No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
69 |
4. Check minimum number of eventsNone |
69 |
5. Include endpointsNone |
69 |
6. Filter based on genotype QC (FinnGen only) |
69 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Sphingolipidosis, other/unspecified
based on the number of shared cases.
Similar with more cases:
- Disorders of sphingolipid metabolism and other lipid storage disorders
- 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 | 476 | 287 | 184 |
| Only index persons | 327 | 216 | 111 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 41.58 | 47.56 | 31.35 |
| Only index persons | 45.49 | 49.01 | 38.63 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 69 | 51 | 18 |
| Unadjusted period prevalence (%) | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | 46.03 | 46.61 | 44.37 |
-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
No data
-FinnGen-
Cumulative Incidence Function
No data
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 64
- Matched controls
- 638
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E75.2
ICD-10 Finland
Other sphingolipidosis
+∞
74.0
56
*
N08.4*E75.2
ICD-10 Finland
Glomerular disorders in Fabry(-Anderson) disease
+∞
19.8
18
*
Z31.5
ICD-10 Finland
Genetic counselling
29.0
17.1
23
12
N08.4
ICD-10 Finland
Glomerular disorders in other endocrine, nutritional and metabolic diseases
+∞
12.9
12
*
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
130.5
10.8
11
*
195
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
9.6
9
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
6.9
9.2
25
54
336
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
7.4
7
*
E75.3
ICD-10 Finland
Sphingolipidosis, unspecified
+∞
7.4
7
*
151
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
9.1
6.9
14
19
XF404
NOMESCO Finland
Ambulatory ECG
8.6
6.7
14
20
Z01.1
ICD-10 Finland
Examination of ears and hearing
5.6
6.6
20
48
WX892
NOMESCO Finland
Monitored bed care
9.3
6.5
13
17
6AB04
NOMESCO Finland
NA
+∞
6.3
6
*
A16AB04
ATC
agalsidase beta; parenteral
+∞
6.3
6
*
333
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
6.3
6
*
XF402
NOMESCO Finland
ECG with work load test
7.5
6.1
14
23
ZX120
NOMESCO Finland
Intravenous
6.3
6.1
16
32
Mortality – FinRegistry
↥Association
Association between endpoint E4_SPHIGLOLIPNAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_SPHIGLOLIPNAS | 5.459 [3.63, 8.21] | < 0.001 |
| Birth year | 1.0 [0.99, 1.01] | 0.986 |
During the follow-up period (1.1.1998 — 31.12.2019), 71 out of 223 females with E4_SPHIGLOLIPNAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_SPHIGLOLIPNAS | 4.047 [1.83, 8.95] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 52 out of 131 males with E4_SPHIGLOLIPNAS died.
Mortality risk
Mortality risk for people of age
years, who have E4_SPHIGLOLIPNAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.438% | 0.962% |
| 5 | 3.329% | 5.057% |
| 10 | 8.296% | 11.363% |
| 15 | 14.825% | 20.407% |
| 20 | 27.15% | 32.458% |
Relationships between endpoints
↥Index endpoint: E4_SPHIGLOLIPNAS – Sphingolipidosis, other/unspecified
GWS hits: -
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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