Details of Disease

Disease Name

Niemann-Pick disease, type C1

Niemann-Pick disease, chronic neuronopathic form; Niemann-Pick disease, type C; Niemann-Pick disease, subacute juvenile form; neurovisceral storage disease with vertical supranuclear ophthalmoplegia; Niemann-Pick disease without sphingomyelinase deficiency; NPC1; Niemann-Pick disease, nova Scotian type; Niemann-Pick disease with cholesterol esterification block; Niemann-PICK disease, type C1; Niemann-Pick disease type C1; Niemann-Pick disease, type D; type C1 Niemann-Pick disease; Niemann-Pick disease, type C1

Definition

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.

Disease Hierarchy

DIS492ZO: Niemann-Pick disease type C

DIS9HUE3: Niemann-Pick disease, type C1

Disease Identifiers

MONDO ID

MONDO_0009757

MESH ID

D052556

UMLS CUI

C3179455

OMIM ID

257220

MedGen ID

465922

General Information of Disease (ID: DIS9HUE3)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNQ2	TTPXI3S	Strong	Biomarker	[1]
LIPA	TTS8T1M	Strong	Therapeutic	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GNPDA2	DEPJGQB	Strong	Biomarker	[3]
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This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPNS1	OTSJ3BJ2	moderate	Altered Expression	[4]
EARS2	OTNCJKY7	Strong	Biomarker	[5]
FAIM2	OT6QINVO	Strong	Biomarker	[3]
GPC1	OTQKRSSV	Strong	Biomarker	[6]
HERPUD1	OT9EROL6	Strong	Biomarker	[7]
MTCH2	OTV3E4GU	Strong	Biomarker	[3]
NEGR1	OT57ECW9	Strong	Genetic Variation	[3]
NPC2	OTE9UEJC	Strong	Genetic Variation	[8]
SEC16B	OT244C1N	Strong	Biomarker	[3]
SH2B1	OTJZO2CI	Strong	Biomarker	[3]
SPTBN2	OTDMJ75N	Strong	Altered Expression	[9]
NPC1	OTRIPICX	Definitive	Autosomal recessive	[10]
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⏷ Show the Full List of 12 DOT(s)

References

1	Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P(2) That Regulates Neuronal Excitability.Cell Rep. 2019 May 28;27(9):2636-2648.e4. doi: 10.1016/j.celrep.2019.04.099.
2	Thiadiazole carbamates: potent inhibitors of lysosomal acid lipase and potential Niemann-Pick type C disease therapeutics.J Med Chem. 2010 Jul 22;53(14):5281-9. doi: 10.1021/jm100499s.
3	Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population.J Hum Genet. 2009 Dec;54(12):727-31. doi: 10.1038/jhg.2009.106. Epub 2009 Oct 23.
4	L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease.Sci Rep. 2017 Nov 21;7(1):15944. doi: 10.1038/s41598-017-15305-9.
5	Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors.Mol Cell Neurosci. 2017 Sep;83:27-36. doi: 10.1016/j.mcn.2017.06.007. Epub 2017 Jun 27.
6	Defective nitric oxide-dependent, deaminative cleavage of glypican-1 heparan sulfate in Niemann-Pick C1 fibroblasts.Glycobiology. 2006 Aug;16(8):711-8. doi: 10.1093/glycob/cwj121. Epub 2006 Apr 27.
7	Niemann-Pick disease type C1(NPC1) is involved in resistance against imatinib in the imatinib-resistant Ph+ acute lymphoblastic leukemia cell line SUP-B15/RI.Leuk Res. 2016 Mar;42:59-67. doi: 10.1016/j.leukres.2016.01.007. Epub 2016 Jan 16.
8	Quantitative Analysis of the Proteome Response to the Histone Deacetylase Inhibitor (HDACi) Vorinostat in Niemann-Pick Type C1 disease.Mol Cell Proteomics. 2017 Nov;16(11):1938-1957. doi: 10.1074/mcp.M116.064949. Epub 2017 Aug 31.
9	Impact of Reduced Cerebellar EAAT Expression on Purkinje Cell Firing Pattern of NPC1-deficient Mice.Sci Rep. 2018 Feb 20;8(1):3318. doi: 10.1038/s41598-018-21805-z.
10	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.