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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 |
|---|---|---|
| P07911 | Uromodulin | |
| P08236 | Beta-glucuronidase | |
| P10253 | Lysosomal alpha-glucosidase | |
| P10619 | Lysosomal protective protein | |
| P11169 | Solute carrier family 2, facilitated glucose transporter member 3 | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P15289 | Arylsulfatase A | |
| P15848 | Arylsulfatase B | |
| P16278 | Beta-galactosidase |
