KEGG   DISEASE: Neutral lipid storage disease with myopathy
Entry
H01297                      Disease                                
Name
Neutral lipid storage disease with myopathy
Description
Neutral lipid storage disease with myopathy (NLSDM) comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Neutral lipid storage disease with myopathy is the subgroup of NLSDM, characterized by mild myopathy, absence of ichthyosis and mutations in adipose triglyceride lipase (PNPLA2).
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H01297  Neutral lipid storage disease with myopathy
Pathway
hsa04923  Regulation of lipolysis in adipocytes
hsa00561  Glycerolipid metabolism
Gene
PNPLA2 [HSA:57104] [KO:K16816]
Comment
Dorfman-Chanarin syndrome [DS:H00736] is defined as an NLSD with ichthyosis.
Other DBs
ICD-11: 5C52.2
ICD-10: E75.5
MeSH: C565192
OMIM: 610717
Reference
PMID:17187067 (PNPLA2)
  Authors
Fischer J, Lefevre C, Morava E, Mussini JM, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R
  Title
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
  Journal
Nat Genet 39:28-30 (2007)
DOI:10.1038/ng1951
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