Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Glycogen storage disease Type II (Pompe) - (AR) | 9.1 | | | acid alpha-glucosidase preproprotein
|
|
|  | Glycogen storage disease II -GSDII |
|
| Glycogen storage disease type IIIa - (AR) | 9.2 | | | Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
|
|
| | Glycogen storage disease type IIIa -GSD IIIa | | Glycogen storage disease type IIIb -GSD IIIb | | Glycogen storage disease type IIIc -GSD IIIc | | Glycogen storage disease type IIId -GSD IIId |
|
| Glycogen storage disease type IV - (AR) | 9.3 | | | glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
|
|
| | Glycogen branching enzyme deficiency -GSD IV |
|
| Glycogen storage disease Type V (McArdle) - (AR) | 9.4 | | | | McArdle disease -PYGM |
|
| Glycogen storage disease Type VII (Tarui) - (AR) | 9.5 | | | phosphofructokinase, muscle
|
|
| | Glycogen storage disease VII -PFKM |
|
| Posphoglycerate kinase deficiency - (XR) | 9.6 | | | phosphoglycerate kinase 1
|
|
| | Hemolytic anemia due to PGK deficiency -PGK1 | | Myoglobinuria/hemolysis due to PGK deficiency -PGK1 | | Phosphoglycerate kinase 1 pseudogene1 included -PGK1P1 | | Phosphoglycerate kinase 1 pseudogene2 included -PGK1P2 | | posphoglycerate kinase deficiency - |
|
| Phosphoglcerate mutase deficiency - (AR) | 9.7 | | | phosphoglycerate mutase 2 (muscle)
|
|
| | Myopathy due to phosphoglycerate mutase deficiency -PGAMM |
|
| Lactate dehydrogenase-A deficiency - (AR) | 9.8 | | | | Exertional myoglobinuria due to deficiency of LDH-A -LDHA |
|
| Enolase deficiency - (AD) | 9.9 | | | enolase 3, beta muscle specific
|
|
| | Enolase deficiency -ENO3 |
|
| Carnitine palmitoyl-transferase deficiency - (AR) | 9.10 | | | carnitine palmitoyltransferase II
|
|
| | CPT deficiency, hepatic, type II -CPT2 | | Hypoglycemia hypoketonic, with deficiency of carnitine palmitoyltransferase II -CPTase | | Myopathy due to CPT II deficiency -CPT2 |
|
| Primary systemic carnitine deficiency - (AR) | 9.11 | | | solute carrier family 22 member 5
|
|
| | Carnitine deficiency, systemic primary -CDSP |
|
| Carnitine acylcarnitine translocase deficiency - (AR) | 9.12 | | | carnitine-acylcarnitine translocase
|
|
| | Carnitine-acylcarnitine translocase deficiency -CACT |
|
| Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA - (AR) | 9.13 | | | electron-transfer-flavoprotein, alpha polypeptide
|
|
| | Multiple acyl-CoA dehydrogenase deficiency -MADD |
|
| Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - (AR) | 9.14 | | | electron-transfer-flavoprotein, beta polypeptide
|
|
| | Electron transfer flavoprotein, Beta polypeptide -ETFB |
|
| Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - (AR) | 9.15 | | | electron-transferring-flavoprotein dehydrogenase
|
|
| | Gluatric aciduria IIc, included -GAIIC | | multiple acyl-coa dehydrogenase deficiency -MADD |
|
| Acyl-CoA dehydrogenase (very long chain) deficiency (VLCAD deficiency) - (AR) | 9.16 | | | acyl-Coenzyme A dehydrogenase, very long chain
|
|
| | Acyl-CoA dehydrogenase (very long chain) deficiency -VLCAD |
|
| Triglyceride storage disease with impaired long-chain fatty acid oxidation (Chanarin-Dorfman syndrome) - (AR) | 9.17 | | | abhydrolase domain containing 5
|
|
| | Chanarin-Dorfman syndrome -CDS |
|
| Neutral lipid storage disease with myopathy without ichthyosis - (AR) | 9.18 | | | adipose triglyceride lipase (desnutrin)
|
|
| | neutral lipid storage disease without ichthyosis -NLSDM |
|
| Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (Lipid storage myopathy) - (AR) | 9.19 | | | electron-transferring-flavoprotein dehydrogenase
|
|
| | Gluatric aciduria IIc, included -GAIIC | | multiple acyl-coa dehydrogenase deficiency -MADD |
|
| Glycogen storage disease type 0 - (AR) | 9.20 | | | glycogen synthase 3
glycogen synthase 1 (muscle)
glycogen synthase 1 (muscle)
|
|
| | glycogen storage disease type 0 -GSD0b |
|
