MCID: NTR001
MIFTS: 32

Neutral Lipid Storage Disease malady

Category: Metabolic diseases

Aliases & Classifications for Neutral Lipid Storage Disease

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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
UMLS65 C0268238

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 neutral lipid storage disease with myopathy, 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 Longevity regulating pathway - multiple species. Affiliated tissues include liver, skeletal muscle and skin, and related mouse phenotype integument.

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):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 41241859-67-039042
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
2Hypolipidemic AgentsPhase 42228
3Anticholesteremic AgentsPhase 41732
4Clofibric AcidPhase 419882-09-7
5AntimetabolitesPhase 49454
6Liver ExtractsPhase 2, Phase 33572
7Pharmaceutical Solutions7004

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 MyopathyRecruitingNCT02635269

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, Skeletal muscle, Skin, Lung, Breast, Placenta, Neutrophil

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

Publications for Neutral Lipid Storage Disease

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Articles related to Neutral Lipid Storage Disease:

(show all 46)
idTitleAuthorsYear
1
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings. (27066576)
2016
2
Outcomes of pediatric appendicitis: an international comparison of the United States and Canada. (24257904)
2014
3
Lower serum osteocalcin is associated with more severe metabolic syndrome in elderly men from the MINOS cohort. (24842726)
2014
4
Serum creatine kinase levels are associated with extremity compartment syndrome. (23354236)
2013
5
Education and imaging: gastrointestinal: cholecystoduodenal fistula with gallstone-induced intestinal obstruction. (23339389)
2013
6
Maternal floor infarction/massive perivillous fibrin deposition: a manifestation of maternal antifetal rejection? (23905710)
2013
7
Leptin attenuates the anti-estrogen effect of tamoxifen in breast cancer. (23199901)
2013
8
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft. (22473151)
2012
9
Spectral-domain optical coherence tomography of I^-zone peripapillary atrophy: influence of myopia and glaucoma. (22323471)
2012
10
Surgical management of intraventricular central neurocytoma: 92 cases. (22941394)
2012
11
Carpal tunnel syndrome secondary to an osteophyte of the trapezium. (21868228)
2011
12
Metabolic Depression is Delayed and Mitochondrial Impairment Averted during Prolonged Anoxia in the ghost shrimp, Lepidophthalmus louisianensis (Schmitt, 1935). (20160865)
2009
13
Metastatic uterine cervical cancer originating in the lung: a case report. (19776615)
2009
14
Haematopoietic malignancies caused by dysregulation of a chromatin-binding PHD finger. (19430464)
2009
15
Dedifferentiated epithelial-myoepithelial carcinoma of the parotid gland: a rare case report of immunohistochemical analysis and review of the literature. (18417380)
2008
16
Reticulon 3 mediates Bcl-2 accumulation in mitochondria in response to endoplasmic reticulum stress. (17191123)
2007
17
Topiramate reduced sweat secretion and aquaporin-5 expression in sweat glands of mice. (17521680)
2007
18
MEK/ERK signaling is a critical mediator for integrin-induced cell scattering in highly metastatic hepatocellular carcinoma cells. (16636681)
2006
19
Neurophysiologic studies in Krabbe disease. (16893123)
2006
20
Tissue inhibitors of metalloproteinases-1 (TIMP-1) and -2(TIMP-2) are major serum factors that stimulate the TIMP-1 gene in human gingival fibroblasts. (16631927)
2006
21
Application of mitomycin-C for head and neck keloids. (17141089)
2006
22
Reduction and oxidation of the active site iron in tyrosine hydroxylase: kinetics and specificity. (16475826)
2006
23
The non-amyloidogenic pathway: structure and function of alpha-secretases. (15709475)
2005
24
Transsphenoidal microsurgery for pediatric craniopharyngioma: special considerations regarding indications and method. (12845200)
2003
25
Increased detection of rickettsialpox in a New York City hospital following the anthrax outbreak of 2001: use of immunohistochemistry for the rapid confirmation of cases in an era of bioterrorism. (14676069)
2003
26
A slow RNA polymerase II affects alternative splicing in vivo. (14536091)
2003
27
Combination of lumbar kyphosis, epidural lipomatosis, and perineural cyst as a cause of neurological deficit: a case report. (12486480)
2002
28
Targeting of an A kinase-anchoring protein, AKAP79, to an inwardly rectifying potassium channel, Kir2.1. (11287423)
2001
29
Cooperation of liver cells in health and disease. (11729749)
2001
30
Actin associates with the nucleocapsid domain of the human immunodeficiency virus Gag polyprotein. (9971772)
1999
31
Alterations in neurotransmitter, amino acid and free radical related substances in cerebrospinal fluid in patients with cerebrovascular diseases]. (10410569)
1999
32
Human chorionic gonadotrophin concentrations in early pregnancy after in-vitro fertilization. (10357992)
1999
33
Abdominal compartment syndrome and acute anuria. (9794580)
1998
34
Calcium site specificity. Early Ca2+-related tight junction events. (9382899)
1997
35
Evolution of the creative kinases. The chicken acidic type mitochondrial creatine kinase gene as the first nonmammalian gene. (8662608)
1996
36
Structural and functional characterization of the human CD36 gene promoter: identification of a proximal PEBP2/CBF site. (8631821)
1996
37
Expression of an endogenous asialoglycoprotein receptor in a human intestinal epithelial cell line, Caco-2. (8038219)
1994
38
Dichloroacetate. (1600837)
1992
39
Treatment stabilization and crisis prevention. Pacing the therapy of the multiple personality disorder patient. (1946029)
1991
40
Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi. (2958791)
1987
41
Defensins. Natural peptide antibiotics of human neutrophils. (2997278)
1985
42
A case of placenta praevia in a common marmoset (Callithrix jacchus). (6776678)
1980
43
Ovine cysticercosis and canine taeniasis in Victoria. (4640754)
1972
44
Cutaneous manifestations of primary and secondary syphilis. (13730669)
1960
45
The treatment of rickettsialpox with antibiotics. (13139180)
1952
46

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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GO Terms for genes affiliated with Neutral Lipid Storage Disease

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of triglyceride catabolic processGO:00108989.6AADAC, ABHD5
2lipid metabolic processGO:00066299.2ABHD5, 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

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