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Disease Glycogen Storage Disease Type IV

Name Glycogen Storage Disease Type IV
Synonyms Amylopectinoses | Amylopectinosis | Andersen Disease | Andersen's Disease | Andersens Disease | Brancher Deficiencies | Brancher Deficiency | CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, CLASSIC HEPATIC, INCLUDED | Deficiencies, Brancher | Deficiencies, Gbe1 | Deficiency, Brancher | Deficiency, Gbe1 | Disease, Andersen | Disease, Andersen's | Gbe1 Deficiencies | Gbe1 Deficiency | Glycogen Branching Enzyme Deficiency | Glycogenoses, Type IV | Glycogenosis 4 | Glycogenosis 4s | Glycogenosis IV | Glycogenosis IVs | Glycogenosis, Type IV | GLYCOGEN STORAGE DISEASE IV | Glycogen Storage Disease Type 4 | GSD4 | GSD IV | GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED | GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED | GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED | GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED | GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED | Type IV Glycogenoses | Type IV Glycogenosis
Definition An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D006011
OMIM® ID 232500
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Top ↑ Ancestors

1. 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 IV Has associated chemicals Has associated genes
2. 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 IV Has associated chemicals Has associated genes

Top ↑ Descendants

Glycogen Storage Disease Type IV Has associated chemicals Has associated genes
  Cirrhosis, familial, with deposition of abnormal glycogen
  GSD IV, Classic Hepatic
  GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
  GSD IV, Neuromuscular Form, Childhood
  GSD IV, Neuromuscular Form, Congenital
  GSD IV, Neuromuscular Form, Fatal Perinatal
  GSD IV, Nonprogressive Hepatic