Details of Disease | DrugMAP

General Information of Disease (ID: DISVJCFK)

Disease Name	Niemann-Pick disease type B
Synonyms	Niemann-Pick disease, type E; Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression; Niemann-Pick disease, type F; Niemann-PICK disease, type B; Niemann Pick disease type B; type B Niemann-Pick disease
Definition	Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DISCPWH9: Autosomal recessive disease DIS7FXIH: Interstitial lung disease specific to childhood DISD9N88: Acid sphingomyelinase deficiency DISVJCFK: Niemann-Pick disease type B
Disease Identifiers	MONDO ID MONDO_0011871 MESH ID D052537 UMLS CUI C0268243 OMIM ID 607616 MedGen ID 78651 Orphanet ID 77293 SNOMED CT ID 39390005

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
SMPD1	TTJTM88	Strong	Autosomal recessive	[1]
SMPD1	TTJTM88	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GULP1	OT1WMVDH	moderate	Biomarker	[3]
NPB	OT0U82T3	moderate	Genetic Variation	[4]
SMPD1	OTZSMA54	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene.Stem Cell Res. 2019 May;37:101436. doi: 10.1016/j.scr.2019.101436. Epub 2019 Apr 12.
3	Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP.J Clin Lipidol. 2013 Mar-Apr;7(2):153-64. doi: 10.1016/j.jacl.2012.02.006. Epub 2012 Feb 22.
4	Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?.J Inherit Metab Dis. 2006 Aug;29(4):591. doi: 10.1007/s10545-006-0330-z. Epub 2006 Jun 26.