≡ Risteys
FG R12 + FR

Documentation Changelog GitHub Contact & Feedback

Other porphyria

DOID EFO Endpoint Browser PheWeb

E4_PORPHYNAS

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.']

Suggest a new description

Endpoint definition

↥

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 — E80.2#
  • Hospital discharge: ICD-9 — 2771
  • Hospital discharge: ICD-8 — 2731
  • Hospital discharge: excluded ICD-9 — 2771B
  • Hospital discharge: excluded ICD-8 — 27310
  • Cause of death: ICD-10 — E80.2#
  • Cause of death: ICD-9 — 2771
  • Cause of death: ICD-8 — 2731

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

61

4. Check minimum number of events

None

61

5. Include endpoints

None

61

6. Filter based on genotype QC (FinnGen only)

61

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
Alia porphyria

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 538 301 234
Only index persons 443 260 183
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 39.54 37.46 42.05
Only index persons 37.68 37.08 38.53

-FinnGen-

Key figures

All Female Male
Number of individuals 61 27 34
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 43.74 37.13 49.00

-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

No data

-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
56
Matched controls
561
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.2
ICD-10 Finland
Other porphyria
+∞
55.9
44
*
E80.0
ICD-10 Finland
Hereditary erythropoietic porphyria
+∞
10.8
10
*
E80.1
ICD-10 Finland
Porphyria cutanea tarda
+∞
9.6
9
*
27311
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Porphyria acuta intermittens
+∞
8.5
8
*
A11CC03
ATC
alfacalcidol; systemic
30.5
6.4
8
*

LabWAS

↥
OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
10
0
+∞
10.72
1.8
0.0
—
—
—
0
0
22
63
4.90
7.57
6.5
1.9
25.8
21.9
%
0.65
22
58
7
8
9.68
3.88
4.3
2.1
3.8
2.4
u/ml
—
7
8
16
57
3.45
3.88
1.1
1.5
—
—
—
0
0
28
142
2.80
3.70
8.9
3.6
7.4
7.4
ph
—
7
27
30
164
2.63
3.36
9.1
5.6
—
—
—
0
0
43
284
2.74
3.22
12.6
9.1
3.8
3.9
e9/l
0.14
38
255
14
59
2.78
2.51
2.6
1.5
—
—
—
0
0
15
68
2.60
2.34
2.2
1.6
—
—
—
0
0
16
75
2.54
2.34
2.9
1.7
—
—
—
0
0
11
42
2.98
2.33
1.6
2.4
365.1
395.4
nmol/l
0.13
11
37
5
10
5.33
2.11
4.4
1.8
—
—
—
0
0
31
202
2.09
2.07
15.0
7.0
1.3
1.2
inr
—
9
57
20
111
2.19
1.99
4.0
2.6
8.6
5.6
e6/l
0.33
20
101
19
105
2.18
1.91
1.8
1.5
1.3
0.9
mg/l
0.20
13
83
25
154
2.06
1.90
2.8
2.1
—
—
—
0
0
6
20
3.21
1.62
6.0
6.6
22.3
25.0
mmol/l
—
6
20
28
189
1.89
1.59
3.3
1.8
101.0
96.0
pmol/l
0.24
15
89
9
38
2.60
1.53
3.0
1.6
69.6
68.1
g/l
—
9
33
23
147
1.91
1.53
4.2
3.1
—
—
—
0
0
21
132
1.90
1.46
1.6
1.6
1.7
1.2
mmol/l
1.38
13
110
21
138
1.80
1.25
8.1
6.4
—
—
—
0
0
5
19
2.77
1.24
1.0
1.3
—
—
—
0
0
8
38
2.27
1.24
1.3
1.4
—
—
—
0
0
10
51
2.15
1.19
6.5
4.5
—
—
—
0
0
8
41
2.09
1.13
2.0
1.5
—
—
—
0
0
8
41
2.09
1.13
15.3
4.3
—
—
—
0
0
7
32
2.34
1.12
3.4
1.5
—
—
—
0
0
5
22
2.38
1.05
15.2
8.3
24.5
25.0
mmol/l
—
5
22
5
22
2.38
1.05
4.2
3.5
—
—
—
0
0
11
62
1.94
1.02
20.9
23.7
—
1.5
—
0
6
20
139
1.65
0.95
3.9
2.9
6.5
8.5
mmol/l
1.34
15
112
8
43
1.99
0.92
1.6
1.4
—
—
—
0
0
19
132
1.64
0.90
4.2
4.3
—
—
—
0
0
14
92
1.68
0.81
1.5
1.6
420.3
447.6
pmol/l
—
9
76
25
191
1.52
0.79
2.7
3.0
—
—
—
0
0
15
102
1.62
0.77
1.5
1.5
2.0
2.4
g/l
—
6
62
40
342
1.49
0.71
4.9
3.8
—
—
—
0
0
5
29
1.79
0.65
1.0
4.3
—
—
—
0
0
47
421
1.51
0.61
36.0
16.0
13.9
13.8
%
0.14
47
408
17
126
1.48
0.60
4.1
3.6
—
—
—
0
0
15
109
1.50
0.58
5.5
6.0
—
—
—
0
0
9
63
1.50
0.55
3.0
1.5
—
—
—
0
0
17
129
1.44
0.53
4.5
2.9
6.6
15.7
mg/l
1.16
12
82
54
565
0.61
0.51
39.7
19.0
138.1
137.7
g/l
0.06
54
554
54
565
0.61
0.51
39.5
18.9
91.2
90.9
fl
0.14
54
555
54
565
0.61
0.51
39.6
18.9
6.2
6.4
e9/l
0.39
54
548
54
565
0.61
0.51
39.4
18.8
30.5
30.4
pg
0.12
54
555
54
565
0.61
0.51
39.5
18.9
4.6
4.6
e12/l
0.01
54
548
54
565
0.61
0.51
39.6
18.9
223.1
241.0
e9/l
1.65
54
553
7
47
1.55
0.50
12.9
2.8
—
—
—
0
0
50
461
1.47
0.47
30.0
13.5
41.1
39.5
%
0.94
37
320
29
246
1.34
0.47
5.1
4.3
0.0
0.0
estimate
—
9
49
5
32
1.61
0.43
1.0
1.4
—
—
—
0
0
5
33
1.56
0.42
3.2
2.4
—
—
—
0
0
0
15
0.00
0.42
0.0
1.5
—
—
—
0
0
29
252
1.29
0.38
3.6
3.4
0.0
0.0
estimate
—
9
46
6
42
1.47
0.37
2.8
1.6
—
—
—
0
0
13
164
0.74
0.37
5.5
2.6
—
—
—
0
0
6
44
1.40
0.35
6.3
6.0
135.8
123.8
g/l
—
6
44
28
245
1.26
0.33
3.6
3.4
0.0
0.0
estimate
—
9
50
39
356
1.26
0.32
5.7
3.8
—
—
—
0
0
17
140
1.30
0.32
6.0
3.5
1.7
2.2
mg/mmol
—
9
83
37
336
1.26
0.32
4.7
3.9
—
21.2
—
0
9
7
56
1.28
0.30
1.6
1.4
—
—
—
0
0
11
85
1.36
0.30
3.2
1.8
—
—
—
0
0
52
537
0.79
0.27
29.4
11.5
—
—
—
0
0
21
182
1.23
0.26
6.5
3.2
14.5
42.7
ng/l
1.63
14
133
55
527
1.44
0.26
27.0
13.8
4.0
4.0
mmol/l
0.05
55
512
55
526
1.46
0.26
26.2
13.8
139.4
139.7
mmol/l
0.49
55
510
11
135
0.77
0.25
1.6
1.5
—
—
—
0
0
5
39
1.31
0.23
1.0
1.2
—
—
—
0
0
5
39
1.31
0.23
5.0
2.7
—
—
—
0
0
53
507
1.35
0.23
23.5
12.5
15.8
24.0
mg/l
1.76
44
393
5
40
1.27
0.23
2.4
1.7
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
4.8
—
9.6
—
0
10
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
7
61
1.17
0.18
1.0
1.3
—
—
—
0
0
17
150
1.18
0.17
4.1
3.2
—
—
—
0
0
55
532
1.34
0.16
25.9
14.9
105.3
75.8
umol/l
1.22
55
532
16
145
1.14
0.10
3.4
2.7
—
—
—
0
0
48
493
0.88
0.09
6.5
4.4
4.5
4.6
mmol/l
0.51
48
451
7
63
1.13
0.08
1.1
1.2
—
—
—
0
0
10
90
1.13
0.06
1.7
1.3
—
28.1
—
0
29
20
207
0.95
0.01
3.0
2.2
—
—
—
0
0
0
8
0.00
0.00
0.0
3.4
—
6.9
—
0
8
0
6
0.00
0.00
0.0
1.3
—
6.6
—
0
6
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
2.4
—
105.9
—
0
7
0
7
0.00
0.00
0.0
2.4
—
4.0
—
0
7
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
2.3
—
321.8
—
0
9
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
2.4
—
—
—
0
0
12
120
1.00
0.00
2.5
3.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.4
—
—
—
0
0
0
9
0.00
0.00
0.0
3.1
—
1.6
—
0
9
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint E4_PORPHYNAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PORPHYNAS.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

↥

Index endpoint: E4_PORPHYNAS – Other porphyria

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
loading spinner Loading data