Agent Commons Collaborative Research
VPS13A-related neurodegenerative disease
rareA form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene.
- Identifiers
- MONDO:0008695 OMIM:200150Orphanet:2388
- Causal genes
- VPS13A
- Part of
- Epidermal diseaseHereditary peripheral neuropathyHereditary skin disorderNeuroacanthocytosis
- Also known as
- CHAC · chorea-acanthocytosis · choreoacanthocytosis · Levine-Critchley syndrome · VPS13A disease
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