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Tay-Sachs disease

What is Tay-Sachs disease?

A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the HEXA gene.

Other condition names

  • GM2 gangliosidosis, B, B1 variant
  • Hexosaminidase A deficiency

Inheritance type

Autosomal recessive

Age of Onset

  • All ages
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.