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 |
|
| Glycogen storage disease type IXd (ex type VIII) or muscle phosphorylase kinase defiency - (XR) | 9.6 | | | phosphorylase b kinase, alpha submit
|
|
| | * glycogen storage disease, type IXD - GSD9D |
|
| Glycogenosis type XIV - (AR) | 9.7 | | | | * Glycogen storage disease XIV - GSD14 |
|
| Glycogenosis type XV - (AR) | 9.8 | | | | * Glycogen storage disease XV - GSD15 |
|
| Glycogen storage disease type 0 - (AR) | 9.9 | | | glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)
|
|
| | * glycogen storage disease type 0 - GSD0b |
|
| Glycogen storage disease of heart, lethal congenital - (AD) | 9.10 | | | protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
| | * Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 | | * glycogen storage disease of heart, lethal congenital |
|
| Phosphoglycerate kinase deficiency - (XR) | 9.11 | | | 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 |
|
| Phosphoglycerate mutase deficiency - (AR) | 9.12 | | | phosphoglycerate mutase 2 (muscle)
|
|
| | * Glycogen storage disease X - GSD10 | | * Myopathy due to phosphoglycerate mutase deficiency - PGAMM |
|
| Lactate dehydrogenase-A deficiency - (AR) | 9.13 | | | | * Exertional myoglobinuria due to deficiency of LDH-A - LDHA | | * Glycogen storage disease XI - GSD11 |
|
| Enolase deficiency - (AD) | 9.14 | | | enolase 3, beta muscle specific
|
|
| | * Enolase deficiency - ENO3 | | * Glycogen storage disease XIII - GSD13 |
|
| Carnitine palmitoyl-transferase deficiency - (AR) | 9.15 | | | 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) | 9.16 | | | solute carrier family 22 member 5
|
|
| | * Carnitine deficiency, systemic primary - CDSP |
|
| Carnitine acylcarnitine translocase deficiency - (AR) | 9.17 | | | carnitine-acylcarnitine translocase
|
|
| | * Carnitine-acylcarnitine translocase deficiency - CACT |
|
| Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA - (AR) | 9.18 | | | electron-transfer-flavoprotein, alpha polypeptide
|
|
| | * Multiple acyl-CoA dehydrogenase deficiency - MADD |
|
| Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - (AR) | 9.19 | | | electron-transfer-flavoprotein, beta polypeptide
|
|
| | * Electron transfer flavoprotein, Beta polypeptide - ETFB |
|
| Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - (AR) | 9.20 | | | 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) | 9.21 | | | 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) | 9.22 | | | abhydrolase domain containing 5
|
|
| | * Chanarin-Dorfman syndrome - CDS |
|
| Neutral lipid storage disease with myopathy without ichthyosis - (AR) | 9.23 | | | adipose triglyceride lipase (desnutrin)
|
|
| | * Neutral lipid storage disease without ichthyosis - NLSDM |
|
| Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (Lipid storage myopathy) - (AR) | 9.24 | | | electron-transferring-flavoprotein dehydrogenase
|
|
| | * Gluatric aciduria IIc, included - GAIIC | | * Multiple acyl-coa dehydrogenase deficiency - MADD |
|
| Reccurrent myoglobinuria, autosomal recessive - (AR) | 9.25 | | | Lipin 1 (phosphatidic acid phosphatase 1)
|
|
| | * Reccurrent myoglobinuria, autosomal recessive |
|
