Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
2p21
Sitosterolemia is a rare metabolic disorder in which unrestricted intestinal absorption of plant sterols and cholesterol results in the increased plasma concentration of these lipids. The condition causes tendon and tuberous xanthomas, premature atherosclerosis leading to coronary artery disease and in some individuals, hemolytic anemia.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 210250.1.1 | Tunisia | Male | Yes | No | Xanthomatosis Xanthomatosis  | NM_022437.3:c.965-1G>C | Homozygous | Autosomal, Recessive | Bardawil et al, 2017 | Proband. The homoz... |
| 210250.1.2 | Tunisia | Female | Yes | No | Xanthomatosis Xanthomatosis | NM_022437.3:c.965-1G>C | Homozygous | Autosomal, Recessive | Bardawil et al, 2017 | Sister of 210250.1.1... |
| 210250.1.3 | Tunisia | Male | Yes | Xanthelasma Xanthelasma | NM_022437.3:c.965-1G>C | Heterozygous | Autosomal, Recessive | Bardawil et al, 2017 | Father of 210250.1.1... | |
| 210250.1.4 | Tunisia | Female | Yes | Xanthelasma Xanthelasma | NM_022437.3:c.965-1G>C | Heterozygous | Autosomal, Recessive | Bardawil et al, 2017 | Mother of 210250.1.1... | |
| 210250.1.5 | Tunisia | Female | Yes | Xanthelasma Xanthelasma | NM_022437.3:c.965-1G>C | Heterozygous | Autosomal, Recessive | Bardawil et al, 2017 | Paternal aunt of 210... |