ORPHA:309152
GM2 gangliosidosis
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GM2 gangliosidosis | |
| fr | Gangliosidose à GM2 | |
| de | GM2-Gangliosidose | |
| es | Gangliosidosis GM2 | |
| it | Gangliosidosi GM2 | |
| nl | GM2-gangliosidose | |
| pt | Gangliosidose GM2 | |
| pl | Gangliozydoza GM2 | |
| cs | GM2 gangliosidóza | |
| uk | GM2 гангліозидоз | |
| zh | GM2神经节苷脂贮积症 | |
| tr | GM2 gangliosidoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E75.0 | E | specific | validated |
| ICD-11 | 5C56.00 | NTBT | index | validated |
| MONDO | 0017720 | E | validated | |
| MONDO | 17720 | E | validated | |
| MeSH | D020143 | E | validated | |
| UMLS | C0268274 | E | validated | |
| MedDRA | 10083933 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:309144Gangliosidosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare transplant-related disorders - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.87 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | European Medecines Agency 2017[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309152
- This record as JSON: /data/d/309152.json