Ichthyosis, Congenital, Autosomal Recessive 4b (ARCI4B)

Ichthyosis, Congenital, Autosomal Recessive 4b, also known as harlequin ichthyosis, is related to ichthyosis, congenital, autosomal recessive 3 and ichthyosis, congenital, autosomal recessive 2. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 4b is ABCA12 (ATP Binding Cassette Subfamily A Member 12), and among its related pathways/superpathways are Keratinization and Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin and eye, and related phenotypes are recurrent respiratory infections and ichthyosis