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

Neuropathic heredofamilial amyloidosis

E4_AMYL_NEUROHER

No definition available.

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 — E85.1 Cause of death: ICD-10 — E85.1 2 out of 7 registries used, show all original rules.	14
4. Check minimum number of events None	14
5. Include endpoints None	14
6. Filter based on genotype QC (FinnGen only)	14

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 neuropathica

NAME	E4_AMYL_NEUROHER
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	E851
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	E851
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 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:

Not enough data for upset plot.

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	123	65	56
Only index persons	86	46	40
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	66.14	66.78	65.11
Only index persons	64.71	63.80	65.76

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	14	10	-
Unadjusted period prevalence (%)	0.00	0.00	-
Median age at first event (years)	56.40	56.46	-

-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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3002256) Pathology report gross observation

9.48

3.05

1.7

1.3

—

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

0.00

0.88

0.0

1.3

—

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

2.32

0.85

1.7

3.2

—

(3021589) Normoblasts [#/volume] in Blood

2.46

0.84

9.0

14.1

e9/l

0.0

—

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

0.00

0.66

0.0

1.7

—

(3015736) pH of Urine

1.91

0.59

2.3

3.4

—

(3026008) Bacteria identified in Urine by Culture

2.03

0.51

4.0

2.3

—

(3013512) EKG study

1.73

0.46

3.4

3.5

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

0.00

0.44

0.0

3.4

—

30.1

—

(40768804) Tissue Pathology biopsy report

1.74

0.43

5.2

2.1

—

(36304419) Bacteria [Presence] in Urine

1.54

0.28

2.0

2.4

—

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

1.58

0.26

5.0

2.5

ug/l

56.8

89.7

—

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

0.67

0.24

2.4

3.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

1.47

0.24

4.0

4.5

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

0.71

0.23

8.2

13.3

e9/l

3.3

3.8

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.22

0.0

1.1

—

(3017732) Neutrophils [#/volume] in Blood

0.00

0.22

0.0

3.5

—

3.0

—

(3019198) Lymphocytes [#/volume] in Blood

0.82

0.11

3.8

6.5

e9/l

2.3

2.0

—

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

0.00

0.0

1.8

—

(3022621) pH of Urine by Test strip

0.00

0.0

1.8

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

1.6

—

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

0.00

0.0

2.3

—

1.1

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

1.6

—

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

0.00

0.0

1.6

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.6

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.6

—

(3001604) Monocytes [#/volume] in Blood

0.89

0.00

3.8

6.5

e9/l

0.5

0.6

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.0

1.6

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.0

1.6

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

1.6

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.0

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.0

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.0

1.4

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

0.0

1.6

—

(3002173) Hemoglobin [Mass/volume] in Arterial blood

0.00

0.0

6.3

—

126.7

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.0

—

(3022313) Gas panel - Capillary blood

0.00

0.0

4.4

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.0

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.0

1.0

—

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

1.10

0.00

5.0

3.3

—

(3012336) Haptoglobin [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

1.2

—

(3000991) Gas panel - Venous blood

0.00

0.0

2.4

—

(3023420) DNA double strand Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

1.10

0.00

5.2

4.4

—

(3003396) Base excess in Arterial blood by calculation

0.00

0.0

7.3

—

0.7

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.1

—

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

0.00

0.0

1.7

—

(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting

0.00

0.0

1.0

—

0.9

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

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

0.00

0.0

1.4

—

(1002224) Polysomnography panel

0.00

0.0

1.0

—

(3009343) pH of Capillary blood

0.00

0.0

4.2

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

0.00

0.0

4.2

—

25.9

—

(3027801) Oxygen [Partial pressure] in Arterial blood

0.00

0.0

7.3

—

10.4

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.0

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.2

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

0.00

0.0

2.2

—

3.9

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.0

—

(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood

0.00

0.0

1.3

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.0

1.6

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.0

2.6

—

(4094501)

0.00

0.0

1.0

—

(3016502) Oxygen saturation in Arterial blood

0.00

0.0

6.5

—

95.9

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

0.00

0.0

1.2

—

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

0.00

0.0

7.3

—

5.7

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_AMYL_NEUROHER and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AMYL_NEUROHER.

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_NEUROHER – 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

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 (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints