Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 12-02-2010
Symbol IVLG
Location 1q21.3
Name ichthyosis vulgaris, simplex
Corresponding gene FLG
Main clinical features
  • scaling skin disorder with the first skin involvement after the first 3 months of life and lesions rarely observed in the axillae or antecubital and popliteal fossae but the palms and soles often showing increased markings
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/loss of function R501X, mostly frequent, leading to impaired keratinization