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GENATLAS PHENOTYPE
last update : 27-12-2017
Symbol PROTS
Location 14q32.33
Name Proteus syndrome
Corresponding gene AKT1
Main clinical features
  • severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations
  • partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies, and possible accelerated growth and visceral affections
  • Genetic determination not applicable
    Related entries . ELATTOPROTEUS syndrome
    Function/system disorder dermatology
    cardiovascular
    connective tissue
    Type malformation
    Remark(s) . mosaicism for a somatic activating mutation in the AKT1 gene (PMID: 21793738))