Nezelof syndrome

D3_NEFELOF

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 D81.4
  • Cause of death: ICD-10 D81.4

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

143

4. Check minimum number of events

None

143

5. Include endpoints

None

143

6. Filter based on genotype QC (FinnGen only)

141

Control definitions (FinnGen only)

Control exclude D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D81
Name in latin Syndroma Nezelof

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1192 627 560
Only index persons 1015 541 474
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 57.80 56.96 58.61
Only index persons 56.18 55.27 57.21

-FinnGen-

Key figures

All Female Male
Number of individuals 141 82 59
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 55.44 51.65 60.72

-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

No data

Mortality – FinRegistry

Association

Association between endpoint D3_NEFELOF and mortality.

Females

Parameter HR [95% CI] p-value
D3_NEFELOF 2.605 [2.14, 3.17] < 0.001
Birth year 0.995 [0.99, 1.0] 0.251

During the follow-up period (1.1.1998 — 31.12.2019), 196 out of 545 females with D3_NEFELOF died.

Males

Parameter HR [95% CI] p-value
D3_NEFELOF 2.144 [1.72, 2.67] < 0.001
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 232 out of 494 males with D3_NEFELOF died.

Mortality risk

Mortality risk for people of age

years, who have D3_NEFELOF.

N-year risk Females Males
1 0.214% 0.381%
5 1.519% 2.293%
10 3.579% 5.701%
15 7.055% 11.045%
20 12.424% 18.225%

Relationships between endpoints

Index endpoint: D3_NEFELOF – Nezelof syndrome

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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