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Disease Glycogen Storage Disease Type IIb

Name Glycogen Storage Disease Type IIb
Synonyms Antopol Disease | Cardiomyopathies, Glycogen Storage | Cardiomyopathy, Glycogen Storage | Danon Disease | Disease, Antopol | Glycogen Storage Cardiomyopathies | Glycogen Storage Cardiomyopathy | Glycogen Storage Disease IIb | Glycogen Storage Disease Limited to the Heart | Glycogen Storage Disease Type 2B | GSD2B, FORMERLY | GSD IIb, FORMERLY | Lysosomal Glycogen Storage Disease with Normal Acid Maltase | Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency | LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY | Pseudoglycogenosis 2 | Pseudoglycogenosis 2s | Pseudoglycogenosis II | Pseudoglycogenosis IIs | Vacuolar Cardiomyopathy and Myopathy, X linked | Vacuolar Cardiomyopathy and Myopathy, X-linked | X Linked Vacuolar Cardiomyopathy and Myopathy | X-Linked Vacuolar Cardiomyopathy and Myopathy
Definition An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.
Categories Cardiovascular disease | Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D052120
OMIM® ID 300257
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Mental Retardation, X-Linked Has associated chemicals Has associated genes Glycogen Storage Disease Type IIb Has associated chemicals Has associated genes
2. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Diseases Has associated chemicals Has associated genes Has associated exposure references Cardiomyopathies Has associated chemicals Has associated genes Glycogen Storage Disease Type IIb 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 Genetic Diseases, X-Linked Has associated chemicals Has associated genes Glycogen Storage Disease Type IIb 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 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 IIb 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 IIb Has associated chemicals Has associated genes

Top ↑ Descendants

None.