Page last updated: 2024-09-27

Glycogen Storage Disease Type VII

An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

Synonyms(1)

Synonym
Glycogen Storage Disease Type VII

Research

Studies (36)

TimeframeStudies, This Condition (%)All Conditions %
pre-199012 (33.33)23.3326
1990's14 (38.89)12.5806
2000's8 (22.22)18.1394
2010's2 (5.56)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
2,3-diphosphoglycerate0low20
ammonium hydroxide0medium52
carnitine0low20
lactic acid0medium31
pyruvic acid0low10
uric acid0low50
alanine0low10
adenosine diphosphate0low10
adenosine monophosphate0low20
asparagine0low10
tryptophan0low10
fructose-6-phosphate0low10
glucose-1,6-bisphosphate0low10
p-methoxy-n-methylphenethylamine0low10
fructose 2,6-diphosphate0low20
glycogen0low150
bilirubin0low10
cysteine0low10
phosphocreatine0low20
hypoxanthine0medium41
inosinic acid0low10
inosine0medium51

Protein Targets (266)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, Heat Shock Protein 900011
Chain A, GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE0011
Chain B, GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE0011
Chain A, EOSINOPHIL-DERIVED NEUROTOXIN0101
Chain A, EOSINOPHIL-DERIVED NEUROTOXIN0101
Chain A, EOSINOPHIL-DERIVED NEUROTOXIN0101
Chain A, Myosin Ie Heavy Chain0011
Chain A, Preprotein translocase secA0011
Chain A, Ribonuclease pancreatic0101
Chain A, Ribonuclease pancreatic0101
Chain A, Ribonuclease pancreatic0101
Chain A, Ribonuclease pancreatic0101
Chain A, Ribonuclease pancreatic0101
Chain A, Phosphoribosylformylglycinamidine synthase0101
Chain A, nucleoside diphosphate kinase A0011
Chain B, nucleoside diphosphate kinase A0011
Chain D, DNA polymerase III subunit gamma0011
Chain D, DNA polymerase III subunit gamma0011
Chain A [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 30011
Chain A [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 30011
Chain A, Kinesin-like protein KIF110101
regulator of G-protein signaling 42002
HPr kinase/phosphorylase0011
Mitogen-activated protein kinase kinase kinase 70022
ATP-dependent molecular chaperone HSP820001
Heat shock protein HSP 90-alpha0113
Heat shock protein HSP 90-beta0113
2-dehydropantoate 2-reductase0224
Heat shock 70 kDa protein 1A 0112
Endoplasmic reticulum chaperone BiP0011
Heat shock cognate 71 kDa protein0011
Pyruvate kinase PKM 0001
Pyruvate kinase PKLR 0001
Endoplasmin0001
Heat shock cognate 71 kDa protein0011
5'-nucleotidase0101
Mu-type opioid receptor0011
Delta-type opioid receptor0011
Kappa-type opioid receptor0011
Endoplasmin0112
P2Y purinoceptor 20022
Phosphatidylinositol 4-kinase alpha0202
P2X purinoceptor 10011
P2Y purinoceptor 10022
P2Y purinoceptor 10022
P2X purinoceptor 10011
P2X purinoceptor 40011
P2X purinoceptor 50011
P2X purinoceptor 60011
P2X purinoceptor 30011
Inositol monophosphatase 12002
Heat shock protein 75 kDa, mitochondrial0101
P2Y purinoceptor 60011
Phosphatidylinositol 4-kinase type 2-beta0202
P2Y purinoceptor 110022
Phosphatidylinositol 4-kinase type 2-alpha0202
P2Y purinoceptor 120011
Sensor protein kinase WalK0101
Phosphatidylinositol 4-kinase beta0202
P2X purinoceptor 20011
Chain A, Glycogen Phosphorylase B0011
Chain B, Glycogen Phosphorylase B0011
Chain A, ADP-dependent glucokinase0101
Chain A, Ribonuclease pancreatic0202
Chain A, Ribonuclease pancreatic0202
Chain A, phosphodiesterase-nucleotide pyrophosphatase0101
Chain A, GLYCOGEN PHOSPHORYLASE B0011
Chain B, GLYCOGEN PHOSPHORYLASE B0011
Chain A, GLYCOGEN PHOSPHORYLASE B0011
RAR-related orphan receptor gamma2002
AR protein4004
glucocorticoid receptor [Homo sapiens]2002
estrogen-related nuclear receptor alpha4004
euchromatic histone-lysine N-methyltransferase 22002
v-jun sarcoma virus 17 oncogene homolog (avian)3003
2'-deoxynucleoside 5'-phosphate N-hydrolase 10101
2'-deoxynucleoside 5'-phosphate N-hydrolase 10101
5'-AMP-activated protein kinase subunit beta-20011
Transient receptor potential cation channel subfamily M member 20101
Alcohol dehydrogenase E chain0101
Alcohol dehydrogenase S chain0101
L-lactate dehydrogenase A chain0112
Adenylate kinase isoenzyme 10001
Fructose-1,6-bisphosphatase 10101
Alkaline phosphatase, tissue-nonspecific isozyme0102
Fructose-1,6-bisphosphatase 10101
Inosine-5'-monophosphate dehydrogenase0102
Cytochrome P450 2C9 0101
Proto-oncogene tyrosine-protein kinase Src0101
Amine oxidase [flavin-containing] B0101
5'-nucleotidase0001
Choline O-acetyltransferase0101
Adenylate kinase 2, mitochondrial0102
GTP:AMP phosphotransferase AK3, mitochondrial0001
Adenosine receptor A10011
Adenylate kinase isoenzyme 1 0102
5'-AMP-activated protein kinase subunit gamma-10022
5'-AMP-activated protein kinase catalytic subunit alpha-20011
Adenylate kinase 2, mitochondrial0001
Glycine--tRNA ligase0101
5'-AMP-activated protein kinase catalytic subunit alpha-10022
Adenosine deaminase-like protein0001
Protease 0112
Histamine H3 receptor0101
5'-AMP-activated protein kinase subunit gamma-30011
5'-AMP-activated protein kinase subunit gamma-20011
5'-AMP-activated protein kinase subunit beta-10022
ATP-dependent phosphofructokinase2002
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Carbonic anhydrase 10003
Carbonic anhydrase 20003
Alanine racemase, biosynthetic0001
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0102
Proton-coupled amino acid transporter 10101
Adenosine deaminase0001
Carbonic anhydrase 40001
Neutral amino acid transporter A0101
Neutral amino acid transporter B(0)0101
Carbonic anhydrase-like protein, putative0002
Amino acid transporter0101
Chain A, Putative fructose-1,6-bisphosphate aldolase2002
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, 2-oxoglutarate Oxygenase2002
Chain A, Cruzipain1001
phosphopantetheinyl transferase3003
USP1 protein, partial1001
Microtubule-associated protein tau2002
aldehyde dehydrogenase 1 family, member A12002
vitamin D3 receptor isoform VDRA1001
DNA polymerase kappa isoform 11001
caspase-1 isoform alpha precursor1001
lamin isoform A-delta102002
Caspase-71001
Solute carrier organic anion transporter family member 1B30203
Solute carrier organic anion transporter family member 1B10203
Solute carrier family 22 member 50001
Solute carrier family 22 member 50001
Bile salt export pump0101
Solute carrier family 22 member 160001
Solute carrier family 22 member 210001
Solute carrier family 22 member 50001
Chain A, Phosphomannomutase/phosphoglucomutase0011
Chain A, Purine-nucleoside Phosphorylase0101
Chain C, Xanthine dehydrogenase/oxidase0011
cytochrome P450 family 3 subfamily A polypeptide 42002
peroxisome proliferator activated receptor gamma2002
activating transcription factor 61001
Hypoxanthine-guanine phosphoribosyltransferase0102
Purine nucleoside phosphorylase 0012
Chain A, ADENOSINE DEAMINASE0101
Chain A, ADENOSINE DEAMINASE0101
Chain A, Membrane lipoprotein tmpC0011
Chain A, Membrane lipoprotein tmpC0011
Chain A, Membrane lipoprotein tmpC0011
Chain A, Ferritin light chain1001
Smad31001
bromodomain adjacent to zinc finger domain 2B2002
IDH11001
nuclear factor erythroid 2-related factor 2 isoform 21001
glycogen synthase kinase-3 beta isoform 10011
geminin1001
survival motor neuron protein isoform d1001
muscleblind-like protein 1 isoform 11001
Purine nucleoside phosphorylase0001
Adenosylhomocysteinase0102
Adenosine deaminase 0101
Chain A, Hypoxanthine Phosphoribosyltransferase0101
Chain A, HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE0101
Chain A, hypoxanthine phosphoribosyltransferase0011
Chain A, hypoxanthine phosphoribosyltransferase0011
Chain A, HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE0011
Chain B, HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE0011
Chain A, HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE0011
Chain A, Hypoxanthine-guanine phosphoribosyltransferase0101
Inosine-5'-monophosphate dehydrogenase 20102
Inosine-5'-monophosphate dehydrogenase 1 0102
acetylcholinesterase1001
estrogen receptor 2 (ER beta)1001
retinoic acid nuclear receptor alpha variant 13003
estrogen nuclear receptor alpha2002
cytochrome P450 2D61001
thyroid stimulating hormone receptor2002
cellular tumor antigen p53 isoform a1001
Integrin beta-31001
Integrin alpha-IIb1001
progesterone receptor1001
thyroid hormone receptor beta isoform 21001
nuclear factor erythroid 2-related factor 2 isoform 11001
Monocarboxylate transporter 40001
Monocarboxylate transporter 20001
Cellular tumor antigen p531001
Monocarboxylate transporter 10001
C-terminal-binding protein 20101
Monocarboxylate transporter 20101
Solute carrier family 22 member 200101
Prolyl 4-hydroxylase0101
Solute carrier family 22 member 60101
Solute carrier organic anion transporter family member 2A10101
Alpha-ketoglutarate-dependent dioxygenase FTO0101
Chain A, Trp Rna-binding Attenuation Protein0011
Chain K, Trp Rna-binding Attenuation Protein0011
Chain B, tryptophanyl-tRNA synthetase0011
Chain C, Tryptophanyl-tRNA synthetase II0011
thioredoxin reductase1001
GLS protein1001
GLI family zinc finger 31001
thioredoxin glutathione reductase1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
thyroid stimulating hormone receptor1001
arylsulfatase A1001
aryl hydrocarbon receptor1001
Bloom syndrome protein isoform 11001
peripheral myelin protein 22 isoform 11001
flap endonuclease 11001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
DNA polymerase iota isoform a (long)1001
M-phase phosphoprotein 81001
Carbonic anhydrase 120001
Dihydrofolate reductase0202
Plasma kallikrein0001
Myeloperoxidase0101
Carbonic anhydrase 30001
Stromelysin-10101
Intestinal-type alkaline phosphatase0101
Indoleamine 2,3-dioxygenase 10102
Carbonic anhydrase 40001
Carbonic anhydrase 60001
Substance-P receptor0101
Carbonic anhydrase 5A, mitochondrial0001
Carbonic anhydrase0001
Carbonic anhydrase 70001
Tryptophan 2,3-dioxygenase0102
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2A 0001
Glutamate receptor ionotropic, NMDA 2B0001
Glutamate receptor ionotropic, NMDA 2C0001
Large neutral amino acids transporter small subunit 10101
SLC16A10 protein0001
Uracil nucleotide/cysteinyl leukotriene receptor0101
Carbonic anhydrase 90001
Carbonic anhydrase 0001
Tryprostatin B synthase0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2D0001
2-C-methyl-D-erythritol 2,4-cyclodiphosphate synthase0011
Carbonic anhydrase 0001
Glutamate receptor ionotropic, NMDA 3B0001
Monocarboxylate transporter 100001
Carbonic anhydrase 150001
Carbonic anhydrase 130001
Glutamate receptor ionotropic, NMDA 3A0001
Carbonic anhydrase 140001
Phospholipase A-2-activating protein0101
Carbonic anhydrase 5B, mitochondrial0001
Chain A, Glycogen phosphorylase, liver form0011
Chain A, glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Solute carrier family 22 member 60001
Solute carrier family 22 member 80101
Solute carrier family 2, facilitated glucose transporter member 90112
Guanine deaminase0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]