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GENATLAS PHENOTYPE
last update : 18-03-2009
Symbol INSRDA
Location 19p13.2
Name insulin-resistant diabetes mellitus with acanthosis nigricans
Corresponding gene INSR
Main clinical features
  • type A, a syndrome of younger females with signs of virilization and accelerated growth in whom a defect in cell receptors for insulin may be primary
  • type B, in older females with signs of an immunologic disease in whom circulating antibodies to the insulin receptor
  • mild diabetes in combination with acanthosis nigricans and minor physical abnormalities: bitemporal narrowing of the skull, paucity of body fat, acral hypertrophy (enlarged ears, nose, chin, and finger tips), brachydactyly, protrusion of the eye globes, and dental anomalies
  • Genetic determination not applicable
    Function/system disorder endocrinology
    Type disease
    Remark(s)