DISEASES

Disease-gene associations mined from literature

Human genes for mucopolysaccharidosis IVA

Mucopolysaccharidosis IVA [DOID:0111391]

A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in GALNS on chromosome 16q24.3.

Synonyms:  mucopolysaccharidosis IVA,  DOID:0111391,  mucopolysaccharidosis IVAs,  GALNS deficiency,  Morquio A disease ...