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GENATLAS PHENOTYPE

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

Remark(s)