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neuroacanthocytosis

Disease Summary
Associated Targets (6)
Tbio

6


GARD Rare
Mondo Description Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.
Disease Ontology Description A neurodegenerative disease that is characterized by acanthocytosis, chorea, progressive cognitive impairment, muscle weakness and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
Mondo Term and Equivalent IDs
MONDO:0016987:  neuroacanthocytosis
GARD:0010902: 
NCIT:C84926: 
Orphanet:263440: