MCID: LPD009
MIFTS: 50

Lipid Storage Disease malady

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Summaries for Lipid Storage Disease

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8Disease Ontology, 44NINDS, 65Wikipedia, 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 triacylglycerol biosynthesis and Lysosome. The compounds TG(18:0/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3] and TG(18:0/18:2(9Z,12Z)/20:0)[iso6] have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related mouse phenotypes are muscle and integument.

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:65 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, 62UMLS, 44NINDS, 58SNOMED-CT, 27ICD9CM, 35MeSH
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Aliases & Descriptions:

lipid storage disease 8
lipoidosis 8 62
inborn lipid storage disorder 8
lipid storage diseases 44
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

Symptoms for Lipid Storage Disease

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Drugs & Therapeutics for Lipid Storage Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Lipid Storage Disease

Genetic Tests for Lipid Storage Disease

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Anatomical Context for Lipid Storage Disease

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33MalaCards
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MalaCards organs/tissues related to Lipid Storage Disease:

33
Liver, Bone, Bone marrow, Spleen, Brain, Skin

Animal Models for Lipid Storage Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Lipid Storage Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6ABHD5, PNPLA2, PSAP, PLIN1, GALC
2MP:00107718.3PLIN1, PLIN2, LIPA, PNPLA2, ABHD5
3MP:00053758.3PNPLA2, LIPA, PLIN2, PLIN1
4MP:00053858.2ABHD5, PNPLA2, LIPA, PSAP, GALC, SLC22A5
5MP:00053787.1ABHD5, PNPLA2, LIPA, PSAP, PLIN2, PLIN1
6MP:00053706.9SLC22A5, ABHD5, CYP27A1, PNPLA2, LIPA, PSAP
7MP:00053766.4ABHD5, CYP27A1, PNPLA2, SMPD2, LIPA, PSAP

Publications for Lipid Storage Disease

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52PubMed
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Articles related to Lipid Storage Disease:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. (23146629)
2013
2
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
3
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. (23333026)
2013
4
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. (23824421)
2013
5
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. (22832386)
2012
6
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. (22491199)
2012
7
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. (22964912)
2012
8
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. (21695016)
2011
9
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (21045422)
2010
10
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
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
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
2008
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
Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. (18483801)
2008
16
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
17
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (17187067)
2007
18
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). (16741516)
2006
19
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. (15967942)
2005
20
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. (15944902)
2005
21
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. (11829492)
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
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. (9469583)
1998
25
Neutral lipid storage disease with fatty liver and cholestasis. (9360211)
1997
26
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
1996
27
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
1994
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
Neutral lipid storage disease. Case report and lipid studies. (8186119)
1994
31
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. (1909403)
1991
32
Spectroscopic MRI: a tool for the evaluation of systemic lipid storage disease. (2392038)
1990
33
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. (3139924)
1988
34
Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
1988
35
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses. (3037847)
1987
36
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. (4026335)
1985
37
Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease. (4031853)
1985
38
The airway of patients with a lipid storage disease. (6517292)
1984
39
Lipid storage disease: Part I. Ultrastructure of xanthoma cells in various xanthomatous diseases. (6650173)
1983
40
The liver in lipid storage disease: biochemical basis of pathogenesis and clinical features. (6810410)
1982
41
Electron microscopic studies in lipid storage disease. (6266977)
1981
42
Amiodarone keratopathy: drug-induced lipid storage disease. (6258544)
1981
43
Two populations of type I fibres in striated muscle from a case of neutral lipid storage disease. (521823)
1979
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
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. (4360855)
1974
47
Progressive paresis of vertical gaze in lipid storage disease. (5106253)
1971
48
Lipid storage disease in a Siamese cat. (5461697)
1970
49
Lipid storage disease. (5902863)
1966
50
A case of amaurotic family idiocy with lipid storage disease of bone. (13488863)
1957

Variations for Lipid Storage Disease

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Expression for genes affiliated with Lipid Storage Disease

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome
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Pathways related to Lipid Storage Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)38
CDP-diacylglycerol biosynthesis I38
Triacylglyceride Synthesis38
10.0PNPLA2, ABHD5
29.1GALC, PSAP, LIPA
3
Show member pathways
9.0SMPD2, PSAP, GALC
4
Show member pathways
5.8GALC, ABHD5, CYP27A1, PNPLA2, SMPD2, ETFDH

Compounds for genes affiliated with Lipid Storage Disease

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

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idCompoundScoreTop Affiliating Genes
1TG(18:0/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]2410.2LIPA, PNPLA2
2TG(18:0/18:2(9Z,12Z)/20:0)[iso6]2410.2LIPA, PNPLA2
3TG(18:0/18:2(9Z,12Z)/20:1(11Z))[iso6]2410.2LIPA, PNPLA2
4TG(18:0/18:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso6]2410.2PNPLA2, LIPA
5TG(16:1(9Z)/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]2410.2PNPLA2, LIPA
6TG(16:1(9Z)/20:1(11Z)/20:1(11Z))[iso3]2410.2PNPLA2, LIPA
7TG(16:1(9Z)/20:0/20:4(5Z,8Z,11Z,14Z))[iso6]2410.2PNPLA2, LIPA
8TG(16:1(9Z)/20:0/20:1(11Z))[iso6]2410.2PNPLA2, LIPA
9TG(18:0/18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z))[iso6]2410.1LIPA, PNPLA2
10TG(18:1(9Z)/18:2(9Z,12Z)/20:0)[iso6]2410.1LIPA, PNPLA2
11TG(20:0/20:0/20:0)2410.1LIPA, PNPLA2
12TG(18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]2410.1PNPLA2, LIPA
13TG(18:2(9Z,12Z)/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]2410.1PNPLA2, LIPA
14TG(18:2(9Z,12Z)/20:1(11Z)/20:1(11Z))[iso3]2410.1PNPLA2, LIPA
15TG(18:1(9Z)/20:0/20:0)[iso3]2410.1PNPLA2, LIPA
16TG(18:1(9Z)/18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z))[iso6]2410.1PNPLA2, LIPA
17TG(18:1(9Z)/18:2(9Z,12Z)/20:1(11Z))[iso6]2410.1PNPLA2, LIPA
18TG(16:0/18:2(9Z,12Z)/20:0)[iso6]2410.1LIPA, PNPLA2
19TG(16:0/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]2410.1PNPLA2, LIPA
20TG(16:0/18:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso6]2410.1PNPLA2, LIPA
21TG(16:0/16:1(9Z)/20:1(11Z))[iso6]2410.0PNPLA2, LIPA
22TG(16:0/16:1(9Z)/20:0)[iso6]2410.0PNPLA2, LIPA
23TG(16:0/16:1(9Z)/18:2(9Z,12Z))[iso6]2410.0PNPLA2, LIPA
24TG(16:0/16:1(9Z)/18:1(9Z))[iso6]2410.0PNPLA2, LIPA
254-methylumbelliferyl-beta-d-glucoside4510.0PSAP, GALC
26psychosine4510.0GALC, PSAP
27TG(16:0/16:1(9Z)/18:0)[iso6]2410.0PNPLA2, LIPA
28galactosylceramide4510.0GALC, PSAP
29TG(16:0/18:2(9Z,12Z)/20:1(11Z))[iso6]2410.0LIPA, PNPLA2
30TG(16:1(9Z)/20:0/20:0)[iso3]249.9PNPLA2, LIPA
31TG(16:1(9Z)/18:0/20:0)[iso6]249.9PNPLA2, LIPA
32LysoSM(d18:1)249.9SMPD2, PSAP
33LysoSM(d18:0)249.9SMPD2, PSAP
34lactosylceramide459.9SMPD2, PSAP
35TG(16:1(9Z)/18:0/18:2(9Z,12Z))[iso6]249.8PNPLA2, LIPA
36TG(16:1(9Z)/18:0/18:1(9Z))[iso6]249.8PNPLA2, LIPA
37TG(16:0/18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.8PNPLA2, LIPA
38TG(16:1(9Z)/18:0/18:0)[iso3]249.7PNPLA2, LIPA
39choline45 24 1111.7SLC22A5, PSAP, ETFDH
40TG(16:1(9Z)/16:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.5PNPLA2, LIPA
41glycerol45 24 1111.5PLIN1, PLIN2, PNPLA2
423-O-Sulfogalactosylceramide (d18:1/24:0)249.5SMPD2, PSAP, GALC
43glucosylceramide45 2410.5GALC, PSAP, SMPD2
44sterol459.3CYP27A1, SMPD2, PLIN2
45acyl-coa459.1PLIN1, PLIN2, ETFB, ETFDH
46mannose 6-phosphate45 249.8PSAP, PLIN2, PLIN1, GALC
47triacylglycerol458.8ABHD5, PNPLA2, LIPA, PLIN2, PLIN1
48fatty acid458.8GALC, PLIN1, PLIN2, ETFDH, PNPLA2
49cholesterol45 29 24 1111.0CYP27A1, SMPD2, LIPA, PSAP, PLIN2, PLIN1
50lipid457.1GALC, ABHD5, CYP27A1, PNPLA2, SMPD2, LIPA

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:0057599.6ETFB, ETFDH, CYP27A1
2lipid particleGO:0058118.5PLIN1, PLIN2, PNPLA2, 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:0194339.6PLIN1, PNPLA2, ABHD5
4sphingolipid metabolic processGO:0066659.0GALC, PSAP, SMPD2
5glycosphingolipid metabolic processGO:0066878.9SMPD2, PSAP, GALC
6small molecule metabolic processGO:0442816.0GALC, ABHD5, CYP27A1, PNPLA2, SMPD2, ETFDH

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

idNameGO IDScoreTop Affiliating Genes
1lipase activityGO:0162989.7AADAC, LIPA
2triglyceride lipase activityGO:0048069.4AADAC, PNPLA2, ABHD5

Products for genes affiliated with Lipid Storage Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipid Storage Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet