNCT01924845Phase 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
24VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe DiseaseRecruitingNCT02898753Phase 1, Phase 2
25Extension Study for Patients Who Have Participated in a BMN 701 StudyActive, not recruitingNCT01435772Phase 2
26Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)Not yet recruitingNCT03181399Phase 2
27Albuterol in Individuals With Late Onset Pompe Disease (LOPD)CompletedNCT01859624Phase 1
28Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.CompletedNCT01898364Phase 1
29A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionRecruitingNCT02185651Phase 1
30Treatment Development of Triheptanoin (G1D)RecruitingNCT03041363Phase 1
31A Clinical Study to Assess the Effects of SRT2104 Upon Immobilization-Induced Skeletal Muscle Atrophy in Healthy Human VolunteersWithdrawnNCT01039909Phase 1
32Prospective Follow-up of Patients With Glycogen Storage Disease Type IIIUnknown statusNCT01563705
33Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emiaUnknown statusNCT01482494
34Alglucosidase Alfa Temporary Access ProgramApproved for marketingNCT00520143
35Glycogen Storage Disease Type IV DatabaseRecruitingNCT02683512
36Biomarker for Glycogen Storage DiseasesRecruitingNCT02385162
37Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
38Energy Supplements to Improve Exercise Tolerance in Metabolic MyopathiesRecruitingNCT02448667
39Investigating Pompe Prevalence in Neuromuscular Medicine Academic PracticesRecruitingNCT02838368
40A Pilot Study of Pyridostigmine in Pompe DiseaseRecruitingNCT02357225Early Phase 1
41Pompe Telemedicine Developmental StudyRecruitingNCT02950298
42Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.RecruitingNCT02654886
43Alglucosidase Alfa Pompe Safety Sub-RegistryRecruitingNCT01710813
44Diet and Exercise in Pompe DiseaseNot yet recruitingNCT02363153

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 Iv27
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:

36
Liver, Spleen, Skeletal muscle

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:

70
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 88)
id Gene Variation Type Significance SNP ID Assembly Location
1AGLNM_ 000642.2(AGL): c.4529dupA (p.Tyr1510Terfs)duplicationPathogenic/ Likely pathogenicrs387906244GRCh37Chr 1, 100387137: 100387137
2AGLNM_ 000642.2(AGL): c.16C> T (p.Gln6Ter)SNVPathogenic/ Likely pathogenicrs113994126GRCh37Chr 1, 100316614: 100316614
3AGLNM_ 000642.2(AGL): c.2039G> A (p.Trp680Ter)SNVPathogenicrs113994129GRCh37Chr 1, 100346885: 100346885
4AGLNM_ 000642.2(AGL): c.4456delT (p.Ser1486Profs)deletionPathogenicrs113994134GRCh37Chr 1, 100382262: 100382262
5AGLNM_ 000642.2(AGL): c.4260-12A> GSNVPathogenic/ Likely pathogenicrs369973784GRCh37Chr 1, 100381954: 100381954
6AGLNM_ 000642.2(AGL): c.1735+1G> TSNVPathogenic/ Likely pathogenicrs199922945GRCh37Chr 1, 100345603: 100345603
7AGLNM_ 000642.2(AGL): c.3965delT (p.Val1322Alafs)deletionPathogenicrs113994132GRCh37Chr 1, 100379098: 100379098
8AGLNM_ 000642.2(AGL): c.1222C> T (p.Arg408Ter)SNVPathogenicrs113994128GRCh37Chr 1, 100340950: 100340950
9AGLNM_ 000642.2(AGL): c.3980G> A (p.Trp1327Ter)SNVPathogenic/ Likely pathogenicrs267606640GRCh37Chr 1, 100379113: 100379113
10AGLNM_ 000642.2(AGL): c.100C> T (p.Arg34Ter)SNVLikely pathogenicrs781580050GRCh37Chr 1, 100327076: 100327076
11AGLNM_ 000642.2(AGL): c.2309-1G> ASNVLikely pathogenicrs786204481GRCh38Chr 1, 99884119: 99884119
12AGLNM_ 000642.2(AGL): c.94C> T (p.Gln32Ter)SNVLikely pathogenicrs786204489GRCh38Chr 1, 99861514: 99861514
13AGLNM_ 000642.2(AGL): c.3297G> A (p.Trp1099Ter)SNVLikely pathogenicrs786204490GRCh38Chr 1, 99896323: 99896323
14AGLNM_ 000642.2(AGL): c.3444C> G (p.Tyr1148Ter)SNVLikely pathogenicrs776977863GRCh38Chr 1, 99900717: 99900717
15AGLNM_ 000642.2(AGL): c.4197delA (p.Ala1400Leufs)deletionLikely pathogenicrs786204595GRCh38Chr 1, 99915424: 99915424
16AGLNM_ 000642.2(AGL): c.664+3A> GSNVLikely pathogenicrs370792293GRCh37Chr 1, 100330148: 100330148
17AGLNM_ 000642.2(AGL): c.1391dupG (p.Asp465Argfs)duplicationLikely pathogenicrs786204616GRCh38Chr 1, 99876565: 99876565
18AGLNM_ 000642.2(AGL): c.118C> T (p.Gln40Ter)SNVPathogenic/ Likely pathogenicrs771961377GRCh38Chr 1, 99861538: 99861538
19AGLNM_ 000642.2(AGL): c.4221dupA (p.Leu1408Ilefs)duplicationLikely pathogenicrs786204655GRCh38Chr 1, 99915448: 99915448
20AGLNM_ 000642.2(AGL): c.1384delG (p.Val462Terfs)deletionLikely pathogenicrs786204678GRCh38Chr 1, 99876558: 99876558
21AGLNM_ 000642.2(AGL): c.1485delT (p.Tyr495Terfs)deletionPathogenicrs794727051GRCh37Chr 1, 100343258: 100343258
22AGLNM_ 000642.2(AGL): c.18_ 19delGA (p.Gln6Hisfs)deletionPathogenic/ Likely pathogenicrs113994127GRCh37Chr 1, 100316616: 100316617
23AGLNM_ 000642.2(AGL): c.256C> T (p.Gln86Ter)SNVPathogenicrs193186112GRCh37Chr 1, 100327232: 100327232
24AGLNM_ 000642.2(AGL): c.535_ 538delTTAG (p.Leu179Asnfs)deletionPathogenicrs794727706GRCh37Chr 1, 100330016: 100330019
25GBE1NM_ 000158.3(GBE1): c.691+2T> CSNVPathogenic/ Likely pathogenicrs192044702GRCh37Chr 3, 81698005: 81698005
26AGLNM_ 000642.2(AGL): c.2590C> T (p.Arg864Ter)SNVPathogenicrs113994130GRCh37Chr 1, 100350168: 100350168
27AGLNM_ 000642.2(AGL): c.3682C> T (p.Arg1228Ter)SNVPathogenicrs113994131GRCh37Chr 1, 100368332: 100368332
28AGLNM_ 000642.2(AGL): c.772T> C (p.Ser258Pro)SNVLikely pathogenicrs886039873GRCh38Chr 1, 99870507: 99870507
29AGLNM_ 000642.2(AGL): c.1282A> G (p.Arg428Gly)SNVLikely pathogenicrs886039883GRCh38Chr 1, 99875454: 99875454
30GBE1NM_ 000158.3(GBE1): c.986A> C (p.Tyr329Ser)SNVPathogenicrs80338671GRCh37Chr 3, 81691938: 81691938
31GBE1NM_ 000158.3(GBE1): c.671T> C (p.Leu224Pro)SNVPathogenicrs137852886GRCh37Chr 3, 81698027: 81698027
32GBE1NM_ 000158.3(GBE1): c.1543C> T (p.Arg515Cys)SNVPathogenicrs80338672GRCh37Chr 3, 81627151: 81627151
33GBE1NM_ 000158.3(GBE1): c.771T> A (p.Phe257Leu)SNVPathogenicrs137852887GRCh37Chr 3, 81695554: 81695554
34GBE1NM_ 000158.3(GBE1): c.1570C> T (p.Arg524Ter)SNVPathogenicrs137852888GRCh37Chr 3, 81627124: 81627124
35GBE1NM_ 000158.3(GBE1): c.1571G> A (p.Arg524Gln)SNVPathogenicrs80338673GRCh37Chr 3, 81627123: 81627123
36GBE1NM_ 000158.3(GBE1): c.993-?_ 1618+?deldeletionPathogenicGRCh37Chr 3, 81586246: 81691932
37GBE1NM_ 000158.3(GBE1): c.143+1G> ASNVPathogenicrs397515343GRCh37Chr 3, 81810525: 81810525
38GBE1NM_ 000158.3(GBE1): c.1634A> G (p.His545Arg)SNVPathogenicrs137852889GRCh37Chr 3, 81586231: 81586231
39GBE1NM_ 000158.3(GBE1): c.1774G> T (p.Glu592Ter)SNVPathogenicrs137852890GRCh37Chr 3, 81586091: 81586091
40GBE1NM_ 000158.3(GBE1): c.1883A> G (p.His628Arg)SNVPathogenicrs137852891GRCh37Chr 3, 81584397: 81584397
41GBE1NM_ 000158.3(GBE1): c.691+5G> CSNVPathogenicrs397515344GRCh37Chr 3, 81698002: 81698002
42GBE1NM_ 000158.3(GBE1): c.1643G> A (p.Trp548Ter)SNVPathogenicrs137852894GRCh37Chr 3, 81586222: 81586222
43AGLNM_ 000642.2(AGL): c.2681+1G> ASNVPathogenicrs201201443GRCh37Chr 1, 100350260: 100350260
44AGLNM_ 000642.2(AGL): c.2158-1G> ASNVPathogenicrs886043990GRCh37Chr 1, 100347096: 100347096
45AGLNM_ 000642.2(AGL): c.2605C> T (p.Gln869Ter)SNVLikely pathogenicrs1057516254GRCh37Chr 1, 100350183: 100350183
46AGLNM_ 000642.2(AGL): c.3011delC (p.Pro1004Hisfs)deletionLikely pathogenicrs1057516306GRCh37Chr 1, 100357223: 100357223
47AGLNM_ 000642.2(AGL): c.348_ 373del26 (p.Ala117Leufs)deletionLikely pathogenicrs1057516308GRCh38Chr 1, 99862311: 99862336
48AGLNM_ 000642.2(AGL): c.442delA (p.Arg148Glyfs)deletionLikely pathogenicrs1057516397GRCh37Chr 1, 100327961: 100327961
49AGLNM_ 000642.2(AGL): c.672dupT (p.Ser225Terfs)duplicationLikely pathogenicrs1057516471GRCh38Chr 1, 99870407: 99870407
50AGLNM_ 000642.2(AGL): c.3363-1G> ASNVLikely pathogenicrs1057516513GRCh38Chr 1, 99900635: 99900635
51AGLNM_ 000642.2(AGL): c.753_ 756delCAGA (p.Asp251Glufs)deletionPathogenicrs1057516545GRCh37Chr 1, 100336044: 100336047
52AGLNM_ 000642.2(AGL): c.1782C> A (p.Tyr594Ter)SNVLikely pathogenicrs1057516563GRCh37Chr 1, 100346234: 100346234
53AGLNM_ 000642.2(AGL): c.104T> G (p.Leu35Ter)SNVLikely pathogenicrs1057516567GRCh38Chr 1, 99861524: 99861524
54AGLNM_ 000642.2(AGL): c.1597_ 1598delCT (p.Leu533Serfs)deletionLikely pathogenicrs1057516570GRCh37Chr 1, 100343370: 100343371
55AGLNM_ 000642.2(AGL): c.293+1delGdeletionLikely pathogenicrs1057516592GRCh37Chr 1, 100327270: 100327270
56AGLNM_ 000642.2(AGL): c.2011_ 2012delGT (p.Val671Phefs)deletionLikely pathogenicrs1057516666GRCh38Chr 1, 99881301: 99881302
57AGLNM_ 000642.2(AGL): c.2001+2T> CSNVLikely pathogenicrs1057516708GRCh38Chr 1, 99881179: 99881179
58AGLNM_ 000642.2(AGL): c.1169_ 1172delACTA (p.Asn390Ilefs)deletionLikely pathogenicrs1057516741GRCh38Chr 1, 99875240: 99875243
59AGLNM_ 000642.2(AGL): c.2950-1G> ASNVLikely pathogenicrs1057516793GRCh38Chr 1, 99891605: 99891605
60AGLNM_ 000642.2(AGL): c.3911dupA (p.Asn1304Lysfs)duplicationLikely pathogenicrs1057516803GRCh37Chr 1, 100378035: 100378035
61AGLNM_ 000642.2(AGL): c.3554delC (p.Thr1185Lysfs)deletionLikely pathogenicrs764318570GRCh38Chr 1, 99900827: 99900827
62AGLNM_ 000642.2(AGL): c.294-2A> TSNVLikely pathogenicrs1057516868GRCh38Chr 1, 99862255: 99862255
63AGLNM_ 000642.2(AGL): c.22C> T (p.Arg8Ter)SNVLikely pathogenicrs1057516870GRCh38Chr 1, 99851064: 99851064
64AGLNM_ 000642.2(AGL): c.1400delC (p.Pro467Leufs)deletionLikely pathogenicrs1057516913GRCh38Chr 1, 99876574: 99876574
65AGLNM_ 000642.2(AGL): c.2929C> T (p.Arg977Ter)SNVLikely pathogenicrs531425980GRCh38Chr 1, 99891336: 99891336
66AGLNM_ 000642.2(AGL): c.3816_ 3817delAG (p.Gly1273Asnfs)deletionLikely pathogenicrs1057516937GRCh38Chr 1, 99910827: 99910828
67AGLNM_ 000642.2(AGL): c.1185+1G> ASNVLikely pathogenicrs1057516948GRCh38Chr 1, 99875257: 99875257
68AGLNM_ 000642.2(AGL): c.3083+2T> CSNVLikely pathogenicrs1057516952GRCh37Chr 1, 100357297: 100357297
69AGLNM_ 000642.2(AGL): c.2538dupT (p.Ile847Tyrfs)duplicationLikely pathogenicrs1057516984GRCh38Chr 1, 99884443: 99884443
70AGLNM_ 000642.2(AGL): c.4322_ 4323dupAA (p.Gly1442Lysfs)duplicationPathogenic/ Likely pathogenicrs1057516994GRCh37Chr 1, 100382028: 100382029
71AGLNM_ 000642.2(AGL): c.3807dupT (p.Arg1270Terfs)duplicationLikely pathogenicrs1057517017GRCh38Chr 1, 99910818: 99910818
72AGLNM_ 000642.2(AGL): c.64delC (p.Leu22Serfs)deletionLikely pathogenicrs1057517057GRCh37Chr 1, 100316662: 100316662
73AGLNM_ 000642.2(AGL): c.3443dupA (p.Tyr1148Terfs)duplicationLikely pathogenicrs1057517079GRCh38Chr 1, 99900716: 99900716
74AGLNM_ 000642.2(AGL): c.2278delA (p.Ser760Alafs)deletionLikely pathogenicrs1057517136GRCh37Chr 1, 100347217: 100347217
75AGLNM_ 000642.2(AGL): c.1078C> T (p.His360Tyr)SNVLikely pathogenicrs763554006GRCh38Chr 1, 99874806: 99874806
76AGLNM_ 000642.2(AGL): c.2681+1G> TSNVPathogenicrs201201443GRCh38Chr 1, 99884704: 99884704
77AGLNM_ 000642.2(AGL): c.276delG (p.Gln92Hisfs)deletionPathogenicrs1057517243GRCh38Chr 1, 99861696: 99861696
78GBE1NM_ 000158.3(GBE1): c.986A> G (p.Tyr329Cys)SNVLikely pathogenicrs80338671GRCh37Chr 3, 81691938: 81691938
79GBE1NM_ 000158.3(GBE1): c.288delA (p.Gly97Glufs)deletionPathogenicrs1057517315GRCh38Chr 3, 81705469: 81705469
80AGLNM_ 000642.2(AGL): c.294-1G> CSNVLikely pathogenicrs757967016GRCh38Chr 1, 99862256: 99862256
81AGLNM_ 000642.2(AGL): c.437delG (p.Arg146Asnfs)deletionLikely pathogenicrs1057517344GRCh38Chr 1, 99862400: 99862400
82AGLNM_ 000642.2(AGL): c.140dupA (p.Tyr47Terfs)duplicationLikely pathogenicrs1057517347GRCh37Chr 1, 100327116: 100327116
83AGLNM_ 000642.2(AGL): c.4175_ 4176delTT (p.Phe1392Tyrfs)deletionLikely pathogenicrs1057517405GRCh38Chr 1, 99915402: 99915403
84AGLNM_ 000642.2(AGL): c.2525delC (p.Pro842Glnfs)deletionLikely pathogenicrs1057517425GRCh38Chr 1, 99884430: 99884430
85AGLNM_ 000028.2(AGL): c.4353G> T (p.Trp1451Cys)SNVLikely pathogenicrs775685508GRCh38Chr 1, 99916603: 99916603
86AGLNM_ 000028.2(AGL): c.3836+1G> ASNVPathogenicrs780883601GRCh38Chr 1, 99910848: 99910848
87c.[708G> C]+[784C> T]undetermined variantPathogenic
88c.[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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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:00717979.1RBCK1, RNF31

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:000597810.5AGL, GBE1
2glucose homeostasisGO:004259310.0G6PC, PYGL
3I-kappaB kinase/NF-kappaB signalingGO:00072499.8RBCK1, RNF31
4metabolic processGO:00081529.8AGL, GAA, PYGL
5neutrophil degranulationGO:00433129.6AGL, GAA, PYGL
6carbohydrate metabolic processGO:00059759.5AGL, GAA, GBE1, PYGL
7protein linear polyubiquitinationGO:00970399.5RBCK1, RNF31
8glycogen catabolic processGO:00059809.3AGL, G6PC, GAA, PYGL
9regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.1RBCK1, RNF31
10glycogen metabolic processGO:00059778.9AGL, G6PC, GAA, GBE1, PYGL

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

idNameGO IDScoreTop Affiliating Genes
1hydrolase activity, hydrolyzing O-glycosyl compoundsGO:000455310.5GAA, GBE1
2hydrolase activity, acting on glycosyl bondsGO:001679810.4AGL, GAA
3transferase activity, transferring glycosyl groupsGO:00167579.7AGL, GBE1, PYGL
4carbohydrate bindingGO:00302469.6AGL, GAA, GBE1, PYGL
5ubiquitin bindingGO:00431309.1RBCK1, RNF31
6transferase activityGO:00167408.1AGL, CPT2, GBE1, PYGL, RBCK1, RNF31

Sources for Glycogen Storage Disease Iv

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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