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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
alpha-methylacyl-CoA racemase deficiency
Summary
- Synonym
-
- AMACR deficiency
- Definition
- A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.
- Super Class
- peroxisomal disease
External Links
- Disease Ontology
- DOID:0060602
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51659 | Peroxisomal multifunctional enzyme type 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002080 | Intention tremor |
| HP:0010571 | Elevated circulating phytanic acid concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007359 | Focal-onset seizure |
| HP:0001269 | Hemiparesis |
| HP:0011462 | Young adult onset |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0001347 | Hyperreflexia |
| HP:0000510 | Rod-cone dystrophy |
| HP:0002133 | Status epilepticus |
