hereditary hemochromatosis type 1: Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519870 |
1. Apply sex-specific ruleNone |
519870 |
2. Check conditionsNone |
519870 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
646 |
4. Check minimum number of eventsNone |
646 |
5. Include endpointsNone |
646 |
6. Filter based on genotype QC (FinnGen only) |
614 |
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
- E83
- Name in latin
- Perturbationes metabolismi ferri
Similar endpoints
↥List of similar endpoints to
Disorders of iron metabolism
based on the number of shared cases.
Similar with more cases:
- Disorders of mineral 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 | 2585 | 1043 | 1510 |
| Only index persons | 2299 | 965 | 1334 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.03 | 0.04 |
| Only index persons | 0.04 | 0.04 | 0.05 |
| Median age at first event (years) | |||
| Whole population | 55.61 | 56.88 | 54.60 |
| Only index persons | 55.33 | 56.71 | 54.33 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 614 | 293 | 321 |
| Unadjusted period prevalence (%) | 0.13 | 0.10 | 0.15 |
| Median age at first event (years) | 56.33 | 55.41 | 57.17 |
-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
↥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
- 646
- Matched controls
- 6460
TimeCodeWAS
↥TODO / Current known limitations:
- Only showing the top 500 codes, because showing all (sometimes 20k) makes the page too slow.
- Legend / how to read the glyphs.
- Proper column names.
- Show details (e.g. Fisher or Chi-square test, N cases and N controls) when clicking on a row.
- Explanation on the underlying data / how the TimeCodeWAS is done (e.g. matched cases / controls, eligibility).
- Download CSV not working.
- No filters and sorters.
- Limited amount of endpoints with TimeCodeWAS data.
- Cross-links to Risteys lab test pages for lab test codes.
E83.1 (45552418)
TPH00 (2001309596)
M14.5*E83.1 (2000503029)
SMOKING-2-3-0 (2002330113)
50373000 (4177340)
60621009 (4245997)
21697-8 (3027955)
FM1EE (2001303307)
GD1AA (2001303617)
JJ1LE (2001305253)
JN1AE (2001305517)
JN3AE (2001305555)
SPAT1074 (2001700175)
8095-2 (3007566)
1995-0 (3021347)
2064-4 (3022756)
1825-9 (3026285)
20483-4 (3034770)
OMOP4822000 (32411)
OMOP5117446 (33004)
82 (38004501)
K74.6 (45538546)
Z31.5 (45590715)
K76.0 (45601189)
60517-0 (40763571)
3034-6 (3004789)
14798-3 (3022948)
2276-4 (3001122)
10 (38004455)
30248-9 (3015399)
11 (38004456)
4679-7 (3027945)
14631-6 (3006140)
14804-9 (3022250)
OP (9202)
6768-6 (3035995)
1920-8 (3013721)
5894-1 (3033658)
74661-0 (44816559)
31017-7 (3019050)
G03BA03 (21602510)
2465-3 (3005719)
1751-7 (3024561)
19176-7 (3015916)
57782-5 (40760892)
34714-6 (3032080)
28539-5 (3035941)
20570-8 (3009542)
26464-8 (3010813)
26515-7 (3007461)
30428-7 (3024731)
26453-1 (3026361)
718-7 (3000963)
29953-7 (3037522)
30385-9 (3002385)
58410-2 (40761511)
14732-2 (3021960)
1742-6 (3006923)
58435-9 (40761536)
2458-8 (3007164)
69738-3 (42870588)
14913-8 (3017446)
29760-6 (3005772)
14338-8 (3013742)
1988-5 (3020460)
33762-6 (3029187)
14731-4 (3019309)
26485-3 (3019069)
30180-4 (3022096)
26450-7 (3006504)
26484-6 (3001604)
26474-7 (3019198)
26444-0 (3006315)
26478-8 (3002030)
715-3 (3021589)
26511-6 (3018010)
26449-9 (3013115)
2324-2 (3026910)
72160-5 (43054903)
62238-1 (40764999)
OMOP4822458 (581477)
OMOP4822461 (32036)
14682-9 (3020564)
2951-2 (3019550)
251B00000X (38004193)
4537-7 (3013707)
2823-3 (3023103)
5195-3 (3019284)
1798-8 (3016771)
2753-2 (3018418)
751-8 (3013650)
68438-1 (40771025)
2472-9 (3028026)
28540-3 (3003338)
14675-3 (3036481)
14196-0 (3023520)
6598-7 (3019800)
19072-8 (3016431)
14979-9 (3018677)
21573-1 (3003031)
R53 (45553741)
22 (8756)
29 (38004472)
2601-3 (3012095)
14920-3 (3008486)
3016-3 (3009201)
34534-8 (3044889)
6 (38004451)
14685-2 (3009035)
UJD10 (2001304788)
14771-0 (3018251)
I10 (45591453)
16128-1 (3017143)
4548-4 (3004410)
Z2221 (2001311556)
ZXE00 (2001311394)
14646-4 (3023602)
16933-4 (3021879)
14647-2 (3019900)
47210-0 (3048773)
22748-8 (3001308)
LabWAS
↥Mortality – FinRegistry
↥Association
Association between endpoint E4_IRON_MET and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_IRON_MET | 1.819 [1.37, 2.42] | < 0.001 |
| Birth year | 0.997 [0.99, 1.01] | 0.43 |
During the follow-up period (1.1.1998 — 31.12.2019), 117 out of 700 females with E4_IRON_MET died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_IRON_MET | 2.068 [1.7, 2.51] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.012 |
During the follow-up period (1.1.1998 — 31.12.2019), 233 out of 1047 males with E4_IRON_MET died.
Mortality risk
Mortality risk for people of age
years, who have E4_IRON_MET.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.185% | 0.41% |
| 5 | 1.129% | 2.443% |
| 10 | 2.835% | 6.134% |
| 15 | 5.252% | 11.96% |
| 20 | 8.954% | 19.321% |
Relationships between endpoints
↥Index endpoint: E4_IRON_MET – Disorders of iron metabolism
GWS hits: 6