abetalipoproteinemia
Information
- Disease name
- abetalipoproteinemia
- Disease ID
- DOID:1386
- Description
- "A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS." [url:http\://en.wikipedia.org/wiki/Abetalipoproteinemia, url:http\://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00004574 | Completed | Vitamin Replacement in Abetalipoproteinemia | February 2000 | May 2001 | |
| NCT05208879 | Recruiting | CArotenoid in hypoChOlesterolemia | June 30, 2022 | June 30, 2026 |
- Disase is a (Disease Ontology)
- DOID:1387
- Cross Reference ID (Disease Ontology)
- GARD:5
- Cross Reference ID (Disease Ontology)
- ICD10CM:E78.6
- Cross Reference ID (Disease Ontology)
- MESH:D000012
- Cross Reference ID (Disease Ontology)
- MIM:200100
- Cross Reference ID (Disease Ontology)
- NCI:C84525
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:83123000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0000744
- Exact Synonym (Disease Ontology)
- familial hypobetalipoproteinemia
- Exact Synonym (Disease Ontology)
- microsomal triglyceride transfer protein deficiency disease
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0008181
- OrphaNumber from OrphaNet (Orphanet)
- 14
- MeSH unique ID (MeSH (Medical Subject Headings))
- D000012