Page last updated: 2024-09-28
Glycogen Storage Disease Type VIII
An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Synonyms(2)
| Synonym |
|---|
| Glycogen Storage Disease Type VIII |
| Glycogenosis 8 |
Research
Studies (4)
| Timeframe | Studies, This Condition (%) | All Conditions % |
|---|
| pre-1990 | 1 (25.00) | 23.3326 |
| 1990's | 1 (25.00) | 12.5806 |
| 2000's | 1 (25.00) | 18.1394 |
| 2010's | 1 (25.00) | 28.8240 |
| 2020's | 0 (0.00) | 9.53 |
Protein Targets (75)
| Protein | Potency Measurements | Inhibition Measurements | Activation Measurements | Drugs |
|---|
| Chain A, HISTIDINE-BINDING PROTEIN | 0 | 0 | 1 | 1 |
| Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN | 0 | 0 | 1 | 1 |
| Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN | 0 | 0 | 1 | 1 |
| Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN | 0 | 0 | 1 | 1 |
| ATAD5 protein, partial | 1 | 0 | 0 | 1 |
| euchromatic histone-lysine N-methyltransferase 2 | 1 | 0 | 0 | 1 |
| flap endonuclease 1 | 1 | 0 | 0 | 1 |
| cytochrome P450 3A4 isoform 1 | 1 | 0 | 0 | 1 |
| histone acetyltransferase KAT2A isoform 1 | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit pi | 1 | 0 | 0 | 1 |
| Carbonic anhydrase 12 | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 1 | 0 | 0 | 0 | 2 |
| Carbonic anhydrase 2 | 0 | 0 | 0 | 2 |
| Plasma kallikrein | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 3 | 0 | 0 | 0 | 1 |
| Histidine-binding periplasmic protein | 0 | 0 | 1 | 1 |
| Gamma-aminobutyric acid receptor subunit beta-1 | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit delta | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit gamma-2 | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit alpha-5 | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit alpha-3 | 1 | 0 | 0 | 1 |
| Carbonic anhydrase 4 | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 6 | 0 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit gamma-1 | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit alpha-2 | 1 | 0 | 0 | 1 |
| Adenosine receptor A1 | 0 | 0 | 0 | 1 |
| 5-hydroxytryptamine receptor 1D | 0 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit alpha-4 | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit gamma-3 | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit alpha-6 | 1 | 0 | 0 | 1 |
| Adenosine receptor A2a | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 5A, mitochondrial | 0 | 0 | 0 | 1 |
| Glutamate receptor ionotropic, NMDA 1 | 0 | 0 | 0 | 1 |
| Carbonic anhydrase | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 7 | 0 | 0 | 0 | 1 |
| Carbonic anhydrase | 0 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit alpha-1 | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit beta-3 | 1 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit beta-2 | 1 | 0 | 0 | 1 |
| Glutamate receptor ionotropic, NMDA 2A | 0 | 0 | 0 | 1 |
| Glutamate receptor ionotropic, NMDA 2B | 0 | 0 | 0 | 1 |
| Glutamate receptor ionotropic, NMDA 2C | 0 | 0 | 0 | 1 |
| Large neutral amino acids transporter small subunit 1 | 0 | 1 | 0 | 1 |
| Glutaminyl-peptide cyclotransferase | 0 | 1 | 0 | 1 |
| Carbonic anhydrase 9 | 0 | 0 | 0 | 1 |
| Carbonic anhydrase | 0 | 0 | 0 | 1 |
| Carbonic anhydrase-like protein, putative | 0 | 0 | 0 | 1 |
| Carbonic anhydrase | 0 | 0 | 0 | 1 |
| Carbonic anhydrase | 0 | 0 | 0 | 1 |
| Glutamate receptor ionotropic, NMDA 2D | 0 | 0 | 0 | 1 |
| Carbonic anhydrase | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 13 | 0 | 0 | 0 | 1 |
| Glutamate receptor ionotropic, NMDA 3B | 0 | 0 | 0 | 1 |
| GABA theta subunit | 1 | 0 | 0 | 1 |
| Carbonic anhydrase 4 | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 15 | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 13 | 0 | 0 | 0 | 1 |
| Gamma-aminobutyric acid receptor subunit epsilon | 1 | 0 | 0 | 1 |
| Glutamate receptor ionotropic, NMDA 3A | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 14 | 0 | 0 | 0 | 1 |
| Carbonic anhydrase 5B, mitochondrial | 0 | 0 | 0 | 1 |
| acetylcholinesterase | 1 | 0 | 0 | 1 |
| RAR-related orphan receptor gamma | 1 | 0 | 0 | 1 |
| AR protein | 1 | 0 | 0 | 1 |
| estrogen receptor 2 (ER beta) | 1 | 0 | 0 | 1 |
| cytochrome P450 family 3 subfamily A polypeptide 4 | 1 | 0 | 0 | 1 |
| retinoic acid nuclear receptor alpha variant 1 | 1 | 0 | 0 | 1 |
| estrogen-related nuclear receptor alpha | 1 | 0 | 0 | 1 |
| estrogen nuclear receptor alpha | 1 | 0 | 0 | 1 |
| cytochrome P450 2D6 | 1 | 0 | 0 | 1 |
| thyroid stimulating hormone receptor | 1 | 0 | 0 | 1 |
| v-jun sarcoma virus 17 oncogene homolog (avian) | 1 | 0 | 0 | 1 |
| cellular tumor antigen p53 isoform a | 1 | 0 | 0 | 1 |
| Integrin beta-3 | 1 | 0 | 0 | 1 |
| Integrin alpha-IIb | 1 | 0 | 0 | 1 |
| [prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023] |