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neurodegeneration with brain iron accumulation
Summary
- Synonym
-
- NBIA
- Definition
- A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.
- Super Class
- neurodegenerative disease
External Links
- Disease Ontology
- DOID:0110734
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2720 | GLB1 | galactosidase beta 1 | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 5319 | PLA2G1B | phospholipase A2 group IB | |
| 5321 | PLA2G4A | phospholipase A2 group IVA | |
| 5631 | PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 57016 | AKR1B10 | aldo-keto reductase family 1 member B10 | |
| 151056 | PLB1 | phospholipase B1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60218 | Aldo-keto reductase family 1 member B10 | |
| P16278 | Beta-galactosidase | |
| P47712 | Cytosolic phospholipase A2 | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| P60891 | Ribose-phosphate pyrophosphokinase 1 | |
| Q6P1J6 | Phospholipase B1, membrane-associated |
