KEGG   DISEASE: Glycogen storage disease type VI
Entry
H01944                      Disease                                

Name
Glycogen storage disease type VI;
Hers disease
  Supergrp
Glycogen storage disease [DS:H00069]
Hepatic glycogen storage disease [DS:H01760]
Description
Glycogen storage disease type VI (GSD-VI), also known as Hers disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VI is caused by mutations in the PYGL gene, which encodes liver glycogen phosphorylase. It manifests in infants, primarily with hepatomegaly and growth retardation.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01944  Glycogen storage disease type VI
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H01944  Glycogen storage disease type VI
Pathway
hsa00500  Starch and sucrose metabolism
hsa04910  Insulin signaling pathway
hsa04922  Glucagon signaling pathway
Network
nt06017  Glycogen metabolism
  Element
N00723  PYGL deficiency in glycogen degradation
Gene
PYGL [HSA:5836] [KO:K00688]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D006013
OMIM: 232700
Reference
PMID:9529348
  Authors
Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW
  Title
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
  Journal
Am J Hum Genet 62:785-91 (1998)
DOI:10.1086/301790
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