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neurodegeneration with brain iron accumulation 4
Summary
- Synonym
-
- MPAN
- Mitochondrial Protein-Associated Neurodegeneration
- NBIA due to C19orf12 mutation
- NBIA4
- Neurodegeneration with brain iron accumulation due to C19orf12 mutation
- Neurodegeneration with brain iron accumulation type 4
- Definition
- A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.
- Super Class
- autosomal recessive disease neurodegeneration with brain iron accumulation
External Links
- Disease Ontology
- DOID:0110738
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60218 | Aldo-keto reductase family 1 member B10 | |
| Q6P1J6 | Phospholipase B1, membrane-associated |
