Ciliopathies

Genetically heterogeneous group of disorders that are caused by mutations in genes with products that localize to the cilium–centrosome complex. Physiology Cilia structure: Cilia are hair-like organelles projecting from the apical surface of polarized cells. Whether in single-celled organisms or in mammals, the form and function of cilia have been conserved over the course of…

Organic acid disorders (OADs)

Inborn errors of metabolism (IEM) affecting enzymes and/or transport proteins required for catabolism of amino acids (AAs), lipids, or carbohydrates lead to pathologic buildup of upstream substrates/metabolites resulting in the clinical manifestations of organic acid disorders (OADs), also known as organic acidemias or acidurias.

Denys-Drash syndrome (DDS)

Rare genetic condition caused by mutations in WT-1 (11p13), a tumor-suppressor gene involved in gonadal development

Ectodermal dysplasia (ED)

Rare heterogeneous group of inherited disorders characterized by dysplasia of tissues of ectodermal origin including skin, teeth, hair, nails, and eccrine glands.