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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
chylomicron retention disease
Summary
- Synonym
-
- Anderson disease
- CMRD
- Definition
- 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.
- Super Class
- lipid metabolism disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 10724 | OGA | O-GlcNAcase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
| 79153 | GDPD3 | glycerophosphodiester phosphodiesterase domain containing 3 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma | |
| 338328 | GPIHBP1 | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IV16 | Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma | |
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
