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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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1946 | EFNA5 | ephrin A5 | |
| 2822 | GPLD1 | glycosylphosphatidylinositol specific phospholipase D1 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3290 | HSD11B1 | hydroxysteroid 11-beta dehydrogenase 1 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase | |
| 3956 | LGALS1 | galectin 1 | |
| 4023 | LPL | lipoprotein lipase | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
Related Glycoprotein
