Disorder "Osteoporosis"
Found 3 records
Disorder information
Disorder name:
Osteoporosis
Disoder ID:
OMIM entry:
Definition:
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Modifier statisitcs
Record:
3
Gene:
2
Variant:
3
Reference:
2
Effect type:
Expressivity(3)
Modifier effect:
Altered onset time and severity(2)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| KL | KL:c.1054T>G(p.Phe352Val) | Expressivity | Altered onset time and severity | Combined OR=2.59, P<0.0023 | The KL-VS allele influences the trafficking and catalytic activity of klotho, and that variation in klotho function contributes to heterogeneity in the onset and severity of human age-related phenotypes.more | more |
| KL:c.1109G>C(p.Cys370Ser) | Expressivity | Altered onset time and severity | Combined OR=2.59, P<0.0023 | The KL-VS allele influences the trafficking and catalytic activity of klotho, and that variation in klotho function contributes to heterogeneity in the onset and severity of human age-related phenotypes.more | more | |
| IL1RN | IL1RN:c.T(1934)-C | Expressivity | Risk factor | OR=1.68, 95% CI: 1.01-2.77 | An 86-base pair repeat polymorphism in the IL-lra gene is associated with increased risk of osteoporotic fractures.more | more |
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