Details of Disease | DrugMAP

General Information of Disease (ID: DISK3V8S)

Disease Name	Niemann-Pick disease type C, severe early infantile neurologic onset
Disease Hierarchy	DIS492ZO: Niemann-Pick disease type C DISK3V8S: Niemann-Pick disease type C, severe early infantile neurologic onset
Disease Identifiers	MONDO ID MONDO_0016307 UMLS CUI C5680868 MedGen ID 1842400 Orphanet ID 216975

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NPC1	OTRIPICX	Supportive	Autosomal recessive	[1]
NPC2	OTE9UEJC	Supportive	Autosomal recessive	[1]
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References

1	Niemann-Pick Disease Type C. 2000 Jan 26 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.