| GTO ID(s) | GTC0591 |
| Disease Name | Hypolipoproteinemia |
| Synonyms | abetalipoproteinemia, hypolipoproteinemia, tangier disease, norum disease, lack of fat in blood, lipoprotein deficiency, lecithin cholesterol acyltransferase deficiency, hypoalphalipoproteinemia, hypobetalipoproteinemia (familial), high-density lipoprotein deficiency, lipoprotein deficiencies, hypolipoproteinemia (disease), hypolipoproteinemias, hypoprebetalipoproteinemia |
| Definition | DO:A hypolipoproteinemia that is characterized by an inablility 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. |
| Xref | DO:1386 | DO:1387 | DO:1388 | DO:1391 | MESH:D007009 | GARD:8394 | HPO:HP:0010981 | ICD10:E78.6 | MONDO:0001822 | MSH:D007009 | SNOMEDCT_US_2023_03_01:363140000 | UMLS_CUI:C0020623 |
| Disease Group | Other |