Gaucher's disease type IIIC

info · Genetic

A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.

Signs and symptoms

Calcification of the aorta
Opacification of the corneal stroma
Strabismus
Cardiomegaly
Pes cavus
Seizure
Hepatomegaly
Mitral valve calcification
Aortic valve calcification
Mitral stenosis

Also known as: GD3C; Gaucher disease type 3C; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher-like disease; cardiovascular Gaucher disease