cleft lip: ['Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditions
|
472983 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
576 |
4. Check minimum number of eventsNone |
576 |
5. Include endpointsNone |
576 |
6. Filter based on genotype QC (FinnGen only) |
555 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
First used in FinnGen datafreeze
DF7
Similar endpoints
↥List of similar endpoints to
Cleft lip, lip and palate or palate
based on the number of shared cases.
Similar with more cases:
- Congenital malformations, deformations and chromosomal abnormalities
- 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 | 8348 | 4172 | 4162 |
| Only index persons | 6932 | 3502 | 3430 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.12 | 0.12 | 0.12 |
| Only index persons | 0.13 | 0.13 | 0.13 |
| Median age at first event (years) | |||
| Whole population | 1.21 | 1.31 | 1.00 |
| Only index persons | 1.51 | 1.76 | 1.27 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 555 | 346 | 209 |
| Unadjusted period prevalence (%) | 0.12 | 0.14 | 0.10 |
| Median age at first event (years) | 3.29 | 2.94 | 3.89 |
-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 Q17_CLEFT_LIP_CLEFT_PALATE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CLEFT_LIP_CLEFT_PALATE | 1.527 [1.11, 2.1] | 0.009 |
| Birth year | 0.998 [0.99, 1.01] | 0.627 |
During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 1650 females with Q17_CLEFT_LIP_CLEFT_PALATE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CLEFT_LIP_CLEFT_PALATE | 1.453 [1.11, 1.9] | 0.007 |
| Birth year | 0.99 [0.98, 1.0] | 0.028 |
During the follow-up period (1.1.1998 — 31.12.2019), 61 out of 1668 males with Q17_CLEFT_LIP_CLEFT_PALATE died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CLEFT_LIP_CLEFT_PALATE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.107% | 0.288% |
| 5 | 0.868% | 1.897% |
| 10 | 2.146% | 4.739% |
| 15 | 4.504% | 8.678% |
| 20 | 8.001% | 14.407% |
Relationships between endpoints
↥Index endpoint: Q17_CLEFT_LIP_CLEFT_PALATE – Cleft lip, lip and palate or palate
GWS hits: 4
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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