Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 11-06-2010
Symbol CGL4
Location 17q21
Name congenital generalized lipodystrophy type 4
Corresponding gene PTRF
Main clinical features
  • combines the phenotype of classic Berardinelli-Seip lipodystrophy (269700) with muscular dystrophy and cardiac conduction anomalies
  • congenital generalized lipodystrophy as well as striking abnormalities in both skeletal and nonskeletal muscle, including reduced exercise tolerance and percussion myoedema, long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycardias
  • cardiac abnormalities with cardiac hypertrophy and arrhythmias were features later in childhood, including a history of sudden death, impaired bone formation with osteopenia, osteoporosis, and atlanto-axial instability
  • lack more than 97 p100 of caveolae
  • Genetic determination autosomal recessive
    Related entries phenotype including lipodystrophy, hypertriglyceridemia, pyloric stenosis, atlantoaxial instability, cardiac arrhythmia, acanthosis nigricans and myopathy
    Function/system disorder connective tissue
    Type disease