Disorder "Familial hypercholesterolemia"
Found 4 records
Disorder information
Disorder name:
Familial hypercholesterolemia
Disoder ID:
OMIM entry:
Synonyms:
Fredrickson type IIa hyperlipoproteinemia, type II hyperlipidemia, hyperbetalipoproteinemia, familial hypercholesteremia, familial hyperbetalipoproteinaemia, Fredrickson type IIa lipidaemia
Definition:
A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (ldl) and early cardiovascular disease.
Modifier statisitcs
Record:
4
Gene:
3
Variant:
3
Reference:
3
Effect type:
Expressivity(4)
Modifier effect:
Risk factor(4)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PCSK9 | PCSK9:rs533273863 | Expressivity | Risk factor | P<0.05 | Variants of PCSK9 and APOE genes explain a part of the phenotypic variability.more | more |
| LDLR | LDLR:rs12710260 | Expressivity | Risk factor | 22 in 42 patients | modify hypercholesterolaemiamore | more |
| LDLR:rs12710260 | Expressivity | Risk factor | Gene activity study | modify hypercholesterolaemiamore | more | |
| APOE | APOE | Expressivity | Risk factor | Pedigree analysis | Variants of PCSK9 and APOE genes explain a part of the phenotypic variability.more | more |
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