Disorders of sphingolipid metabolism and other lipid storage disorders
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_SPHINGOLIP |
| Hospital Discharge registry | ICD-10: E75 |
| Cause of Death registry | ICD-10: E75 |
| Include | E4_GM2GANGLIO, E4_GANGLIOSID, E4_SPHIGLOLIPNAS, E4_NEUROCER, E4_LIPIDSTORNAS |
| Level in the ICD-hierarchy | 3 |
| First defined in version | DF2 |
Key figures
| Sex | All | Female | Male |
| Number of individuals | 30 | 16 | 14 |
| Unadjusted prevalence (%) | 0.02 | 0.02 | 0.02 |
| Mean age at first event (years) | 53.35 | 55.42 | 51.0 |
| Median number of events / individual | 1 | 1 | 1 |
Clinical metrics
| Sex | All | Female | Male |
| Recurrence within 6 months (%) | 30.0 | 31.25 | 28.57 |
| Case fatality at 5-years (%) | 6.67 | 12.5 | 0.0 |