This website provides information on patients with mutations in the SC4MOLgene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SC4MOLgene (also catalogued as MSMO1) is a multisystem disorder characterized by microcephaly, congenital cataracts, growth delay, and treatment refractory psoriasiform dermatitis. The severity of the disease is variable and can include other autoinflammatory symptoms such as rheumatoid arthritis.
Not all individuals with a mutation in the SC4MOLgene have all of these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SC4MOLgene.
Jerry Vockley, MD, PhD, University of Pittsburgh School of Medicine, Pittsburgh, USA, gerard.vockley@chp.edu