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GENATLAS PHENOTYPE
last update : 21-04-2011
Symbol IGF1D
Location 12q23.2
Name insulin-like growth factor I deficiency
Corresponding gene IGF1
Main clinical features
  • severe prenatal and postnatal growth failure, sensorineural deafness, and mental retardation, with behavioral difficulties including hyperactivity and short attention span, mild facial dysmorphism
  • osteoporosis, partial gonadal dysfunction, and a relatively well-preserved cardiac function
  • serum basal and stimulated growth hormone levels were increased and serum IGF1 was decreased
    • Genetic determination autosomal recessive
    Related entries . heterozygosity for a novel IGF1 mutation, presumably in combination with other genetic factors for short stature, leads to severe short stature, which can be successfully treated with GH (PMID: 20668042)
    Function/system disorder endocrinology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein  
    Remark(s)