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GENATLAS PHENOTYPE
last update : 30/06/2006
Symbol FPLD3
Location 3p25
Name familial partial lipodystrophy, 3, Dunnigan type
Corresponding gene PPARG
Main clinical features
  • characterized by lipodystrophy of face and extremities, early childhood diabetes with extreme insulin resistance and hypertriglyceridemia leading to recurrent pancreatitis
    • Genetic determination autosomal dominant
    Function/system disorder dermatology
    endocrinology
    metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name peroxisome proliferator-activated receptor gamma, point mutations
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   haploinsufficiency leading to diminished transactivation capacity
    missense   haploinsufficiency R194W mutation disrupts the DNA binding activity