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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-02-2013
Symbol HTSS1
Location 6p21.33
Name hypotrichosis simplex of the scalp 1
Other name(s) hypotrichosis, spanish type, hypotrichosis 2
Corresponding gene CDSN
Other symbol(s) HYPT2
Main clinical features
  • can affect all body hair or be limited to the scalp; scalp-limited form of hypotrichosis present with normal hair at birth, with a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade; sparse, fine, short hairs remain in some individuals
  • amyloidosis related to the aggregation of natively unfolded (mut)CDSN polypeptides into amyloid fibrils
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name corneodesmosin