| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 20 (17.0%) |
24657386 |
Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects. Hansel B, Carrie A, Brun-Druc N, Leclert G, Chantepie S, Coiffard AS, Kahn JF, Chapman MJ, Bruckert E. Atherosclerosis. 2014;234(1):162-8. |
| Vascular dilatation Hypercholesterolemia | ||
| ABCG5 ABCG8 | ||
| Adult Age Factors Atherosclerosis Females Homo sapiens Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Retrospective Studies Severity of Illness Index Young Adult | ||
| 20 (17.0%) |
24531663 |
Atherosclerotic renal artery stenosis as a cause for hypertension in an adolescent patient. Webb TN, Ramratnam M, Evans RW, Orchard T, Pacella J, Erkan E. Pediatr Nephrol. 2014;29(8):1457-60. |
| Hypertension Renal artery stenosis Hyperlipidemia | ||
| Atherosclerosis Blood Pressure Chest Pain Coronary Artery Disease Homo sapiens Hypertension, Renovascular Lipids Male Renal Artery Obstruction | ||
| 20 (17.0%) |
24423340 |
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. Park JH, Chung IH, Kim DH, Choi MH, Garg A, Yoo EG. J Clin Endocrinol Metab. 2014;99(5):1512-8. |
| Hypercholesterolemia Accelerated atherosclerosis | ||
| ABCG5 ABCG8 | ||
| c|SUB|C|1336|T;RS#:199689137 c|SUB|G|904+1|A;RS#:753502791 p|FS|M|302|N|82;RS#:753502791 p|SUB|R|446|*;RS#:199689137 rs199689137 | ||
| ATP Binding Cassette Transporter, Subfamily G, Mem... ATP-Binding Cassette Transporters Fat-Restricted Diet Females Homo sapiens Hypercholesterolemia Infant Intestinal Diseases Juvenile Xanthogranuloma Lipid Metabolism, Inborn Errors Lipoproteins | ||
| 20 (17.0%) |
20543520 |
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. Tsubakio-Yamamoto K, Nishida M, Nakagawa-Toyama Y, Masuda D, Ohama T, Yamashita S. J Atheroscler Thromb. 2010;17(9):891-900. |
| Atherosclerosis Hypercholesterolemia | ||
| ABCG5 ABCG8 NPC1L1 | ||
| ATP Binding Cassette Transporter, Subfamily G, Mem... ATP-Binding Cassette Transporters Anticholesteremic Agents Azetidines Bile Acids and Salts Biological Models Cardiovascular Diseases Females Homo sapiens Hydroxymethylglutaryl-CoA Reductase Inhibitors Ion Exchange Resins Lipid Metabolism, Inborn Errors Lipoproteins Male Missense Mutation Young Adult | ||
| 20 (17.0%) |
19111681 |
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. Togo M, Hashimoto Y, Iso-O N, Kurano M, Hara M, Kadowaki T, Koike K, Tsukamoto K. Clin Chim Acta. 2009;401(1-2):165-9. |
| Atherosclerosis Hypercholesterolemia | ||
| ABCG5 ABCG8 | ||
| p|SUB|R|446|X;RS#:199689137 | ||
| ATP Binding Cassette Transporter, Subfamily G, Mem... ATP Binding Cassette Transporter, Subfamily G, Mem... ATP-Binding Cassette Transporters Adult Atherosclerosis Exons Females Homo sapiens Hypercholesterolemia Lipoproteins Middle Aged Mutation | ||
| 26 (13.1%) |
16331855 |
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. Connor WE, Lin DS, Pappu AS, Frohlich J, Gerhard G. Lipids. 2005;40(9):919-23. |
| Xanthomatosis | ||
| Animals Diet Females Homo sapiens Inborn Errors of Metabolism Male Middle Aged Rats, Wistar Rattus Xanthomatosis | ||
| 26 (13.1%) |
2325562 |
Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function. Nguyen LB, Salen G, Shefer S, Tint GS, Shore V, Ness GC. Metabolism. 1990;39(4):436-43. |
| Xanthomatosis | ||
| Adult Females Homo sapiens Kinetics Leukocytes Lipid Metabolism, Inborn Errors Low Density Lipoprotein Receptor Male Microsomes Middle Aged Molecular Weight Monocytes Normal Range Sterols Xanthomatosis | ||
| 26 (13.1%) |
2279360 |
[A case of sitosterolemia with spastic gait due to intradural-extramedullary xanthoma]. Yasuda H, Hatanaka I, Hidaka H, Okabe H, Shigeta Y. Rinsho Shinkeigaku. 1990;30(10):1095-8. |
| Urinary incontinence Xanthomatosis | ||
| Females Gait Granuloma Homo sapiens Middle Aged Movement Disorders Spinal Cord Diseases Urinary Incontinence Xanthomatosis | ||
| 26 (13.1%) |
2241122 |
Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia. Hatanaka I, Yasuda H, Hidaka H, Harada N, Kobayashi M, Okabe H, Matsumoto K, Hukuda S, Shigeta Y. Ann Neurol. 1990;28(3):390-3. |
| Xanthomatosis | ||
| Females Homo sapiens Magnetic Resonance Imaging Middle Aged Paraplegia X-Ray Computed Tomography Xanthomatosis | ||
| 26 (13.1%) |
1576118 |
Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia. Salen G, Tint GS, Shefer S, Shore V, Nguyen L. Arterioscler Thromb. 1992;12(5):563-8. |
| Xanthomatosis | ||
| APOB | ||
| Adult Apolipoproteins Females Heterozygote Homo sapiens Homozygote Osmolarity Sterols Time Factors |
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 |