Details of Disease

General Information of Disease (ID: DISXQRTX)

Disease Name Lysosomal lipid storage disorder
Synonyms
lipidoses; lipidosis; lipoidoses; lipoidosis; lipid storage disease; lipoid storage disorder; rare inborn error of lipid storage; inborn error of lipid storage; lipoid storage diseas; lipoid storage disease; inborn lipid storage disorder
Definition
An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
Disease Hierarchy
DISO5FAY: Inborn error of metabolism
DIS6QM6U: Lysosomal storage disease
DISEOA7S: Lipid metabolism disorder
DISXQRTX: Lysosomal lipid storage disorder
Disease Identifiers
MONDO ID
MONDO_0019245
MESH ID
D008064
UMLS CUI
C0023794
MedGen ID
9780
Orphanet ID
79204
SNOMED CT ID
10741005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 11 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FADS2 TTT2VDU Limited Biomarker [1]
NR0B2 TT25A9Q Limited Biomarker [2]
SCD TT6RIOV Limited Biomarker [1]
TAGLN TTDRZ9H Limited Biomarker [2]
FABP1 TTIV96N Strong Biomarker [3]
GALC TT5IZRB Strong Genetic Variation [4]
HPN TT25MVL Strong Biomarker [3]
LSS TT7O8ZA Strong Biomarker [3]
RAB9A TT958S6 Strong Biomarker [5]
SREBF1 TTER0UB Definitive Biomarker [6]
SREBF2 TTRQ4AP Definitive Biomarker [6]
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⏷ Show the Full List of 11 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC2A3 DT9SQ3L Strong Biomarker [3]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ASNS DEXISVQ Limited Biomarker [2]
CYP27A1 DEBS639 moderate Genetic Variation [7]
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This Disease Is Related to 15 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP1S1 OTQ2H8DN Limited Biomarker [2]
DEPP1 OTB36PHJ Limited Biomarker [2]
FNDC4 OTOQK0WK Limited Biomarker [2]
GDPD3 OTOHM9QM Limited Biomarker [2]
INHBE OTOI2NYG Limited Biomarker [2]
NUPR1 OT4FU8C0 Limited Biomarker [2]
SERPINA3 OT9BP2S0 Limited Biomarker [2]
NPC1 OTRIPICX moderate Genetic Variation [8]
ASAH1 OT1DNGXL Strong Biomarker [3]
DOK7 OTR2V7HO Strong Genetic Variation [9]
MACROH2A1 OTV2DQDD Strong Biomarker [10]
MIGA2 OT9USX0P Strong Biomarker [10]
NPC2 OTE9UEJC Strong Genetic Variation [11]
PEX2 OTKOEYRM Strong Genetic Variation [12]
RAB11A OTC4FW0J Strong Biomarker [5]
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⏷ Show the Full List of 15 DOT(s)

References

1 Phospholipidosis induced by PPARgama signaling in human bronchial epithelial (BEAS-2B) cells exposed to amiodarone. Toxicol Sci. 2011 Mar;120(1):98-108.
2 Determination of phospholipidosis potential based on gene expression analysis in HepG2 cells. Toxicol Sci. 2007 Mar;96(1):101-14.
3 Improved toxicogenomic screening for drug-induced phospholipidosis using a multiplexed quantitative gene expression ArrayPlate assay.Toxicol In Vitro. 2006 Dec;20(8):1506-13. doi: 10.1016/j.tiv.2006.05.009. Epub 2006 Jun 3.
4 Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?.Neuropediatrics. 1992 Feb;23(1):30-1. doi: 10.1055/s-2008-1071308.
5 Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells.J Clin Invest. 2002 Jun;109(12):1541-50. doi: 10.1172/JCI15420.
6 Protective effect of Chinese prescription Kangen-karyu and its crude drug Tanjin against age-related lipidosis in rats.J Pharm Pharmacol. 2007 May;59(5):687-94. doi: 10.1211/jpp.59.5.0009.
7 Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.Metab Brain Dis. 2017 Oct;32(5):1609-1618. doi: 10.1007/s11011-017-0047-8. Epub 2017 Jun 17.
8 A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis.Brain Dev. 2019 May;41(5):460-464. doi: 10.1016/j.braindev.2019.01.004. Epub 2019 Feb 6.
9 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11.
10 MacroH2A1 isoforms are associated with epigenetic markers for activation of lipogenic genes in fat-induced steatosis.FASEB J. 2015 May;29(5):1676-87. doi: 10.1096/fj.14-262717. Epub 2014 Dec 19.
11 The adult form of Niemann-Pick disease type C.Brain. 2007 Jan;130(Pt 1):120-33. doi: 10.1093/brain/awl260. Epub 2006 Sep 26.
12 The peroxisome deficient PEX2 Zellweger mouse: pathologic and biochemical correlates of lipid dysfunction.J Mol Neurosci. 2001 Apr-Jun;16(2-3):289-97; discussion 317-21. doi: 10.1385/JMN:16:2-3:289.