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choreaacanthocytosis
Summary
- Synonym
-
- Levine-Critchley syndrome
- choreo-acanthocytosis
- Definition
- A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
- Super Class
- autosomal recessive disease neuroacanthocytosis
External Links
- Disease Ontology
- DOID:0050766
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96RL7 | Intermembrane lipid transfer protein VPS13A |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5H8C4 | Intermembrane lipid transfer protein VPS13A |
