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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-03-2015
Symbol SMPS1
Location 11p15.5
Name Schimmelpenning syndrome 1
Corresponding gene HRAS
Main clinical features
  • association of nevus sebaceous with cerebral, ocular or skeletal defects
  • ocular abnormalities in the context of Schimmelpenning syndrome may include lipodermoids and coloboma; skeletal defects comprise incomplete formation of bony structures, hypoplastic bones, short stature and vitamin D–resistant hypophosphatemic rickets
  • Genetic determination not applicable
    Function/system disorder dermatology
    Type disease
    Remark(s) . cutaneous mosaicism for postzygotic activating mutations of HRAS and KRAS causes nevus sebaceous (PMID: 22683711))