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Non-neuropathic heredofamilial amyloidosis

E4_AMYL_NONNEURO

Endpoint definition

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 E85.0
  • Cause of death: ICD-10 E85.0

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

42

4. Check minimum number of events

None

42

5. Include endpoints

None

42

6. Filter based on genotype QC (FinnGen only)

42

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E85
Name in latin
Amyloidosis (heredo)familialis non neuropathica

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 340 178 158
Only index persons 227 120 107
Unadjusted period prevalence (%)
Whole population 0.00 0.01 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population 63.80 64.07 63.99
Only index persons 62.36 60.71 64.20

-FinnGen-

Key figures

All Female Male
Number of individuals 42 24 18
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 56.82 50.91 64.71

-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.

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.

No data available

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3004588) Protein electrophoresis panel - Serum or Plasma
12
17
9.48
8.48
4.3
1.3
—
—
—
0
0
(3037756) Immunofixation for Serum or Plasma
9
6
18.53
6.22
2.3
1.3
—
—
—
0
0
(40760888) Immunoglobulin light chains.free panel - Serum
8
5
19.22
5.65
9.0
1.2
—
—
—
0
0
(3013005) Retinol [Moles/volume] in Serum or Plasma
5
0
+∞
5.30
2.8
0.0
umol/l
2.3
—
—
5
0
(40763571) Iron/Transferrin [Ratio] in Serum or Plasma
14
44
4.27
4.23
4.3
1.6
%
18.0
20.3
0.35
14
37
(3022948) Iron [Moles/volume] in Serum or Plasma
15
53
3.85
3.84
4.6
1.6
umol/l
10.4
12.6
0.75
15
46
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
25
128
3.35
3.57
4.3
1.8
nmol/l
80.0
75.5
0.35
25
107
(42870588) Differential panel, method unspecified - Blood
22
110
3.10
3.18
10.0
5.0
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
11
36
3.78
3.07
2.4
1.7
—
—
—
0
0
(3000620) Complement C3 [Mass/volume] in Serum or Plasma
5
5
11.09
3.06
1.4
1.6
g/l
1.1
1.0
—
5
5
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
5
5
11.09
3.06
1.4
1.6
g/l
0.2
0.2
—
5
5
(3042936) Bacteria identified in Isolate by Culture
14
57
3.18
2.80
2.6
2.2
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
6
10
6.78
2.80
2.7
1.0
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
17
78
2.98
2.79
7.9
4.8
—
—
—
0
0
(3005719) IgG [Mass/volume] in Serum or Plasma
8
22
4.24
2.51
5.3
1.5
g/l
7.0
10.3
—
8
17
(3012544) pH of Venous blood
9
29
3.66
2.40
4.1
2.2
—
—
—
0
0
(3006504) Eosinophils/100 leukocytes in Blood
25
155
2.51
2.16
13.1
4.8
%
2.5
2.5
0.04
25
146
(3019069) Monocytes/100 leukocytes in Blood
25
156
2.49
2.12
13.2
5.0
%
8.2
8.7
0.37
25
147
(40758558) Short blood count panel - Blood
16
81
2.58
2.10
8.4
7.3
—
—
—
0
0
(3002030) Lymphocytes/100 leukocytes in Blood
25
159
2.41
1.99
13.5
4.9
%
29.0
27.8
0.19
25
150
(3022096) Basophils/100 leukocytes in Blood
24
154
2.30
1.83
13.7
4.6
%
0.6
0.7
0.52
24
143
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
5
13
4.21
1.77
2.0
1.5
—
—
—
0
0
(3018010) Neutrophils/100 leukocytes in Blood
24
157
2.23
1.71
12.2
4.7
%
58.0
56.6
0.21
24
149
(3044640) Blood type and Crossmatch panel - Blood
18
105
2.25
1.68
3.2
2.0
—
—
—
0
0
(3022313) Gas panel - Capillary blood
5
14
3.90
1.66
6.0
2.9
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
5
14
3.90
1.66
1.8
3.9
mmol/l
27.3
24.1
—
5
14
(3007853) Bacteria identified in Skin by Aerobe culture
9
37
2.81
1.60
1.7
1.9
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
20
129
2.05
1.41
6.3
2.9
—
—
—
0
0
(3019060) Gas panel - Arterial blood
5
18
3.01
1.32
3.8
3.3
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
8
37
2.43
1.30
1.3
1.6
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
0
33
0.00
1.22
0.0
2.1
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
31
361
0.46
1.21
40.1
16.0
umol/l
96.3
74.0
1.41
31
361
(3032080) INR in Blood by Coagulation assay
19
128
1.88
1.13
7.5
9.3
inr
1.0
1.2
—
5
41
(3015377) Calcium [Moles/volume] in Serum or Plasma
18
120
1.88
1.10
3.5
3.2
mmol/l
2.3
2.4
1.06
18
100
(3012095) Magnesium [Moles/volume] in Serum or Plasma
10
54
2.12
1.07
7.9
3.9
mmol/l
0.8
0.8
—
10
49
(3003694) ABO and Rh group [Type] in Blood
5
100
0.43
1.07
1.4
1.4
—
—
—
0
0
(3014111) Lactate [Moles/volume] in Serum or Plasma
5
22
2.44
1.06
6.4
3.4
mmol/l
1.0
1.4
—
5
22
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
9
51
1.97
1.03
1.6
2.1
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
0
32
0.00
1.00
0.0
1.9
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
32
364
0.49
0.98
35.2
13.0
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
28
220
1.82
0.97
5.8
4.3
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
12
75
1.84
0.86
5.1
3.3
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
9
137
0.56
0.78
2.2
2.9
—
—
—
0
0
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
9
57
1.73
0.78
7.0
3.0
ng/l
57.4
79.7
—
9
44
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
7
39
1.95
0.77
1.3
1.6
—
—
—
0
0
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
30
342
0.57
0.76
6.3
4.3
mmol/l
4.4
4.6
0.76
30
316
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
5
25
2.13
0.75
2.8
1.6
—
—
—
0
0
(3015736) pH of Urine
9
130
0.61
0.65
6.3
3.2
—
—
—
0
0
(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma
15
108
1.60
0.65
3.3
2.0
u/l
93.4
162.0
1.13
15
100
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
11
73
1.69
0.64
3.2
1.9
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
0
22
0.00
0.61
0.0
1.5
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
0
23
0.00
0.60
0.0
1.0
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
16
203
0.66
0.57
2.8
3.1
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
8
118
0.60
0.56
2.5
5.0
ug/l
1.0
2.0
—
8
101
(3002582) Erythrocytes [#/volume] in Urine
15
113
1.51
0.52
5.7
2.8
e6/l
18.1
645.9
0.55
15
85
(3020682) Albumin/Creatinine [Ratio] in Urine
14
104
1.52
0.52
4.1
3.6
mg/mmol
36.2
6.1
—
7
60
(3018095) Leukocytes [#/volume] in Urine
16
123
1.49
0.51
7.9
3.3
e6/l
12.6
94.1
0.76
16
89
(3012516) Albumin [Mass/volume] in Urine
13
96
1.51
0.49
5.4
2.9
mg/l
287.0
35.6
—
7
60
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
15
115
1.47
0.48
4.1
3.3
u/l
29.3
26.7
0.17
15
109
(36304419) Bacteria [Presence] in Urine
13
97
1.49
0.47
4.8
2.8
—
—
—
0
0
(3019225) pH of Specimen
5
31
1.69
0.45
7.0
3.5
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
32
349
0.65
0.44
44.6
13.8
mg/l
34.7
21.0
0.98
25
270
(40761535) Cells panel - Urine sediment
5
32
1.64
0.44
7.6
2.8
—
—
—
0
0
(3022621) pH of Urine by Test strip
5
32
1.64
0.44
1.2
2.6
—
—
—
0
0
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
11
80
1.51
0.44
3.9
2.2
mg/l
3.4
3.2
0.10
11
68
(3001122) Ferritin [Mass/volume] in Serum or Plasma
17
136
1.42
0.43
6.5
2.3
ug/l
207.1
104.0
0.62
17
119
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
0
16
0.00
0.42
0.0
2.9
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
11
81
1.49
0.41
14.1
3.8
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
13
101
1.42
0.37
2.9
3.2
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
13
101
1.42
0.37
5.2
2.8
e6/l
0.2
0.5
0.43
13
70
(3041096) Erythrocytes [Presence] in Urine by Automated
8
107
0.69
0.34
3.1
3.5
—
—
—
0
0
(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma
8
63
1.33
0.30
1.8
4.2
mmol/l
2.4
2.5
—
8
54
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
12
143
0.77
0.23
5.0
3.8
—
—
—
0
0
(3002256) Pathology report gross observation
5
41
1.25
0.23
1.6
1.3
—
—
—
0
0
(3010130) Cytomegalovirus IgG Ab [Units/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
17
148
1.25
0.21
3.1
2.0
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
6
48
1.29
0.21
1.8
1.9
—
—
—
0
0
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
13
0.00
0.21
0.0
1.4
—
162.7
—
0
8
(1761482) Bacteria [#/volume] in Urine by Culture
0
13
0.00
0.21
0.0
4.0
—
—
—
0
0
(1002224) Polysomnography panel
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
18
159
1.23
0.19
7.0
3.7
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
20
179
1.22
0.19
8.3
7.0
umol/l
9.2
11.1
0.56
20
166
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
24
260
0.82
0.18
6.8
4.0
pmol/l
15.6
15.2
0.29
24
229
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
12
136
0.84
0.13
2.9
1.8
pmol/l
77.9
101.2
—
7
64
(3021601) Nitrite [Presence] in Urine by Test strip
19
177
1.13
0.08
6.0
4.6
estimate
0.0
0.0
—
5
41
(3031040) Bacteria [#/volume] in Urine by Automated count
21
221
0.90
0.06
6.9
4.2
—
9.3
—
0
6
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
12
111
1.11
0.04
3.3
2.2
u/l
48.8
55.8
0.40
12
100
(3009542) Hematocrit [Volume Fraction] of Blood
30
307
0.92
0.02
27.6
14.1
%
40.8
39.4
0.47
20
217
(3009261) Glucose [Presence] in Urine by Test strip
19
183
1.07
0.02
4.6
3.6
estimate
0.0
0.0
—
5
39
(3044889) 12 lead EKG panel
25
244
1.06
0.01
5.4
3.7
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
14
139
1.01
0.00
6.6
4.0
ng/l
98.2
43.3
—
9
96
(3013512) EKG study
10
103
0.96
0.00
5.1
3.9
—
—
—
0
0
(3035285) Chloride [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.4
—
105.2
—
0
5
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
2.8
—
0
6
(36306090) Helicobacter pylori [Presence] in Tissue by Organism specific culture
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
0
7
0.00
0.00
0.0
6.1
—
92.8
—
0
7
(40768793) Breast Pathology biopsy report
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(40768800) Prostate Pathology biopsy report
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
17.9
—
0
5
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3041354) Potassium [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.4
—
3.8
—
0
5
(4094501)
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3039443) Prostate specific Ag panel - Serum or Plasma
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3004616) Nuclear Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
9
90
1.00
0.00
1.6
1.7
mmol/l
1.5
1.3
—
9
75
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3035999) Lactate [Moles/volume] in Cerebral spinal fluid
0
6
0.00
0.00
0.0
1.0
—
1.6
—
0
6
(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3044290) Cell count panel - Cerebral spinal fluid
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3033705) Calcium.ionized [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.4
—
—
—
0
0
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3032773) Endomysium IgG Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.7
—
41.3
—
0
9
(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
0.9
—
0
5
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
2.9
—
19.3
—
0
9
(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3023183) Ammonium ion [Moles/volume] in Plasma
0
6
0.00
0.00
0.0
2.2
—
38.0
—
0
6

Mortality – FinRegistry

Association

Association between endpoint E4_AMYL_NONNEURO and mortality.

Females

Parameter HR [95% CI] p-value
E4_AMYL_NONNEURO 8.55 [5.5, 13.29] < 0.001
Birth year 0.993 [0.98, 1.0] 0.112

During the follow-up period (1.1.1998 — 31.12.2019), 88 out of 152 females with E4_AMYL_NONNEURO died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AMYL_NONNEURO.

N-year risk Females Males
1 0.804% No data
5 4.461% No data
10 10.862% No data
15 19.995% No data
20 33.185% No data

Relationships between endpoints

Index endpoint: E4_AMYL_NONNEURO – Non-neuropathic heredofamilial amyloidosis

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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