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Condition report · Metabolic

Sandhoff Disease

Inherited GM2 gangliosidoses closely related to Tay-Sachs disease, caused by HEXB variants (Sandhoff disease) or GM2A variants (AB variant). Tay-Sachs disease has its own report.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The 2 conditions we analyse

Sandhoff disease

Autosomal recessive

Deficiency of both hexosaminidase A and B causes progressive neurological decline, exaggerated startle and cherry-red spots in infants, with juvenile and adult forms causing ataxia, weakness or psychiatric symptoms.

What a diagnosis changes

Treatment is supportive; carrier testing of relatives is possible once the familial variants are known.

Genes analysed

Also known as

GM2 gangliosidosis 0 variant; GM2 gangliosidosis, 0 variant; Hexosaminidases A and B deficiency; Sandhoff Jatzkewitz disease

Includes 3 related subtypes ↓
  • Sandhoff disease, adult form
  • Sandhoff disease, infantile form
  • Sandhoff disease, juvenile form
MONDO:0010006OMIM 268800Orphanet 796MedGen 11313

GM2 activator deficiency (Tay-Sachs disease AB variant)

Autosomal recessive

A rare form clinically similar to infantile Tay-Sachs disease with normal hexosaminidase activity, caused by GM2A variants.

Genes analysed

Also known as

hexosaminidase activator deficiency

MONDO:0010099OMIM 272750Orphanet 309246MedGen 78657

Limitations

  • A common HEXB deletion of about 16 kb causes many cases of Sandhoff disease; large deletions may not be reliably detected by short-read sequencing.

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