central core myopathy: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
68 |
4. Check minimum number of eventsNone |
68 |
5. Include endpointsNone |
68 |
6. Filter based on genotype QC (FinnGen only) |
62 |
Control definitions (FinnGen only)
- Control exclude
- G6_MYONEU
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- G71
- Name in latin
- Myopathiae congenitae
Similar endpoints
↥List of similar endpoints to
Congenital myopathies
based on the number of shared cases.
Similar with more cases:
- Diseases of the myoneural junction and muscle
- Neurological diseases
- Neurological diseases, wide definition
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 713 | 322 | 384 |
| Only index persons | 528 | 245 | 283 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 40.42 | 42.53 | 38.30 |
| Only index persons | 39.02 | 40.01 | 38.17 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 62 | 32 | 30 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 45.51 | 39.49 | 51.93 |
-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
CodeWAS
↥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
- 68
- Matched controls
- 680
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
38.1
33
*
G71.25
ICD-10 Finland
Congenital muscular dystrophy NOS
+∞
25.6
23
*
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
24.4
22
*
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
16.3
15
*
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
14.0
13
*
Z31.5
ICD-10 Finland
Genetic counselling
15.4
12.7
21
19
L28
ICPC
Limited function/disability (L)
7.2
12.3
23
45
3590A
ICD-9 Finland
Muscular dystrophies and other myopathies, Congenital hereditary muscular dystrophy
+∞
10.7
10
*
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
9.6
9
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
11.2
9.6
18
21
J96.1
ICD-10 Finland
Chronic respiratory failure
32.2
8.8
11
*
N99
ICPC
Neurological disease other
102.2
8.6
9
*
G71.21
ICD-10 Finland
Fibre type disproportion
+∞
8.5
8
*
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
8.5
8
*
SPAT1229
SPAT
Assessment of need for aid
13.1
7.7
13
12
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
5.2
7.7
19
47
G71.12
ICD-10 Finland
Myotonia congenita
+∞
7.4
7
*
G71.18
ICD-10 Finland
Other myotonic disease
+∞
7.4
7
*
Z3226
NOMESCO Finland
Physiotherapist
4.2
6.7
23
74
N03AE01
ATC
clonazepam; systemic
12.8
6.6
11
10
N28
ICPC
Limited function/disability (N)
29.7
6.4
8
*
L99
ICPC
Musculoskeletal disease other
29.7
6.4
8
*
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
6.3
6
*
G71.02
ICD-10 Finland
Muscular dystrophy facioscapulohumeral
+∞
6.3
6
*
3599X
ICD-9 Finland
Muscular dystrophies and other myopathies, Myopathy, unspecified
+∞
6.3
6
*
Z3229
NOMESCO Finland
Other healthcare associate professional
7.4
6.1
14
23
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
31
186
2.23
2.60
2.4
5.2
36.75
36.49
g/l
0.08
31
181
21
112
2.27
2.29
2.8
3.4
884.24
921.50
ng/l
0.02
21
90
5
9
5.89
2.25
1.4
2.9
27.90
24.84
mmol/l
—
5
9
5
10
5.30
2.11
1.6
1.6
—
—
—
0
0
5
13
4.06
1.74
1.0
2.1
—
—
—
0
0
9
37
2.65
1.55
3.3
7.2
25.31
25.70
mmol/l
—
9
37
33
423
0.57
1.42
2.6
3.4
—
—
—
0
0
25
169
1.76
1.33
2.9
4.0
33.90
22.44
ng/l
0.48
20
114
13
71
2.03
1.30
1.9
1.8
—
—
—
0
0
19
122
1.77
1.19
1.6
1.6
—
—
—
0
0
30
224
1.61
1.07
4.4
9.2
1.23
1.21
mmol/l
1.32
30
209
9
51
1.88
0.99
1.6
1.6
—
—
—
0
0
37
295
1.56
0.98
3.1
6.7
6.11
6.57
mmol/l
1.06
37
271
6
27
2.34
0.96
2.3
3.7
4.75
4.16
pmol/l
—
6
22
12
72
1.81
0.92
3.2
8.1
1.13
1.11
mmol/l
0.10
12
66
8
45
1.88
0.88
2.0
4.1
1.16
1.22
mmol/l
—
8
40
6
33
1.90
0.81
1.8
1.3
—
—
—
0
0
32
259
1.44
0.73
3.5
3.5
0.00
0.00
estimate
—
9
57
25
194
1.46
0.70
3.8
3.0
—
—
—
0
0
32
262
1.42
0.67
5.1
4.6
0.00
0.00
estimate
—
9
55
8
51
1.64
0.63
1.6
1.5
—
—
—
0
0
0
21
0.00
0.61
0.0
1.6
—
—
—
0
0
59
548
1.58
0.59
14.9
14.6
139.86
139.62
mmol/l
0.33
59
537
12
82
1.56
0.59
1.5
1.4
—
—
—
0
0
6
97
0.58
0.57
1.3
2.3
—
—
—
0
0
26
212
1.37
0.54
4.1
3.5
—
—
—
0
0
46
504
0.73
0.50
3.8
3.7
1.20
1.26
mmol/l
0.26
41
462
19
149
1.38
0.49
3.1
3.9
0.00
0.00
estimate
—
9
51
59
550
1.55
0.49
15.0
14.5
3.87
3.95
mmol/l
1.45
59
539
31
264
1.32
0.47
3.7
3.5
0.00
0.00
estimate
—
9
51
0
15
0.00
0.42
0.0
1.7
—
—
—
0
0
0
15
0.00
0.42
0.0
1.1
—
6.60
—
0
5
0
16
0.00
0.41
0.0
1.7
—
48.54
—
0
16
53
493
1.34
0.39
11.2
11.6
111.55
87.41
ml/min/173m2
3.65
46
393
21
177
1.27
0.33
1.6
1.8
84.11
99.04
pmol/l
0.83
14
90
7
56
1.28
0.30
2.1
8.8
106.14
103.95
mmol/l
—
7
56
12
97
1.29
0.25
1.6
1.3
9.98
27.24
iu/ml
—
6
33
44
411
1.20
0.24
4.4
3.8
15.23
14.69
pmol/l
0.66
44
390
5
41
1.24
0.22
3.2
3.1
36.00
25.64
u/l
—
5
33
0
10
0.00
0.21
0.0
4.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
1.00
—
0
6
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
0
14
0.00
0.20
0.0
1.5
—
—
—
0
0
0
14
0.00
0.20
0.0
1.5
—
—
—
0
0
0
14
0.00
0.20
0.0
1.5
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
6
50
1.22
0.20
1.2
1.7
—
—
—
0
0
61
622
0.81
0.19
21.1
19.0
136.82
135.95
g/l
0.17
61
614
7
61
1.16
0.18
9.4
6.6
—
—
—
0
0
7
87
0.78
0.15
1.3
2.2
—
—
—
0
0
7
87
0.78
0.15
1.3
5.2
0.81
0.81
mmol/l
—
7
82
13
114
1.17
0.13
1.2
1.5
29.68
21.05
nmol/l
0.86
13
96
25
233
1.12
0.11
2.2
2.9
—
—
—
0
0
5
44
1.15
0.10
3.4
21.0
2.62
1.59
mmol/l
—
5
36
11
99
1.13
0.07
1.7
1.7
422.73
542.07
pmol/l
0.82
11
83
55
540
1.10
0.05
15.6
12.9
26.32
20.63
mg/l
0.50
48
410
11
117
0.93
0.02
2.2
2.6
—
—
—
0
0
17
171
0.99
0.00
2.2
3.6
32.94
29.80
u/l
0.40
17
164
22
218
1.01
0.00
15.6
11.1
1.11
1.17
inr
—
7
63
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
6.8
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
4.5
—
45.20
—
0
8
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
15.54
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint G6_CONMYOP and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_CONMYOP | 5.957 [3.77, 9.41] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.315 |
During the follow-up period (1.1.1998 — 31.12.2019), 76 out of 239 females with G6_CONMYOP died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_CONMYOP | 4.163 [2.81, 6.18] | < 0.001 |
| Birth year | 0.984 [0.97, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 92 out of 270 males with G6_CONMYOP died.
Mortality risk
Mortality risk for people of age
years, who have G6_CONMYOP.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.533% | 0.783% |
| 5 | 3.124% | 4.309% |
| 10 | 8.428% | 10.688% |
| 15 | 15.743% | 19.355% |
| 20 | 26.652% | 31.473% |
Relationships between endpoints
↥Index endpoint: G6_CONMYOP – Congenital myopathies
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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