This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

E4_AMYLNAS

Heredofamilial amyloidosis, unspecified

Endpoint Browser

E4_AMYL_HEREDOFAM

No definition available.

Suggest a new description

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 — E85.2 Cause of death: ICD-10 — E85.2 2 out of 7 registries used, show all original rules.	13
4. Check minimum number of events None	13
5. Include endpoints None	13
6. Filter based on genotype QC (FinnGen only)	13

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 specificata

NAME	E4_AMYL_HEREDOFAM
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	E852
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	E852
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 Heredofamilial amyloidosis, unspecified 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	117	69	44
Only index persons	79	49	30
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	65.44	66.03	65.72
Only index persons	64.11	63.90	64.44

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	13	9	-
Unadjusted period prevalence (%)	0.00	0.00	-
Median age at first event (years)	62.21	56.52	-

-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)

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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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

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

4.64

1.84

4.3

1.5

umol/l

11.6

15.6

—

(3009508) Creatinine [Moles/volume] in Urine

3.56

1.45

2.5

2.4

mmol/l

4.7

6.2

—

(3029937) Albumin [Presence] in Urine by Test strip

0.00

1.15

0.0

5.4

—

0.0

—

(3044640) Blood type and Crossmatch panel - Blood

2.74

0.86

2.4

2.3

—

(3013512) EKG study

2.60

0.83

6.6

4.0

—

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

2.04

0.60

2.1

3.2

—

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

1.83

0.48

2.6

3.3

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

0.00

0.44

0.0

1.7

—

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

0.00

0.44

0.0

1.7

—

(3018418) pH of Serum or Plasma

1.63

0.28

13.4

2.9

—

7.4

—

(42870588) Differential panel, method unspecified - Blood

1.40

0.26

2.8

6.0

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

0.00

0.22

0.0

1.8

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

0.00

0.22

0.0

1.8

—

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

0.00

0.22

0.0

1.2

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

0.79

0.12

6.8

5.1

mmol/mol

35.9

39.1

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

0.79

0.12

4.3

4.0

mmol/l

1.2

1.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

1.25

0.11

4.9

4.8

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.0

1.2

—

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

1.10

0.00

6.9

3.8

pmol/l

17.0

14.3

—

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

0.00

0.0

2.0

—

3.9

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.2

—

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

0.97

0.00

3.6

5.7

—

0.0

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

0.00

0.0

1.8

—

24.8

—

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

0.97

0.00

2.4

4.5

—

0.0

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.0

1.1

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

0.00

0.0

1.2

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.0

1.8

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

0.00

0.0

1.4

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

0.0

1.2

—

9.3

—

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

0.00

0.0

1.7

—

126.4

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.5

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.2

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

1.0

—

7.9

—

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

0.00

0.0

1.2

—

(3044889) 12 lead EKG panel

0.91

0.00

6.0

3.4

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.0

1.4

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

0.00

0.0

1.3

—

(3010421) pH of Blood

0.00

0.0

1.2

—

7.4

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

0.00

0.0

8.3

—

(4010399)

0.00

0.0

1.1

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

1.0

—

5.0

—

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

1.07

0.00

2.4

4.7

—

0.0

—

(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma

0.00

0.0

1.8

—

7.0

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.0

7.5

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

4.0

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

0.00

0.0

2.3

—

0.2

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

0.00

0.0

3.1

—

(3002256) Pathology report gross observation

0.00

0.0

1.3

—

(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma

0.00

0.0

4.4

—

11.6

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

0.00

0.0

5.0

—

0.1

—

(3019060) Gas panel - Arterial blood

0.00

0.0

2.2

—

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

0.00

0.0

2.3

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_AMYL_HEREDOFAM and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AMYL_HEREDOFAM.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: E4_AMYL_HEREDOFAM – Heredofamilial amyloidosis, unspecified

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

Heredofamilial amyloidosis, unspecified

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 (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints