Klinefelter's syndrome: A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.
Chromosomal abnormalities, not elsewhere classified
DOID EFO Endpoint Browser PheWeb
Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
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. |
673 |
4. Check minimum number of eventsNone |
673 |
5. Include endpoints
|
673 |
6. Filter based on genotype QC (FinnGen only) |
586 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
2
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q
Name in latin
Abnormitates chromosomales non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Chromosomal abnormalities, not elsewhere classified
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 | 13440 | 6586 | 6820 |
| Only index persons | 10255 | 5150 | 5105 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.19 | 0.19 | 0.19 |
| Only index persons | 0.19 | 0.19 | 0.19 |
| Median age at first event (years) | |||
| Whole population | 14.45 | 17.08 | 11.80 |
| Only index persons | 21.34 | 25.41 | 17.24 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 586 | 346 | 240 |
| Unadjusted period prevalence (%) | 0.13 | 0.14 | 0.12 |
| Median age at first event (years) | 26.18 | 30.80 | 19.52 |
-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_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED | 10.524 [8.83, 12.54] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.401 |
During the follow-up period (1.1.1998 — 31.12.2019), 616 out of 5421 females with Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED | 6.559 [5.59, 7.69] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.021 |
During the follow-up period (1.1.1998 — 31.12.2019), 646 out of 5593 males with Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED.| N-year risk | Females | Males |
|---|---|---|
| 1 | 1.035% | 1.606% |
| 5 | 5.803% | 8.453% |
| 10 | 13.94% | 19.183% |
| 15 | 25.726% | 33.124% |
| 20 | 42.036% | 51.436% |
Relationships between endpoints
↥Index endpoint: Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED – Chromosomal abnormalities, not elsewhere classified
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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