MCID: LPD009
MIFTS: 46

Lipid Storage Disease malady

Summaries for Lipid Storage Disease

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8Disease Ontology, 43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 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 myopathy. 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. Affiliated tissues include liver, bone and bone marrow, and 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:63 Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful... more...

Aliases & Classifications for Lipid Storage Disease

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8Disease Ontology, 60UMLS, 43NINDS, 56SNOMED-CT, 34MeSH, 27ICD9CM
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Aliases & Descriptions:

lipid storage disease 8
lipoidosis 8 60
inborn lipid storage disorder 8
lipid storage diseases 43
lipoid storage diseas 8


Related Diseases for Lipid Storage Disease

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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

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Drugs & Therapeutics for Lipid Storage Disease

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5CenterWatch, 41NIH 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

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Anatomical Context for Lipid Storage Disease

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32MalaCards
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MalaCards organs/tissues related to Lipid Storage Disease:

32
Liver, Bone, Bone marrow, Brain, Spleen, Skin

Animal Models for Lipid Storage Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lipid Storage Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8PNPLA2, PLIN1, PLIN2, LIPA
2MP:00053698.5PSAP, GALC, ABHD5, PLIN1, PNPLA2
3MP:00053858.2GALC, SLC22A5, LIPA, ABHD5, PNPLA2, PSAP
4MP:00053787.2SLC22A5, PNPLA2, PLIN1, PLIN2, LIPA, GALC
5MP:00053707.1CYP27A1, GALC, LIPA, PLIN1, SLC22A5, PNPLA2
6MP:00053766.5PLIN1, PLIN2, ABHD5, CYP27A1, PNPLA2, PSAP

Publications for Lipid Storage Disease

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50PubMed
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Articles related to Lipid Storage Disease:

(show top 50)    (show all 87)
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
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. (22491199)
2012
7
Neutral lipid storage disease with unusual presentation: report of three cases. (21575048)
2012
8
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
2010
9
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. (19696711)
2009
10
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
2008
11
Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. (18483801)
2008
12
Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]. (17631826)
2007
13
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. (17657808)
2007
14
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. (15944902)
2005
15
Disturbed lipid metabolism in glycogen storage disease type 1. (12373575)
2002
16
Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. (11997500)
2002
17
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. (11251597)
2001
18
Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. (11177564)
2001
19
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (10745395)
2000
20
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. (10573364)
1999
21
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. (9469583)
1998
22
Neutral lipid storage disease with fatty liver and cholestasis. (9360211)
1997
23
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
1996
24
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
1994
25
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. (8181512)
1994
26
Beneficial effects of fish-oil supplements on lipids, lipoproteins, and lipoprotein lipase in patients with glycogen storage disease type I. (8503363)
1993
27
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. (1909403)
1991
28
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. (2001430)
1991
29
Spectroscopic MRI: a tool for the evaluation of systemic lipid storage disease. (2392038)
1990
30
Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. (2615292)
1989
31
Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
1988
32
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses. (3037847)
1987
33
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. (4026335)
1985
34
Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease. (4031853)
1985
35
The airway of patients with a lipid storage disease. (6517292)
1984
36
Niemann-Pick disease: lipid storage in bone marrow macrophages. (6654690)
1983
37
Fine structure of lipid storage in epithelial cells lining bile ducts in Niemann-Pick's disease. (6228729)
1983
38
Lipid storage disease: Part I. Ultrastructure of xanthoma cells in various xanthomatous diseases. (6650173)
1983
39
The liver in lipid storage disease: biochemical basis of pathogenesis and clinical features. (6810410)
1982
40
Electron microscopic studies in lipid storage disease. (6266977)
1981
41
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome. (7432384)
1980
42
Tangier disease: one explanation of lipid storage. (210378)
1978
43
Ocular movements in lipid storage disease. Reports of juvenile Gaucher disease and the ophthalmoplegic lipidosis. (953203)
1976
44
Neutral-lipid storage disease: a new disorder of lipid metabolism. (1139147)
1975
45
Morphological features in a neutral lipid storage disease. (1165295)
1975
46
Mental retardation in children. III. Tay-Sachs disease and infantile lipid storage disorders with visceral involvement. (4214767)
1974
47
Progressive paresis of vertical gaze in lipid storage disease. (5106253)
1971
48
Biochemical studies on two cases of neuronal lipid storage disease. (5688475)
1968
49
Neuropathy in Tangier disease. Alpha-Lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. (4165386)
1967
50
Lipid storage disease. (5902863)
1966

Genetic Variations for Lipid Storage Disease

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Expression for genes affiliated with Lipid Storage Disease

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

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Pathways for genes affiliated with Lipid Storage Disease

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37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Lipid Storage Disease

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Lipid Storage Disease according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl-beta-d-glucoside449.8GALC, PSAP
2psychosine449.8PSAP, GALC
3galactosylceramide449.7PSAP, GALC
4lactosylceramide449.5SMPD2, PSAP
5glycerol44 11 2411.3PLIN2, PLIN1, PNPLA2
6glucosylceramide44 2410.2PSAP, GALC, SMPD2
7acyl-coa449.1PLIN2, ETFB, ETFDH, PLIN1
8choline44 11 2411.1ETFDH, SLC22A5, PSAP
9mannose 6-phosphate44 249.9PLIN2, PLIN1, GALC, PSAP
10triacylglycerol448.9PLIN1, LIPA, ABHD5, PLIN2, PNPLA2
11sterol448.8CYP27A1, SMPD2, PLIN2
12fatty acid448.8PLIN1, PLIN2, PNPLA2, ETFDH, GALC
13cholesterol44 28 11 2411.1PSAP, SMPD2, PLIN1, PLIN2, CYP27A1, LIPA
14lipid447.3GALC, PNPLA2, PLIN1, PLIN2, ABHD5, CYP27A1

GO Terms for genes affiliated with Lipid Storage Disease

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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:0108989.8AADAC, PNPLA2, ABHD5
2negative regulation of sequestering of triglycerideGO:0108919.7PNPLA2, ABHD5
3triglyceride catabolic processGO:0194339.6ABHD5, PLIN1, PNPLA2
4sphingolipid metabolic processGO:0066659.1PSAP, GALC, SMPD2
5glycosphingolipid metabolic processGO:0066879.0SMPD2, GALC, PSAP
6small molecule metabolic processGO:0442816.1PSAP, PNPLA2, PLIN1, PLIN2, PLA2G16, ABHD5

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

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  • Antibodies
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Sources for Lipid Storage Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet