chylomicron retention disease
Information
- Disease name
- chylomicron retention disease
- Disease ID
- DOID:0060357
- Description
- "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1." [url:https\://en.wikipedia.org/wiki/Chylomicron_retention_disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/10521380, url:https\://www.ncbi.nlm.nih.gov/pubmed/20920215, url:https\://www.ncbi.nlm.nih.gov/pubmed/3430059, url:https\://www.ncbi.nlm.nih.gov/pubmed/3792776]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05208879 | Recruiting | CArotenoid in hypoChOlesterolemia | June 30, 2022 | June 30, 2026 |
- Exact Synonym (Disease Ontology)
- Anderson disease
- Exact Synonym (Disease Ontology)
- CMRD
- Disase is a (Disease Ontology)
- DOID:3146
- Cross Reference ID (Disease Ontology)
- GARD:9683
- Cross Reference ID (Disease Ontology)
- ICD10CM:E78.3
- Cross Reference ID (Disease Ontology)
- MESH:C535460
- Cross Reference ID (Disease Ontology)
- MIM:246700
- Cross Reference ID (Disease Ontology)
- ORDO:71
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:702364003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0795956
- OrphaNumber from OrphaNet (Orphanet)
- 71