Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|
| 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 |
