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
↥
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. |
504 |
4. Check minimum number of eventsNone |
504 |
5. Include endpointsNone |
504 |
6. Filter based on genotype QC (FinnGen only) |
504 |
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 | 504 | 224 | 280 |
| Unadjusted period prevalence (%) | 0.10 | 0.08 | 0.12 |
| Median age at first event (years) | 56.48 | 56.31 | 56.62 |
-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
- 451
- Matched controls
- 4511
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E83.1
ICD-10 Finland
Disorders of iron metabolism
4503599627370496.0
323.0
443
*
TPH00
NOMESCO Finland
Phlebotomy
185.1
99.8
101
7
SPAT1074
SPAT
Venesection
132.2
73.5
77
7
M14.5*E83.1
ICD-10 Finland
Arthropathy in haemochromatosis
+∞
35.9
34
*
B99
ICPC
Blood/lymph/spleen disease other
73.2
30.3
34
5
K76.0
ICD-10 Finland
Fatty (change of) liver, not elsewhere classified
15.7
29.1
48
34
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
14.0
27.3
47
37
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
4.6
20.8
77
193
TPW99
NOMESCO Finland
Other minor surgical procedure on peripheral vessel or lymphatic system
23.2
14.3
20
9
K76.9
ICD-10 Finland
Liver disease, unspecified
12.1
12.4
22
19
K74.6
ICD-10 Finland
Other and unspecified cirrhosis of liver
10.9
11.9
22
21
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
6.4
11.2
29
48
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.4
10.7
99
469
TPH00
SPAT
NA
+∞
10.5
10
*
B04
ICPC
Blood symptom/complaint
18.0
9.5
14
8
R74.0
ICD-10 Finland
Elevation of levels of transaminase and lactic acid dehydrogenase [LDH]
8.3
9.4
20
25
2750A
ICD-9 Finland
Disorders of mineral metabolism, Disorders of iron metabolism[HAEMOCHROMATOSIS]
+∞
9.4
9
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.9
9.2
183
1190
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
24.6
8.9
12
5
I85.9
ICD-10 Finland
Oesophageal varices without bleeding
14.4
8.7
14
10
M14.5
ICD-10 Finland
Arthropathies in other endocrine, nutritional and metabolic disorders
91.7
8.4
9
*
M16.1
ICD-10 Finland
Other primary coxarthrosis
2.6
7.6
55
227
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.5
7.6
61
268
B28
ICPC
Limited function/disability (B)
81.3
7.4
8
*
G47.3
ICD-10 Finland
Sleep apnoea
2.0
7.3
104
589
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
1.9
7.2
121
728
K73.80
ICD-10 Finland
Non-alcoholic fatty liver (NASH, Non Alcoholic Steatohepatitis)
30.5
7.2
9
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
3.0
6.9
39
139
TPH04
NOMESCO Finland
Cathetrisation of vein
2.0
6.7
89
491
D75.1
ICD-10 Finland
Secondary polycythaemia
22.9
6.7
9
*
TJJ00
NOMESCO Finland
Percutaneous needle biopsy of liver
22.9
6.7
9
*
R53
ICD-10 Finland
Malaise and fatigue
2.1
6.7
83
445
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
12.5
6.6
11
9
XX1XT
NOMESCO Finland
Other puncture with other radiological guidance
70.8
6.4
7
*
C22.0
ICD-10 Finland
Malignant neoplasm: Liver cell carcinoma
14.6
6.4
10
7
D83.1
ICD-10 Finland
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders
+∞
6.3
6
*
V03AC03
ATC
deferasirox; oral
+∞
6.3
6
*
E83.0
ICD-10 Finland
Disorders of copper metabolism
+∞
6.3
6
*
C83.1
ICD-10 Finland
Mantle cell lymphoma
27.1
6.2
8
*
JN1DG
NOMESCO Finland
Very extensive MRI examination of upper part of abdomen with high intensity magnet
5.3
6.1
17
33
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: 4
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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