obsolete_porphyria: ['A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.']
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. |
382 |
4. Check minimum number of eventsNone |
382 |
5. Include endpoints |
420 |
6. Filter based on genotype QC (FinnGen only) |
420 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- E70-E90
- Name in latin
- Perturbationes metabolismi porphyrini et bilirubini
Similar endpoints
↥List of similar endpoints to
Disorders of porphyrin and bilirubin metabolism
based on the number of shared cases.
Similar with more cases:
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3518 | 1459 | 2032 |
| Only index persons | 3166 | 1332 | 1834 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.04 | 0.06 |
| Only index persons | 0.06 | 0.05 | 0.07 |
| Median age at first event (years) | |||
| Whole population | 38.30 | 39.37 | 37.32 |
| Only index persons | 37.26 | 39.00 | 36.00 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 420 | 182 | 238 |
| Unadjusted period prevalence (%) | 0.09 | 0.06 | 0.10 |
| Median age at first event (years) | 44.48 | 42.31 | 46.14 |
-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
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
- 374
- Matched controls
- 3740
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.4
ICD-10 Finland
Gilbert syndrome
+∞
262.5
220
*
E80.2
ICD-10 Finland
Other porphyria
+∞
46.9
44
*
E80.1
ICD-10 Finland
Porphyria cutanea tarda
+∞
31.7
30
*
E80.7
ICD-10 Finland
Disorder of bilirubin metabolism, unspecified
+∞
28.5
27
*
E80.0
ICD-10 Finland
Hereditary erythropoietic porphyria
+∞
26.4
25
*
R17
ICD-10 Finland
Hyperbilirubinaemia, with or without jaundice, not elsewhere classified
20.0
22.2
33
18
27350
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Icterus intermittens juvenilis
+∞
16.8
16
*
E80.6
ICD-10 Finland
Other disorders of bilirubin metabolism
+∞
16.8
16
*
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.6
15.6
156
813
2774A
ICD-9 Finland
Other and unspecified disorders of metabolism, Disorders of bilirubin excretion[SYNDROMA GILBERT]
+∞
13.6
13
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.5
12.3
119
592
57308
ICD-8 Finland
Other diseases of liver, Alii definiti
123.6
11.5
12
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.5
10.2
48
150
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.9
9.7
62
239
K21.9
ICD-10 Finland
Gastro-oesophageal reflux disease without oesophagitis
3.4
9.1
44
141
Z01.8
ICD-10 Finland
Other specified special examinations
2.3
9.0
90
447
UJF32
NOMESCO Finland
Coloscopy
2.2
8.7
96
499
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
28.2
8.5
11
*
27311
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Porphyria acuta intermittens
+∞
8.4
8
*
E87.6
ICD-10 Finland
Hypokalaemia
22.6
8.1
11
5
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.2
7.2
78
397
C10AC01
ATC
colestyramine; oral
6.8
7.2
17
26
A06AC01
ATC
ispaghula (psylla seeds); oral
2.1
7.2
89
482
R07.4
ICD-10 Finland
Chest pain, unspecified
2.1
7.2
91
500
FN1AD
NOMESCO Finland
CT of coronary arteries
11.2
6.8
12
11
R01AD12
ATC
fluticasone furoate; nasal
1.9
6.7
108
648
A02BC02
ATC
pantoprazole; systemic
1.8
6.5
220
1678
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
2.9
6.4
38
142
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.8
6.3
143
960
Mortality – FinRegistry
↥Association
Association between endpoint E4_PORBILIR and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PORBILIR | 1.937 [1.55, 2.43] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.166 |
During the follow-up period (1.1.1998 — 31.12.2019), 140 out of 1058 females with E4_PORBILIR died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PORBILIR | 1.442 [1.18, 1.76] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.113 |
During the follow-up period (1.1.1998 — 31.12.2019), 232 out of 1474 males with E4_PORBILIR died.
Mortality risk
Mortality risk for people of age
years, who have E4_PORBILIR.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.134% | 0.283% |
| 5 | 1.176% | 1.95% |
| 10 | 2.932% | 4.595% |
| 15 | 5.514% | 8.699% |
| 20 | 9.052% | 14.938% |
Relationships between endpoints
↥Index endpoint: E4_PORBILIR – Disorders of porphyrin and bilirubin metabolism
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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