choreaacanthocytosis

Term ID

DOID:0050766

Synonyms

• choreo-acanthocytosis
• Levine-Critchley syndrome

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. (3)

References

• GARD:3956
• MESH:D054546
• MIM:200150
• NCI:C84926
• ORDO:2388
• SNOMEDCT_US_2023_03_01:26848004
• UMLS_CUI:C0393576

Ontology

Human Disease   ( DOID:0050766 )