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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 |
|---|---|---|---|
| 3958 | LGALS3 | galectin 3 | |
| 4023 | LPL | lipoprotein lipase | |
| 4047 | LSS | lanosterol synthase | |
| 4126 | MANBA | mannosidase beta | |
| 4668 | NAGA | alpha-N-acetylgalactosaminidase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5476 | CTSA | cathepsin A | |
| 5730 | PTGDS | prostaglandin D2 synthase | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 6401 | SELE | selectin E |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35475 | Alpha-L-iduronidase | |
| P35575 | Glucose-6-phosphatase catalytic subunit 1 | |
| P41222 | Prostaglandin-H2 D-isomerase | |
| P48449 | Lanosterol synthase | |
| P54803 | Galactocerebrosidase | |
| Q04446 | 1,4-alpha-glucan-branching enzyme | |
| Q13231 | Chitotriosidase-1 | |
| Q13510 | Acid ceramidase | |
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q7L5L3 | Lysophospholipase D GDPD3 |
