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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mevalonic aciduria
Summary
- Synonym
-
- Mevalonate Kinase Deficiency
- Definition
- A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
- Super Class
- peroxisomal disease
External Links
- Disease Ontology
- DOID:0050452
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 412 | STS | steroid sulfatase | |
| 1118 | CHIT1 | chitinase 1 | |
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2222 | FDFT1 | farnesyl-diphosphate farnesyltransferase 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2739 | GLO1 | glyoxalase I | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 3958 | LGALS3 | galectin 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P06280 | Alpha-galactosidase A | |
| P07203 | Glutathione peroxidase 1 | |
| P08842 | Steryl-sulfatase | |
| P12821 | Angiotensin-converting enzyme | |
| P16442 | Histo-blood group ABO system transferase | |
| P17931 | Galectin-3 | |
| P37268 | Squalene synthase | |
| P48736 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform | |
| P61626 | Lysozyme C |
