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GENATLAS PHENOTYPE
last update : 07-06-2023
Symbol FPLD2
Location 1q22
Name familial partial lipodystrophy
Other name(s)
  • lipodystrophy, familial partial, Dunnigan type
  • lipodystrophy, familial, of limbs and lower trunk
  • lipoatrophic, reverse partial
    • Corresponding gene LMNA
    Other symbol(s) FPL
    Main clinical features
  • gradual dystrophy of subcutaneous adipose tissue in the limbs and trunk, during puberty and adolescence associated to insulin resistance, hyperinsulinemia, hypertension, dyslipidemia, diabetes
  • also form with atypical fat distribution, insulin resistance, severe aortic stenosis and hypertrophic cardiomyopathy (PMID: 18031308))
    • Genetic determination autosomal dominant
    Related entries . including any cases of SEIP syndrome . including metabolic syndrome, without obvious clinical lipoatrophy but with insulin resistance syndromes, subclinical lipodystrophy, muscular hypertrophy, myalgias, or weakness
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name lamin A/C
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   unknown affecting codon 482 or nearby residues (exon 8) in the nuclear localization signal (NLS) or Ig. fold ddomain, also in C terminal domain of actin with SREBF1
    Remark(s)
  • targeting of ITM2A or its related pathways, including autophagy, may have potential as a therapy for FPLD2 (PMID: 2872940)