hypospadias: Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.
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. |
135 |
4. Check minimum number of eventsNone |
135 |
5. Include endpointsNone |
135 |
6. Filter based on genotype QC (FinnGen only) |
123 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_GENITAL_ORGANS
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q5
Name in latin
Hypospadia
Similar endpoints
↥List of similar endpoints to
Hypospadias
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of genital organs
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 4245 | 28 | 4216 |
| Only index persons | 2876 | 24 | 2852 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.12 | 0.00 | 0.12 |
| Only index persons | 0.11 | 0.00 | 0.11 |
| Median age at first event (years) | |||
| Whole population | 1.17 | 23.37 | 1.01 |
| Only index persons | 2.09 | 26.44 | 1.89 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 123 | - | 119 |
| Unadjusted period prevalence (%) | 0.06 | - | 0.06 |
| Median age at first event (years) | 10.69 | - | 10.12 |
-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_HYPOSPADIAS and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_HYPOSPADIAS | 1.747 [1.26, 2.43] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 90 out of 3629 males with Q17_HYPOSPADIAS died.
Mortality risk
Mortality risk for people of age
years, who have Q17_HYPOSPADIAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 0.39% |
| 5 | No data | 2.149% |
| 10 | No data | 5.438% |
| 15 | No data | 9.547% |
| 20 | No data | 15.652% |
Relationships between endpoints
↥Index endpoint: Q17_HYPOSPADIAS – Hypospadias
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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