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Kwashiorkor

DOID EFO Endpoint Browser PheWeb

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)

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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

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

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

Mortality – FinRegistry

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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

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Index endpoint: E4_KWASHIORKOR – Kwashiorkor

GWS hits: -

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
FinnGen
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