KEGG   DISEASE: Glycogen storage disease type XV
Entry
H01955                      Disease                                

Name
Glycogen storage disease type XV
  Supergrp
Glycogen storage disease [DS:H00069]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentation is muscle weakness and cardiomyopathy.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01955  Glycogen storage disease type XV
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
     H01955  Glycogen storage disease type XV
Pathway
hsa00500  Starch and sucrose metabolism
Network
nt06017  Glycogen metabolism
  Element
N00717  GYG1 deficiency in glycogen biosynthesis
Gene
GYG1 [HSA:2992] [KO:K00750]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
OMIM: 613507
Reference
  Authors
Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A
  Title
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
  Journal
N Engl J Med 362:1203-10 (2010)
DOI:10.1056/NEJMoa0900661
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