Gilbert syndrome

E4_GILBERT

Gilbert syndrome: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.

Suggest a new description

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 E80.4
  • Hospital discharge: ICD-9 2774A
  • Hospital discharge: ICD-8 27350
  • Cause of death: ICD-10 E80.4
  • Cause of death: ICD-9 2774A
  • Cause of death: ICD-8 27350

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

244

4. Check minimum number of events

None

244

5. Include endpoints

None

244

6. Filter based on genotype QC (FinnGen only)

229

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 E80
Name in latin Syndroma Gilbert

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 2080 758 1310
Only index persons 1976 732 1244
Unadjusted period prevalence (%)
Whole population 0.03 0.02 0.04
Only index persons 0.04 0.03 0.05
Median age at first event (years)
Whole population 35.03 37.47 33.51
Only index persons 34.37 36.95 32.86

-FinnGen-

Key figures

All Female Male
Number of individuals 229 98 131
Unadjusted period prevalence (%) 0.05 0.04 0.07
Median age at first event (years) 41.17 39.05 42.76

-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 E4_GILBERT and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
E4_GILBERT 1.128 [0.89, 1.43] 0.317
Birth year 0.984 [0.97, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 100 out of 970 males with E4_GILBERT died.

Mortality risk

Mortality risk for people of age

years, who have E4_GILBERT.

N-year risk Females Males
1 No data 0.198%
5 No data 1.228%
10 No data 3.072%
15 No data 5.6%
20 No data 9.732%

Relationships between endpoints

Index endpoint: E4_GILBERT – Gilbert syndrome

GWS hits: 1

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
loading spinner Loading data