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autosomal recessive hypercholesterolemia
Pathology:
1) defective internalization of LDL receptors (LDLR) in the liver
2) tuberous & tendon xanthomata
3) premature atherosclerosis
4) LDL receptor (LDLR) activity measured in skin fibroblasts is normal
5) LDL binding ability is normal
Genetics:
- associated with defect in LDLRAP1 gene
Laboratory:
- severely elevated plasma LDL cholesterol
General
hypercholesterolemia
hyperlipoproteinemia type 2 (familial hypercholesterolemia)
Database Correlations
OMIM 603813
References
OMIM :accession 603813