Systemic atrophies primarily affecting the central nervous system

G6_NEUATR

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 G10-G13
  • Cause of death: ICD-10 G10-G13

2 out of 7 registries used, show all original rules.

1173

4. Check minimum number of events

None

1173

5. Include endpoints

1346

6. Filter based on genotype QC (FinnGen only)

1305

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
DF2

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 16815 7755 8724
Only index persons 10265 4914 5351
Unadjusted period prevalence (%)
Whole population 0.24 0.22 0.24
Only index persons 0.19 0.18 0.20
Median age at first event (years)
Whole population 61.80 62.97 60.68
Only index persons 60.13 60.86 59.47

-FinnGen-

Key figures

All Female Male
Number of individuals 1305 555 750
Unadjusted period prevalence (%) 0.31 0.22 0.38
Median age at first event (years) 61.81 59.57 63.48

-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

CodeWAS (R11)

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
1346
Matched controls
13461
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G12.2
ICD-10 Finland
Motor neuron disease
9642.9
323.0
580
*
G11.9
ICD-10 Finland
Hereditary ataxia, unspecified
+∞
216.6
202
*
N07XX02
ATC
riluzole; oral
+∞
166.1
156
*
N99
ICPC
Neurological disease other
56.2
159.5
189
39
G12.9
ICD-10 Finland
Spinal muscular atrophy, unspecified
+∞
133.6
126
*
R47.1
ICD-10 Finland
Dysarthria and anarthria
46.0
117.1
144
35
504
Kela drug reimbursment
Conditions requiring daily forced enteral nutrition
24.4
111.0
160
74
G11.2
ICD-10 Finland
Late-onset cerebellar ataxia
+∞
104.5
99
*
J96.1
ICD-10 Finland
Chronic respiratory failure
13.8
94.7
169
139
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.1
93.4
283
565
JDB10
NOMESCO Finland
Percutaneous gastrostomy
21.3
93.2
140
73
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
+∞
90.6
86
*
N28
ICPC
Limited function/disability (N)
19.4
82.0
127
72
R27.0
ICD-10 Finland
Ataxia, unspecified
70.5
75.4
86
13
1380A
ICD-9 Finland
Late effects of acute poliomyelitis[SEQUELAE POLIOMYELITIDIS]
+∞
70.4
67
*
R13
ICD-10 Finland
Dysphagia
5.6
67.1
211
429
TAB00
NOMESCO Finland
Lumbar puncture
7.9
66.7
160
225
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
6.5
61.4
169
289
G11.8
ICD-10 Finland
Other hereditary ataxias
+∞
60.9
58
*
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
60.9
58
*
M03BX01
ATC
baclofen; systemic
20.2
58.7
89
47
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
7.4
57.8
145
217
Z51.5
ICD-10 Finland
Palliative care
5.0
57.0
197
442
N03AE01
ATC
clonazepam; systemic
5.5
56.8
179
362
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.6
54.9
209
519
Z31.5
ICD-10 Finland
Genetic counselling
7.2
53.3
135
204
L28
ICPC
Limited function/disability (L)
3.1
52.8
342
1320
R4130
NOMESCO Finland
Speech therapy
10.0
52.5
108
116
SPAT1229
SPAT
Assessment of need for aid
4.1
48.7
209
578
N29
ICPC
Neurological sympt/complt other
10.8
45.7
90
89
R1250
NOMESCO Finland
Evaluation of functional capability
10.6
43.9
87
87
G11.4
ICD-10 Finland
Hereditary spastic paraplegia
+∞
41.9
40
*
B91
ICD-10 Finland
Sequelae of poliomyelitis
62.1
41.5
48
8
A28
ICPC
Limited function/disability NOS
2.8
40.8
310
1301
WX725
NOMESCO Finland
Noninvasive ventilation
5.3
38.2
123
252
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
8.0
37.9
88
116
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
4.2
37.3
150
387
G72.9
ICD-10 Finland
Myopathy, unspecified
16.6
36.7
59
37
G10
ICD-10 Finland
Huntington disease
+∞
36.6
35
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.6
36.6
309
1372
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.8
36.3
165
475
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
3.8
35.7
163
471
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.9
34.7
237
921
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
6.7
31.9
83
130
R1260
NOMESCO Finland
Evaluation of communicative skills
8.4
30.8
69
86
TJD20
NOMESCO Finland
Change of gastrostomy tube
21.1
30.6
45
22
XG466
NOMESCO Finland
Sleep oxymetry
5.0
29.9
99
209
G31.9
ICD-10 Finland
Degenerative disease of nervous system, unspecified
56.3
28.2
33
6
34899
ICD-8 Finland
Motor neurone disease, Other and unspecified manifestations
+∞
26.1
25
*
N19
ICPC
Speech disorder
8.7
25.7
56
67
N18
ICPC
Paralysis/weakness
6.6
25.6
67
106
NXL00
NOMESCO Finland
Biopsy of muscle
32.7
24.7
32
10
SPAT1215
SPAT
Assessment of need for medical rehabilitation
4.1
24.6
101
264
D21
ICPC
Swallowing problem
9.4
24.1
50
55
N03AX12
ATC
gabapentin; oral
2.3
22.7
234
1123
JC2KB
NOMESCO Finland
Functional X-ray examination of swallowing
8.3
22.0
49
61
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
4.2
21.8
86
217
R4190
NOMESCO Finland
Nutritional therapy
4.8
21.6
73
158
SPAT1231
SPAT
Assessment of adjustments needed in living environment
5.3
21.3
66
130
3342A
ICD-9 Finland
Spinocerebellar disease, Primary cerebellar degeneration
+∞
20.9
20
*
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
6.3
20.4
55
91
R5599
NOMESCO Finland
Other rehabilitation service
4.7
20.3
70
155
SPAT1226
SPAT
Implementation of occupational therapy rehabilitation plan
4.7
20.3
70
155
XG467
NOMESCO Finland
Nocturnal CO2 monitoring
106.6
19.6
21
*
R26.0
ICD-10 Finland
Ataxic gait
31.8
19.3
25
8
R47.8
ICD-10 Finland
Other and unspecified speech disturbances
10.0
19.2
38
39
04499
ICD-8 Finland
Late effects of actue poliomyelitis
70.9
18.7
21
*
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
10.0
18.7
37
38
R4120
NOMESCO Finland
Occupational therapy
2.9
18.6
116
418
R25.3
ICD-10 Finland
Fasciculation
16.4
18.4
29
18
G31.0
ICD-10 Finland
Circumscribed brain atrophy
19.6
18.2
27
14
SPAT1216
SPAT
Assessment of functional ability
2.0
18.2
246
1324
G12.0
ICD-10 Finland
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
+∞
17.7
17
*
XG416
NOMESCO Finland
Measurement of maximal airway pressure
+∞
17.7
17
*
SPAT1217
SPAT
Assessment of need for services (elderly/care support)
2.6
17.4
135
556
XA402
NOMESCO Finland
ENMG
4.6
16.5
57
127
SPAT1297
SPAT
Other function in accordance with speech therapy nomenclature
13.7
16.0
27
20
Z50.1
ICD-10 Finland
Other physical therapy
2.9
15.9
97
346
3352A
ICD-9 Finland
Anterior horn cell disease, Motor neuron disease[SCLEROSIS LATERALIS AMYOTROPHICA]
+∞
15.7
15
*
SPAT1137
SPAT
Taking care of patient’s/customer’s hygiene
2.6
15.5
115
463
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
1.9
15.5
246
1399
M62.5
ICD-10 Finland
Muscle wasting and atrophy, not elsewhere classified
25.3
14.7
20
8
G11.00
ICD-10 Finland
Cerebellar dysplasia and aplasia
+∞
14.6
14
*
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
1.7
14.6
402
2729
XA800
NOMESCO Finland
Neuropsychological investigation
3.3
14.1
70
217
A98
ICPC
Health maint/preventive medicine
0.6
13.9
998
11165
SPAT1224
SPAT
Implementation of speech therapy rehabilitation plan
5.4
13.8
41
78
Z50.5
ICD-10 Finland
Speech therapy
5.9
13.8
38
66
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
24.1
13.8
19
8
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
1.7
13.7
387
2631
SPAT1223
SPAT
Implementation of physical therapy rehabilitation plan
1.7
13.6
375
2535
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
26.0
13.4
18
7
N02AA01
ATC
morphine; systemic, rectal
5.4
13.2
39
74
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
15.2
13.1
21
14
J69.0
ICD-10 Finland
Pneumonitis due to food and vomit
4.3
13.0
48
116
G71.08
ICD-10 Finland
Other muscular dystrophy
28.7
13.0
17
6
SPAT1222
SPAT
Counselling/guidance promoting independent living
1.8
13.0
226
1326
F80.1
ICD-10 Finland
Expressive language disorder
7.9
12.6
28
36
G11.18
ICD-10 Finland
Early-onset cerebellar ataxia
+∞
12.5
12
*
SPAT1220
SPAT
Assessment of need for rehabilitation and/or rehabilitation plan
2.4
12.3
107
471
RS314
NOMESCO Finland
NA
26.9
12.1
16
6
GX2D5
NOMESCO Finland
Sleep oximetry
26.9
12.1
16
6
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
1.9
11.6
182
1023
T05
ICPC
Feeding problem of adult
12.7
11.6
20
16
TNX05
NOMESCO Finland
Simple incision of soft tissue, unspecified region
65.5
11.6
13
*
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
2.3
11.5
112
519
3343A
ICD-9 Finland
Spinocerebellar disease, Other cerebellar ataxia
+∞
11.5
11
*
AA1AD
NOMESCO Finland
CT of head and brain
1.6
11.5
320
2158
G82.1
ICD-10 Finland
Spastic paraplegia
121.0
11.4
12
*
G35
ICD-10 Finland
Multiple sclerosis
6.4
11.4
29
46
J18.9
ICD-10 Finland
Pneumonia, unspecified
1.6
11.4
345
2374
G62.8
ICD-10 Finland
Other specified polyneuropathies
8.4
11.3
24
29
JDB01
NOMESCO Finland
Laparoscopic gastrostomy
35.3
11.3
14
*
N81
ICPC
Injury nervous system other
25.2
11.1
15
6
SPAT1234
SPAT
Support of social functional capacity
2.5
10.9
84
347
XW5WT
NOMESCO Finland
Other blood specimen with radiologicl guidance
18.0
10.7
16
9
N06AA09
ATC
amitriptyline; systemic
2.0
10.6
134
696
NA7DG
NOMESCO Finland
Spine and spinal cord very extensive MRI examination with high intensity magnet
5.9
10.4
28
48
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
2.3
10.3
99
456
N70
ICPC
Poliomyelitis
23.5
10.2
14
6
A06AD11
ATC
lactulose; oral
1.7
10.2
212
1310
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
2.6
10.1
72
286
XX9TE
NOMESCO Finland
Compementary ultrasound examination
9.2
10.0
20
22
G60.0
ICD-10 Finland
Hereditary motor and sensory neuropathy
14.7
10.0
16
11
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
12.3
9.9
17
14
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
2.1
9.8
118
599
ZXE17
NOMESCO Finland
Procedure duration 150 to 179 minutes
5.7
9.8
27
48
N05BA01
ATC
diazepam; systemic, rectal
1.8
9.8
174
1024
ABD40
NOMESCO Finland
Implantation of spinal injection device
55.4
9.7
11
*
SPAT1295
SPAT
Other function in accordance with physical therapy nomenclature
2.4
9.6
78
332
L19
ICPC
Muscle symptom/complaint NOS
3.6
9.6
42
120
M41.4
ICD-10 Finland
Neuromuscular scoliosis
100.7
9.4
10
*
3349X
ICD-9 Finland
Spinocerebellar disease, unspecified
+∞
9.4
9
*
F02.29*G10
ICD-10 Finland
Dementia in Huntington's disease without information on additional symptoms
+∞
9.4
9
*
3351X
ICD-9 Finland
Anterior horn cell disease, Spinal muscular atrophy[ATROPHIA MUSCULORUM SPINALIS NUD]
+∞
9.4
9
*
34898
ICD-8 Finland
Motor neurone disease, Alii definiti
+∞
9.4
9
*
A120_
NOMESCO Finland
NA
+∞
9.4
9
*
A210_
NOMESCO Finland
NA
+∞
9.4
9
*
G13.0
ICD-10 Finland
Paraneoplastic neuromyopathy and neuropathy
+∞
9.4
9
*
R5140
NOMESCO Finland
Monitoring the use of the aid
1.9
9.3
140
779
RS340
NOMESCO Finland
NA
13.8
9.2
15
11
L99
ICPC
Musculoskeletal disease other
3.8
9.1
37
99
ABC60
NOMESCO Finland
Decompression of cervical spinal cord
7.5
8.9
20
27
Z3226
NOMESCO Finland
Physiotherapist
1.6
8.9
235
1549
OAB74
NOMESCO Finland
Nutritional guidance related to treatment and rehabilitation for medical condition
7.2
8.7
20
28
N05BA06
ATC
lorazepam; systemic, sublingual
2.4
8.7
75
328
TAW99
NOMESCO Finland
Other minor neurosurgical procedure
8.3
8.6
18
22
UDQ42
NOMESCO Finland
Endoscopic assessment of swallowing function
16.4
8.6
13
8
Z2446
NOMESCO Finland
Social worker
2.1
8.5
89
429
G31.2
ICD-10 Finland
Degeneration of nervous system due to alcohol
6.4
8.5
21
33
WX781
NOMESCO Finland
Remote monitoring, noninvasive ventilation
+∞
8.3
8
*
G11
ICD-10 Finland
Hereditary ataxia
+∞
8.3
8
*
G11.02
ICD-10 Finland
Dysequilibrium syndrome
+∞
8.3
8
*
G82.2
ICD-10 Finland
Paraplegia, unspecified
10.8
8.3
15
14
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
14.6
8.2
13
9
N06AX21
ATC
duloxetine; oral
1.9
8.1
113
609
NA7BG
NOMESCO Finland
Spine and spinal cord MRI examination with high intensity magnet
11.8
8.1
14
12
RS230
NOMESCO Finland
NA
9.0
8.0
16
18
Z73.6
ICD-10 Finland
Limitation of activities due to disability
6.6
7.9
19
29
RS221
NOMESCO Finland
NA
4.1
7.9
29
72
M54.1
ICD-10 Finland
Radiculopathy
2.6
7.8
54
211
N03AF01
ATC
carbamazepine; oral, rectal
2.2
7.8
74
340
N02AA05
ATC
oxycodone; systemic
1.6
7.8
194
1258
SPAT1167
SPAT
Insertion of urinary catheter
2.5
7.8
58
238
ZXE15
NOMESCO Finland
Procedure duration 120 to 149 minutes
3.8
7.8
31
83
7812A
ICD-9 Finland
Symptoms involving nervous and musculoskeletal systems, Abnormality of gait
45.2
7.7
9
*
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
45.2
7.7
9
*
G40.9
ICD-10 Finland
Epilepsy, unspecified
2.7
7.7
50
190
XKC03
NOMESCO Finland
Water cystometry
2.9
7.6
45
161
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
18.5
7.6
11
6
Z99.8
ICD-10 Finland
Dependence on other enabling machines and devices
18.5
7.6
11
6
Z93.1
ICD-10 Finland
Gastrostomy status
25.1
7.6
10
*
SPAT1296
SPAT
Other function in accordance with occupational therapy nomenclature
4.3
7.5
26
61
N05BA04
ATC
oxazepam; oral
1.5
7.5
278
1983
N06AB04
ATC
citalopram; systemic
1.5
7.4
245
1704
W19
ICD-10 Finland
Unspecified fall
1.9
7.4
115
646
R5110
SPAT
NA
3.0
7.3
40
137
XKD06
NOMESCO Finland
Physiologic investigation of micturition
2.7
7.3
47
177
G60.9
ICD-10 Finland
Hereditary and idiopathic neuropathy, unspecified
+∞
7.3
7
*
34800
ICD-8 Finland
Motor neurone disease, Amyotrophic lateral sclerosis
+∞
7.3
7
*
A220_
NOMESCO Finland
NA
+∞
7.3
7
*
R99
ICD-10 Finland
Other ill-defined and unspecified causes of mortality
3.6
7.3
31
88
NA1CG
NOMESCO Finland
Cervical spine extensive MRI examination with high intensity magnet
4.0
7.3
27
68
Z3229
NOMESCO Finland
Other healthcare associate professional
1.8
7.3
120
690
R26.2
ICD-10 Finland
Difficulty in walking, not elsewhere classified
4.5
7.3
24
54
RS142
NOMESCO Finland
NA
15.8
7.2
11
7
R1100
NOMESCO Finland
General evaluation of the need for rehabilitation
5.5
7.2
20
37
G61.8
ICD-10 Finland
Other inflammatory polyneuropathies
20.1
7.1
10
5
RS310
NOMESCO Finland
NA
20.1
7.1
10
5
SPAT1262
SPAT
Handing over of treatment supplies
1.5
7.1
231
1602
R42
ICD-10 Finland
Dizziness and giddiness
1.5
7.1
262
1868
G57.3
ICD-10 Finland
Lesion of lateral popliteal nerve
4.0
7.0
26
66
U04
ICPC
Incontinence urine
2.2
6.9
64
294
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
2.1
6.9
71
342
G64
ICD-10 Finland
Other disorders of peripheral nervous system
13.8
6.9
11
8
XG410
NOMESCO Finland
Flow-volume spirometry
2.3
6.9
60
265
R2120
NOMESCO Finland
Counselling and guidance concerning rehabilitation services and social security
4.8
6.8
21
44
UDQ12
NOMESCO Finland
Flexible laryngoscopy
2.1
6.8
79
397
R49.08
ICD-10 Finland
Other specified dysphonia
3.2
6.6
32
101
R33
ICD-10 Finland
Retention of urine
1.8
6.6
114
663
N86
ICPC
Multiple sclerosis
7.8
6.6
14
18
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
2.0
6.6
75
377
N03AX16
ATC
pregabalin; oral
1.5
6.4
269
1965
N04BB01
ATC
amantadine; oral
3.7
6.4
26
72
RK110
NOMESCO Finland
NA
4.9
6.4
19
39
N31.2
ICD-10 Finland
Flaccid neuropathic bladder, not elsewhere classified
5.2
6.3
18
35
SPAT1148
SPAT
Treatment of chronic ulcer or burn
1.6
6.3
173
1148
Z02.4
ICD-10 Finland
Examination for driving licence
0.7
6.3
161
2308
G13.2*E03.9
ICD-10 Finland
Systemic atrophy primarily affecting central nervous system in myxoedema
+∞
6.3
6
*
3350A
ICD-9 Finland
Anterior horn cell disease, Werdnig-Hoffmann disease[MORBUS WERDNIG-HOFFMANN]
+∞
6.3
6
*
UJC01
NOMESCO Finland
Scopy of lower throat
4.3
6.2
21
49
RS222
NOMESCO Finland
NA
3.6
6.2
26
74
A04
ICPC
Weakness/tiredness general
1.6
6.1
141
894
Z01.8
ICD-10 Finland
Other specified special examinations
1.5
6.1
248
1797
N05BA09
ATC
clobazam; oral
8.6
6.1
12
14
RS122
NOMESCO Finland
NA
8.6
6.1
12
14
N39.4
ICD-10 Finland
Other specified urinary incontinence
1.9
6.0
91
506

Mortality – FinRegistry

Association

Association between endpoint G6_NEUATR and mortality.

Females

Parameter HR [95% CI] p-value
G6_NEUATR 7.442 [6.44, 8.6] < 0.001
Birth year 0.994 [0.99, 1.0] 0.176

During the follow-up period (1.1.1998 — 31.12.2019), 2750 out of 4587 females with G6_NEUATR died.

Males

Parameter HR [95% CI] p-value
G6_NEUATR 5.431 [4.76, 6.19] < 0.001
Birth year 0.986 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 3012 out of 5076 males with G6_NEUATR died.

Mortality risk

Mortality risk for people of age

years, who have G6_NEUATR.

N-year risk Females Males
1 0.823% 0.863%
5 3.911% 5.649%
10 10.404% 14.121%
15 19.039% 26.114%
20 31.816% 40.692%

Relationships between endpoints

Index endpoint: G6_NEUATR – Systemic atrophies primarily affecting the central nervous system

GWS hits: 7

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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