No definition available.
Disorders of sphingolipid metabolism and other lipid storage disorders
E4_SPHINGOLIP
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
119 |
6. Filter based on genotype QC (FinnGen only) |
113 |
Control definitions (FinnGen only)
Control exclude
E4_METABOLIA
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E70-E90
Name in latin
Perturbationes metabolismi sphingolipidorum et aliae perturbationes accumulationis lipidorum
Similar endpoints
↥List of similar endpoints to
Disorders of sphingolipid metabolism and other lipid storage disorders
based on the number of shared cases.
Similar with more cases:
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1246 | 706 | 535 |
| Only index persons | 803 | 474 | 329 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.01 |
| Only index persons | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 36.20 | 39.79 | 31.10 |
| Only index persons | 46.79 | 48.86 | 43.80 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 113 | 68 | 45 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 54.94 | 54.49 | 55.62 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
No data
Mortality – FinRegistry
↥Association
Association between endpoint E4_SPHINGOLIP and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_SPHINGOLIP | 3.646 [2.73, 4.87] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.732 |
During the follow-up period (1.1.1998 — 31.12.2019), 168 out of 492 females with E4_SPHINGOLIP died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_SPHINGOLIP | 3.928 [2.65, 5.83] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.021 |
During the follow-up period (1.1.1998 — 31.12.2019), 135 out of 358 males with E4_SPHINGOLIP died.
Mortality risk
Mortality risk for people of age
years, who have E4_SPHINGOLIP.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.297% | 0.842% |
| 5 | 2.115% | 4.462% |
| 10 | 5.718% | 11.325% |
| 15 | 11.212% | 20.673% |
| 20 | 19.21% | 34.437% |
Relationships between endpoints
↥Index endpoint: E4_SPHINGOLIP – Disorders of sphingolipid metabolism and other lipid storage disorders
GWS hits: 1
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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