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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
neurodegeneration with brain iron accumulation 3
Summary
- Synonym
-
- Adult basal ganglia disease
- Ferritin-related neurodegeneration
- Hereditary ferritinopathy
- NBIA3
- Neuroferritinopathy
- Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
- Definition
- A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.
- Super Class
- autosomal dominant disease neurodegeneration with brain iron accumulation
External Links
- Disease Ontology
- DOID:0110737
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60218 | Aldo-keto reductase family 1 member B10 | |
| Q6P1J6 | Phospholipase B1, membrane-associated |
