Niemann-Pick disease type C1

A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.

Signs and symptoms

• Gait ataxia
• Low cholesterol esterification rate
• Intellectual disability
• Sea-blue histiocytosis
• Seizure
• Hepatomegaly
• Foam cells
• Dystonia
• Unesterified cholesterol accumulation in cultured fibroblasts
• Fetal ascites

Also known as: NPC1