About: Berardinelli-Seip Congenital Lipodystrophy     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Berardinelli-Seip Congenital Lipodystrophy
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Berardinelli-Seip Congenital Lipodystrophy
UMLS_CUI
  • C0221032
FULL_SYN
  • Berardinelli-Seip Congenital LipodystrophyPTNCI
  • Congenital Generalized LipodystrophySYNCI
DEFINITION
  • A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus.NCI
code
  • C84594
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