KEGG   DISEASE: Lipodystrophy
Entry
H01475                      Disease                                
Name
Lipodystrophy;
Lipoatrophy
  Subgroup
Congential generalized lipodystrophy [DS:H00419]
Familial partial lipodystrophy [DS:H00420]
Mandibuloacral dysplasia-associated lipodystrophy [DS:H00665]
Acquired generalized lipodystrophy [DS:H01474]
Acquired partial lipodystrophy
HIV-associated lipodystrophy
Description
Lipodystrophies are a group of rare disorders characterized by selectively loss of fat tissue, which can be congential or acquired, and generalized or partial. People with the diseases more frequently appear severe metabolic abnormality including insulin resistance and its associated complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, polycystic ovaries, and acanthosis nigricans. Genetic predisposition to inherited lipodystrophies has been discovered. Compared with them, the causes of the acquired lipodystrophies are still unknown, but mainly related to autoimmune mechanism, medications or other unknown mechanisms.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01475  Lipodystrophy
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Skin disorders involving specific cutaneous structures
   Disorders of the dermis and subcutis
    Disorders of subcutaneous fat
     EF01  Lipoatrophy or lipodystrophy
      H01475  Lipodystrophy
Drug
Metreleptin [DR:D05014]
Comment
Lipodystrophy can be classified to the following subtypes.
Genetic forms: Congential generalized lipodystrophy (CGL), H00420 Familial partial lipodystrophy (FPL), H00665 Mandibuloacral dysplasia-associated lipodystrophy (MDAL)
Acquired forms: H01474 Acquired generalized lipodystrophy (AGL), Acquired partial, HIV-associated lipodystrophy
Other DBs
ICD-11: EF01
ICD-10: E88.1
MeSH: D008060
Reference
  Authors
Garg A
  Title
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
  Journal
J Clin Endocrinol Metab 96:3313-25 (2011)
DOI:10.1210/jc.2011-1159
Reference
  Authors
Bindlish S, Presswala LS, Schwartz F
  Title
Lipodystrophy: Syndrome of severe insulin resistance.
  Journal
Postgrad Med 127:511-6 (2015)
DOI:10.1080/00325481.2015.1015927
Reference
  Authors
Tchang BG, Shukla AP, Aronne LJ
  Title
Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives.
  Journal
Expert Opin Biol Ther 15:1061-75 (2015)
DOI:10.1517/14712598.2015.1052789
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