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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.']

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Endpoint definition

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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 — E80.2#
  • 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.

56

4. Check minimum number of events

None

56

5. Include endpoints

None

56

6. Filter based on genotype QC (FinnGen only)

53

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

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-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 53 23 30
Unadjusted period prevalence (%) 0.01 0.01 0.02
Median age at first event (years) 43.75 37.13 48.83

-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

Mortality – FinRegistry

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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

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Index endpoint: E4_PORPHYNAS – Other porphyria

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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