| Item | Value | Evidence/source (with citation IDs) | URL (if in evidence) |
|---|---|---|---|
| Disease name | GM1 gangliosidosis type 1 | OpenTargets disease association lists “GM1 gangliosidosis type 1” with MONDO_0009260; clinical literature describes Type 1 as the infantile form (pqac-00000000, pqac-00000025, pqac-00000026) | https://platform.opentargets.org |
| MONDO ID | MONDO:0009260 | OpenTargets context for “GM1 gangliosidosis type 1” (pqac-00000000) | https://platform.opentargets.org |
| OMIM / MIM | MIM #230500 | Lang 2020 introduction: “GM1 gangliosidosis (MIM# 230500)” (pqac-00000026) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Key causal gene | GLB1 (galactosidase beta 1) | GM1 is caused by biallelic GLB1 mutations causing β-galactosidase deficiency (pqac-00000025, pqac-00000026, pqac-00000028) | https://doi.org/10.3389/fgene.2021.734878 |
| Common synonyms | Infantile GM1 gangliosidosis; Type I GM1 gangliosidosis; early onset infantile GM1 gangliosidosis; GLB1 deficiency | Sources classify disease as Type I/infantile and note “GLB1 deficiency” as a condition label (pqac-00000022, pqac-00000025, pqac-00000027) | https://clinicaltrials.gov/study/NCT04713475 |
| Short definition | Progressive neuronopathic lysosomal storage disorder caused by β-galactosidase deficiency, leading to accumulation of GM1 ganglioside and other β-linked galactose-containing substrates; infantile/type I is the most severe form | Review and mini-review definitions (pqac-00000025, pqac-00000026, pqac-00000028) | https://doi.org/10.2147/TACG.S206076 |
| Mean age at first symptom onset | 2.8 months (median 2.5; range 0–11) | Literature-based meta-analysis of 154 Type 1 cases (pqac-00000001) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Mean age at first hospital admission | 6.3 months (median 6.0; range 0–24) | Lang 2020 natural history meta-analysis (pqac-00000001) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Mean age at diagnosis | 8.7 months (median 8.0; range 0–30) | Lang 2020 reports “average age of diagnosis was 8.7 months” (pqac-00000026, pqac-00000001) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Diagnostic delay from first symptoms | 5.9 months | Lang 2020 meta-analysis (pqac-00000001) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Mean age at death | 18.9 months (median 20.0; range 2–35) | Lang 2020 reports “average age of death was 18.9 months” (pqac-00000026, pqac-00000001) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Survival pattern | 96% alive before 12 months; >50% die between 12 and 24 months; life expectancy <3 years | Lang 2020 and review summary (pqac-00000007, pqac-00000026) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Median survival in early-onset GM1 cohort | 19.0 months (95% CI 18.0–22.0) | RETRIEVE natural history study, Group A, 60 GM1 patients (pqac-00000029) | https://doi.org/10.1186/s13023-024-03409-1 |
| Developmental delay / mental retardation frequency | 100% | Lang 2020 Table 1, Type 1 frequency summary (pqac-00000003, pqac-00000020) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Hypotonia frequency | 96% | Lang 2020 Table 1, Type 1 frequency summary (pqac-00000003, pqac-00000020) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Dysmorphic / coarse facial features frequency | 87% | Lang 2020 Table 1, Type 1 frequency summary (pqac-00000003, pqac-00000020) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Hepatosplenomegaly frequency | 85% | Lang 2020 Table 1, Type 1 frequency summary (pqac-00000003, pqac-00000020) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Skeletal abnormalities frequency | 82% | Lang 2020 Table 1, Type 1 frequency summary (pqac-00000003, pqac-00000020) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Cherry-red spot frequency | 59% | Lang 2020 Table 1, Type 1 frequency summary (pqac-00000003, pqac-00000020) | https://doi.org/10.1016/j.ymgme.2019.12.012 |
| Seizure frequency | 9% | Lang 2020 Table 1, Type 1 frequency summary; later onset around 10–12 months noted in meta-analysis (pqac-00000003, pqac-00000001) | https://doi.org/10.1016/j.ymgme.2019.12.012 |


*Table: This table condenses identifiers, nomenclature, core definition, key natural-history statistics, and major phenotype frequencies for GM1 gangliosidosis type 1 (infantile). It is useful as a compact evidence-backed reference for disease knowledge base population.*