Non-neuropathic heredofamilial amyloidosis

E4_AMYL_NONNEURO

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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.	46
4. Check minimum number of events None	46
5. Include endpoints None	46
6. Filter based on genotype QC (FinnGen only)	44

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

NAME	E4_AMYL_NONNEURO
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E850
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E850
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Non-neuropathic heredofamilial amyloidosis based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

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	44	25	19
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	56.48	50.16	64.79

-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

↥

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

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3004588) Protein electrophoresis panel - Serum or Plasma

10.64

7.28

3.9

1.3

—

(3037756) Immunofixation for Serum or Plasma

20.70

7.11

2.2

1.3

—

(40760888) Immunoglobulin light chains.free panel - Serum

18.88

5.63

9.0

1.2

—

(3013005) Retinol [Moles/volume] in Serum or Plasma

+∞

5.30

2.8

0.0

2.30

—

umol/l

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

15.72

5.29

1.5

1.08

0.99

g/l

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

15.72

5.29

1.5

0.20

0.18

g/l

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

4.46

4.82

4.3

1.6

18.75

21.13

0.38

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

134

3.78

4.64

4.2

1.7

77.52

75.36

nmol/l

0.16

113

(3022948) Iron [Moles/volume] in Serum or Plasma

4.10

4.49

4.7

1.6

10.57

12.84

umol/l

0.81

(3023368) Bacteria identified in Blood by Culture

3.44

3.92

7.9

5.3

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

8.01

3.50

2.4

1.0

—

(3042936) Bacteria identified in Isolate by Culture

3.42

3.37

2.7

2.4

—

(3006504) Eosinophils/100 leukocytes in Blood

164

3.08

3.31

12.7

5.3

2.69

2.55

0.16

155

(3019069) Monocytes/100 leukocytes in Blood

165

3.05

3.26

12.8

5.6

8.23

8.69

0.47

156

(3012544) pH of Venous blood

4.19

3.16

3.9

2.1

—

(3002030) Lymphocytes/100 leukocytes in Blood

169

2.94

3.06

13.1

5.3

30.10

28.10

0.41

161

(3000494) Fungus identified in Specimen by Culture

3.69

2.98

2.2

1.6

—

(3022096) Basophils/100 leukocytes in Blood

163

2.83

2.91

13.2

5.1

0.60

0.68

0.41

152

(40758558) Short blood count panel - Blood

2.92

2.89

8.6

7.1

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

9.14

2.82

4.6

1.0

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

139

2.75

2.82

11.6

4.7

33.50

35.40

g/l

0.65

128

(40760892) CBC W Ordered Manual Differential panel - Blood

168

2.70

2.67

14.5

6.2

—

(3018010) Neutrophils/100 leukocytes in Blood

168

2.70

2.67

11.9

5.2

56.79

56.53

0.04

160

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

2.92

2.52

5.2

3.0

5.23

2.75

e6/l

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

3.47

2.30

2.9

6.4

101.89

103.93

mmol/l

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

133

2.46

2.27

6.5

2.9

—

(3007853) Bacteria identified in Skin by Aerobe culture

3.08

2.17

1.7

2.1

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

4.14

2.00

1.7

4.0

26.57

24.71

mmol/l

—

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

4.53

1.87

2.0

1.5

—

(3009445) Proteinase 3 Ab [Units/volume] in Serum

4.53

1.87

1.0

—

(3044640) Blood type and Crossmatch panel - Blood

109

2.27

1.83

3.8

2.4

—

(3045414) Leukocytes [Presence] in Urine

3.87

1.66

1.0

2.2

—

(3022313) Gas panel - Capillary blood

3.87

1.66

6.0

2.9

—

(3037467) Urinalysis macro (dipstick) panel - Urine

235

2.19

1.60

6.3

4.2

—

(3009542) Hematocrit [Volume Fraction] of Blood

421

0.38

1.53

52.2

19.8

39.56

40.27

0.31

402

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

2.55

1.50

1.4

1.6

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

2.13

1.45

4.9

3.0

—

(3022217) INR in Platelet poor plasma by Coagulation assay

154

1.99

1.42

8.9

13.9

0.98

1.29

inr

—

(3019060) Gas panel - Arterial blood

3.17

1.39

3.8

3.4

—

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

2.14

1.28

4.6

2.9

2.20

1.12

e6/l

—

(3002582) Erythrocytes [#/volume] in Urine

114

1.95

1.28

6.1

3.0

16.39

657.27

e6/l

0.56

(3004119) Hemoglobin [Mass/volume] in Venous blood

2.82

1.25

5.0

2.4

107.40

127.26

g/l

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

2.50

1.23

2.5

1.6

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

2.50

1.23

5.7

4.7

1.12

1.30

mmol/l

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

109

1.89

1.15

3.2

2.0

97.35

160.02

u/l

1.06

100

(3015377) Calcium [Moles/volume] in Serum or Plasma

127

1.85

1.13

3.5

3.0

2.30

2.35

mmol/l

0.79

107

(3030467) Casts [#/volume] in Urine by Automated count

101

1.90

1.13

5.7

3.0

0.27

0.47

e6/l

0.38

(3000991) Gas panel - Venous blood

2.54

1.12

2.6

5.4

—

(3021589) Normoblasts [#/volume] in Blood

148

1.77

1.04

20.3

12.0

0.00

e9/l

-0.00

123

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

2.05

1.01

1.7

2.1

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

2.09

0.95

1.5

—

(36304419) Bacteria [Presence] in Urine

1.76

0.90

5.7

3.0

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

117

1.72

0.89

4.1

3.4

28.53

26.41

u/l

0.16

111

(3012516) Albumin [Mass/volume] in Urine

100

1.74

0.87

4.9

3.1

228.00

45.13

mg/l

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

145

1.67

0.86

6.8

2.2

181.98

98.34

ug/l

0.57

127

(3020682) Albumin/Creatinine [Ratio] in Urine

109

1.72

0.86

3.8

3.7

28.43

6.99

mg/mmol

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

2.21

0.77

3.2

1.3

—

(40761511) CBC panel - Blood by Automated count

398

0.56

0.72

33.5

13.1

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

1.70

0.71

4.1

2.3

—

(3003694) ABO and Rh group [Type] in Blood

111

0.56

0.69

1.6

—

(3026008) Bacteria identified in Urine by Culture

108

1.58

0.64

3.5

3.0

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.61

0.0

1.5

—

(3002256) Pathology report gross observation

1.62

0.55

1.5

1.3

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

1.56

0.53

4.1

2.1

3.14

3.08

mg/l

0.03

(3021601) Nitrite [Presence] in Urine by Test strip

188

1.45

0.53

6.6

4.3

0.00

estimate

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

182

1.40

0.45

8.2

7.3

9.45

10.67

umol/l

0.35

166

(3035350) Ketones [Presence] in Urine by Test strip

192

1.40

0.45

4.7

3.4

0.00

estimate

—

(3009261) Glucose [Presence] in Urine by Test strip

192

1.40

0.45

4.7

3.5

0.00

estimate

—

(3019225) pH of Specimen

1.53

0.42

7.0

3.4

—

(40761535) Cells panel - Urine sediment

1.53

0.42

7.6

2.6

—

(3022621) pH of Urine by Test strip

1.53

0.42

1.2

2.7

—

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

1.43

0.41

1.9

3.7

2.38

2.44

mmol/l

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.41

0.0

2.8

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

368

0.71

0.36

5.9

4.2

4.41

4.68

mmol/l

1.05

339

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

168

1.34

0.36

4.7

2.6

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

130

0.71

0.36

2.4

5.1

1.00

1.93

ug/l

—

113

(46235355) HIV 1 and 2 tests - Meaningful Use set

1.38

0.30

2.0

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

286

0.79

0.26

6.8

3.9

15.49

15.09

pmol/l

0.29

253

(40768804) Tissue Pathology biopsy report

156

1.25

0.23

2.9

1.9

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

1.28

0.23

2.2

2.0

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

224

0.81

0.22

3.0

3.1

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.2

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.1

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

0.00

0.21

0.0

1.1

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.21

0.0

1.1

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

0.00

0.21

0.0

1.0

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.4

—

(3010130) Cytomegalovirus IgG Ab [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.1

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

0.21

0.0

1.5

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

379

0.77

0.21

43.9

13.7

35.55

21.71

mg/l

1.19

288

(1002224) Polysomnography panel

0.00

0.20

0.0

1.1

—

(3044889) 12 lead EKG panel

261

1.19

0.15

5.0

3.7

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

113

1.21

0.15

3.5

2.7

48.31

55.18

u/l

0.43

100

(3015736) pH of Urine

146

0.85

0.12

5.8

2.9

—

5.77

—

(3022145) Colonoscopy Study observation

1.07

0.10

1.2

—

(1761868) Lipid panel - Serum or Plasma

143

0.87

0.09

2.2

2.8

—

(3013512) EKG study

109

1.14

0.07

4.6

3.8

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

151

0.90

0.06

4.9

3.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

109

0.89

0.04

3.3

3.4

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

1.10

0.02

1.5

1.6

1.43

1.33

mmol/l

—

(3031040) Bacteria [#/volume] in Urine by Automated count

236

0.95

0.00

7.7

4.2

—

9.33

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

145

0.95

0.00

2.8

1.8

78.17

102.09

pmol/l

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

142

0.98

0.00

6.6

4.1

98.22

42.05

ng/l

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

2.9

—

19.33

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

1.56

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

-0.00

0.0

1.2

—

(36306090) Helicobacter pylori [Presence] in Tissue by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

0.00

-0.00

0.0

1.1

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

-0.00

0.0

1.7

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.7

—

41.33

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

-0.00

0.0

1.5

—

(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

1.0

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

6.5

—

29.45

—

(3023183) Ammonium ion [Moles/volume] in Plasma

0.00

-0.00

0.0

2.2

—

38.00

—

(40768793) Breast Pathology biopsy report

0.00

-0.00

0.0

1.0

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

-0.00

0.0

1.6

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

17.86

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.5

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

-0.00

0.0

1.6

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

-0.00

0.0

2.7

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

-0.00

0.0

1.1

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

0.90

-0.00

1.7

1.4

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

0.96

-0.00

2.0

1.7

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.5

—

2.78

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

0.87

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

-0.00

0.0

1.2

—

90.08

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.3

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.3

—

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

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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

Loading data

Non-neuropathic heredofamilial amyloidosis

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints