hypoparathyroidism: Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism , metabolic alkalosis , DiGeorge syndrome , and type I polyglandular autoimmune syndrome . The goal of treatment is to restore the calcium and mineral balance in the body.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
4376 |
4. Check minimum number of eventsNone |
4376 |
5. Include endpoints |
7887 |
6. Filter based on genotype QC (FinnGen only) |
7615 |
Control definitions (FinnGen only)
Control exclude
E4_ENDOGLAND
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to
Disorders of parathyroid gland
based on the number of shared cases.
Similar with more cases:
- Disorders of other endocrine glands
- 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 | 80005 | 64540 | 14708 |
| Only index persons | 60923 | 49657 | 11266 |
| Unadjusted period prevalence (%) | |||
| Whole population | 1.57 | 1.85 | 0.41 |
| Only index persons | 1.57 | 1.83 | 0.43 |
| Median age at first event (years) | |||
| Whole population | 71.74 | 72.51 | 68.31 |
| Only index persons | 70.01 | 70.86 | 66.26 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 7615 | 5631 | 1984 |
| Unadjusted period prevalence (%) | 1.89 | 2.21 | 1.00 |
| Median age at first event (years) | 64.24 | 63.66 | 65.87 |
-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
Mortality – FinRegistry
↥Association
Association between endpoint E4_PARATHYRO and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PARATHYRO | 1.376 [1.29, 1.47] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.149 |
During the follow-up period (1.1.1998 — 31.12.2019), 24395 out of 46854 females with E4_PARATHYRO died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PARATHYRO | 1.776 [1.62, 1.95] | < 0.001 |
| Birth year | 0.984 [0.97, 0.99] | 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 5993 out of 11446 males with E4_PARATHYRO died.
Mortality risk
Mortality risk for people of age
years, who have E4_PARATHYRO.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.139% | 0.266% |
| 5 | 0.651% | 1.983% |
| 10 | 1.627% | 4.697% |
| 15 | 3.288% | 8.708% |
| 20 | 6.037% | 14.708% |
Relationships between endpoints
↥Index endpoint: E4_PARATHYRO – Disorders of parathyroid gland
GWS hits: 9
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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