Dyslipidaemia
Gene: ABCG5
Well established gene-disease association. Multiple families reported.
Sitosterolemia is characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease.
Childhood onset.
Treatment: diet low in shellfish sterols and plant sterols, ezetimibe, cholestryramine.
Clinical trial: ezetimibeCreated: 20 Sep 2022, 6:35 a.m. | Last Modified: 20 Sep 2022, 6:35 a.m.
Panel Version: 0.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sitosterolaemia 2, MIM# 618666
Gene: abcg5 has been classified as Green List (High Evidence).
Phenotypes for gene: ABCG5 were changed from Sitosterolemia to Sitosterolaemia 2, MIM# 618666
Tag treatable tag was added to gene: ABCG5. Tag clinical trial tag was added to gene: ABCG5.
gene: ABCG5 was added gene: ABCG5 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCG5 were set to Sitosterolemia