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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type II
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type II

Preferred term

Glycogen Storage Disease Type II  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Acid Alpha-Glucosidase Deficiencies
  • Acid Alpha Glucosidase Deficiency
  • Acid Alpha-Glucosidase Deficiency
  • Acid Maltase Deficiency Disease
  • Alpha-Glucosidase Deficiencies
  • Alpha-Glucosidase Deficiencies, Acid
  • Alpha-Glucosidase Deficiency
  • Alpha-Glucosidase Deficiency, Acid
  • Deficiencies, Acid Alpha-Glucosidase
  • Deficiencies, GAA
  • Deficiency, Acid Alpha-Glucosidase
  • Deficiency Disease, Acid Maltase
  • Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
  • Deficiency, GAA
  • Deficiency of Alpha Glucosidase
  • Deficiency of Alpha-Glucosidase
  • Disease, Pompe
  • Disease, Pompe's
  • GAA Deficiencies
  • GAA Deficiency
  • Generalized Glycogenoses
  • Generalized Glycogenosis
  • Glycogenoses, Generalized
  • Glycogenosis 2
  • Glycogenosis, Generalized
  • Glycogenosis Type II
  • Glycogen Storage Disease II
  • Glycogen Storage Disease Type 2
  • GSD2
  • GSD2s
  • GSD II
  • Lysosomal alpha 1,4 Glucosidase Deficiency Disease
  • Lysosomal alpha-1,4-Glucosidase Deficiency Disease
  • Pompe Disease
  • Pompe's Disease
  • Pompes Disease
  • Type II, Glycogenosis
  • Type IIs, Glycogenosis

Scope note

  • An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)

History note

  • 1989(1975); use GLYCOGENOSIS 1975-1988

In other languages

  • glykogenoosi II

    Finnish

  • dekstrinoosi II
  • dekstrinoosi tyyppi II
  • glykogenoosi tyyppi II
  • morbus Pompe
  • Pompe
  • Pompen tauti
  • tyypin II dekstrinoosi
  • tyypin II glykogenoosi
  • tyyppi II dekstrinoosi
  • tyyppi II glykogenoosi
  • Glykogeninlagringssjukdom typ II

    Swedish

  • Glykogenos 2
  • Glykogenos typ II
  • Pompes sjukdom
  • Surt maltasbrist

URI

http://www.yso.fi/onto/mesh/D006009

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