/mucopolysaccharidosis type 2

mucopolysaccharidosis type 2

Rare Disease

MONDO:0010674

Also Known As

Hunter syndromeHunter's syndromeI2S deficiencyIDS deficiencyMPS 2MPS IIMPS II - Hunter syndromeMPS with skin involvementMPS2MPSIIMucopolysaccharidosis Type IISIDS deficiencyattenuated MPS (subtype; formerly known as mild MPS II)deficiency of iduronate-2-sulphataseiduronate 2-sulfatase deficiencymucopolysaccharidosis IImucopolysaccharidosis II, X-linked recessivemucopolysaccharidosis type 2mucopolysaccharidosis type IImucopolysaccharidosis with skin involvementmucopolysaccharidosis, MPS-IImucopolysaccharidosis, type 2mucopolysaccharidosis, type IIsevere MPS IIsulfoiduronate sulfatase deficiency

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.