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MCID: LPD009
MIFTS: 51

Lipid Storage Disease

Categories: Metabolic diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Lipid Storage Disease

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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:

MalaCards categories:
Global: Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Summaries for Lipid Storage Disease

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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 gaucher's disease. 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 Cysteamine and Miglustat have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, 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...

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Related Diseases for Lipid Storage Disease

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 neutral lipid storage disease with myopathy 35.3 CRACR2B PNPLA2
2 gaucher's disease 32.5 ARSA GBA GBA3 PSAP
3 metachromatic leukodystrophy 32.2 ARSA GALC HEXA PSAP
4 niemann-pick disease 32.1 GBA NPC1 PSAP
5 tay-sachs disease 30.6 ARSA HEXA PSAP
6 chanarin-dorfman syndrome 12.3
7 retinal dystrophy in systemic or cerebroretinal lipidoses 11.9
8 cerebrotendinous xanthomatosis 11.4
9 xanthomatosis 11.3
10 fatty liver disease 11.2
11 lipoid proteinosis of urbach and wiethe 11.2
12 lysosomal acid lipase deficiency 11.2
13 infantile krabbe disease 10.9 GALC PSAP
14 farber lipogranulomatosis 10.9
15 niemann-pick disease, type c1 10.9
16 adrenoleukodystrophy 10.9
17 fabry disease 10.9
18 lysosomal and lipase deficiency 10.9
19 cholesterol ester storage disease 10.9
20 lipidosis with triglycerid storage disease 10.9
21 myoclonus 10.9
22 metachromatic leukodystrophy, adult form 10.8 ARSA PSAP
23 gaucher disease, type ii 10.8 GBA PSAP
24 metachromatic leukodystrophy, late infantile form 10.8 ARSA PSAP
25 metachromatic leukodystrophy, juvenile form 10.8 ARSA PSAP
26 gaucher disease, type iii 10.7 GBA PSAP
27 gangliosidosis gm1 10.7 HEXA PSAP
28 krabbe disease 10.6 ARSA GALC PSAP
29 inclusion-cell disease 10.6 ARSA PSAP
30 adult neuronal ceroid lipofuscinosis 10.6 PPT1 PSAP TPP1
31 ceroid storage disease 10.5 CLN3 PPT1 TPP1
32 gaucher disease, type i 10.5 GBA PSAP
33 ceroid lipofuscinosis, neuronal, 3 10.5 CLN3 PPT1 TPP1
34 visual epilepsy 10.5 CLN3 ENSG00000261832 PPT1
35 ceroid lipofuscinosis, neuronal, 1 10.5 CLN3 PPT1 TPP1
36 ceroid lipofuscinosis, neuronal, 11 10.5 CLN3 ENSG00000261832 PPT1
37 myopathy 10.4
38 neuronal ceroid-lipofuscinoses 10.3 CLN3 PPT1 PSAP TPP1
39 leukodystrophy 10.3 ARSA GALC PSAP
40 non-langerhans-cell histiocytosis 10.3 HEXA NPC1
41 ceroid lipofuscinosis, neuronal, 2 10.2 CLN3 ENSG00000261832 PPT1 TPP1
42 ichthyosis 10.2
43 internuclear ophthalmoplegia 10.1 GBA HEXA
44 neuronal ceroid lipofuscinosis 10.0 CLN3 ENSG00000261832 PPT1 PSAP TPP1
45 trehalase deficiency 9.7 HEXA NPC1 PNPLA2 PPT1 PSAP TPP1
46 sitosterolemia 9.7
47 combined saposin deficiency 9.7
48 dilated cardiomyopathy 9.7
49 keratopathy 9.7
50 cholestasis 9.7

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
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Symptoms & Phenotypes for Lipid Storage Disease

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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 GLA CYP27A1 ABHD5 GALC ARSA GBA
2 behavior/neurological MP:0005386 10.25 GLA GALC ARSA GBA CLN3 TPP1
3 liver/biliary system MP:0005370 10.22 ABHD5 GALC GBA CLN3 GLA CYP27A1
4 hematopoietic system MP:0005397 10.18 CYP27A1 ABHD5 GALC ARSA GBA CLN3
5 mortality/aging MP:0010768 10.18 GLA ABHD5 GALC GBA CLN3 SREBF1
6 cardiovascular system MP:0005385 10.15 CYP27A1 ABHD5 GALC GBA PSAP NPC1
7 immune system MP:0005387 10.13 ABHD5 GALC ARSA GBA CLN3 PSAP
8 nervous system MP:0003631 10.03 GLA CYP27A1 GALC ARSA GBA CLN3
9 muscle MP:0005369 9.87 ABHD5 GALC TPP1 PSAP GLA PNPLA2
10 renal/urinary system MP:0005367 9.76 GLA CYP27A1 GALC CLN3 HEXA PPT1
11 skeleton MP:0005390 9.56 CYP27A1 ABHD5 GALC GBA PSAP NPC1
12 vision/eye MP:0005391 9.17 GALC CLN3 PSAP NPC1 GLA HEXA
Sources

Drugs & Therapeutics for Lipid Storage Disease

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

(show top 50) (show all 183)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
2
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 72599-27-0 51634
3
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
4
Acetylcysteine Approved, Investigational Phase 4,Phase 1,Phase 2 616-91-1 12035
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
6
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19130-96-2 1374
7 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
8 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
11 Clofibric Acid Phase 4 882-09-7
12 Respiratory System Agents Phase 4,Phase 1,Phase 2
13 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable
14 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 N-monoacetylcystine Phase 4,Phase 1,Phase 2
16 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable
17 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Vitamins Phase 4,Phase 3,Phase 2,Not Applicable
19 Expectorants Phase 4,Phase 1,Phase 2
20 Antidotes Phase 4,Phase 1,Phase 2
21 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Antioxidants Phase 4,Phase 1,Phase 2
24 Protective Agents Phase 4,Phase 1,Phase 2
25 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
27 Bone Density Conservation Agents Phase 4,Phase 2,Not Applicable
28 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29
Fenofibrate Approved Phase 3,Not Applicable 49562-28-9 3339
30
Simvastatin Approved Phase 3 79902-63-9 54454
31
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
32
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
33
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3 55-98-1 2478
34
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
35
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337
36
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
37
Eliglustat Approved Phase 3,Phase 2,Phase 1 491833-29-5 23652731
38
Altretamine Approved Phase 3 645-05-6 2123
39
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
40
Nicotinamide Approved, Investigational, Nutraceutical Phase 3 98-92-0 936
41
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
42 tannic acid Approved, Nutraceutical Phase 3,Phase 2
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 59-30-3 6037
44
Torcetrapib Investigational Phase 3 262352-17-0 159325
45 Atorvastatin Calcium Phase 3,Not Applicable 134523-03-8
46 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3,Not Applicable
47 Liver Extracts Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
48 Calcium, Dietary Phase 3,Phase 2,Not Applicable
49 Prednisolone acetate Phase 2, Phase 3
50 Alkylating Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 354)
# 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 Phase 4 Study to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 Years Recruiting NCT02574286 Phase 4 Velaglucerase alfa
14 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
15 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
16 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
17 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
18 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
19 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)
20 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
21 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
22 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
23 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
24 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
25 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
26 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
27 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
28 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
29 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
30 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3 migalastat HCl 150mg
31 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
32 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
33 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
34 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
35 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
36 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
37 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
38 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
39 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
40 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
41 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
42 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
43 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
44 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)
45 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
46 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
47 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
48 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
49 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)
50 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 miglustat

Search NIH Clinical Center for Lipid Storage Disease

Cochrane evidence based reviews: lipidoses

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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:

41
Liver, Bone, Brain, Bone Marrow, Spleen, Kidney, Monocytes
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Publications for Lipid Storage Disease

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Articles related to Lipid Storage Disease:

(show top 50) (show all 80)
# 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
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
6
Muscle MRI in neutral lipid storage disease (NLSD). ( 28503705 )
2017
7
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
8
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation. ( 26600210 )
2016
9
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings. ( 25956450 )
2015
10
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
11
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. ( 24836204 )
2014
12
Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A. ( 25363365 )
2014
13
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. ( 23824421 )
2013
14
Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease. ( 24370872 )
2013
15
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. ( 23867907 )
2013
16
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. ( 23146629 )
2013
17
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
18
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. ( 23333026 )
2013
19
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. ( 22832386 )
2012
20
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. ( 22491199 )
2012
21
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. ( 22964912 )
2012
22
Neutral lipid storage disease with unusual presentation: report of three cases. ( 21575048 )
2012
23
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. ( 21695016 )
2011
24
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. ( 21073837 )
2010
25
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. ( 20471263 )
2010
26
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. ( 21045422 )
2010
27
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. ( 19696711 )
2009
28
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. ( 19401457 )
2009
29
Jordans' anomaly in a new neutral lipid storage disease. ( 18429052 )
2009
30
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. ( 18445677 )
2008
31
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. ( 18952067 )
2008
32
[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. ( 18483801 )
2008
33
[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
34
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. ( 17657808 )
2007
35
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. ( 17187067 )
2007
36
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). ( 16741516 )
2006
37
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. ( 15967942 )
2005
38
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. ( 15944902 )
2005
39
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. ( 11829492 )
2002
40
Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. ( 11997500 )
2002
41
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. ( 11251597 )
2001
42
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. ( 10745395 )
2000
43
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. ( 10573364 )
1999
44
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. ( 9469583 )
1998
45
Lipid storage disease. ( 9241629 )
1997
46
Neutral lipid storage disease--response to dietary intervention. ( 9301368 )
1997
47
Neutral lipid storage disease with fatty liver and cholestasis. ( 9360211 )
1997
48
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. ( 8663220 )
1996
49
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. ( 8181512 )
1994
50
Neutral lipid storage disease. Case report and lipid studies. ( 8186119 )
1994
Sources

Variations for Lipid Storage Disease

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Expression for Lipid Storage Disease

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

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.69 ABHD5 ARSA CYP27A1 GALC GBA GBA3
2
Sphingolipid metabolism 66 37 1
Show member pathways
 11.96 ARSA GALC GBA GBA3 GLA HEXA
3
Statin Pathway 1
Show member pathways
 11.65 CYP27A1 LIPA NPC1
4
Lysosome 37
11.45 ARSA CLN3 GALC GBA GLA HEXA
5
Glycerolipid metabolism 37
11.22 GLA PNPLA2 PNPLA3
6
Other glycan degradation 37
10.62 GBA HEXA
7
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) 22
Show member pathways
 10.47 LIPA NPC1
Sources

GO Terms for Lipid Storage Disease

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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 9.96 ARSA GALC GBA GLA HEXA LIPA
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 9.5 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 9.87 ARSA GALC GBA GLA HEXA PNPLA2
2 protein catabolic process GO:0030163 9.7 CLN3 PPT1 TPP1
3 lipid metabolic process GO:0006629 9.7 ABHD5 GALC GBA LIPA NPC1 PNPLA2
4 lipid catabolic process GO:0016042 9.65 GALC LIPA PNPLA2 PNPLA3 PPT1
5 lipid homeostasis GO:0055088 9.63 ABHD5 PNPLA2 PNPLA3
6 ceramide biosynthetic process GO:0046513 9.61 GBA SMPD2
7 lysosome organization GO:0007040 9.61 CLN3 PPT1 TPP1
8 triglyceride catabolic process GO:0019433 9.6 PNPLA2 PNPLA3
9 low-density lipoprotein particle clearance GO:0034383 9.59 LIPA NPC1
10 lipid particle organization GO:0034389 9.58 PNPLA2 PNPLA3
11 response to pH GO:0009268 9.58 ARSA GBA
12 acylglycerol acyl-chain remodeling GO:0036155 9.57 PNPLA2 PNPLA3
13 positive regulation of triglyceride catabolic process GO:0010898 9.56 ABHD5 PNPLA2
14 lysosomal lumen acidification GO:0007042 9.55 CLN3 PPT1
15 glycoside catabolic process GO:0016139 9.54 GBA3 GLA
16 sphingomyelin metabolic process GO:0006684 9.51 CLN3 SMPD2
17 membrane raft organization GO:0031579 9.49 NPC1 PPT1
18 negative regulation of sequestering of triglyceride GO:0010891 9.48 ABHD5 PNPLA2
19 sphingolipid metabolic process GO:0006665 9.46 GALC GBA PSAP SMPD2
20 glycosylceramide catabolic process GO:0046477 9.4 GBA3 GLA
21 sphingolipid catabolic process GO:0030149 9.37 PPT1 SMPD2
22 glycosphingolipid metabolic process GO:0006687 9.23 ARSA GALC GBA GBA3 GLA HEXA

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.76 ARSA GLA PNPLA2 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 acylglycerol O-acyltransferase activity GO:0016411 9.37 PNPLA2 PNPLA3
6 triglyceride lipase activity GO:0004806 9.33 ABHD5 PNPLA2 PNPLA3
7 lysophosphatidic acid acyltransferase activity GO:0042171 9.32 ABHD5 PNPLA3
8 glucosylceramidase activity GO:0004348 9.26 GBA GBA3
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 GALC GBA GLA HEXA
Sources

Sources for Lipid Storage Disease

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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