Aliases & Classifications for Neutral Lipid Storage Disease

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS
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Neutral Lipid Storage Disease, Aliases & Descriptions:

Name: Neutral Lipid Storage Disease 9 11 43
Triglyceride Storage Disease with Ichthyosis 60
 
Chanarin-Dorfman Syndrome 9


External Ids:

Disease Ontology9 DOID:0050729

Summaries for Neutral Lipid Storage Disease

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Disease Ontology:9 A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.

MalaCards based summary: Neutral Lipid Storage Disease, also known as triglyceride storage disease with ichthyosis, is related to obesity and lipid storage disease, and has symptoms including sensorineural hearing impairment, dry skin and abnormality of lipid metabolism. An important gene associated with Neutral Lipid Storage Disease is PNPLA2 (patatin-like phospholipase domain containing 2), and among its related pathways are triacylglycerol biosynthesis and Lipoprotein metabolism. The compounds mannose 6-phosphate and catecholamine have been mentioned in the context of this disorder. Affiliated tissues include liver and skin, and related mouse phenotypes are adipose tissue and integument.

Wikipedia:63 Neutral lipid storage disease (also known as Chanarin?Dorfman syndrome) is an autosomal recessive... more...

Related Diseases for Neutral Lipid Storage Disease

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Diseases related to Neutral Lipid Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1obesity29.8PNPLA2, PLIN2, PLIN1
2lipid storage disease11.1
3neutral lipid storage disease with myopathy11.0
4myopathy10.8
5chanarin-dorfman syndrome10.6
6ichthyosis, congenital, autosomal recessive 110.3
7liver cirrhosis10.3
8lipid metabolism disorder10.3
9hypoglycemia10.3ETFDH
10cholestasis10.3
11glutaric acidemia iic10.2ETFDH
12carnitine deficiency, systemic primary9.6ABHD5, PNPLA2, ETFDH, ETFB, SLC22A5

Graphical network of diseases related to Neutral Lipid Storage Disease:



Diseases related to neutral lipid storage disease

Symptoms for Neutral Lipid Storage Disease

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HPO human phenotypes related to Neutral Lipid Storage Disease:

(show all 22)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 dry skin hallmark (90%) HP:0000958
3 abnormality of lipid metabolism hallmark (90%) HP:0003119
4 ichthyosis hallmark (90%) HP:0008064
5 retinopathy typical (50%) HP:0000488
6 ptosis typical (50%) HP:0000508
7 muscle weakness typical (50%) HP:0001324
8 hepatomegaly typical (50%) HP:0002240
9 myopathy typical (50%) HP:0003198
10 amyotrophy typical (50%) HP:0003202
11 emg abnormality typical (50%) HP:0003457
12 short stature typical (50%) HP:0004322
13 abnormal retinal pigmentation typical (50%) HP:0007703
14 cognitive impairment typical (50%) HP:0100543
15 cataract occasional (7.5%) HP:0000518
16 nystagmus occasional (7.5%) HP:0000639
17 diabetes mellitus occasional (7.5%) HP:0000819
18 reduced tendon reflexes occasional (7.5%) HP:0001315
19 abnormality of the aortic valve occasional (7.5%) HP:0001646
20 incoordination occasional (7.5%) HP:0002311
21 cranial nerve paralysis occasional (7.5%) HP:0006824
22 opacification of the corneal stroma occasional (7.5%) HP:0007759

Drugs & Therapeutics for Neutral Lipid Storage Disease

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Drug clinical trials:

Search ClinicalTrials for Neutral Lipid Storage Disease

Search NIH Clinical Center for Neutral Lipid Storage Disease

Genetic Tests for Neutral Lipid Storage Disease

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Anatomical Context for Neutral Lipid Storage Disease

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MalaCards organs/tissues related to Neutral Lipid Storage Disease:

31
Liver, Skin

Animal Models for Neutral Lipid Storage Disease or affiliated genes

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MGI Mouse Phenotypes related to Neutral Lipid Storage Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1PNPLA2, PLIN2, PLIN1
2MP:00107718.7ABHD5, PNPLA2, PLIN2, PLIN1
3MP:00053708.1ABHD5, PNPLA2, PLIN2, PLIN1, SLC22A5
4MP:00053787.8PLIN1, PLIN2, PNPLA2, ABHD5, SLC22A5

Publications for Neutral Lipid Storage Disease

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Articles related to Neutral Lipid Storage Disease:

(show all 45)
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
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. (23824421)
2013
7
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. (23867907)
2013
8
Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease. (24370872)
2013
9
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. (22832386)
2012
10
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. (22491199)
2012
11
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. (22964912)
2012
12
Neutral lipid storage disease with unusual presentation: report of three cases. (21575048)
2012
13
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. (21695016)
2011
14
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (21045422)
2010
15
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
2010
16
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. (21073837)
2010
17
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (19401457)
2009
18
Jordans' anomaly in a new neutral lipid storage disease. (18429052)
2009
19
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
2008
20
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. (18445677)
2008
21
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
22
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (17187067)
2007
23
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. (17657808)
2007
24
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). (16741516)
2006
25
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. (11251597)
2001
26
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (10745395)
2000
27
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. (10573364)
1999
28
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. (9469583)
1998
29
Neutral lipid storage disease with fatty liver and cholestasis. (9360211)
1997
30
Neutral lipid storage disease--response to dietary intervention. (9301368)
1997
31
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
1996
32
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
1994
33
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. (8110183)
1994
34
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. (8181512)
1994
35
Neutral lipid storage disease. Case report and lipid studies. (8186119)
1994
36
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. (1909403)
1991
37
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. (2001430)
1991
38
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. (3139924)
1988
39
Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
1988
40
Ichthyosis and neutral lipid storage disease. (3354610)
1988
41
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. (4026335)
1985
42
Ichthyosis and neutral lipid storage disease. (3993689)
1985
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

Variations for Neutral Lipid Storage Disease

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Expression for genes affiliated with Neutral Lipid Storage Disease

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

Pathways for genes affiliated with Neutral Lipid Storage Disease

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Pathways related to Neutral Lipid Storage Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)36
CDP-diacylglycerol biosynthesis I36
Triacylglyceride Synthesis36
9.8ABHD5, PNPLA2
2
Show member pathways
9.6ABHD5, PLIN1
39.4PLIN2, PLIN1
4
Show member pathways
7.1ABHD5, PNPLA2, ETFDH, ETFB, PLIN2, PLIN1

Compounds for genes affiliated with Neutral Lipid Storage Disease

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Sources:
43Novoseek, 24HMDB, 12DrugBank
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Compounds related to Neutral Lipid Storage Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate43 2410.4PLIN1, PLIN2
2catecholamine439.3PLIN1, PNPLA2
3carnitine439.2PLIN2, SLC22A5
4glycerol43 24 1211.2PLIN2, PNPLA2, PLIN1
5triacylglycerol438.9ABHD5, PNPLA2, PLIN2, PLIN1
6fatty acid438.8PLIN1, PLIN2, ETFDH, PNPLA2
7lipid438.8ABHD5, PLIN2, PNPLA2, PLIN1
8acyl-coa438.7ETFDH, ETFB, PLIN2, PLIN1

GO Terms for genes affiliated with Neutral Lipid Storage Disease

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Cellular components related to Neutral Lipid Storage Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:00432319.1PNPLA2, ETFB, ABHD5
2lipid particleGO:00058118.7PNPLA2, PLIN1, PLIN2, ABHD5
3endoplasmic reticulumGO:00057838.6PLIN2, PLIN1, PLA2G16

Biological processes related to Neutral Lipid Storage Disease according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of sequestering of triglycerideGO:00108919.8PNPLA2, ABHD5
2cellular metabolic processGO:00442379.6ETFDH, ETFB
3positive regulation of triglyceride catabolic processGO:00108989.6AADAC, PNPLA2, ABHD5
4respiratory electron transport chainGO:00229049.5ETFB, ETFDH
5triglyceride catabolic processGO:00194339.4ABHD5, PLIN1, PNPLA2
6glycerophospholipid biosynthetic processGO:00464749.0PLA2G16, PNPLA2
7small molecule metabolic processGO:00442817.2PNPLA2, ABHD5, PLIN1, PLIN2, ETFB, PLA2G16

Molecular functions related to Neutral Lipid Storage Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:00090559.6ETFB, ETFDH
2triglyceride lipase activityGO:00048069.1AADAC, PNPLA2, ABHD5

Products for genes affiliated with Neutral Lipid Storage Disease

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Sources for Neutral Lipid Storage Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet