GM1 gangliosidosis type 1
Findings
No curated finding names GM1 gangliosidosis type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.
Definition from the Mondo Disease Ontology (MONDO:0009260), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
59 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
- Obligate (100% of cases)
- Dysostosis multiplexHPOHP:0000943
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 119 of 119 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 119 of 119 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 111 of 115 reported patients
- HepatomegalyHPOHP:0002240
- 104 of 122 reported patients
Show the remaining 47
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- Very frequent (80% to 99% of cases)
- Increased urinary galactosylated oligosaccharideHPOHP:0410346
- Very frequent (80% to 99% of cases)
- Urinary glycosaminoglycan excretionHPOHP:0003541
- Very frequent (80% to 99% of cases)
- Aspiration pneumoniaHPOHP:0011951
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
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: GM1 gangliosidosis type 1
- Also called
- infantile GM1 gangliosidosisNorman-Landing disease