Last updated: January 16, 2025 Introduction to Familial Chylomicronemia Syndrome (FCS) Familial chylomicronemia syndrome (FCS) represents a family of related monogenic disorders that manifest with symptoms typical of the related, polygenic disorder simply termed...
Last Updated: June 11, 2023 Introduction to SLOS Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder that was first described in 1964 by three doctors whose last names constitute the name of this syndrome. SLOS results in multiple malformations and...
Last Updated: May 7, 2024 Introduction to Familial LCAT Deficiency, FLD Familial LCAT deficiency (FLD) is a rare (incidence below 1:1,000,000) autosomal recessive disorder due to mutations in the LCAT gene (encoding lecithin:cholesterol ester transferase) that cause...
Last Updated: May 22, 2024 Introduction to the Familial Hypercholesterolemias Classic familial hypercholesterolemia, FH (type 2a hyperlipidemia) is an autosomal dominant disorder that results from mutations affecting the structure and function of the cell-surface...
Last Updated: September 15, 2022 Identification of Lp(a) Lipoprotein(a) [Lp(a)] was originally described as a new serum lipoprotein particle by Kare Berg in 1963. Lp(a) is composed of a common LDL nucleus linked to a molecule of apolipoprotein(a) [apo(a); encoded by...
Last Updated: December 14, 2022 Introduction to Tangier Disease Tangier disease (TD) is an autosomal recessive disorder resulting from defects in the ATP-binding cassette (ABC) transporter family gene, ABCA1. The disease is so named because it was originally...
Last Updated: May 23, 2024 Introduction to Angiopoietin-Like Protein 3: ANGPTL3 Angiopoietin-like protein 3 (also known as angiopoietin 5) is produced exclusively by the liver and secreted into the circulation. Prior to its release from hepatocytes, a portion of the...
Last Updated: January 10, 2024 Introduction to Abetalipoproteinemia Abetalipoproteinemia is a dyslipidemic disorder resulting from mutations in the gene (MTTP) encoding microsomal triglyceride transfer protein, MTP. There are three essential functions associated with...
Last Updated: May 7, 2024 Clinical Features of PCSK9-Mediated FHBL Familial hypobetalipoproteinemia syndrome (FHBL) is causally associated with increased hepatic fat content. The most common mutations associated with FHBL are truncating mutations in the APOB gene....
Last Updated: June 29, 2024 Clinical Features of APOB Truncation Mutations Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disorder that is most commonly due to truncating loss-of-function mutations in the APOB gene. The characteristic features of...