Sandhoff disease
Findings
No curated finding names Sandhoff disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:0010006), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cherry red spot of the maculaHPOHP:0010729
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Developmental regressionHPOHP:0002376
- 5 of 5 reported patients
- Exaggerated startle responseHPOHP:0002267
- 5 of 5 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- Reduced beta-hexosaminidase B activityHPOHP:0033978
- 5 of 5 reported patients
- Abnormal glycosphingolipid metabolismHPOHP:0004343
- Very frequent (80% to 99% of cases)
Show the remaining 16
- MacrocephalyHPOHP:0000256
- 2 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Motor deteriorationHPOHP:0002333
- Very frequent (80% to 99% of cases)
- Progressive psychomotor deteriorationHPOHP:0007272
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HEXBHGNC:4879
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Sandhoff disease
- Also called
- GM2 gangliosidosis 0 variantGM2 gangliosidosis, 0 variantHexosaminidases A and B deficiencySandhoff Jatzkewitz disease