Ichthyosis and erythrokeratoderma
Gene: SDR9C7
Associated with phenotype in OMIM, not in G2P. At least 3 variants reported in three unrelated families with Autosomal Recessive Congenital Ichthyosis. Supporting functional studies also included in PMID 28173123Created: 17 Aug 2017, 4:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, congenital, autosomal recessive 13 617574
Publications
PMID:28173123 (Shigehara et al., 2016) report 3 consanguineous families with autosomal recessive congenital ichthyosis (ARCI) and homozygous mutations in SDR9C7. Affected individuals in all the three families have had dry skin with large scales on the whole body surface, hyperkeratosis over elbows and knees, palmoplantar keratoderma and recurrent dermatophytic infections of the skin and onychomycosis.Created: 22 Jun 2017, 2:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal Recessive Congenital Ichthyosis (includes palmoplantar keratoderma); ARCI
Publications
Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 617574 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
gene: SDR9C7 was added gene: SDR9C7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDR9C7 were set to 28173123; 28369735 Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 617574