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Disorders of plasma-protein metabolism, not elsewhere classified

DOID EFO Endpoint Browser PheWeb

E4_PLASMAPROT

obsolete_alpha-1-antitrypsin deficiency: ['A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.']

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — E88.0#
  • Hospital discharge: ICD-9 — 273[8-9]
  • Cause of death: ICD-10 — E88.0#
  • Cause of death: ICD-9 — 273[8-9]

2 out of 7 registries used, show all original rules.

189

4. Check minimum number of events

None

189

5. Include endpoints

None

189

6. Filter based on genotype QC (FinnGen only)

183

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 E88
Name in latin Perturbationes metabolismi proteinorum plasmaticorum non alibi classificatae

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 1574 706 856
Only index persons 1269 601 668
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 46.52 47.95 45.18
Only index persons 46.35 47.73 45.10

-FinnGen-

Key figures

All Female Male
Number of individuals 183 96 87
Unadjusted period prevalence (%) 0.04 0.04 0.05
Median age at first event (years) 53.30 51.96 54.77

-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

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: E4_PLASMAPROT – Disorders of plasma-protein metabolism, not elsewhere classified

GWS hits: 8

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