DISEASES

Disease-gene associations mined from literature

Human genes for congenital sucrase-isomaltase deficiency

Congenital sucrase-isomaltase deficiency [DOID:0111633]

A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.

Synonyms:  congenital sucrase-isomaltase deficiency,  congenital sucraseisomaltase deficiency,  congenital sucrase-isomaltase deficiencies,  DOID:0111633,  congenital sucrase-isomaltose malabsorption ...