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:00053758.8LIPA, PLIN2, PLIN1, PNPLA2
2MP:00053698.5PSAP, GALC, ABHD5, PLIN1, PNPLA2
3MP:00053858.2SLC22A5, PNPLA2, ABHD5, LIPA, GALC, PSAP
4MP:00053787.2PSAP, GALC, LIPA, ABHD5, PLIN2, PLIN1
5MP:00053707.1SLC22A5, PSAP, GALC, LIPA, CYP27A1, ABHD5
6MP:00053766.5PSAP, GALC, LIPA, CYP27A1, ABHD5, PLIN2

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
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. (23146629)
2013
2
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. (23824421)
2013
3
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. (22832386)
2012
4
Lipid Storage Myopathy in BehAset's Disease: A Rare Cause of Elevated Serum Creatine Kinases Levels. (22937450)
2012
5
Neutral lipid storage disease with unusual presentation: report of three cases. (21575048)
2012
6
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. (21695016)
2011
7
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (21045422)
2010
8
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
2010
9
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. (21073837)
2010
10
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (19401457)
2009
11
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
2008
12
Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. (18483801)
2008
13
Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. (17407002)
2007
14
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
15
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (17187067)
2007
16
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). (16741516)
2006
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
Use of Rab GTPases to study lipid trafficking in normal and sphingolipid storage disease fibroblasts. (16473585)
2005
19
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. (11829492)
2002
20
Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease. (10735362)
2000
21
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. (10573364)
1999
22
Lipid storage disease. (9241629)
1997
23
Neutral lipid storage disease--response to dietary intervention. (9301368)
1997
24
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
1996
25
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
1994
26
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. (8110183)
1994
27
Neutral lipid storage disease. Case report and lipid studies. (8186119)
1994
28
Glycogen storage disease associated with Niemann-Pick disease: histochemical, enzymatic, and lipid analyses. (8058718)
1994
29
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. (1909403)
1991
30
Spectroscopic MRI: a tool for the evaluation of systemic lipid storage disease. (2392038)
1990
31
Multifocal verruciform xanthoma of the upper aerodigestive tract in a child with a systemic lipid storage disease. (2539022)
1989
32
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. (3139924)
1988
33
Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
1988
34
Ichthyosis and neutral lipid storage disease. (3354610)
1988
35
Ichthyosis and neutral lipid storage disease. (3993689)
1985
36
Gaucher's disease: a case history with extensive lipid storage in the brain. (3984948)
1985
37
Lipid storage disease: Part I. Ultrastructure of xanthoma cells in various xanthomatous diseases. (6650173)
1983
38
Amiodarone keratopathy: drug-induced lipid storage disease. (6258544)
1981
39
Two populations of type I fibres in striated muscle from a case of neutral lipid storage disease. (521823)
1979
40
The storage lipids in Tangier disease. A physical chemical study. (193870)
1977
41
Ocular movements in lipid storage disease. Reports of juvenile Gaucher disease and the ophthalmoplegic lipidosis. (953203)
1976
42
Neutral-lipid storage disease: a new disorder of lipid metabolism. (1139147)
1975
43
Morphological features in a neutral lipid storage disease. (1165295)
1975
44
Mental retardation in children. III. Tay-Sachs disease and infantile lipid storage disorders with visceral involvement. (4214767)
1974
45
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. (4360855)
1974
46
Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. (5135907)
1971
47
Lipid storage disease in a Siamese cat. (5461697)
1970
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
A case of amaurotic family idiocy with lipid storage disease of bone. (13488863)
1957

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

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:0108989.8ABHD5, 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

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  • Antibodies
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  • Lysates
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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