cholesterol ester storage disease
Information
- Disease name
- cholesterol ester storage disease
- Disease ID
- DOID:14502
- Description
- "A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen." [url:https\://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/, url:https\://www.ncbi.nlm.nih.gov/books/NBK395569/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01884220 | Completed | Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up | November 2010 | May 2014 | |
| NCT01633489 | Recruiting | Lysosomal Acid Lipase (LAL) Deficiency Registry | December 31, 2012 | June 30, 2029 | |
| NCT01716728 | Unknown status | N/A | Identification of Undiagnosed Lysosomal Acid Lipase Deficiency | August 2012 | |
| NCT01791452 | Unknown status | Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study | |||
| NCT02383641 | Withdrawn | Biomarker for Wolman Disease (BioWolman) | August 20, 2018 | February 28, 2021 |
- Disase is a (Disease Ontology)
- DOID:0080217
- Cross Reference ID (Disease Ontology)
- GARD:12099
- Cross Reference ID (Disease Ontology)
- MESH:D015217
- Cross Reference ID (Disease Ontology)
- MIM:278000
- Cross Reference ID (Disease Ontology)
- ORDO:75234
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:57218003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0008384
- Exact Synonym (Disease Ontology)
- CESD
- Exact Synonym (Disease Ontology)
- partial cholesterol ester hydrolase deficiency
- Exact Synonym (Disease Ontology)
- partial LAL deficiency
- Exact Synonym (Disease Ontology)
- partial LIPA deficiency
- Exact Synonym (Disease Ontology)
- partial lysosomal acid lipase deficiency
- MeSH unique ID (MeSH (Medical Subject Headings))
- D015217