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MCID: LPD009
MIFTS: 52

Lipid Storage Disease

Categories: Immune diseases, Metabolic diseases, Neuronal 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 74
Inborn Lipid Storage Disorder 12
Lipid Storage Diseases 55
Lipoid Storage Diseas 12
Lipidoses 45

Classifications:

MalaCards categories:
Global: Metabolic diseases
Anatomical: Neuronal diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:9455
ICD9CM 36 272.7 272.8
MeSH 45 D008064
SNOMED-CT 69 10741005 11455007
ICD10 34 E75.6
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Summaries for Lipid Storage Disease

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NINDS : 55 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 liver, bone and brain, and related phenotypes are no effect and homeostasis/metabolism

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 : 77 A lipid storage disorder (or lipidosis) is any one of a group of inherited metabolic disorders in which... 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 73)
# Related Disease Score Top Affiliating Genes
1 neutral lipid storage disease with myopathy 35.0 CRACR2B PNPLA2
2 chanarin-dorfman syndrome 34.0 ABHD5 PNPLA2
3 metachromatic leukodystrophy 32.3 ARSA GALC PSAP
4 sphingolipidosis 32.1 ARSA GALC GBA GLA NPC1 PSAP
5 gaucher disease, type i 32.0 CHIT1 GBA PSAP
6 niemann-pick disease 31.9 CHIT1 GBA NPC1 PSAP
7 leukodystrophy 30.8 ARSA GALC PSAP
8 gaucher's disease 29.9 ARSA CHIT1 GBA PSAP
9 inherited metabolic disorder 29.6 ARSA CLN3 GBA GLA NPC1 PNPLA3
10 retinal dystrophy in systemic or cerebroretinal lipidoses 12.1
11 cerebrotendinous xanthomatosis 11.6
12 xanthomatosis 11.4
13 lipoid proteinosis of urbach and wiethe 11.4
14 fatty liver disease 11.4
15 lysosomal acid lipase deficiency 11.4
16 farber lipogranulomatosis 11.2
17 niemann-pick disease, type c1 11.1
18 adrenoleukodystrophy 11.1
19 fabry disease 11.1
20 lysosomal and lipase deficiency 11.1
21 mucolipidosis 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 muscle disorders 10.5
27 infantile krabbe disease 10.5 GALC PSAP
28 metachromatic leukodystrophy, late infantile form 10.4 ARSA PSAP
29 metachromatic leukodystrophy, juvenile form 10.4 ARSA PSAP
30 chitotriosidase deficiency 10.3 CHIT1 GBA
31 metachromatic leukodystrophy, adult form 10.3 ARSA PSAP
32 inclusion-cell disease 10.3 ARSA PSAP
33 gaucher disease, type ii 10.3 GBA PSAP
34 ichthyosis 10.3
35 ceroid lipofuscinosis, neuronal, 10 10.3 CLN3 CLN5
36 ceroid lipofuscinosis, neuronal, 7 10.3 CLN3 CLN5
37 adult neuronal ceroid lipofuscinosis 10.3 PPT1 PSAP TPP1
38 nonalcoholic steatohepatitis 10.3 GPT PNPLA3
39 ceroid lipofuscinosis, neuronal, 11 10.2 CLN3 CLN5 PPT1
40 mucopolysaccharidoses 10.2
41 krabbe disease 10.2 ARSA CHIT1 GALC PSAP
42 niemann-pick disease, type a 10.2 CHIT1 NPC1
43 pancreatitis 10.1
44 ceroid lipofuscinosis, neuronal, 1 10.1 CLN3 CLN5 PPT1 TPP1
45 ceroid lipofuscinosis, neuronal, 3 10.1 CLN3 CLN5 PPT1 TPP1
46 ceroid storage disease 10.1 CLN3 CLN5 PPT1 TPP1
47 ceroid lipofuscinosis, neuronal, 2 10.1 CLN3 CLN5 PPT1 TPP1
48 tay-sachs disease 10.0
49 demyelinating disease 10.0
50 aminoacidopathies 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
Sources

Symptoms & Phenotypes for Lipid Storage Disease

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GenomeRNAi Phenotypes related to Lipid Storage Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABHD5 ARSA CHIT1 CLN3 CLN5 CRACR2B

MGI Mouse Phenotypes related to Lipid Storage Disease:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 ABHD5 ARSA CLN3 CYP27A1 GALC GBA
2 liver/biliary system MP:0005370 10.22 ABHD5 CLN3 CYP27A1 GALC GBA GLA
3 behavior/neurological MP:0005386 10.21 ARSA CLN3 GALC GBA GLA LIPA
4 hematopoietic system MP:0005397 10.18 ABHD5 ARSA CLN3 CYP27A1 GALC GBA
5 immune system MP:0005387 10.17 ABHD5 ARSA CHIT1 CLN3 GALC GBA
6 cardiovascular system MP:0005385 10.15 ABHD5 CYP27A1 GALC GBA GLA LIPA
7 mortality/aging MP:0010768 10.15 ABHD5 CLN3 GALC GBA GLA LIPA
8 nervous system MP:0003631 10.03 ARSA CLN3 CLN5 CYP27A1 GALC GBA
9 muscle MP:0005369 9.87 ABHD5 GALC GLA PNPLA2 PPT1 PSAP
10 renal/urinary system MP:0005367 9.7 CLN3 CYP27A1 GALC GLA LIPA PPT1
11 skeleton MP:0005390 9.5 ABHD5 CYP27A1 GALC GBA GPT PPT1
12 vision/eye MP:0005391 9.17 CLN3 CLN5 GALC GLA NPC1 PPT1
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 198)
# 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
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
8
Calcium Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 7440-70-2 271
9
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
10
1-Deoxynojirimycin Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19130-96-2 1374
11 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
13 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
14 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
15 Clofibric Acid Phase 4 882-09-7
16 Expectorants Phase 4,Phase 1,Phase 2
17 Free Radical Scavengers Phase 4,Phase 1,Phase 2
18 Antidotes Phase 4,Phase 1,Phase 2
19 Protective Agents Phase 4,Phase 1,Phase 2
20 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Respiratory System Agents Phase 4,Phase 1,Phase 2
22 Antioxidants Phase 4,Phase 1,Phase 2
23 N-monoacetylcystine Phase 4,Phase 1,Phase 2
24 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
25 Calciferol Phase 4,Phase 2,Not Applicable
26 Bone Density Conservation Agents Phase 4,Phase 2,Not Applicable
27 Vitamins Phase 4,Phase 3,Phase 2,Not Applicable
28 Hormones Phase 4,Phase 2,Not Applicable
29 Calcium, Dietary Phase 4,Phase 2,Not Applicable
30 Ergocalciferols Phase 4,Not Applicable
31 Nutrients Phase 4,Phase 3,Phase 2,Not Applicable
32 Vitamin D2 Phase 4,Not Applicable
33 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable
34 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable
35 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Hepatitis C Antibodies Phase 4
41 Ledipasvir, sofosbuvir drug combination Phase 4
42
Atorvastatin Approved Phase 3,Not Applicable 134523-00-5 60823
43
Fenofibrate Approved Phase 3,Not Applicable 49562-28-9 3339
44
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
45
Simvastatin Approved Phase 3 79902-63-9 54454
46
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
47
Coal tar Approved Phase 3,Phase 2 8007-45-2
48
Eliglustat Approved Phase 3,Phase 2,Phase 1,Not Applicable 491833-29-5 23652731
49
tannic acid Approved Phase 3,Phase 2 1401-55-4
50
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 386)
# 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 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
10 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
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 Safety and Efficacy of Miglustat in Chinese NPC Patients Not yet recruiting NCT03910621 Phase 4 Miglustat
20 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
21 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
22 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)
23 A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Unknown status NCT01757184 Phase 3 SBC-102 [sebelipase alfa] (1 mg/kg);Placebo
24 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
25 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
26 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
27 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
28 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
29 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
30 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
31 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
32 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
33 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
34 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
35 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
36 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
37 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
38 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
39 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
40 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
41 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
42 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
43 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
44 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
45 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
46 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
47 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
48 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)
49 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
50 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3

Search NIH Clinical Center for Lipid Storage Disease

Cochrane evidence based reviews: lipidoses

Sources

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:

42
Liver, Bone, Brain, Spleen, Bone Marrow, Kidney, Eye
Sources

Publications for Lipid Storage Disease

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Articles related to Lipid Storage Disease:

(show top 50) (show all 120)
# Title Authors Year
1
Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy. ( 30738494 )
2019
2
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. ( 29440550 )
2018
3
Pulmonary functions and sleep-related breathing disorders in lipid storage disease. ( 29497949 )
2018
4
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China. ( 29539587 )
2018
5
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant. ( 29779757 )
2018
6
Excessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney. ( 30073645 )
2018
7
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy. ( 30223778 )
2018
8
Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis. ( 30352762 )
2018
9
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
10
Muscle MRI in neutral lipid storage disease (NLSD). ( 28503705 )
2017
11
Erratum to: Muscle MRI in neutral lipid storage disease (NLSD). ( 28608302 )
2017
12
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
13
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation. ( 26600210 )
2016
14
Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A. ( 25363365 )
2015
15
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings. ( 25956450 )
2015
16
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. ( 24836204 )
2014
17
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
18
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. ( 23146629 )
2013
19
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. ( 23333026 )
2013
20
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
21
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. ( 23824421 )
2013
22
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. ( 23867907 )
2013
23
Characteristic scattergram of white blood cells obtained using the Pentra MS CRP hematology analyzer in a patient with neutral lipid storage disease. ( 24370872 )
2013
24
Neutral lipid storage disease with unusual presentation: report of three cases. ( 21575048 )
2012
25
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. ( 22491199 )
2012
26
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. ( 22832386 )
2012
27
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. ( 22964912 )
2012
28
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. ( 21695016 )
2011
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
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. ( 21073837 )
2010
32
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. ( 19696711 )
2009
33
Jordans' anomaly in a new neutral lipid storage disease. ( 18429052 )
2009
34
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. ( 19401457 )
2009
35
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. ( 18445677 )
2008
36
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. ( 18952067 )
2008
37
[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. ( 18483801 )
2008
38
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. ( 17187067 )
2007
39
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. ( 17657808 )
2007
40
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). ( 16741516 )
2006
41
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. ( 15967942 )
2005
42
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. ( 15944902 )
2005
43
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. ( 11829492 )
2002
44
Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. ( 11997500 )
2002
45
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. ( 11251597 )
2001
46
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. ( 10745395 )
2000
47
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. ( 10573364 )
1999
48
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. ( 9469583 )
1998
49
Neutral lipid storage disease with fatty liver and cholestasis. ( 9360211 )
1997
50
Neutral lipid storage disease--response to dietary intervention. ( 9301368 )
1997
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 67
Show member pathways
 13.51 ABHD5 ARSA CHIT1 CYP27A1 GALC GBA
2
Sphingolipid metabolism 67 38 1
Show member pathways
 12.04 ARSA GALC GBA GLA PSAP SMPD2
3
Statin Pathway 1
Show member pathways
 11.62 CYP27A1 LIPA NPC1
4
Lysosome 38
11.45 ARSA CLN3 CLN5 GALC GBA GLA
5
Glycerolipid metabolism 38
11.22 GLA PNPLA2 PNPLA3
6
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) 23
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 9.91 ARSA CLN5 GBA GLA GPT NPC1
2 lysosomal lumen GO:0043202 9.56 ARSA GALC GBA GLA LIPA PPT1
3 lysosomal membrane GO:0005765 9.55 CLN3 CLN5 GBA NPC1 PSAP
4 lipid droplet GO:0005811 9.5 ABHD5 PNPLA2 PNPLA3
5 lysosome GO:0005764 9.4 ARSA CHIT1 CLN3 CLN5 GALC GBA

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.81 CHIT1 GALC GBA GLA
2 lipid catabolic process GO:0016042 9.72 GALC LIPA PNPLA2 PNPLA3 PPT1
3 protein catabolic process GO:0030163 9.67 CLN3 CLN5 PPT1 TPP1
4 lysosome organization GO:0007040 9.61 CLN3 PPT1 TPP1
5 ceramide biosynthetic process GO:0046513 9.59 GBA SMPD2
6 sterol metabolic process GO:0016125 9.58 CYP27A1 LIPA
7 triglyceride catabolic process GO:0019433 9.58 PNPLA2 PNPLA3
8 lipid homeostasis GO:0055088 9.58 ABHD5 PNPLA2 PNPLA3
9 low-density lipoprotein particle clearance GO:0034383 9.57 LIPA NPC1
10 lipid droplet organization GO:0034389 9.56 PNPLA2 PNPLA3
11 sphingolipid metabolic process GO:0006665 9.56 GALC GBA PSAP SMPD2
12 response to pH GO:0009268 9.55 ARSA GBA
13 acylglycerol acyl-chain remodeling GO:0036155 9.54 PNPLA2 PNPLA3
14 positive regulation of triglyceride catabolic process GO:0010898 9.52 ABHD5 PNPLA2
15 membrane raft organization GO:0031579 9.49 NPC1 PPT1
16 negative regulation of sequestering of triglyceride GO:0010891 9.48 ABHD5 PNPLA2
17 sphingomyelin metabolic process GO:0006684 9.46 CLN3 SMPD2
18 lipid metabolic process GO:0006629 9.36 ABHD5 GALC GBA LIPA NPC1 PNPLA2
19 lysosomal lumen acidification GO:0007042 9.33 CLN3 CLN5 PPT1
20 glycosphingolipid metabolic process GO:0006687 9.26 ARSA GALC GLA PSAP

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.4 ABHD5 ARSA CHIT1 GALC GBA GLA
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.37 CHIT1 GLA
3 triglyceride lipase activity GO:0004806 9.33 ABHD5 PNPLA2 PNPLA3
4 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 9.32 ABHD5 PNPLA3
5 lysophosphatidic acid acyltransferase activity GO:0042171 9.26 ABHD5 PNPLA3
6 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 CHIT1 GALC GBA GLA
Sources

Sources for Lipid Storage Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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