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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:0002573 | Hematochezia |
| HP:0001251 | Ataxia |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0000716 | Depression |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001337 | Tremor |
| HP:0000518 | Cataract |
| HP:0002354 | Memory impairment |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0001081 | Cholelithiasis |
