Autosomal recessive congenital ichthyosis

Gene: ST14

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 1/4 sources. Reviewer suggested this gene and recommended Green. It is associated with congenital, autosomal recessive Ichthyosis 11 with hypotrichosis (OMIM 602400), which overlaps with autosomal recessive congenital ichthyosis. Numerous variants reported.

Created: 8 Jun 2016, 10:43 a.m.

Green List (high evidence)

ST14 causes autosomal recessive ichthyosis with hypotrichosis - there is a clinical overlap with ARCI bit the additional hair features are integral - so some overlap with ARCI - maybe level 2 evidence. For ST14, again the skin is definitely ARCI with the additional finding of hypotrichosis - although it is quite common for all types of ARCI to have transient hair loss in early life because of the redness and systemic inflammation - but for ST14 cases the hypotrichosis persists and worsens slightly after the redness has gone.

Created: 18 Nov 2015, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARCI with hypotrichosis; ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE