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GENATLAS PHENOTYPE
last update : 03/10/2008
Symbol MCAS
Location 20q13.32
Name McCune-Albright syndrome
Other name(s)
  • polyostotic fibrous dysplasia
  • Albright syndrome
    • Corresponding gene GNAS
    Main clinical features
  • classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty associated or not with early cholestasis
  • can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome
  • hypophosphatemic osteomalacia ('rickets') observed in some cases of polyostotic fibrous dysplasia, large cafe-au-lait spots with irregular margins, giving them a 'coast of Maine' configuration
    • Genetic determination autosomal dominant
    Related entries including isolated bone fibrous dysplasia
    Function/system disorder osteo-articular
    endocrinology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function mosaic activating mutation in maternal allele
    Remark(s) proteiform disease due to postzygotic, somatic mutations at codon R201 of the GNAS gene that results in cellular mosaicism