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Phantom limb syndrome

DOID EFO Endpoint Browser PheWeb

G6_PHANTOM

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 — G54.6, G54.7
  • Hospital discharge: ICD-9 — 3536
  • Cause of death: ICD-10 — G54.6, G54.7
  • Cause of death: ICD-9 — 3536

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

94

4. Check minimum number of events

None

94

5. Include endpoints

None

94

6. Filter based on genotype QC (FinnGen only)

94

Control definitions (FinnGen only)

Control exclude
G6_NERPLEX

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 726 302 414
Only index persons 586 241 345
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 56.02 56.33 55.54
Only index persons 53.45 53.67 53.29

-FinnGen-

Key figures

All Female Male
Number of individuals 94 41 53
Unadjusted period prevalence (%) 0.02 0.01 0.02
Median age at first event (years) 55.40 50.35 59.31

-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 (R11)

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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
83
Matched controls
831
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G54.6
ICD-10 Finland
Phantom limb syndrome with pain
+∞
109.2
79
*
N03AX16
ATC
pregabalin; oral
16.7
28.6
57
96
NGQ20
NOMESCO Finland
Amputation of lower leg
294.5
22.8
22
*
N03AX12
ATC
gabapentin; oral
14.7
21.8
40
49
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
13.5
15.6
28
30
N02AA05
ATC
oxycodone; systemic
8.6
15.0
37
71
N02AX02
ATC
tramadol; systemic, rectal
6.5
14.3
57
209
QDB05
NOMESCO Finland
Revision of wound of skin of lower limb
18.5
12.5
19
13
N06AX21
ATC
duloxetine; oral
10.4
12.3
25
33
NHQ30
NOMESCO Finland
Amputation of foot, transmetatarsal
69.2
10.9
12
*
NHQ40
NOMESCO Finland
Amputation of toe
22.5
10.7
15
8
G54.0
ICD-10 Finland
Brachial plexus disorders
+∞
10.6
10
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
8.2
10.4
24
39
L28
ICPC
Limited function/disability (L)
6.6
10.2
28
59
J01FF01
ATC
clindamycin; systemic
4.8
9.9
41
139
Z89.5
ICD-10 Finland
Acquired absence of leg at or below knee
+∞
9.6
9
*
N06AA09
ATC
amitriptyline; systemic
7.5
9.5
23
40
NFQ20
NOMESCO Finland
Amputation of femur
56.1
8.9
10
*
G56.0
ICD-10 Finland
Carpal tunnel syndrome
18.9
8.9
13
8
M79.6
ICD-10 Finland
Pain in limb
4.3
8.8
45
180
A46
ICD-10 Finland
Erysipelas
5.3
8.7
29
76
L17
ICPC
Foot/toe symptom/complaint
4.5
8.3
34
110
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
8.6
8.0
17
24
C03CA01
ATC
furosemide; systemic
4.0
7.9
40
156
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
11.0
7.6
14
15
J01MA02
ATC
ciprofloxacin; systemic
3.7
7.5
49
231
T81.4
ICD-10 Finland
Infection following a procedure, not elsewhere classified
5.6
7.4
22
50
S97
ICPC
Chronic ulcer skin
9.7
7.2
14
17
SPAT1229
SPAT
Assessment of need for aid
5.9
7.1
20
42
R52.2
ICD-10 Finland
Other chronic pain
12.5
7.1
12
11
PF1AT
NOMESCO Finland
Intravascular dilatation of arteries of knee, lower leg and ankle (PTA)
43.8
6.9
8
*
N06AX16
ATC
venlafaxine; oral
5.1
6.8
22
55
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.4
6.7
26
78
M51.1
ICD-10 Finland
Lumbar and other intervertebral disc disorders with radiculopathy
5.2
6.6
21
51
Z73.3
ICD-10 Finland
Stress, not elsewhere classified
75.4
6.5
7
*
PD4AC
NOMESCO Finland
Arterigography of lower extremity with X-ray
19.9
6.4
9
5
E10.7
ICD-10 Finland
Type 1 diabetes mellitus, With multiple complications
29.1
6.4
8
*
F45.4
ICD-10 Finland
Persistent somatoform pain disorder
+∞
6.3
6
*
N06AX11
ATC
mirtazapine; oral
3.4
6.3
38
165

Mortality – FinRegistry

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Association

Association between endpoint G6_PHANTOM and mortality.

Females

Parameter HR [95% CI] p-value
G6_PHANTOM 2.961 [1.92, 4.57] < 0.001
Birth year 0.991 [0.98, 1.0] 0.056

During the follow-up period (1.1.1998 — 31.12.2019), 90 out of 261 females with G6_PHANTOM died.

Males

Parameter HR [95% CI] p-value
G6_PHANTOM 2.061 [1.55, 2.74] < 0.001
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 119 out of 361 males with G6_PHANTOM died.

Mortality risk

Mortality risk for people of age

years, who have G6_PHANTOM.

N-year risk Females Males
1 0.282% 0.327%
5 1.348% 2.281%
10 3.262% 5.933%
15 6.514% 10.869%
20 12.15% 17.885%

Relationships between endpoints

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Index endpoint: G6_PHANTOM – Phantom limb syndrome

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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