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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 |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5320 | PLA2G2A | phospholipase A2 group IIA | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| 7941 | PLA2G7 | phospholipase A2 group VII | |
| 8399 | PLA2G10 | phospholipase A2 group X | |
| 8809 | IL18R1 | interleukin 18 receptor 1 |
Related Glycoprotein
