MCID: LPD009
MIFTS: 42

Lipid Storage Disease malady

Summaries for Lipid Storage Disease

Sources:
8Disease Ontology, 44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.

MalaCards: Lipid Storage Disease, also known as lipoidosis, is related to neutral lipid storage disease and gaucher's disease. An important gene associated with Lipid Storage Disease is PNPLA2 (patatin-like phospholipase domain containing 2), and among its related pathways are CDP-diacylglycerol biosynthesis I and Lipoprotein metabolism. The compounds 4-methylumbelliferyl-beta-d-glucoside and psychosine have been mentioned in the context of this disorder. Related mouse phenotypes are adipose tissue and muscle.

Disease Ontology:8 A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.

Wikipedia:64 Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful... more...

Aliases & Classifications for Lipid Storage Disease

Sources:
8Disease Ontology, 61UMLS, 44NINDS, 57SNOMED-CT, 35MeSH, 27ICD9CM
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Aliases & Descriptions:

lipid storage disease 8
lipoidosis 8 61
inborn lipid storage disorder 8
lipid storage diseases 44
lipoid storage diseas 8


Related Diseases for Lipid Storage Disease

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Lipid Storage Disease:



Diseases related to lipid storage disease

Clinical Features for Lipid Storage Disease

Drugs & Therapeutics for Lipid Storage Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Lipid Storage Disease

Anatomical Context for Lipid Storage Disease

Animal Models for Lipid Storage Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Lipid Storage Disease

Sources:
51PubMed
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Articles related to Lipid Storage Disease:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy. (23449549)
2013
2
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. (23333026)
2013
3
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. (23867907)
2013
4
In vivo hepatic lipid quantification using MRS at 7 Tesla in a mouse model of glycogen storage disease type 1a. (23596325)
2013
5
Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease. (24370872)
2013
6
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. (22832386)
2012
7
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. (22491199)
2012
8
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. (22964912)
2012
9
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. (21695016)
2011
10
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (21045422)
2010
11
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. (19696711)
2009
12
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (19401457)
2009
13
Jordans' anomaly in a new neutral lipid storage disease. (18429052)
2009
14
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. (18445677)
2008
15
Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. (17407002)
2007
16
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. (17657808)
2007
17
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. (15967942)
2005
18
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. (15944902)
2005
19
Use of Rab GTPases to study lipid trafficking in normal and sphingolipid storage disease fibroblasts. (16473585)
2005
20
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. (11829492)
2002
21
Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. (11997500)
2002
22
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. (11251597)
2001
23
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (10745395)
2000
24
Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease. (10735362)
2000
25
Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation. (10551400)
1999
26
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. (9469583)
1998
27
Neutral lipid storage disease with fatty liver and cholestasis. (9360211)
1997
28
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. (8110183)
1994
29
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. (8181512)
1994
30
Glycogen storage disease associated with Niemann-Pick disease: histochemical, enzymatic, and lipid analyses. (8058718)
1994
31
Genetic lipid storage disease with lysosomal acid lipase deficiency in rats. (2170747)
1990
32
Independence of triacylglycerol-containing compartments in cultured fibroblasts from Wolman disease and multisystemic lipid storage myopathy. (2737299)
1989
33
Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. (2615292)
1989
34
Multifocal verruciform xanthoma of the upper aerodigestive tract in a child with a systemic lipid storage disease. (2539022)
1989
35
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. (3139924)
1988
36
Ichthyosis and neutral lipid storage disease. (3354610)
1988
37
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses. (3037847)
1987
38
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. (4026335)
1985
39
Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease. (4031853)
1985
40
Gaucher's disease: a case history with extensive lipid storage in the brain. (3984948)
1985
41
The airway of patients with a lipid storage disease. (6517292)
1984
42
Fine structure of lipid storage in epithelial cells lining bile ducts in Niemann-Pick's disease. (6228729)
1983
43
The liver in lipid storage disease: biochemical basis of pathogenesis and clinical features. (6810410)
1982
44
Amiodarone keratopathy: drug-induced lipid storage disease. (6258544)
1981
45
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome. (7432384)
1980
46
Tangier disease: one explanation of lipid storage. (210378)
1978
47
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. (4360855)
1974
48
Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. (5135907)
1971
49
Progressive paresis of vertical gaze in lipid storage disease. (5106253)
1971
50
Lipid storage disease. (5902863)
1966

Genetic Variations for Lipid Storage Disease

Expression for genes affiliated with Lipid Storage Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lipid Storage Disease

Search GEO for disease gene expression data for Lipid Storage Disease.

Pathways for genes affiliated with Lipid Storage Disease

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG
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Compounds for genes affiliated with Lipid Storage Disease

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Lipid Storage Disease according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl-beta-d-glucoside459.8GALC, PSAP
2psychosine459.8GALC, PSAP
3galactosylceramide459.7GALC, PSAP
4lactosylceramide459.5SMPD2, PSAP
5glycerol45 11 2411.3PNPLA2, PLIN1, PLIN2
6glucosylceramide45 2410.2PSAP, GALC, SMPD2
7acyl-coa459.1ETFDH, ETFB, PLIN2, PLIN1
8choline45 11 2411.1PSAP, ETFDH, SLC22A5
9mannose 6-phosphate45 249.9PLIN1, PLIN2, GALC, PSAP
10triacylglycerol458.9PNPLA2, PLIN1, PLIN2, ABHD5, LIPA
11sterol458.8SMPD2, PLIN2, CYP27A1
12fatty acid458.8GALC, ETFDH, PLIN2, PLIN1, PNPLA2
13cholesterol45 29 11 2411.1PSAP, LIPA, CYP27A1, PLIN2, PLIN1, SMPD2
14lipid457.3PSAP, GALC, LIPA, CYP27A1, ABHD5, PLIN2

GO Terms for genes affiliated with Lipid Storage Disease

Sources:
16Gene Ontology
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Cellular components related to Lipid Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.6CYP27A1, ETFB, ETFDH
2lipid particleGO:0058118.7PNPLA2, PLIN1, PLIN2, ABHD5

Biological processes related to Lipid Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of triglyceride catabolic processGO:0108989.8ABHD5, PNPLA2, AADAC
2negative regulation of sequestering of triglycerideGO:0108919.7PNPLA2, ABHD5
3triglyceride catabolic processGO:0194339.6PNPLA2, PLIN1, ABHD5
4sphingolipid metabolic processGO:0066659.1SMPD2, GALC, PSAP
5glycosphingolipid metabolic processGO:0066879.0PSAP, GALC, SMPD2
6small molecule metabolic processGO:0442816.1SMPD2, PSAP, GALC, ETFDH, ETFB, CYP27A1

Molecular functions related to Lipid Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:0090559.6CYP27A1, ETFB, ETFDH
2triglyceride lipase activityGO:0048069.6AADAC, PNPLA2, ABHD5
3lipase activityGO:0162989.5AADAC, LIPA

Products for genes affiliated with Lipid Storage Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipid Storage Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet