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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 17/07/2006
Symbol KFSD
Location Xp22.13
HGNC id 6313
Name keratosis follicularis spinulosa decalvans
Other name(s) keratosis follicularis spinulosa decalvans cum ophiasi
Corresponding gene SAT1
Main clinical features
  • follicular hyperkeratosis with scarring alopecia, especially of the scalp and eyebrows . associated to corneal dystrophy, Siemens 1 syndrome
    • Genetic determination sex linked
    Function/system disorder eye
    dermatology
    Type disease
    Gene product
    Name spermidine/spermine N1-acetyltransferase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function overexpressed in KFSD