Tay-Sachs disease
MONDO:0010100Mondo
Findings
No curated finding names Tay-Sachs disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.
Definition from the Mondo Disease Ontology (MONDO:0010100), read 2026-09-29. CC BY 4.0.
Features
68 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.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormality of glycolipid metabolismHPOHP:0010969
- Very frequent (80% to 99% of cases)
- GM2-ganglioside accumulationHPOHP:0003495
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Progressive spasticityHPOHP:0002191
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Abnormal thalamic MRI signal intensityHPOHP:0012696
- Frequent (30% to 79% of cases)
- Aspiration pneumoniaHPOHP:0011951
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Cherry red spot of the maculaHPOHP:0010729
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
Reported absent (1)
- HepatosplenomegalyHPOHP:0001433
Show the remaining 56
- Difficulty climbing stairsHPOHP:0003551
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- FasciculationsHPOHP:0002380
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
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.
- HEXAHGNC:4878
- Definitive · ClinGen · Autosomal recessive · 2020
- 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
6 names
Resolves to: Tay-Sachs disease
- Also called
- disease, Tay-SachsGM2 gangliosidosis, B, B1 variantGM2-gangliosidosis, several formsHex A pseudodeficiencyhexosaminidase A deficiencyTay Sachs Disease