Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha.

Name Development Level Target Family
Name Description
TCRDv4.6.9
UniProt Disease
DisGeNET
CLINVAR
ORPHANET
UNIPROT
Monarch