Neuroacanthocytosis

rare

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.

Identifiers: MONDO:0016987 Orphanet:263440
Part of: Huntington disease-like syndrome Movement disorder
Also known as: neuroacanthocytosis syndrome

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
VPS13A-related neurodegenerative disease	MONDO:0008695		VPS13A
XK-related neurodegenerative disease	MONDO:0018945		XK

Rare disease

Projects

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