sitosterolemia
Information
- Disease name
- sitosterolemia
- Disease ID
- DOID:0090019
- Description
- "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11099417, url:https\://www.ncbi.nlm.nih.gov/pubmed/11138003]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00004481 | Completed | Genetic Study of Sitosterolemia | November 1999 | ||
| NCT00531128 | Completed | N/A | The Effect of Dietary Sitosterol on Blood Sugar and Cholesterol | September 10, 2007 | May 17, 2018 |
| NCT01584206 | Completed | N/A | Sitosterolemia Metabolism | April 2012 | December 2016 |
| NCT01948648 | Unknown status | N/A | Effects of Fish Oil and Colesevelam (STAIR7007) | February 6, 2018 | July 30, 2021 |
- Disase is a (Disease Ontology)
- DOID:5295
- Cross Reference ID (Disease Ontology)
- GARD:7653
- Cross Reference ID (Disease Ontology)
- MESH:C537345
- Cross Reference ID (Disease Ontology)
- MIM:210250
- Cross Reference ID (Disease Ontology)
- NCI:C125694
- Cross Reference ID (Disease Ontology)
- ORDO:2882
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:238104009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0342907
- Exact Synonym (Disease Ontology)
- phytosterolemia
- OrphaNumber from OrphaNet (Orphanet)
- 2882