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Disease Glycogen Storage Disease Type VII

Name Glycogen Storage Disease Type VII
Synonyms Deficiencies, Muscle Phosphofructokinase | Deficiencies, Pfkm | Deficiency, Muscle Phosphofructokinase | Deficiency, Pfkm | Disease, Tarui | Disease, Tarui's | Glycogenosis 7 | Glycogen Storage Disease VII | GSD7 | GSD VII | Muscle Phosphofructokinase Deficiencies | Muscle Phosphofructokinase Deficiency | Pfkm Deficiencies | Pfkm Deficiency | Phosphofructokinase Deficiencies, Muscle | Phosphofructokinase Deficiency, Muscle | Tarui Disease | Tarui's Disease | Taruis Disease
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease | Musculoskeletal disease | Nervous system disease
MeSH® ID D006014
OMIM® ID 232800
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Muscular Disorders, Atrophic Has associated chemicals Has associated genes Muscular Dystrophies Has associated chemicals Has associated genes Glycogen Storage Disease Type VII Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Muscular Disorders, Atrophic Has associated chemicals Has associated genes Muscular Dystrophies Has associated chemicals Has associated genes Glycogen Storage Disease Type VII Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Glycogen Storage Disease Has associated chemicals Has associated genes Glycogen Storage Disease Type VII Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Muscular Dystrophies Has associated chemicals Has associated genes Glycogen Storage Disease Type VII Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Glycogen Storage Disease Has associated chemicals Has associated genes Glycogen Storage Disease Type VII Has associated chemicals Has associated genes

Top ↑ Descendants

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