| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 41 (10.8%) |
28771437 |
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. Yagasaki H, Nakane T, Toda T, Kobayashi K, Aoyama K, Ichikawa T, Sugita K. J Pediatr Endocrinol Metab. 2017;30(9):1007-1011. |
| Atherosclerosis | ||
| ABCG5 | ||
| p|SUB|R|389|H;RS#:119480069 | ||
| ATP Binding Cassette Transporter, Subfamily G, Mem... Anticholesteremic Agents Carotid Arteries Carotid Intima-Media Thickness Child, Preschool Echocardiography Females Homo sapiens Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Lipoproteins Mutation | ||
| 41 (10.8%) |
8529322 |
A marked and sustained reduction in LDL sterols by diet and cholestyramine in beta-sitosterolemia. Parsons HG, Jamal R, Baylis B, Dias VC, Roncari D. Clin Invest Med. 1995;18(5):389-400. |
| Angina pectoris Intermittent claudication | ||
| APOB | ||
| Adult Apolipoproteins B Cholesterol, Dietary Diet Dietary Fats Energy Intake Erythrocytes Homo sapiens Lipid Metabolism, Inborn Errors Lipoproteins Low-Density Lipoproteins Male Sterols | ||
| 43 (9.2%) |
12879952 |
A 19-year-old man with myocardial infarction and sitosterolemia. Katayama T, Katayama S, Satoh T, Yagi T, Hirose N, Kurita Y, Anzai T, Asakura Y, Yoshikawa T, Mitamura H, Ogawa S. Intern Med. 2003;42(7):591-4. |
| Myocardial infarction | ||
| Adult Age Factors Coronary Artery Disease Disease Progression Homo sapiens Lipid Metabolism, Inborn Errors Male Myocardial Infarction | ||
| 44 (5.0%) |
11123775 |
Tuberous xanthomas in sitosterolemia. Alam M, Garzon MC, Salen G, Starc TJ. Pediatr Dermatol. 2000;17(6):447-9. |
| Arthritis | ||
| Anticholesteremic Agents Child Females Homo sapiens Lipid Metabolism, Inborn Errors Skin Xanthomatosis |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 19
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0003124 | Hypercholesterolemia | 14 |
| HP:0000991 | Xanthomatosis | 11 |
| HP:0002621 | Atherosclerosis | 7 |
| HP:0040185 | Macrothrombocytopenia | 4 |
| HP:0001369 | Arthritis | 2 |
| HP:0001394 | Cirrhosis | 2 |
| HP:0002176 | Spinal cord compression | 2 |
| HP:0004446 | Stomatocytosis | 2 |
| HP:0004943 | Accelerated atherosclerosis | 2 |
| HP:0001114 | Xanthelasma | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002064 | Spastic gait | 1 |
| HP:0004416 | Precocious atherosclerosis | 1 |
| HP:0008158 | Hyperapobetalipoproteinemia | 1 |
| HP:0010550 | Paraplegia | 1 |
| HP:0010980 | Hyperlipoproteinemia | 1 |