MCID: LPD009
MIFTS: 49

Lipid Storage Disease

Categories: Immune diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Lipid Storage Disease

MalaCards integrated aliases for Lipid Storage Disease:

Name: Lipid Storage Disease 12 15
Lipoidosis 12 73
Inborn Lipid Storage Disorder 12
Lipid Storage Diseases 54
Lipoid Storage Diseas 12
Lipidoses 44

Classifications:



External Ids:

Disease Ontology 12 DOID:9455
ICD10 33 E75.6
ICD9CM 35 272.7 272.8
MeSH 44 D008064
SNOMED-CT 68 10741005 11455007

Summaries for Lipid Storage Disease

NINDS : 54 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.  Lipids are important parts of the myelin sheath that coats and protects the nerves.  Over time, this excessive storage of fats can cause permanent damage to cells and tissues in the brain and peripheral nervous system, and in other parts of the body.  Symptoms may appear early in life or develop in the teen or even adult years.  Neurological complications of the lipid storage diseases may include: lack of muscle coordination, brain degeneration, seizures, loss of muscle tone, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, increased sensitivity to touch, pain in the arms and legs, and clouding of the cornea.

MalaCards based summary : Lipid Storage Disease, also known as lipoidosis, is related to neutral lipid storage disease with myopathy and chanarin-dorfman syndrome. An important gene associated with Lipid Storage Disease is PNPLA2 (Patatin Like Phospholipase Domain Containing 2), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Bezafibrate and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and liver, and related phenotypes are homeostasis/metabolism and behavior/neurological

Disease Ontology : 12 A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.

Wikipedia : 76 A lipid storage disorder (or lipidosis) can be any one of a group of inherited metabolic disorders in... more...

Related Diseases for Lipid Storage Disease

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 neutral lipid storage disease with myopathy 34.7 CRACR2B PNPLA2
2 chanarin-dorfman syndrome 33.7 ABHD5 PNPLA2
3 metachromatic leukodystrophy 32.0 ARSA GALC HEXA PSAP
4 niemann-pick disease 31.8 GBA NPC1 PSAP
5 gaucher disease, type i 31.8 GBA GBA3 HEXA PSAP
6 leukodystrophy 30.6 ARSA GALC PSAP
7 tay-sachs disease 30.2 ARSA HEXA PSAP
8 gaucher's disease 29.9 ARSA GBA GBA3 PSAP
9 sphingolipidosis 29.5 ARSA GALC GBA GBA3 GLA HEXA
10 inherited metabolic disorder 29.2 ARSA CLN3 ENSG00000261832 GBA GBA3 GLA
11 retinal dystrophy in systemic or cerebroretinal lipidoses 12.1
12 cerebrotendinous xanthomatosis 11.5
13 xanthomatosis 11.4
14 fatty liver disease 11.4
15 lipoid proteinosis of urbach and wiethe 11.4
16 lysosomal acid lipase deficiency 11.4
17 farber lipogranulomatosis 11.2
18 niemann-pick disease, type c1 11.1
19 adrenoleukodystrophy 11.1
20 fabry disease 11.1
21 lysosomal and lipase deficiency 11.1
22 cholesterol ester storage disease 11.1
23 lipidosis with triglycerid storage disease 11.1
24 myoclonus 11.1
25 myopathy 10.5
26 ichthyosis 10.3
27 infantile krabbe disease 10.3 GALC PSAP
28 metachromatic leukodystrophy, late infantile form 10.2 ARSA PSAP
29 metachromatic leukodystrophy, juvenile form 10.2 ARSA PSAP
30 metachromatic leukodystrophy, adult form 10.2 ARSA PSAP
31 gaucher disease, perinatal lethal 10.2 GBA HEXA
32 krabbe disease 10.2 ARSA GALC PSAP
33 inclusion-cell disease 10.2 ARSA PSAP
34 adult neuronal ceroid lipofuscinosis 10.2 PPT1 PSAP TPP1
35 gaucher disease, type ii 10.2 GBA PSAP
36 ceroid lipofuscinosis, neuronal, 1 10.1 CLN3 PPT1 TPP1
37 gangliosidosis gm2 10.1 HEXA NPC1
38 ceroid lipofuscinosis, neuronal, 3 10.1 CLN3 PPT1 TPP1
39 mucopolysaccharidoses 10.1
40 ceroid storage disease 10.1 CLN3 PPT1 TPP1
41 ceroid lipofuscinosis, neuronal, 11 10.1 CLN3 ENSG00000261832 PPT1
42 gangliosidosis gm1 10.1 ARSA GLA HEXA PSAP
43 neuronal ceroid-lipofuscinoses 10.1 CLN3 PPT1 PSAP TPP1
44 pancreatitis 10.1
45 sandhoff disease 10.1 HEXA NPC1
46 ceroid lipofuscinosis, neuronal, 2 10.0 CLN3 ENSG00000261832 PPT1 TPP1
47 neuronal ceroid lipofuscinosis 10.0 CLN3 ENSG00000261832 PPT1 PSAP TPP1
48 demyelinating disease 10.0
49 aminoacidopathies 10.0
50 muscle disorders 10.0

Comorbidity relations with Lipid Storage Disease via Phenotypic Disease Network (PDN):


Hypertension, Essential Ischemic Heart Disease

Graphical network of the top 20 diseases related to Lipid Storage Disease:



Diseases related to Lipid Storage Disease

Symptoms & Phenotypes for Lipid Storage Disease

MGI Mouse Phenotypes related to Lipid Storage Disease:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 ABHD5 ARSA CLN3 CYP27A1 GALC GBA
2 behavior/neurological MP:0005386 10.25 ARSA CLN3 GALC GBA GLA HEXA
3 liver/biliary system MP:0005370 10.25 ABHD5 CLN3 CYP27A1 GALC GBA GLA
4 hematopoietic system MP:0005397 10.18 ABHD5 ARSA CLN3 CYP27A1 GALC GBA
5 mortality/aging MP:0010768 10.18 ABHD5 CLN3 GALC GBA GLA HEXA
6 cardiovascular system MP:0005385 10.15 ABHD5 CYP27A1 GALC GBA GLA LIPA
7 immune system MP:0005387 10.13 ABHD5 ARSA CLN3 GALC GBA GLA
8 nervous system MP:0003631 10.03 ARSA CLN3 CYP27A1 GALC GBA GLA
9 muscle MP:0005369 9.87 ABHD5 GALC GLA PNPLA2 PPT1 PSAP
10 renal/urinary system MP:0005367 9.76 CLN3 CYP27A1 GALC GLA HEXA LIPA
11 skeleton MP:0005390 9.56 ABHD5 CYP27A1 GALC GBA HEXA NPC1
12 vision/eye MP:0005391 9.17 CLN3 GALC GLA HEXA NPC1 PPT1

Drugs & Therapeutics for Lipid Storage Disease

Drugs for Lipid Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 195)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2
Acetylcysteine Approved, Investigational Phase 4,Phase 1,Phase 2 616-91-1 12035
3
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
4
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 72599-27-0 51634
5
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
6
Ledipasvir Approved Phase 4 1256388-51-8 67505836
7
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
9
1-Deoxynojirimycin Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19130-96-2 1374
10 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
13 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
14 Clofibric Acid Phase 4 882-09-7
15 Antidotes Phase 4,Phase 1,Phase 2
16 Expectorants Phase 4,Phase 1,Phase 2
17 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
18 Protective Agents Phase 4,Phase 1,Phase 2
19 Respiratory System Agents Phase 4,Phase 1,Phase 2
20 Free Radical Scavengers Phase 4,Phase 1,Phase 2
21 N-monoacetylcystine Phase 4,Phase 1,Phase 2
22 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Antioxidants Phase 4,Phase 1,Phase 2
24 Bone Density Conservation Agents Phase 4,Phase 2,Not Applicable
25 Calciferol Phase 4,Phase 2,Not Applicable
26 Ergocalciferols Phase 4,Not Applicable
27 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable
28 Vitamins Phase 4,Phase 3,Phase 2,Not Applicable
29 Vitamin D2 Phase 4,Not Applicable
30 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable
31 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Hepatitis C Antibodies Phase 4
37 Ledipasvir, sofosbuvir drug combination Phase 4
38
Fenofibrate Approved Phase 3,Not Applicable 49562-28-9 3339
39
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
40
Simvastatin Approved Phase 3 79902-63-9 54454
41
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
42
Coal tar Approved Phase 3,Phase 2 8007-45-2
43
Eliglustat Approved Phase 3,Phase 2,Phase 1,Not Applicable 491833-29-5 23652731
44 tannic acid Approved Phase 3,Phase 2
45
Benzocaine Approved, Investigational Phase 3,Phase 2 94-09-7, 1994-09-7 2337
46
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
47
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
48
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
49
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
50
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0

Interventional clinical trials:

(show top 50) (show all 372)
# Name Status NCT ID Phase Drugs
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
2 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
3 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4 Cerezyme (imiglucerase for injection)
4 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
5 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
6 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
7 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
8 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
9 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
10 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
11 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
12 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
13 Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. Recruiting NCT03721627 Phase 4 Ledipasvir/Sofosbuvir
14 Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease Recruiting NCT03702361 Phase 4 VPRIV
15 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
16 Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease Recruiting NCT02574286 Phase 4 Velaglucerase alfa
17 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
18 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
19 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
20 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
21 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4 Fabrazyme (agalsidase beta)
22 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
23 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
24 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
25 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
26 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
27 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
28 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
29 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
30 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
31 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
32 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
33 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
34 A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease Completed NCT01298141 Phase 3
35 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3 migalastat hydrochloride
36 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
37 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Completed NCT01074944 Phase 3 Eliglustat tartrate
38 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
39 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
40 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
41 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
42 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
43 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
44 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
45 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
46 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
47 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
48 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
49 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
50 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3 Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)

Search NIH Clinical Center for Lipid Storage Disease

Cochrane evidence based reviews: lipidoses

Genetic Tests for Lipid Storage Disease

Anatomical Context for Lipid Storage Disease

MalaCards organs/tissues related to Lipid Storage Disease:

41
Brain, Bone, Liver, Spleen, Bone Marrow, Kidney, Pancreas

Publications for Lipid Storage Disease

Articles related to Lipid Storage Disease:

(show top 50) (show all 116)
# Title Authors Year
1
Pulmonary functions and sleep-related breathing disorders in lipid storage disease. ( 29497949 )
2018
2
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. ( 29440550 )
2018
3
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China. ( 29539587 )
2018
4
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant. ( 29779757 )
2018
5
Excessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney. ( 30073645 )
2018
6
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy. ( 30223778 )
2018
7
Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis. ( 30352762 )
2018
8
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement. ( 28258942 )
2017
9
Muscle MRI in neutral lipid storage disease (NLSD). ( 28503705 )
2017
10
Erratum to: Muscle MRI in neutral lipid storage disease (NLSD). ( 28608302 )
2017
11
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease. ( 26922712 )
2016
12
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation. ( 26600210 )
2016
13
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings. ( 25956450 )
2015
14
Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. ( 27896096 )
2014
15
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. ( 24836204 )
2014
16
Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A. ( 25363365 )
2014
17
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. ( 23824421 )
2013
18
Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease. ( 24370872 )
2013
19
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. ( 23867907 )
2013
20
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. ( 23146629 )
2013
21
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
22
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. ( 23333026 )
2013
23
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. ( 22832386 )
2012
24
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. ( 22491199 )
2012
25
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. ( 22964912 )
2012
26
Neutral lipid storage disease with unusual presentation: report of three cases. ( 21575048 )
2012
27
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. ( 21695016 )
2011
28
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. ( 21073837 )
2010
29
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. ( 20471263 )
2010
30
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. ( 21045422 )
2010
31
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. ( 19696711 )
2009
32
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. ( 19401457 )
2009
33
Jordans' anomaly in a new neutral lipid storage disease. ( 18429052 )
2009
34
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. ( 18445677 )
2008
35
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. ( 18952067 )
2008
36
[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. ( 18483801 )
2008
37
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. ( 17187067 )
2007
38
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. ( 17657808 )
2007
39
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). ( 16741516 )
2006
40
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. ( 15967942 )
2005
41
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. ( 15944902 )
2005
42
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. ( 11829492 )
2002
43
Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. ( 11997500 )
2002
44
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. ( 11251597 )
2001
45
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. ( 10745395 )
2000
46
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. ( 10573364 )
1999
47
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. ( 9469583 )
1998
48
Lipid storage disease. ( 9241629 )
1997
49
Neutral lipid storage disease--response to dietary intervention. ( 9301368 )
1997
50
Neutral lipid storage disease with fatty liver and cholestasis. ( 9360211 )
1997

Variations for Lipid Storage Disease

Expression for Lipid Storage Disease

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

Pathways for Lipid Storage Disease

GO Terms for Lipid Storage Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.92 ARSA GBA GLA HEXA NPC1 PPT1
2 lysosome GO:0005764 9.7 ARSA CLN3 GALC GBA GLA HEXA
3 lysosomal membrane GO:0005765 9.55 CLN3 ENSG00000261832 GBA NPC1 PSAP
4 lipid droplet GO:0005811 9.43 ABHD5 PNPLA2 PNPLA3
5 lysosomal lumen GO:0043202 9.28 ARSA GALC GBA GLA HEXA LIPA

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.81 GALC GBA GLA HEXA
2 protein catabolic process GO:0030163 9.67 CLN3 PPT1 TPP1
3 lipid catabolic process GO:0016042 9.65 GALC LIPA PNPLA2 PNPLA3 PPT1
4 ceramide biosynthetic process GO:0046513 9.61 GBA SMPD2
5 sterol metabolic process GO:0016125 9.6 CYP27A1 LIPA
6 triglyceride catabolic process GO:0019433 9.59 PNPLA2 PNPLA3
7 low-density lipoprotein particle clearance GO:0034383 9.58 LIPA NPC1
8 lipid droplet organization GO:0034389 9.58 PNPLA2 PNPLA3
9 lysosome organization GO:0007040 9.58 CLN3 PPT1 TPP1
10 response to pH GO:0009268 9.57 ARSA GBA
11 acylglycerol acyl-chain remodeling GO:0036155 9.56 PNPLA2 PNPLA3
12 glycoside catabolic process GO:0016139 9.55 GBA3 GLA
13 lysosomal lumen acidification GO:0007042 9.54 CLN3 PPT1
14 lipid homeostasis GO:0055088 9.54 ABHD5 PNPLA2 PNPLA3
15 positive regulation of triglyceride catabolic process GO:0010898 9.52 ABHD5 PNPLA2
16 membrane raft organization GO:0031579 9.48 NPC1 PPT1
17 negative regulation of sequestering of triglyceride GO:0010891 9.46 ABHD5 PNPLA2
18 sphingolipid metabolic process GO:0006665 9.46 GALC GBA PSAP SMPD2
19 sphingomyelin metabolic process GO:0006684 9.43 CLN3 SMPD2
20 glycosphingolipid metabolic process GO:0006687 9.43 ARSA GALC GBA3 GLA HEXA PSAP
21 lipid metabolic process GO:0006629 9.36 ABHD5 GALC GBA LIPA NPC1 PNPLA2
22 glycosylceramide catabolic process GO:0046477 9.32 GBA3 GLA

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

# Name GO ID Score Top Affiliating Genes
1 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 9.46 ABHD5 PNPLA3
2 lipoprotein lipase activity GO:0004465 9.43 PNPLA2 PNPLA3
3 beta-galactosidase activity GO:0004565 9.4 GBA3 PSAP
4 hydrolase activity GO:0016787 9.4 ABHD5 ARSA GALC GBA GLA HEXA
5 lysophosphatidic acid acyltransferase activity GO:0042171 9.37 ABHD5 PNPLA3
6 triglyceride lipase activity GO:0004806 9.33 ABHD5 PNPLA2 PNPLA3
7 glucosylceramidase activity GO:0004348 9.32 GBA GBA3
8 acylglycerol O-acyltransferase activity GO:0016411 9.26 PNPLA2 PNPLA3
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 GALC GBA GLA HEXA

Sources for Lipid Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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