DISEASES

Disease-gene associations mined from literature

Human genes for Tay-Sachs disease

Tay-Sachs disease [DOID:3320]

A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.

Synonyms:  Tay-Sachs disease,  DOID:3320,  TaySachs disease,  Tay-Sachs disorder,  Tay-Sachs syndrome ...

Linkouts:  OMIM