MCID: LPD009
MIFTS: 53

Lipid Storage Disease

Categories: Metabolic diseases

Aliases & Classifications for Lipid Storage Disease

MalaCards integrated aliases for Lipid Storage Disease:

Name: Lipid Storage Disease 12 14
Lipoidosis 12 69
Inborn Lipid Storage Disorder 12
Lipid Storage Diseases 50
Lipoid Storage Diseas 12
Lipidoses 41

Classifications:



Summaries for Lipid Storage Disease

NINDS : 50 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 membranes found within and between each cell and in the myelin sheath that coats and protects the nerves.  Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.  Lipid storage diseases are inherited from one or both parents who carry a defective gene.   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, hypersensitivity 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 metachromatic leukodystrophy and niemann-pick 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 Bezafibrate and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, 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 : 72 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 66)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 32.0 ARSA GALC HEXA PSAP
2 niemann-pick disease 31.8 GBA NPC1 PSAP
3 gaucher's disease 31.8 ARSA GBA GBA3 PSAP
4 tay-sachs disease 30.3 ARSA HEXA PSAP
5 neutral lipid storage disease with myopathy 12.7
6 chanarin-dorfman syndrome 12.2
7 retinal dystrophy in systemic or cerebroretinal lipidoses 11.9
8 cerebrotendinous xanthomatosis 11.4
9 xanthomatosis 11.3
10 lysosomal acid lipase deficiency 11.2
11 lipoid proteinosis of urbach and wiethe 11.2
12 farber lipogranulomatosis 10.9
13 adrenoleukodystrophy 10.9
14 fabry disease 10.9
15 cholesterol ester storage disease 10.9
16 fatty liver disease 10.9
17 lipidosis with triglycerid storage disease 10.9
18 myoclonus 10.9
19 infantile krabbe disease 10.6 GALC PSAP
20 metachromatic leukodystrophy, adult form 10.5 ARSA PSAP
21 metachromatic leukodystrophy, late infantile form 10.5 ARSA PSAP
22 metachromatic leukodystrophy, juvenile form 10.5 ARSA PSAP
23 gaucher disease, type ii 10.5 GBA PSAP
24 gaucher disease, type iii 10.5 GBA PSAP
25 cerebral lipidosis 10.4 GLB1 HEXA
26 ceroid storage disease 10.4 CLN3 TPP1
27 krabbe disease 10.4 ARSA GALC PSAP
28 adult neuronal ceroid lipofuscinosis 10.4 PPT1 PSAP TPP1
29 gaucher disease, type i 10.4 GBA PSAP
30 gangliosidosis gm1 10.4 GLB1 HEXA PSAP
31 mucolipidosis iv 10.3 GLB1 HEXA PSAP
32 myopathy 10.3
33 gangliosidosis gm2 10.3 GLB1 HEXA
34 inclusion-cell disease 10.3 ARSA GLB1 PSAP
35 glycoproteinosis 10.3 GLB1 PSAP
36 scheie syndrome 10.3 GLA GLB1 HEXA
37 ceroid lipofuscinosis, neuronal, 1 10.3 CLN3 PPT1 TPP1
38 ceroid lipofuscinosis, neuronal, 11 10.3 CLN3 ENSG00000261832 PPT1
39 ceroid lipofuscinosis, neuronal, 3 10.3 CLN3 PPT1 TPP1
40 ceroid lipofuscinosis, neuronal, 2 10.3 CLN3 PPT1 TPP1
41 leukodystrophy 10.3 ARSA GALC PSAP
42 neuronal ceroid-lipofuscinoses 10.2 CLN3 PPT1 PSAP TPP1
43 mucopolysaccharidosis, type vii 10.2 GLB1 HEXA
44 ichthyosis 10.2
45 sandhoff disease 10.2 HEXA NPC1
46 non-langerhans-cell histiocytosis 10.0 HEXA NPC1
47 neuronal ceroid lipofuscinosis 10.0 CLN3 ENSG00000261832 PPT1 PSAP TPP1
48 sitosterolemia 9.7
49 body mass index quantitative trait locus 11 9.7
50 body mass index quantitative trait locus 9 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

Symptoms & Phenotypes for Lipid Storage Disease

MGI Mouse Phenotypes related to Lipid Storage Disease:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 CYP27A1 ABHD5 GALC ARSA CLN3 GBA
2 behavior/neurological MP:0005386 10.3 GALC ARSA GBA CLN3 HEXA GLA
3 growth/size/body region MP:0005378 10.22 GBA ABHD5 GALC PNPLA2 HEXA GLA
4 liver/biliary system MP:0005370 10.21 GLA ABHD5 GALC CLN3 GBA CYP27A1
5 hematopoietic system MP:0005397 10.2 CYP27A1 ABHD5 GALC ARSA GBA CLN3
6 cellular MP:0005384 10.19 GBA ABHD5 GALC CLN3 GLA GLB1
7 mortality/aging MP:0010768 10.17 ABHD5 GALC GBA CLN3 HEXA GLA
8 cardiovascular system MP:0005385 10.16 CYP27A1 ABHD5 GALC GBA PNPLA2 GLA
9 immune system MP:0005387 10.14 ABHD5 GALC ARSA GBA CLN3 GLA
10 nervous system MP:0003631 9.97 CYP27A1 GALC ARSA CLN3 GBA GLA
11 muscle MP:0005369 9.8 ABHD5 GALC PNPLA2 GLA TPP1 PPT1
12 renal/urinary system MP:0005367 9.61 CYP27A1 GALC CLN3 GLA LIPA GLB1
13 skeleton MP:0005390 9.28 CYP27A1 ABHD5 GALC GBA HEXA NPC1

Drugs & Therapeutics for Lipid Storage Disease

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

(show top 50) (show all 182)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1 72599-27-0 51634
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 19130-96-2 1374
7 Anticholesteremic Agents Phase 4,Phase 3,Phase 2
8 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
9 Antimetabolites Phase 4,Phase 3,Phase 2
10 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
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
14 N-monoacetylcystine Phase 4,Phase 1,Phase 2
15 Trace Elements Phase 4,Phase 3,Phase 2
16 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
17 Vitamins Phase 4,Phase 3,Phase 2
18 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Antidotes Phase 4,Phase 1,Phase 2
21 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Expectorants Phase 4,Phase 1,Phase 2
23 Protective Agents Phase 4,Phase 1,Phase 2
24 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Antioxidants Phase 4,Phase 1,Phase 2
26 Bone Density Conservation Agents Phase 4,Phase 2
27 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1
28 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
29
Fenofibrate Approved Phase 3 49562-28-9 3339
30
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
31
Simvastatin Approved Phase 3 79902-63-9 54454
32
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
33
Busulfan Approved, Investigational Phase 2, 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
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
41
Nicotinamide Approved, Investigational, Nutraceutical Phase 3 98-92-0 936
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 Atorvastatin Calcium Phase 3 134523-03-8
45 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
46 Liver Extracts Phase 2, Phase 3, Phase 1
47 Calcium, Dietary Phase 3,Phase 2
48 Prednisolone acetate Phase 2, Phase 3
49 Alkylating Agents Phase 2, Phase 3
50 Methylprednisolone acetate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 345)

# 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 Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4 Agalsidase beta (recombinant form)
9 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
10 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
11 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
12 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
13 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
14 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
15 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
16 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
17 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
18 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
19 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
20 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)
21 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
22 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
23 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
24 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
25 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
26 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
27 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
28 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
29 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
30 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
31 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3 migalastat HCl 150mg
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 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

Genetic Tests for Lipid Storage Disease

Anatomical Context for Lipid Storage Disease

MalaCards organs/tissues related to Lipid Storage Disease:

38
Bone, Liver, Bone Marrow, Brain, Spleen, Kidney, Monocytes

Publications for Lipid Storage Disease

Articles related to Lipid Storage Disease:

(show top 50) (show all 77)
# Title Authors Year
1
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. ( 29440550 )
2018
2
Muscle MRI in neutral lipid storage disease (NLSD). ( 28503705 )
2017
3
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
4
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
5
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation. ( 26600210 )
2016
6
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings. ( 25956450 )
2015
7
Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A. ( 25363365 )
2014
8
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
9
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. ( 24836204 )
2014
10
Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease. ( 24370872 )
2013
11
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. ( 23146629 )
2013
12
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
13
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. ( 23867907 )
2013
14
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. ( 23333026 )
2013
15
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. ( 23824421 )
2013
16
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. ( 22491199 )
2012
17
Neutral lipid storage disease with unusual presentation: report of three cases. ( 21575048 )
2012
18
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. ( 22832386 )
2012
19
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. ( 22964912 )
2012
20
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. ( 21695016 )
2011
21
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. ( 20471263 )
2010
22
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. ( 21073837 )
2010
23
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. ( 21045422 )
2010
24
Jordans' anomaly in a new neutral lipid storage disease. ( 18429052 )
2009
25
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. ( 19401457 )
2009
26
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. ( 19696711 )
2009
27
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. ( 18952067 )
2008
28
[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. ( 18483801 )
2008
29
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. ( 18445677 )
2008
30
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. ( 17187067 )
2007
31
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. ( 17657808 )
2007
32
[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
33
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). ( 16741516 )
2006
34
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. ( 15944902 )
2005
35
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. ( 15967942 )
2005
36
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. ( 11829492 )
2002
37
Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. ( 11997500 )
2002
38
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. ( 11251597 )
2001
39
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. ( 10745395 )
2000
40
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. ( 10573364 )
1999
41
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. ( 9469583 )
1998
42
Neutral lipid storage disease with fatty liver and cholestasis. ( 9360211 )
1997
43
Lipid storage disease. ( 9241629 )
1997
44
Neutral lipid storage disease--response to dietary intervention. ( 9301368 )
1997
45
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. ( 8663220 )
1996
46
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. ( 8181512 )
1994
47
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. ( 7955510 )
1994
48
Neutral lipid storage disease. Case report and lipid studies. ( 8186119 )
1994
49
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. ( 8110183 )
1994
50
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. ( 2001430 )
1991

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 9.9 ARSA GALC GBA GLA GLB1 HEXA
2 lysosome GO:0005764 9.73 ARSA CLN3 GALC GBA GLA GLB1
3 lysosomal membrane GO:0005765 9.67 CLN3 GBA NPC1 PSAP
4 azurophil granule lumen GO:0035578 9.5 ARSA GLA GLB1
5 lipid droplet GO:0005811 9.43 ABHD5 PNPLA2 PNPLA3
6 lysosomal lumen GO:0043202 9.32 ARSA GALC GBA GLA GLB1 HEXA

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.86 GBA3 GLA GLB1 HEXA
2 metabolic process GO:0008152 9.76 ARSA GALC GBA GLA GLB1 HEXA
3 lipid catabolic process GO:0016042 9.72 GALC LIPA PNPLA2 PNPLA3 PPT1
4 lipid metabolic process GO:0006629 9.7 ABHD5 GALC GBA LIPA NPC1 PNPLA2
5 ceramide biosynthetic process GO:0046513 9.61 GBA SMPD2
6 associative learning GO:0008306 9.61 CLN3 PPT1
7 protein catabolic process GO:0030163 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 lysosome organization GO:0007040 9.58 CLN3 PPT1 TPP1
13 keratan sulfate catabolic process GO:0042340 9.57 GLB1 HEXA
14 sphingolipid metabolic process GO:0006665 9.56 GALC GBA PSAP SMPD2
15 positive regulation of triglyceride catabolic process GO:0010898 9.55 ABHD5 PNPLA2
16 lysosomal lumen acidification GO:0007042 9.54 CLN3 PPT1
17 acylglycerol acyl-chain remodeling GO:0036155 9.52 PNPLA2 PNPLA3
18 glycoside catabolic process GO:0016139 9.51 GBA3 GLA
19 sphingomyelin metabolic process GO:0006684 9.49 CLN3 SMPD2
20 negative regulation of sequestering of triglyceride GO:0010891 9.48 ABHD5 PNPLA2
21 membrane raft organization GO:0031579 9.46 NPC1 PPT1
22 glycosylceramide catabolic process GO:0046477 9.37 GBA3 GLA
23 glycosphingolipid metabolic process GO:0006687 9.28 ARSA GALC GBA GBA3 GLA GLB1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.48 GLA GLB1
2 lipoprotein lipase activity GO:0004465 9.46 PNPLA2 PNPLA3
3 hydrolase activity GO:0016787 9.44 ABHD5 ARSA GALC GBA GLA GLB1
4 lysophosphatidic acid acyltransferase activity GO:0042171 9.43 ABHD5 PNPLA3
5 triglyceride lipase activity GO:0004806 9.43 ABHD5 PNPLA2 PNPLA3
6 galactoside binding GO:0016936 9.4 GLA GLB1
7 glucosylceramidase activity GO:0004348 9.37 GBA GBA3
8 hydrolase activity, acting on glycosyl bonds GO:0016798 9.35 GALC GBA GLA GLB1 HEXA
9 beta-galactosidase activity GO:0004565 9.33 GBA3 GLB1 PSAP
10 acylglycerol O-acyltransferase activity GO:0016411 9.32 PNPLA2 PNPLA3

Sources for Lipid Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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