GM1 gangliosidosis type 3
Findings
No curated finding names GM1 gangliosidosis type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0009262), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- Decreased beta-galactosidase activityHPOHP:0008166
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
- PlatyspondylyHPOHP:0000926
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 2 of 3 reported patients
- VentriculomegalyHPOHP:0002119
Show the remaining 4
- MyoclonusHPOHP:0001336
- 0 of 3 reported patients
- SeizureHPOHP:0001250
- 0 of 3 reported patients
- SplenomegalyHPOHP:0001744
- 0 of 3 reported patients
- HyperreflexiaHPOHP:0001347
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.
- GLB1HGNC:4298
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: GM1 gangliosidosis type 3
- Also called
- adult-onset GM1 gangliosidosis