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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:0100753 | Schizophrenia |
| HP:0001268 | Mental deterioration |
| HP:0002611 | Cholestatic liver disease |
| HP:0000763 | Sensory neuropathy |
| HP:0005978 | Type II diabetes mellitus |
| HP:0002076 | Migraine |
| HP:0001133 | Constriction of peripheral visual field |
| HP:0001392 | Abnormality of the liver |
| HP:0001260 | Dysarthria |
| HP:0000505 | Visual impairment |
