Sphingolipidosis, other/unspecified
Description
Niemann-Pick disease: A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.
Data source
| FinnGen phenocode | E4_SPHIGLOLIPNAS |
| Hospital Discharge registry | ICD-10: E752/E753, ICD-8: 2728[1-2] |
| Cause of Death registry | ICD-10: E753/E752, ICD-8: 2728[1-2] |
| Level in the ICD-hierarchy | 4 |
| First defined in version | DF2 |
Key figures
| Sex | All | Female | Male |
| Number of individuals | 15 | 9 | 6 |
| Unadjusted prevalence (%) | 0.01 | 0.01 | 0.01 |
| Mean age at first event (years) | 48.67 | 51.66 | 44.2 |
| Median number of events / individual | 1 | 1 | 1 |
Clinical metrics
| Sex | All | Female | Male |
| Recurrence within 6 months (%) | 46.67 | 44.44 | 50.0 |
| Case fatality at 5-years (%) | 6.67 | 11.11 | 0.0 |