Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

E4_BRANCHAMINOFATAC

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 Cause of death: ICD-10 — E71 2 out of 7 registries used, show all original rules.	-
4. Check minimum number of events None	-
5. Include endpoints E4_MAPLESYRUP E4_BRANCHAMINONAS E4_FATTYACID	45
6. Filter based on genotype QC (FinnGen only)	45

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: Perturbationes metabolismi acidorum aminoicorum cum catenis ramosis et acidorum lipidicorum

NAME	E4_BRANCHAMINOFATAC
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	E4_MAPLESYRUP\|E4_BRANCHAMINONAS\|E4_FATTYACID
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E71
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E71
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

↥

List of similar endpoints to Disorders of branched-chain amino-acid metabolism and fatty-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

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	385	180	205
Only index persons	278	139	139
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	-	28.25	29.73
Only index persons	37.55	38.78	36.31

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	45	22	23
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	58.91	51.02	66.45

-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

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

+∞

7.48

3.6

0.0

32.3

—

umol/l

—

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

+∞

7.48

3.4

0.0

49.9

—

umol/l

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

4.45

5.76

2.5

3.2

2216.5

1443.1

ng/l

0.60

(3000991) Gas panel - Venous blood

4.99

5.47

23.4

4.6

—

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

5.04

5.29

27.1

14.4

24.4

24.9

mmol/l

0.22

(42870588) Differential panel, method unspecified - Blood

127

3.81

4.61

9.8

7.9

—

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

3.95

4.38

3.9

2.7

—

(3044640) Blood type and Crossmatch panel - Blood

3.29

3.61

5.0

2.5

—

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

7.29

3.32

3.6

6.6

181.4

195.7

—

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

7.29

3.32

3.1

6.4

2.9

3.0

g/l

—

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

217

3.32

3.08

12.0

10.9

3.3

3.8

e9/l

0.60

185

(3001604) Monocytes [#/volume] in Blood

188

3.09

3.07

5.5

7.1

0.5

e9/l

0.04

162

(3006315) Basophils [#/volume] in Blood

189

3.06

3.02

7.0

7.1

0.0

e9/l

0.20

162

(3002032) Base excess in Venous blood by calculation

3.32

2.93

26.1

7.8

1.4

1.9

mmol/l

0.27

(3013115) Eosinophils [#/volume] in Blood

193

2.95

2.84

9.1

8.1

0.2

e9/l

0.47

165

(40758558) Short blood count panel - Blood

100

2.80

2.76

10.9

8.3

—

(3019198) Lymphocytes [#/volume] in Blood

195

2.90

2.75

6.8

7.4

1.8

2.0

e9/l

0.62

173

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

3.05

2.69

8.3

2.9

23.3

349.0

ng/l

—

(36304419) Bacteria [Presence] in Urine

2.77

2.66

4.5

2.4

—

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

171

2.69

2.57

6.0

6.4

16.0

11.8

umol/l

0.71

162

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

2.66

2.48

4.7

2.4

0.2

e6/l

0.05

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

117

2.49

2.26

2.3

1.8

107.2

97.3

pmol/l

—

(3002582) Erythrocytes [#/volume] in Urine

112

2.41

2.10

5.4

2.7

16.4

14.5

e6/l

0.11

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

131

2.33

1.99

4.3

4.2

—

(3018095) Leukocytes [#/volume] in Urine

132

2.30

1.95

7.1

3.3

69.6

42.5

e6/l

0.22

(3000067) Parathyrin.intact [Mass/volume] in Serum or Plasma

3.13

1.90

10.3

1.6

114.7

67.3

ng/l

—

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

2.49

1.90

1.5

1.4

1.3

mmol/l

0.23

(3000850) Epithelial cells [#/volume] in Urine

2.33

1.66

2.4

2.2

2.5

4.9

e6/l

1.48

(3022313) Gas panel - Capillary blood

2.99

1.66

42.1

7.0

—

(3022145) Colonoscopy Study observation

2.72

1.63

1.4

1.2

—

(40768804) Tissue Pathology biopsy report

106

2.16

1.61

2.3

—

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

2.88

1.59

38.3

6.7

22.8

24.5

mmol/l

—

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

187

2.11

1.58

4.0

3.4

33.2

43.3

u/l

0.76

175

(3021589) Normoblasts [#/volume] in Blood

172

2.02

1.45

8.2

11.6

0.0

e9/l

0.00

138

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

2.99

1.32

3.4

6.1

—

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

2.19

1.25

6.8

2.4

1.8

2.9

e6/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

222

1.86

1.12

5.6

4.1

—

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

2.55

1.12

2.0

1.7

—

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

128

1.84

1.10

5.4

2.6

—

(3042936) Bacteria identified in Isolate by Culture

2.04

1.07

2.2

1.6

—

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

281

1.86

0.94

25.3

11.8

77.0

81.8

ml/min/173m2

0.53

209

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

2.15

0.91

2.2

1.7

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.89

0.75

1.9

1.5

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.89

0.75

44.0

19.7

—

1.6

—

(21494755) Public health laboratory ask at order entry panel

2.12

0.75

1.0

1.3

—

(3002385) Erythrocyte distribution width [Ratio]

301

1.73

0.73

43.9

16.7

13.8

13.6

0.25

296

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

1.81

0.66

2.4

3.2

—

(3023368) Bacteria identified in Blood by Culture

1.60

0.64

6.0

4.0

—

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

1.75

0.63

5.6

3.5

1.5

2.8

ug/l

—

(3000492) Spirometry study

1.88

0.61

1.8

1.3

—

(3009508) Creatinine [Moles/volume] in Urine

1.56

0.56

3.6

2.8

8.2

8.4

mmol/l

0.05

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

1.62

0.55

2.3

1.8

—

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

1.62

0.55

2.3

1.6

—

(3044889) 12 lead EKG panel

218

1.46

0.52

5.0

3.7

—

(40768797) Stomach Pathology biopsy report

1.62

0.51

1.3

1.2

—

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

1.54

0.50

2.1

1.7

—

(3026008) Bacteria identified in Urine by Culture

107

1.45

0.44

5.8

2.9

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

0.00

0.42

0.0

1.1

—

7.5

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.41

0.0

1.8

—

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

0.00

0.41

0.0

1.7

—

(3023351) European house dust mite IgE Ab [Units/volume] in Serum

0.00

0.41

0.0

1.1

—

4.4

—

(3002256) Pathology report gross observation

1.48

0.41

1.0

1.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

318

1.45

0.39

40.3

14.7

38.6

39.0

0.19

235

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

142

0.70

0.38

4.5

3.6

—

(1761868) Lipid panel - Serum or Plasma

0.62

0.37

1.8

2.7

—

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

1.35

0.27

2.9

2.6

1.9

3.2

mg/l

1.92

(3007164) IgA [Mass/volume] in Serum or Plasma

1.32

0.26

1.6

1.4

1.3

1.9

g/l

—

(36660697) Celiac disease serology panel - Serum

1.39

0.24

1.0

1.3

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

347

1.37

0.24

30.0

14.4

76.2

73.3

umol/l

0.23

347

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

1.35

0.24

2.2

1.7

—

(40768443) Skin Pathology biopsy report

0.00

0.21

0.0

1.2

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

7.8

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.0

—

(4034850)

0.00

0.21

0.0

21.8

—

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

1.18

0.20

2.3

1.7

—

(3013512) EKG study

0.78

0.15

5.3

3.4

—

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

1.23

0.14

3.5

3.2

—

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

1.10

0.08

1.9

1.7

—

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

1.06

0.07

1.3

1.4

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.08

0.01

4.7

3.4

—

(3015736) pH of Urine

136

0.94

0.01

3.3

3.2

—

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

244

0.96

0.00

2.6

3.1

—

(40761511) CBC panel - Blood by Automated count

362

0.97

0.00

28.1

11.3

—

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.0

1.1

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

3.4

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.5

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

0.00

0.0

1.0

—

96.8

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(3006598) pH of Arterial cord blood

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.0

5.3

—

56.4

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

0.00

0.0

5.3

—

3.8

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

3.4

—

107.4

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3021788) Differential panel - Synovial fluid

0.00

0.0

1.3

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

0.0

1.0

—

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

0.00

0.0

1.5

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.4

—

(3004959) Base excess in Arterial cord blood by calculation

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

7.8

—

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

0.00

0.0

1.3

—

60.0

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

3.4

—

3.9

—

(3044941) Cell count panel - Synovial fluid

0.00

0.0

1.4

—

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

0.00

0.0

1.3

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

2.3

—

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

0.00

0.0

1.5

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.0

—

(44813793)

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

19.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

7.3

—

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

0.00

0.0

1.0

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.0

1.3

—

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

0.00

0.0

1.1

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

3.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

152.3

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.3

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.5

—

(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

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

0.00

0.0

4.7

—

37.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_BRANCHAMINOFATAC and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_BRANCHAMINOFATAC.

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_BRANCHAMINOFATAC – Disorders of branched-chain amino-acid metabolism and 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 branched-chain amino-acid metabolism and 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