Disorders of plasma-protein metabolism, not elsewhere classified

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.']

Endpoint definition

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FinnGen phenotype data

321302 individuals

Apply sex-specific rule None

321302

Check conditions None

321302

Filter registries

Hospital Discharge: ICD-10 E88.0#

Hospital discharge: ICD-9 273[8-9]

Hospital discharge: ICD-8 $!$

Cause of death: ICD-10 E88.0#

Cause of death: ICD-9 273[8-9]

Cause of death: ICD-8 $!$

616

Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10, 8, 9 ; C.O.D: 10, 8, 9

138

Check minimum number of events None

138

Include endpoints None

138

E4_PLASMAPROT

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

Similar endpoints

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List of similar endpoints to Disorders of plasma-protein metabolism, not elsewhere classified based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

Disorders of plasma-protein metabolism, not elsewhere classified, drug-induced

Show all endpoint correlations

Summary Statistics

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Key figures

	All	Female	Male
Number of individuals	134	73	61
Unadjusted prevalence (%)	0.04	0.04	0.05
Mean age at first event (years)	50.31	48.64	52.31

Mortality

Follow-up	Absolute risk	HR [95% CI]	p	N
1998–2019	-	-	-	-
15 years	-	-	-	-
5 years	-	-	-	-
1 year	-	-	-	-

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: E4_PLASMAPROT – Disorders of plasma-protein metabolism, not elsewhere classified
GWS hits: 7

Survival analyses between endpoints

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Plot

before Disorders of plasma-protein metabolism, not elsewhere classified
after Disorders of plasma-protein metabolism, not elsewhere classified

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Table

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Drugs most likely to be purchased after Disorders of plasma-protein metabolism, not elsewhere classified

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