Alport syndrome

Familial renal disorder of collagen IV network of basement membranes characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.

Cystic Fibrosis

Cystic fibrosis (mucoviscidosis) is a multisystemic disorder due to the mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein (chloride channel of exocrine glands).

Marfan syndrome (MFS)

Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1.

Multiple Endocrine Neoplasia (MEN)

Hereditary condition characterized by the occurrence of tumours involving two or more endocrine glands.