MCID: NTR001
MIFTS: 33

Neutral Lipid Storage Disease malady

Metabolic diseases category

Aliases & Classifications for Neutral Lipid Storage Disease

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 65UMLS
See all sources

Aliases & Descriptions for Neutral Lipid Storage Disease:

Name: Neutral Lipid Storage Disease 10 47 12
Triglyceride Storage Disease with Ichthyosis 65
 
Chanarin-Dorfman Syndrome 10


Classifications:



External Ids:

Disease Ontology10 DOID:0050729

Summaries for Neutral Lipid Storage Disease

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Disease Ontology:10 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 chanarin-dorfman syndrome 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 Regulation of lipolysis in adipocytes. Affiliated tissues include liver, skin and skeletal muscle, and related mouse phenotypes are integument and growth/size/body.

Wikipedia:68 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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Graphical network of the top 20 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 skeletal muscle atrophy typical (50%) HP:0003202
11 emg abnormality typical (50%) HP:0003457
12 short stature typical (50%) HP:0004322
13 abnormality of 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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Drugs for Neutral Lipid Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 41141859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
2Clofibric AcidPhase 418882-09-7

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)CompletedNCT01527318Phase 4
2Trial in Children With Growth Failure Due to Early Onset Lysosomal Acid Lipase (LAL) Deficiency/Wolman DiseaseActive, not recruitingNCT01371825Phase 2, Phase 3
3Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102TerminatedNCT01473875Phase 2, Phase 3
4Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyRecruitingNCT02193867Phase 2
5Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyNot yet recruitingNCT02635269

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:

33
Liver, Skin, Skeletal muscle

Animal Models for Neutral Lipid Storage Disease or affiliated genes

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MGI Mouse Phenotypes related to Neutral Lipid Storage Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6ABCA12, ABHD5, PLIN1, PNPLA2
2MP:00053787.8ABCA12, ABHD5, PLIN1, PNPLA2, PNPLA8

Publications for Neutral Lipid Storage Disease

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Articles related to Neutral Lipid Storage Disease:

(show all 46)
idTitleAuthorsYear
1
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings. (25956450)
2015
2
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. (24836204)
2014
3
Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A. (25363365)
2014
4
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. (23146629)
2013
5
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
6
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. (23333026)
2013
7
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. (23824421)
2013
8
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. (23867907)
2013
9
Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease. (24370872)
2013
10
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. (22832386)
2012
11
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. (22491199)
2012
12
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. (22964912)
2012
13
Neutral lipid storage disease with unusual presentation: report of three cases. (21575048)
2012
14
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. (21695016)
2011
15
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (21045422)
2010
16
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
2010
17
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. (21073837)
2010
18
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (19401457)
2009
19
Jordans' anomaly in a new neutral lipid storage disease. (18429052)
2009
20
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
2008
21
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. (18445677)
2008
22
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
23
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (17187067)
2007
24
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. (17657808)
2007
25
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). (16741516)
2006
26
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. (11251597)
2001
27
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (10745395)
2000
28
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. (10573364)
1999
29
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. (9469583)
1998
30
Neutral lipid storage disease with fatty liver and cholestasis. (9360211)
1997
31
Neutral lipid storage disease--response to dietary intervention. (9301368)
1997
32
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
1996
33
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
1994
34
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. (8110183)
1994
35
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. (8181512)
1994
36
Neutral lipid storage disease. Case report and lipid studies. (8186119)
1994
37
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. (1909403)
1991
38
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. (2001430)
1991
39
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. (3139924)
1988
40
Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
1988
41
Ichthyosis and neutral lipid storage disease. (3354610)
1988
42
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. (4026335)
1985
43
Ichthyosis and neutral lipid storage disease. (3993689)
1985
44
Two populations of type I fibres in striated muscle from a case of neutral lipid storage disease. (521823)
1979
45
Neutral-lipid storage disease: a new disorder of lipid metabolism. (1139147)
1975
46
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
9.7ABHD5, PNPLA2
29.2ABHD5, PLIN1, PNPLA2
3
Show member pathways
7.4AADAC, ABHD5, ETFDH, PLIN1, PNPLA2, PNPLA8

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
1lipid particleGO:00058119.2ABHD5, PLIN1, PNPLA2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of sequestering of triglycerideGO:001089110.4ABHD5, PNPLA2
2lipid homeostasisGO:005508810.0ABCA12, ABHD5
3fatty acid metabolic processGO:000663110.0ABHD5, PNPLA8
4glycerophospholipid biosynthetic processGO:004647410.0PNPLA2, PNPLA8
5triglyceride catabolic processGO:00194339.7ABHD5, PLIN1, PNPLA2
6positive regulation of triglyceride catabolic processGO:00108989.6AADAC, ABHD5, PNPLA2
7lipid metabolic processGO:00066299.1ABHD5, PLIN1, PNPLA2, PNPLA8
8metabolic processGO:00081528.1AADAC, ABCA12, PNPLA2, PNPLA8
9small molecule metabolic processGO:00442817.4AADAC, ABHD5, ETFDH, PLIN1, PNPLA2, PNPLA8

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

idNameGO IDScoreTop Affiliating Genes
1carboxylic ester hydrolase activityGO:00526899.2AADAC, ABHD5
2triglyceride lipase activityGO:00048068.6AADAC, ABHD5, PNPLA2

Sources for Neutral Lipid Storage Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet