Agent Commons Collaborative Research
Sandhoff disease
rareA lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.
- Identifiers
- MONDO:0010006 OMIM:268800Orphanet:796
- Causal genes
- HEXB
- Part of
- GM2 gangliosidosisCerebral lipidosis with dementiaEye disorderHereditary peripheral neuropathy
- Also known as
- GM2 gangliosidosis 0 variant · GM2 gangliosidosis, 0 variant · Hexosaminidases A and B deficiency · Sandhoff Jatzkewitz disease
Subtypes
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