DISEASES

Disease-gene associations mined from literature

Human genes for mucopolysaccharidosis IV

Mucopolysaccharidosis IV [DOID:12804]

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.

Synonyms:  mucopolysaccharidosis IV,  DOID:12804,  mucopolysaccharidosis IVs,  deficiency of chondroitinsulphatase,  deficiency of N-acetylgalactosamine-6-sulphatase ...

Linkouts:  OMIM #1 #2