Disorders of fatty-acid metabolism

E4_FATTYACID

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 — E71.3 Cause of death: ICD-10 — E71.3 2 out of 7 registries used, show all original rules.	26
4. Check minimum number of events None	26
5. Include endpoints None	26
6. Filter based on genotype QC (FinnGen only)	26

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: E71
Name in latin: Perturbationes metabolismi acidorum lipidicorum

NAME	E4_FATTYACID
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	E713
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	E713
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 Disorders of fatty-acid metabolism 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	256	126	130
Only index persons	176	94	82
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	-	21.85	17.46
Only index persons	33.54	35.83	30.91

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	26	16	10
Unadjusted period prevalence (%)	0.01	0.01	0.00
Median age at first event (years)	55.51	46.18	70.44

-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

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3000991) Gas panel - Venous blood

8.93

6.14

25.4

4.0

—

(3000722) Carnitine free (C0) [Moles/volume] in Serum or Plasma

+∞

5.37

3.0

0.0

28.6

—

umol/l

—

(3033882) Carnitine [Moles/volume] in Serum or Plasma

+∞

5.37

2.6

0.0

33.0

—

umol/l

—

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

6.42

5.20

3.9

2.2

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

7.88

5.14

28.0

4.7

1.2

mmol/l

0.28

(3020779) Urea [Moles/volume] in Serum or Plasma

9.90

4.22

14.6

2.4

7.1

9.4

mmol/l

—

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

7.96

4.09

30.9

10.7

23.8

24.9

mmol/l

—

(42870588) Differential panel, method unspecified - Blood

4.81

3.64

7.1

3.6

—

(36304419) Bacteria [Presence] in Urine

4.45

3.39

5.4

2.5

—

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

11.91

3.11

4.0

2.6

2.9

2.3

g/l

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

11.91

3.11

4.0

3.2

198.0

206.6

—

(3044640) Blood type and Crossmatch panel - Blood

4.06

3.01

5.8

2.3

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

8.48

2.67

4.8

2.6

97.8

95.3

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

118

3.99

2.49

10.2

3.7

6.6

6.4

mmol/l

0.23

109

(40758558) Short blood count panel - Blood

3.33

2.25

14.9

5.1

—

(3002032) Base excess in Venous blood by calculation

3.97

2.24

29.4

2.6

0.8

2.2

mmol/l

—

(3021589) Normoblasts [#/volume] in Blood

3.16

2.19

9.9

8.3

0.0

e9/l

0.00

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

2.93

1.85

5.4

2.7

—

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

4.48

1.80

43.8

10.1

22.7

24.9

mmol/l

—

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

2.76

1.51

1.5

1.4

1.2

1.3

mmol/l

—

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

2.62

1.51

4.4

4.1

—

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

2.61

1.50

2.7

1.8

102.1

99.0

pmol/l

—

(40768804) Tissue Pathology biopsy report

2.56

1.45

2.5

1.9

—

(3037467) Urinalysis macro (dipstick) panel - Urine

133

2.58

1.41

5.5

3.8

—

(3044889) 12 lead EKG panel

135

2.51

1.38

4.7

3.4

—

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

2.67

1.36

1.6

3.9

2.5

mmol/l

—

(3022145) Colonoscopy Study observation

3.00

1.28

1.2

—

(3042936) Bacteria identified in Isolate by Culture

2.81

1.24

2.4

1.8

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

2.84

1.21

2.2

1.7

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

126

2.39

1.20

5.0

3.1

38.1

44.9

u/l

0.29

119

(3023368) Bacteria identified in Blood by Culture

2.33

1.11

6.0

4.1

—

(3002256) Pathology report gross observation

2.56

1.08

1.0

1.2

—

(3026008) Bacteria identified in Urine by Culture

2.16

0.98

5.5

2.9

—

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

2.03

0.86

2.7

3.3

2.4

mmol/l

0.27

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

0.00

0.83

0.0

9.2

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

173

2.11

0.73

8.0

5.0

35.6

38.8

mmol/mol

1.46

161

(3048689) Calprotectin [Mass/mass] in Stool

1.89

0.67

3.8

1.8

86.2

105.1

ug/g

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.00

0.61

0.0

1.5

—

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

0.00

0.42

0.0

2.1

—

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

0.60

0.42

5.3

3.8

—

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

156

1.50

0.39

2.6

3.1

—

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

156

1.50

0.39

4.9

3.4

14.6

14.5

pmol/l

0.08

139

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

1.43

0.37

2.2

1.8

—

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

1.37

0.33

4.1

3.4

—

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

1.43

0.25

2.4

1.8

—

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

0.00

0.22

0.0

1.7

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.22

0.0

4.0

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

0.22

0.0

4.3

—

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

0.00

0.22

0.0

1.3

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.21

0.0

1.8

—

(3009508) Creatinine [Moles/volume] in Urine

1.23

0.21

3.0

2.3

9.0

mmol/l

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.8

—

(3041008) Bicarbonate [Moles/volume] standard in Arterial cord blood

0.00

0.0

1.0

—

19.6

—

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

0.00

0.0

1.3

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.5

—

33.3

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.2

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.85

0.00

5.8

3.4

—

(3003932) Carbon dioxide [Partial pressure] in Arterial cord blood

0.00

0.0

1.0

—

7.8

—

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

0.00

0.0

1.8

—

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

0.94

0.00

1.3

1.4

—

(3015736) pH of Urine

0.96

0.00

3.9

3.6

—

(42870560) Thyrotropin [Units/volume] in Cord blood

0.00

0.0

1.0

—

7.1

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(3006598) pH of Arterial cord blood

0.00

0.0

1.0

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

5.0

—

27.7

—

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

0.00

0.0

1.4

—

(3038515) Glucose [Moles/volume] in Venous blood

0.00

0.0

3.1

—

7.4

—

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

0.00

0.0

1.2

—

(3040151) Glucose [Moles/volume] in Capillary blood

0.00

0.0

3.1

—

6.0

—

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

0.00

0.0

1.0

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(3004959) Base excess in Arterial cord blood by calculation

0.00

0.0

1.0

—

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(4034850)

0.00

0.0

42.8

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

0.0

3.1

—

1.7

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.0

1.4

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.2

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

56.7

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_FATTYACID and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_FATTYACID.

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_FATTYACID – Disorders of fatty-acid metabolism

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

Disorders of fatty-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)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints