Other disorders of amino-acid metabolism

E4_AMINO

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 — E72 Cause of death: ICD-10 — E72 2 out of 7 registries used, show all original rules.	149
4. Check minimum number of events None	149
5. Include endpoints E4_AMINOTRANSPORT E4_SULFURMET E4_UREACYCLE E4_LYSINEHYDRO E4_ORNITHINE E4_GLYCINE E4_AMINONAS	168
6. Filter based on genotype QC (FinnGen only)	168

Control definitions (FinnGen only)

Control exclude: E4_METABOLIA

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: E70-E90
Name in latin: Aliae perturbationes metabolismi acidorum aminoicorum

NAME	E4_AMINO
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	E4_AMINOTRANSPORT\|E4_SULFURMET\|E4_UREACYCLE\|E4_LYSINEHYDRO\|E4_ORNITHINE\|E4_GLYCINE\|E4_AMINONAS
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E72
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E72
COD_ICD_9
COD_ICD_8
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

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List of similar endpoints to Other disorders of amino-acid metabolism based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	1745	846	887
Only index persons	1331	659	672
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.02
Only index persons	0.02	0.02	0.03
Median age at first event (years)
Whole population	52.90	55.02	50.64
Only index persons	53.93	55.81	52.09

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	168	85	83
Unadjusted period prevalence (%)	0.03	0.03	0.04
Median age at first event (years)	52.70	47.48	58.05

-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
157: Matched controls
1569

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E72.0

ICD-10 Finland

Disorders of amino-acid transport

+∞

47.3

E72.2

ICD-10 Finland

Disorders of urea cycle metabolism

+∞

25.7

E72.8

ICD-10 Finland

Other specified disorders of amino-acid metabolism

+∞

23.5

503

Kela drug reimbursment

Inborn metabolic disorders

+∞

23.5

E72.5

ICD-10 Finland

Disorders of glycine metabolism

+∞

21.3

E72.4

ICD-10 Finland

Disorders of ornithine metabolism

+∞

13.7

124

Kela drug reimbursment

Inborn metabolic disorders

+∞

12.7

E72.9

ICD-10 Finland

Disorder of amino-acid metabolism, unspecified

+∞

12.7

E78.5

ICD-10 Finland

Hyperlipidaemia, unspecified

15.1

12.3

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

4.8

12.1

118

E72.3

ICD-10 Finland

Disorders of lysine and hydroxylysine metabolism

+∞

11.6

E87.1

ICD-10 Finland

Hypo-osmolality and hyponatraemia

+∞

11.6

E78.01

ICD-10 Finland

Pure hypercholesterolaemia

6.2

11.2

N18.9

ICD-10 Finland

Chronic kidney disease, unspecified

10.0

11.2

C10AA01

ATC

simvastatin; oral

3.3

11.2

370

E78.00

ICD-10 Finland

Familial hypercholesterolaemia

+∞

10.5

A10AB05

ATC

insulin aspart; parenteral (insulins and analog. for injection, fast-acting)

6.0

10.0

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

4.3

10.0

111

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

4.0

9.6

132

A11CC03

ATC

alfacalcidol; systemic

23.4

9.5

A10AE04

ATC

insulin glargine; parenteral

5.5

9.5

A09

ICD-10 Finland

Other gastroenteritis and colitis of infectious and unspecified origin

3.8

9.0

134

E11.9

ICD-10 Finland

Type 2 diabetes mellitus, without complications

3.4

8.8

191

I10

ICD-10 Finland

Essential (primary) hypertension

2.8

8.8

520

103

Kela drug reimbursment

Diabetes, insulin-treated

3.1

8.7

235

A10AC01

ATC

insulin (human); parenteral (insulins and analog. for injection, intermediate-acting)

5.2

8.7

TK800

NOMESCO Finland

Hemodialysis

17.6

8.7

C03CA01

ATC

furosemide; systemic

3.1

8.6

250

138

Kela drug reimbursment

Severe anaemia associated with chronic renal failure

21.5

8.6

E72.1

ICD-10 Finland

Disorders of sulfur-bearing amino-acid metabolism

+∞

8.4

E11.7

ICD-10 Finland

Type 2 diabetes mellitus, with multiple complications

7.6

8.4

123

Kela drug reimbursment

Chronic disorders of vitamin D metabolism

18.4

8.2

E78.9

ICD-10 Finland

Disorder of lipoprotein metabolism, unspecified

35.4

8.2

GD1AA

NOMESCO Finland

Thorax X-ray examination

2.7

8.1

429

N17.9

ICD-10 Finland

Acute renal failure, unspecified

8.5

8.1

D64.9

ICD-10 Finland

Anaemia, unspecified

4.8

7.9

N05CD07

ATC

temazepam; oral

3.8

7.6

102

N10

ICD-10 Finland

Acute tubulo-interstitial nephritis

3.6

7.3

112

A49.9

ICD-10 Finland

Bacterial infection, unspecified

4.1

7.2

DM1QA

NOMESCO Finland

Paranasal sinuses X-ray examination in one projection

8.2

7.1

A41.0

ICD-10 Finland

Sepsis due to Staphylococcus aureus

14.7

7.0

AA1AD

NOMESCO Finland

CT of head and brain

3.0

6.9

178

A41.9

ICD-10 Finland

Sepsis, unspecified

10.0

6.9

J01FF01

ATC

clindamycin; systemic

2.8

6.8

239

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

2.8

6.8

225

L28

ICPC

Limited function/disability (L)

3.4

6.8

118

Z94.0

ICD-10 Finland

Kidney transplant status

41.9

6.8

I25.1

ICD-10 Finland

Atherosclerotic heart disease

3.0

6.8

163

C01DA14

ATC

isosorbide mononitrate; oral

3.5

6.7

107

C10AA05

ATC

atorvastatin; oral

2.6

6.7

278

KH1AE

NOMESCO Finland

Urinary tract ultrasound examination

4.9

6.7

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

4.9

6.7

I25.9

ICD-10 Finland

Chronic ischaemic heart disease, unspecified

4.0

6.6

A10AB01

ATC

insulin (human); parenteral (insulins and analog. for injection, fast-acting)

8.0

6.6

E11.00

ICD-10 Finland

Non-insulin dependent diabetes diabetic hypoglycaemic coma

8.0

6.6

215

Kela drug reimbursment

Diabetes, non-insulin-treated

2.9

6.4

183

A10AB04

ATC

insulin lispro; parenteral (insulins and analog. for injection, fast-acting)

9.9

6.4

M04AA01

ATC

allopurinol; systemic

3.3

6.4

112

A10AE05

ATC

insulin detemir; parenteral

5.1

6.4

Z49.1

ICD-10 Finland

Extracorporeal dialysis

19.0

6.3

TPH04

NOMESCO Finland

Cathetrisation of vein

3.0

6.3

157

N16.3*E72.0

ICD-10 Finland

Renal tubulo-interstitial disorders in cystinosis

+∞

6.3

2700A

ICD-9 Finland

Disorders of amino-acid transport and metabolism, Disturbances of amino-acid transport[CYSTINURIA]

+∞

6.3

XF400

NOMESCO Finland

ECG with 12 standard connections

3.1

6.2

132

SPAT1262

SPAT

Handing over of treatment supplies

3.1

6.2

132

J18.9

ICD-10 Finland

Pneumonia, unspecified

2.7

6.2

215

SPAT1222

SPAT

Counselling/guidance promoting independent living

3.4

6.1

103

ZX120

NOMESCO Finland

Intravenous

4.4

6.1

Mortality – FinRegistry

↥

Association

Association between endpoint E4_AMINO and mortality.

Females

Parameter	HR [95% CI]	p-value
E4_AMINO	2.512 [1.93, 3.26]	< 0.001
Birth year	0.993 [0.98, 1.0]	0.091

During the follow-up period (1.1.1998 — 31.12.2019), 205 out of 578 females with E4_AMINO died.

Males

Parameter	HR [95% CI]	p-value
E4_AMINO	3.747 [2.76, 5.09]	< 0.001
Birth year	0.986 [0.98, 1.0]	0.005

During the follow-up period (1.1.1998 — 31.12.2019), 230 out of 601 males with E4_AMINO died.

Mortality risk

Mortality risk for people of age

years, who have E4_AMINO.

N-year risk	Females	Males
1	0.268%	0.683%
5	1.525%	4.062%
10	3.659%	10.004%
15	6.716%	18.481%
20	11.084%	29.844%

Relationships between endpoints

↥

Index endpoint: E4_AMINO – Other disorders of amino-acid metabolism

GWS hits: 1

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

Loading data

Other disorders of amino-acid metabolism

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)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints