Kwashiorkor

E4_KWASHIORKOR

kwashiorkor: A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)

Suggest a new description

Endpoint definition

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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 — E40 Hospital discharge: ICD-9 — 260 Hospital discharge: ICD-8 — 268 Cause of death: ICD-10 — E40 Cause of death: ICD-9 — 260 Cause of death: ICD-8 — 268 2 out of 7 registries used, show all original rules.	54
4. Check minimum number of events None	54
5. Include endpoints None	54
6. Filter based on genotype QC (FinnGen only)	54

Control definitions (FinnGen only)

Control exclude: E4_MALNUTRITION

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: E40-E46
Name in latin: Malnutritio gravis ex deficientia proteinica

NAME	E4_KWASHIORKOR
CONTROL_EXCLUDE	E4_MALNUTRITION
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E40
HD_ICD_9	260
HD_ICD_8	268
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E40
COD_ICD_9	260
COD_ICD_8	268
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 Kwashiorkor 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

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	708	362	337
Only index persons	543	277	266
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	50.60	49.94	50.91
Only index persons	39.10	35.23	43.14

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	54	27	27
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	39.44	29.30	49.58

-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

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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3019060) Gas panel - Arterial blood

4.00

3.22

3.7

4.8

—

(3003396) Base excess in Arterial blood by calculation

3.22

2.76

3.6

7.1

4.7

1.4

mmol/l

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

5.04

2.34

1.3

1.8

—

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

4.68

2.21

1.3

1.7

—

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

149

2.26

2.19

2.2

1.9

86.8

95.2

pmol/l

0.48

(3012516) Albumin [Mass/volume] in Urine

2.40

2.18

3.2

3.4

2569.9

71.4

mg/l

0.48

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

2.88

2.17

1.7

—

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

2.81

2.08

1.8

1.6

—

(3026008) Bacteria identified in Urine by Culture

116

2.15

1.81

3.6

3.3

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

3.19

1.79

1.6

1.3

—

(3020682) Albumin/Creatinine [Ratio] in Urine

101

2.17

1.76

3.8

4.2

16.7

10.6

mg/mmol

0.16

(3032080) INR in Blood by Coagulation assay

171

2.00

1.67

11.7

7.1

1.2

inr

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

3.82

1.65

2.4

2.7

—

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

3.24

1.63

5.2

5.8

—

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

2.28

1.60

2.0

1.9

—

(40768797) Stomach Pathology biopsy report

2.33

1.58

1.3

—

(3006315) Basophils [#/volume] in Blood

203

1.93

1.52

3.4

5.6

0.0

e9/l

0.25

183

(3001604) Monocytes [#/volume] in Blood

203

1.93

1.52

3.4

5.5

0.7

0.6

e9/l

1.20

180

(3007853) Bacteria identified in Skin by Aerobe culture

2.30

1.45

2.3

1.5

—

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

207

1.87

1.40

4.5

4.0

0.0

estimate

—

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

3.13

1.39

1.0

1.4

—

(3013115) Eosinophils [#/volume] in Blood

208

1.85

1.37

3.8

5.8

0.2

e9/l

0.26

190

(3019198) Lymphocytes [#/volume] in Blood

209

1.84

1.34

3.6

5.6

1.8

1.7

e9/l

0.30

191

(3031040) Bacteria [#/volume] in Urine by Automated count

259

1.84

1.30

5.5

4.4

—

7001.5

—

(3003458) Phosphate [Moles/volume] in Serum or Plasma

2.18

1.20

7.3

4.7

1.1

mmol/l

—

(3019069) Monocytes/100 leukocytes in Blood

196

1.76

1.18

3.6

5.3

9.1

8.7

0.30

187

(3004588) Protein electrophoresis panel - Serum or Plasma

2.65

1.18

5.2

3.1

—

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

2.65

1.18

2.8

1.4

—

(42870588) Differential panel, method unspecified - Blood

135

1.76

1.10

3.9

4.7

—

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

210

1.69

1.06

7.0

5.3

0.0

estimate

—

(3023368) Bacteria identified in Blood by Culture

111

1.78

1.04

6.2

4.5

—

(3002030) Lymphocytes/100 leukocytes in Blood

202

1.67

1.02

3.6

5.0

23.0

26.3

1.16

192

(3004789) Transferrin [Mass/volume] in Serum or Plasma

1.90

0.94

5.1

2.0

2.3

2.4

g/l

0.14

(3022096) Basophils/100 leukocytes in Blood

188

1.61

0.90

3.7

4.7

0.7

0.18

176

(3018010) Neutrophils/100 leukocytes in Blood

198

1.60

0.88

3.6

4.9

60.9

57.9

0.65

189

(3023520) Reticulocytes [#/volume] in Blood

2.05

0.87

1.2

3.6

69.7

71.8

e9/l

—

(3012544) pH of Venous blood

1.87

0.87

7.5

2.5

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

1.82

0.85

1.5

2.0

1.6

1.2

—

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

387

0.62

0.85

20.9

12.3

80.0

81.9

ml/min/173m2

0.17

320

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

136

1.61

0.82

3.2

31.0

31.2

u/l

0.01

129

(3024561) Albumin [Mass/volume] in Serum or Plasma

164

1.58

0.80

7.7

3.8

34.6

36.0

g/l

0.60

156

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

0.00

0.80

0.0

1.5

—

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

1.78

0.79

5.0

2.1

13.1

15.2

umol/l

0.29

(3015736) pH of Urine

168

1.52

0.71

4.3

3.7

—

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

1.72

0.70

2.0

1.9

—

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

1.68

0.68

4.1

3.7

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.86

0.68

5.6

2.7

0.5

0.8

—

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

171

1.48

0.64

5.2

4.1

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.73

0.63

5.6

2.7

0.8

1.5

—

(1002224) Polysomnography panel

0.00

0.59

0.0

1.1

—

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

1.49

0.55

1.4

1.6

—

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

1.50

0.52

3.4

2.1

2.3

3.2

mg/l

0.78

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

1.64

0.51

1.3

2.4

5.3

6.4

umol/l

—

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

1.60

0.51

2.1

2.0

—

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

1.53

0.49

12.1

9.0

—

(3041096) Erythrocytes [Presence] in Urine by Automated

132

1.42

0.48

5.5

3.0

—

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

0.63

0.47

6.0

2.2

—

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

1.49

0.47

2.8

4.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

288

1.38

0.47

6.5

4.4

—

(3009542) Hematocrit [Volume Fraction] of Blood

382

1.45

0.45

24.2

14.1

38.0

40.7

0.55

290

(4010399)

1.62

0.43

1.0

1.3

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.42

0.0

2.3

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

0.00

0.42

0.0

5.1

—

30.4

—

(3012095) Magnesium [Moles/volume] in Serum or Plasma

1.43

0.35

2.2

0.9

0.8

mmol/l

—

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

182

1.25

0.27

4.3

2.8

135.7

93.9

ug/l

0.37

169

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

145

1.25

0.24

3.6

2.8

—

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

243

1.22

0.24

5.1

10.8

4.9

4.1

e9/l

0.93

220

(40768804) Tissue Pathology biopsy report

165

0.80

0.24

2.4

2.1

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

423

0.79

0.23

24.8

13.5

22.2

21.7

mg/l

0.02

336

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.21

0.0

1.0

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.21

0.0

1.2

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.21

0.0

1.0

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.21

0.0

2.3

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.21

0.0

1.1

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

0.21

0.0

1.2

—

(40768793) Breast Pathology biopsy report

0.00

0.21

0.0

1.5

—

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

0.00

0.20

0.0

1.4

—

(40768443) Skin Pathology biopsy report

0.00

0.20

0.0

1.0

—

(3002256) Pathology report gross observation

1.20

0.20

1.0

1.2

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.20

0.20

41.7

24.7

—

1.1

—

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

1.17

0.20

2.2

1.5

—

(1761868) Lipid panel - Serum or Plasma

162

0.82

0.19

2.5

3.0

—

(40760892) CBC W Ordered Manual Differential panel - Blood

103

1.21

0.15

2.2

5.4

—

(3013512) EKG study

117

0.82

0.15

7.4

4.0

—

(3044889) 12 lead EKG panel

271

1.15

0.14

4.3

4.0

—

(36304419) Bacteria [Presence] in Urine

114

0.85

0.10

4.5

2.7

—

(3000492) Spirometry study

1.10

0.10

1.2

1.5

—

(3022145) Colonoscopy Study observation

1.07

0.10

1.8

1.4

—

(3044640) Blood type and Crossmatch panel - Blood

123

0.87

0.09

4.0

2.2

—

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

450

1.15

0.07

23.2

15.8

81.7

78.5

umol/l

0.25

450

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

182

0.90

0.07

7.8

4.5

41.4

39.4

ng/l

0.03

130

(3003338) MCHC [Mass/volume]

359

1.10

0.06

29.1

18.5

333.2

332.2

g/l

0.31

359

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

119

0.91

0.04

5.3

4.3

0.0

estimate

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

119

0.91

0.04

4.7

4.0

21.7

20.1

—

(40758558) Short blood count panel - Blood

107

0.92

0.02

5.9

7.2

—

(40761511) CBC panel - Blood by Automated count

434

1.07

0.01

23.8

13.7

—

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

186

0.95

0.00

5.3

3.9

—

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

274

1.05

0.00

3.7

3.1

—

(3021589) Normoblasts [#/volume] in Blood

171

0.99

0.00

9.0

9.6

0.0

e9/l

0.00

144

(4094501)

0.00

0.0

1.0

—

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

0.00

0.0

3.6

—

97.1

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

0.0

1.3

—

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

0.93

0.00

2.3

1.5

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.1

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.0

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.0

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

0.0

1.2

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.0

3.8

—

20.6

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

2.0

—

(4024509)

0.00

0.0

1.4

—

(3027456) Digoxin [Moles/volume] in Serum or Plasma

0.00

0.0

4.7

—

0.7

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.0

1.4

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.0

2.4

—

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

0.00

0.0

1.0

—

(3000494) Fungus identified in Specimen by Culture

0.94

0.00

2.2

1.4

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

0.0

1.4

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.0

1.3

—

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

0.00

0.0

1.5

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

2.0

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

3.4

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

4.6

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.0

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

2.0

—

(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

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

0.94

0.00

2.6

1.9

—

(3044941) Cell count panel - Synovial fluid

0.00

0.0

1.2

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

3.4

—

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

0.00

0.0

1.0

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

1.0

—

34.8

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

1.2

—

(3042936) Bacteria identified in Isolate by Culture

0.94

0.00

9.0

1.5

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_KWASHIORKOR and mortality.

Females

Parameter	HR [95% CI]	p-value
E4_KWASHIORKOR	3.646 [2.07, 6.42]	< 0.001
Birth year	0.996 [0.99, 1.0]	0.332

During the follow-up period (1.1.1998 — 31.12.2019), 72 out of 146 females with E4_KWASHIORKOR died.

Males

Parameter	HR [95% CI]	p-value
E4_KWASHIORKOR	3.065 [1.53, 6.16]	0.002
Birth year	0.987 [0.98, 1.0]	0.009

During the follow-up period (1.1.1998 — 31.12.2019), 75 out of 143 males with E4_KWASHIORKOR died.

Mortality risk

Mortality risk for people of age

years, who have E4_KWASHIORKOR.

N-year risk	Females	Males
1	0.411%	0.628%
5	2.095%	3.623%
10	4.87%	9.362%
15	9.43%	16.697%
20	16.387%	26.306%

Relationships between endpoints

↥

Index endpoint: E4_KWASHIORKOR – Kwashiorkor

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

Kwashiorkor

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