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Hypercholesterolemia, familial, 4
rareAn autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.
- Identifiers
- MONDO:0011374 OMIM:603813
- Causal genes
- LDLRAP1
- Part of
- Familial hypercholesterolemia
- Also known as
- ARH · FHCB1 · FHCB2 · hypercholesterolemia, autosomal recessive · hypercholesterolemia, autosomal recessive, 1
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