Disorder "Familial Combined Hyperlipidemia"
Found 22 records
Disorder information
Disorder name:
Familial Combined Hyperlipidemia
Disoder ID:
OMIM entry:
Definition:
A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES.
Modifier statisitcs
Record:
22
Gene:
2
Variant:
12
Reference:
1
Effect type:
Expressivity(22)
Modifier effect:
Risk factor(14)
,Altered level of HDL-C(2)
,Altered leverl of plasma free fatty acids(2)
,Altered onset time(2)
,Atlered level of triglycerides(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| Haplotype | Haplotype:(rs7925131,rs7942159,rs1138693,rs66460720:TTT-) | Expressivity | Atlered level of triglycerides | P=0.001 | PNPLA2 haplotypes were associated with lower risk of FCHL.more | more |
| Haplotype:(rs7925131,rs7942159,rs1138693,rs66460720:TTT-) | Expressivity | Risk factor | P=0.002 | PNPLA2 haplotypes were associated with lower risk of FCHL.more | more |