Details of Disease

General Information of Disease (ID: DISLYVZZ)

• Disease Name: Niemann-Pick disease, type C2
• Synonyms: Niemann-Pick disease type C2; Niemann-PICK disease, type C2; NPC2; Niemann-Pick disease, type C2; type C2 Niemann-Pick disease
• Definition: Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.
• Disease Hierarchy:
  DIS492ZO: Niemann-Pick disease type C
  DISLYVZZ: Niemann-Pick disease, type C2
• Disease Identifiers:
  MONDO ID: MONDO_0011873
  UMLS CUI: C1843366
  OMIM ID: 607625
  MedGen ID: 335942

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEGR1	OT57ECW9	moderate	Biomarker	[1]
DKC1	OTX7DJR6	Strong	Genetic Variation	[2]
NPC1	OTRIPICX	Strong	Biomarker	[3]
NPC2	OTE9UEJC	Definitive	Autosomal recessive	[4]

References

• [1] The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking.Biochem Biophys Res Commun. 2017 Jan 22;482(4):1367-1374. doi: 10.1016/j.bbrc.2016.12.043. Epub 2016 Dec 9.
• [2] Expression analysis of genes identified by molecular profiling of VGP melanomas and MGP melanoma-positive lymph nodes.Cancer Biol Ther. 2004 Jan;3(1):110-20. doi: 10.4161/cbt.3.1.662. Epub 2004 Jan 24.
• [3] 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.
• [4] 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.