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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 |
|---|---|---|---|
| 6441 | SFTPD | surfactant protein D | |
| 6476 | SI | sucrase-isomaltase | |
| 6515 | SLC2A3 | solute carrier family 2 member 3 | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
| 7369 | UMOD | uromodulin | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 8694 | DGAT1 | diacylglycerol O-acyltransferase 1 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9415 | FADS2 | fatty acid desaturase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00462 | Beta-mannosidase | |
| O00767 | Stearoyl-CoA desaturase | |
| O43451 | Maltase-glucoamylase | |
| O60502 | Protein O-GlcNAcase | |
| O95864 | Acyl-CoA 6-desaturase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P04180 | Phosphatidylcholine-sterol acyltransferase | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06280 | Alpha-galactosidase A | |
| P06858 | Lipoprotein lipase |
