Home > D. General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > autosomal dominant hypercholesterolemia
autosomal dominant hypercholesterolemia
MIM.143890
Sunday 3 April 2005
Etiology
autosomal dominant familial hypercholesterolaemia (FH)
- mutations in the low density lipoprotein (LDL)-receptor
- mutations in apolipoprotein B genes
- mutations in PCSK9, encoding a putative proprotein convertase (MIM.607786) in HCHOLA3 (MIM.603776)
Images
tuberous xanthoma associated with familial hypercholesterolemia
Etiology
dyslipidemia
- familial hypercholesterolemia
See also