| Symbol
| LDLR
|
| Location
| 19p13.2
|
| Name
|
hypercholesterolemia, familial |
| Other name(s)
|
LDL receptor disorder
hyperlipoproteinemia, type IIa
Heterozygous familial hypercholesterolemia
Homozygous familial hypercholesterolemia |
| Corresponding gene
|
LDLR
|
| related resource
| Hypercholesterolemia, Familial
Low Density Lipoprotein Receptor Mutation Database
|
| Other symbol(s)
| FHC, FH, HEFH, HOFH
|
| Main clinical features
|
HEFH characterized by a selective increase of LDL particles in plasma giving rise to tendon and skin xanthomas, arcus corneae and premature mortality from cardiovascular complications, a gene dosage effect and a more severe phenotype in homozygotes |
| Genetic determination
| autosomal dominant |
| Related entries
| . HOFH, caused by two defective copies of the LDLR gene and thus having lack functional low density lipoprotein receptors (LDLRs), resulting in plasma LDL concentrations elevated on average sixfold above the normal range
. characterized by early appearance of corneal arcus, cutaneous planar xanthomata over hands and extremities, tuberous xanthomata over elbows and tendinous xanthomata in the hand extensor and Achilles tendons
|
| Function/system disorder
| metabolism/lipoprotein-lipid |
| Type
| disease
|