Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 24-09-2019

Symbol	HXALI
Location	19p13.3
Name	hepoxilin A3 synthase-linked ichthyosis
Corresponding gene	GPX4
Main clinical features	ichthyosis with onset in infancy around 1-2 years, mild symptoms, such as light scaling, on the lower legs and lower arms growing age the scaling became dark brown, thick and more adherent histologically, mild hyperkeratosis, thinned and occasionally missing granular layer, but also broadened and thickened granular layer and mild to increased atrophy of the epidermis
Genetic determination	not applicable
Function/system disorder
Type	disease

Remark(s)