Mucopolysaccharidosis type 2
Mucopolysaccharidosis type 2
Definition
A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.
Also known as attenuated MPS (subtype; formerly known as mild MPS II), Hunter syndrome, Hunter's syndrome, I2S deficiency, IDS deficiency, iduronate 2-sulfatase deficiency, MPS 2, MPS II, MPS with skin involvement, MPS2, MPSII, mucopolysaccharidosis II, X-linked recessive, mucopolysaccharidosis type 2, Mucopolysaccharidosis Type II, mucopolysaccharidosis with skin involvement, mucopolysaccharidosis, type 2, mucopolysaccharidosis, type II, severe MPS II, SIDS deficiency, sulfoiduronate sulfatase deficiency — per MONDO