FB2026_03 , released September 17, 2026
Human Disease Model Report: Niemann-Pick disease
Open Close
General Information
Name
Niemann-Pick disease
FlyBase ID
FBhh0000395
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes Niemann-Pick disease, which comprises a group of lipid metabolism and lysosomal storage diseases with a wide range of symptoms and variable severity. Abnormal lipid metabolism causes a buildup of harmful amounts of lipids in various organs, primarily the liver, spleen, brain, and bone marrow.

[updated Sep. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Niemann-Pick disease
OMIM report
Symptoms and phenotype

Niemann-Pick disease comprises a group of lipid metabolism and lysosomal storage diseases with a wide range of symptoms and variable severity. Abnormal lipid metabolism causes a buildup of harmful amounts of lipids in various organs, primarily the liver, spleen, brain, and bone marrow. Affected organs, symptoms, and treatments vary based on the specific sub-type. However, every type is severe and can shorten a person's life expectancy. [http://www.healthline.com/health/niemann-pick-disease; 2016.09.26]

(FlyBase Curators, 2013-)

Multiple types of Niemann-Pick disease include the classic infantile form (type A; MIM:257200), the visceral form (type B; MIM:607616), and the subacute or juvenile form (type C; MIM:257220 and MIM:607625). [from MIM:257220; 2016.09.09]

(OMIM, 2013-)
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
Search term: lipid storage disease
Search term: lysosomal storage disorder
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Niemann-Pick disease
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)