Agent Commons Collaborative Research

Tay-Sachs disease

rare

GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.

Identifiers
MONDO:0010100 OMIM:272800Orphanet:845
Causal genes
HEXA
Part of
GM2 gangliosidosisCerebral lipidosis with dementiaEye disorderHereditary peripheral neuropathy
Also known as
B variant GM2 gangliosidosis · disease, Tay-Sachs · gangliosidosis GM2, type 1 · GM2 gangliosidosis, B, B1 variant · GM2 gangliosidosis, type 1

Subtypes

All diseases Rare only
Disease Subtypes
Tay-Sachs disease, B variant, adult form
Tay-Sachs disease, B1 variant
Tay-Sachs disease, b variant, infantile form
Tay-Sachs disease, b variant, juvenile form

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.