MCID: LPD009
MIFTS: 52

Lipid Storage Disease malady

Metabolic diseases category
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Summaries for Lipid Storage Disease

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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 based summary: Lipid Storage Disease, also known as inborn lipid storage disorder, 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)/20:1(11Z))[iso6] 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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Lipid Storage Disease, Aliases & Descriptions:

Name: Lipid Storage Disease 8 62
Inborn Lipid Storage Disorder 8 62
Lipoidosis 8 62
 
Lipid Storage Diseases 43
Lipoid Storage Diseas 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Related Diseases for Lipid Storage Disease

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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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Drug clinical trials:

Search ClinicalTrials for Lipid Storage Disease

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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MalaCards organs/tissues related to Lipid Storage Disease:

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

Animal Models for Lipid Storage Disease or affiliated genes

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MGI Mouse Phenotypes related to Lipid Storage Disease:

36
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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Articles related to Lipid Storage Disease:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. (24836204)
2014
2
Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A. (25363365)
2014
3
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. (23146629)
2013
4
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
5
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. (23333026)
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
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
2010
12
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. (19696711)
2009
13
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (19401457)
2009
14
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
2008
15
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. (18445677)
2008
16
Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. (18483801)
2008
17
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
18
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (17187067)
2007
19
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). (16741516)
2006
20
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. (15967942)
2005
21
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. (15944902)
2005
22
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. (11829492)
2002
23
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. (11251597)
2001
24
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (10745395)
2000
25
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. (10573364)
1999
26
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. (9469583)
1998
27
Lipid storage disease. (9241629)
1997
28
Neutral lipid storage disease with fatty liver and cholestasis. (9360211)
1997
29
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
1996
30
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
1994
31
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. (8110183)
1994
32
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. (8181512)
1994
33
Neutral lipid storage disease. Case report and lipid studies. (8186119)
1994
34
Spectroscopic MRI: a tool for the evaluation of systemic lipid storage disease. (2392038)
1990
35
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. (3139924)
1988
36
Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
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
The airway of patients with a lipid storage disease. (6517292)
1984
41
Lipid storage disease: Part I. Ultrastructure of xanthoma cells in various xanthomatous diseases. (6650173)
1983
42
The liver in lipid storage disease: biochemical basis of pathogenesis and clinical features. (6810410)
1982
43
Electron microscopic studies in lipid storage disease. (6266977)
1981
44
Amiodarone keratopathy: drug-induced lipid storage disease. (6258544)
1981
45
Neutral-lipid storage disease: a new disorder of lipid metabolism. (1139147)
1975
46
Morphological features in a neutral lipid storage disease. (1165295)
1975
47
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. (4360855)
1974
48
Progressive paresis of vertical gaze in lipid storage disease. (5106253)
1971
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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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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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)37
CDP-diacylglycerol biosynthesis I37
Triacylglyceride Synthesis37
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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Sources:
24HMDB, 44Novoseek, 11DrugBank, 28IUPHAR
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Compounds related to Lipid Storage Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 136)
idCompoundScoreTop Affiliating Genes
1TG(18:0/18:2(9Z,12Z)/20:1(11Z))[iso6]2410.2PNPLA2, LIPA
2TG(18:0/18:2(9Z,12Z)/20:0)[iso6]2410.2PNPLA2, LIPA
3TG(18:0/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]2410.2PNPLA2, LIPA
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-glucoside4410.0GALC, PSAP
26psychosine4410.0PSAP, GALC
27TG(16:0/16:1(9Z)/18:0)[iso6]2410.0PNPLA2, LIPA
28galactosylceramide4410.0GALC, 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)249.9PSAP, SMPD2
33LysoSM(d18:0)249.9PSAP, SMPD2
34lactosylceramide449.9SMPD2, 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
39choline44 24 1111.7ETFDH, SLC22A5, PSAP
40TG(16:1(9Z)/16:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.5PNPLA2, LIPA
41glycerol44 24 1111.5PNPLA2, PLIN1, PLIN2
423-O-Sulfogalactosylceramide (d18:1/24:0)249.5SMPD2, GALC, PSAP
43glucosylceramide44 2410.5SMPD2, PSAP, GALC
44sterol449.3SMPD2, PLIN2, CYP27A1
45acyl-coa449.1ETFB, ETFDH, PLIN2, PLIN1
46mannose 6-phosphate44 249.8PSAP, PLIN2, PLIN1, GALC
47triacylglycerol448.8LIPA, PLIN2, PLIN1, ABHD5, PNPLA2
48fatty acid448.8ETFDH, PLIN2, PLIN1, GALC, PNPLA2
49cholesterol44 28 24 1111.0PLIN1, PLIN2, PSAP, LIPA, SMPD2, CYP27A1
50lipid447.1GALC, ABHD5, CYP27A1, PNPLA2, SMPD2, LIPA

GO Terms for genes affiliated with Lipid Storage Disease

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet