Gilbert syndrome: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
272 |
4. Check minimum number of eventsNone |
272 |
5. Include endpointsNone |
272 |
6. Filter based on genotype QC (FinnGen only) |
272 |
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
Similar endpoints
↥List of similar endpoints to
Gilbert syndrome
based on the number of shared cases.
Similar with more cases:
- Disorders of porphyrin and bilirubin metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
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 | 272 | 113 | 159 |
| Unadjusted period prevalence (%) | 0.06 | 0.04 | 0.07 |
| Median age at first event (years) | 41.55 | 39.84 | 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
CodeWAS (R11)
↥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.
Matched cohort
- Matched cases
- 244
- Matched controls
- 2440
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.4
ICD-10 Finland
Gilbert syndrome
+∞
294.0
219
*
R17
ICD-10 Finland
Hyperbilirubinaemia, with or without jaundice, not elsewhere classified
42.4
24.6
30
8
27350
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Icterus intermittens juvenilis
+∞
16.9
16
*
2774A
ICD-9 Finland
Other and unspecified disorders of metabolism, Disorders of bilirubin excretion[SYNDROMA GILBERT]
+∞
13.7
13
*
57308
ICD-8 Finland
Other diseases of liver, Alii definiti
+∞
11.5
11
*
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.7
11.5
105
534
A06AC01
ATC
ispaghula (psylla seeds); oral
3.0
9.6
61
244
K21.9
ICD-10 Finland
Gastro-oesophageal reflux disease without oesophagitis
4.1
8.6
33
89
E80.7
ICD-10 Finland
Disorder of bilirubin metabolism, unspecified
+∞
8.4
8
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.5
8.4
74
357
Z01.8
ICD-10 Finland
Other specified special examinations
2.5
7.0
62
296
A02BC02
ATC
pantoprazole; systemic
2.0
6.2
142
1012
Mortality – FinRegistry
↥Association
Association between endpoint E4_GILBERT and mortality.
Females
No dataMales
| 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
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