This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Progressive external ophthalmoplegia
H7_PROGEXTOPHTHALMOPLEGIA
progressive external ophthalmoplegia: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
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. |
24 |
4. Check minimum number of eventsNone |
24 |
5. Include endpointsNone |
24 |
6. Filter based on genotype QC (FinnGen only) |
22 |
Control definitions (FinnGen only)
Control exclude
H7_OCUMUSCLE
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
H49
Name in latin
Ophthalmoplegia externa progressiva
Similar endpoints
↥List of similar endpoints to
Progressive external ophthalmoplegia
based on the number of shared cases.
Similar with more cases:
- Paralytic strabismus
- Strabismus
- Disorders of ocular muscles, binocular movement, accommodation and refraction
- Diseases of the eye and adnexa
- Any operation in hilmo
Similar with less cases:
None
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 152 | 85 | 66 |
| Only index persons | 139 | 78 | 61 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.00 | 0.00 | 0.00 |
| Only index persons | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 56.29 | 58.00 | 54.61 |
| Only index persons | 53.45 | 52.71 | 54.39 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 22 | 13 | 9 |
| Unadjusted period prevalence (%) | 0.00 | 0.01 | 0.00 |
| Median age at first event (years) | 46.89 | 48.17 | 45.04 |
-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
Not a core endpoint, no data to show.
Mortality – FinRegistry
↥Association
Association between endpoint H7_PROGEXTOPHTHALMOPLEGIA and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have H7_PROGEXTOPHTHALMOPLEGIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: H7_PROGEXTOPHTHALMOPLEGIA – Progressive external ophthalmoplegia
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
Loading data