Niemann-Pick disease type C

rare

NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.

Identifiers: MONDO:0018982 Orphanet:646
Part of: Niemann-Pick disease Autosomal recessive disease
Also known as: Niemann Pick Disease Type C

Subtypes

All diseases Rare only

Disease	ID	Genes
Niemann-Pick disease type C, adult neurologic onset	MONDO:0016310
Niemann-Pick disease type C, juvenile neurologic onset	MONDO:0016309
Niemann-Pick disease type C, late infantile neurologic onset	MONDO:0016308
Niemann-Pick disease type C, severe early infantile neurologic onset	MONDO:0016307
Niemann-Pick disease type C, severe perinatal form	MONDO:0016306
Niemann-Pick disease, type C1	MONDO:0009757	NPC1
Niemann-Pick disease, type C2	MONDO:0011873	NPC2

Rare disease

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