MCID: LPD009
MIFTS: 49

Lipid Storage Disease malady

Categories: Metabolic diseases

Aliases & Classifications for Lipid Storage Disease

Aliases & Descriptions for Lipid Storage Disease:

Name: Lipid Storage Disease 12 14
Lipoidosis 12 69
Inborn Lipid Storage Disorder 12
Lipid Storage Diseases 51
Lipoid Storage Diseas 12
Lipidoses 42

Classifications:



Summaries for Lipid Storage Disease

NINDS : 51 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 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 Zinc and Heparin have been mentioned in the context of this disorder. Affiliated tissues include liver, bone 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 : 71 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)
id Related Disease Score Top Affiliating Genes
1 neutral lipid storage disease with myopathy 12.6
2 chanarin-dorfman syndrome 12.1
3 retinal dystrophy in systemic or cerebroretinal lipidoses 11.8
4 cerebrotendinous xanthomatosis 11.3
5 xanthomatosis 11.2
6 metachromatic leukodystrophy 11.0
7 niemann-pick disease 10.8
8 cholesterol ester storage disease 10.8
9 gaucher's disease 10.8
10 farber lipogranulomatosis 10.8
11 wolman disease 10.8
12 fatty liver disease 10.8
13 myoclonus 10.8
14 fabry disease 10.8
15 adrenoleukodystrophy 10.8
16 serous or mucinous cystadenoma of childhood 10.3 GALC PSAP
17 epileptic encephalopathy, early infantile, 3 10.3 ABHD5 PNPLA2
18 diffuse large b-cell lymphoma of the central nervous system 10.3 ARSA PSAP
19 gaucher disease, type iii 10.3 GBA PSAP
20 gaucher disease, type iiic 10.3 GBA PSAP
21 follicular cholangitis and pancreatitis 10.3 ARSA PSAP
22 primary cutaneous anaplastic large cell lymphoma 10.3 ARSA PSAP
23 chronic pyelonephritis 10.3 GLB1 HEXA
24 hypertelorism, preauricular sinus, punctal pits, and deafness 10.3 ARSA GALC PSAP
25 myopathy 10.3
26 agenesis of the dorsal pancreas 10.2 PPT1 PSAP TPP1
27 47,xyy syndrome 10.2 NPC1 PSAP
28 osteochondrosis 10.2 GBA NPC1 PSAP
29 partial motor epilepsy 10.2 GLB1 HEXA PSAP
30 spondyloenchondrodysplasia with immune dysregulation 10.2 GLB1 HEXA PSAP
31 glioma susceptibility 4 10.2 ARSA HEXA PSAP
32 spina bifida occulta 10.2 ARSA GLB1 PSAP
33 myopia 23, autosomal recessive 10.2 GLA GLB1 HEXA
34 mitochondrial dna depletion syndrome 1 10.2 ARSA GALC HEXA PSAP
35 mitochondrial myopathy with diabetes 10.2 CLN5 CLN6
36 malignant fibrous histiocytoma of bone 10.2 GLB1 PSAP
37 hypothalamic disease 10.2 ARSA GBA HEXA PSAP
38 deafness and myopia 10.2 CLN5 CLN6
39 wilms tumor 2 10.2 CLN3 CLN5 CLN6
40 dementia - subcortical 10.2 CLN5 CLN6 PPT1
41 purpura 10.2 GLB1 HEXA
42 microcephaly 9, primary, autosomal recessive 10.2 CLN5 CLN6
43 deafness, autosomal recessive 26 10.2 CLN5 CLN6 PPT1
44 myopia 10 10.1 CLN5 CLN6
45 ichthyosis 10.1
46 bleeding disorder, platelet-type, 16, autosomal dominant 10.1 CLN3 CLN5 CLN6 PPT1
47 idiopathic progressive polyneuropathy 10.1 ARSA GALC PSAP
48 nasopharyngeal carcinoma 2 10.1 GLB1 PSAP
49 gaucher disease, type ii 10.1 ARSA GALC GBA GLA HEXA PSAP
50 medulloblastoma 10.0 CLN3 CLN5 CLN6 PPT1 TPP1

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:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 ABHD5 ARSA CLN3 CYP27A1 GALC GBA
2 behavior/neurological MP:0005386 10.35 ARSA CLN3 CLN6 GALC GBA GLA
3 hematopoietic system MP:0005397 10.26 GBA GLB1 LIPA NPC1 PPT1 PSAP
4 liver/biliary system MP:0005370 10.25 GBA GLA GLB1 HEXA LIPA NPC1
5 growth/size/body region MP:0005378 10.24 GLB1 HEXA LIPA NPC1 PNPLA2 PPT1
6 mortality/aging MP:0010768 10.24 CLN3 CLN6 GALC GBA GLA GLB1
7 cellular MP:0005384 10.21 ABHD5 CLN3 GALC GBA GLA GLB1
8 cardiovascular system MP:0005385 10.18 ABHD5 CYP27A1 GALC GBA GLA LIPA
9 immune system MP:0005387 10.17 GALC GBA GLA GLB1 LIPA NPC1
10 nervous system MP:0003631 10.13 CLN3 CLN5 CLN6 CYP27A1 GALC GBA
11 muscle MP:0005369 9.87 ABHD5 GALC GLA PNPLA2 PPT1 PSAP
12 renal/urinary system MP:0005367 9.81 CLN3 CYP27A1 GALC GLA GLB1 HEXA
13 skeleton MP:0005390 9.65 ABHD5 CLN6 CYP27A1 GALC GBA GLB1
14 vision/eye MP:0005391 9.28 CLN3 CLN5 CLN6 GALC GLA HEXA

Drugs & Therapeutics for Lipid Storage Disease

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

(show top 50) (show all 352)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4,Phase 1,Early Phase 1 7440-66-6 32051 23994
2
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Glyburide Approved Phase 4 10238-21-8 3488
5
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
6
Bezafibrate Approved Phase 4 41859-67-0 39042
7
Mycophenolic acid Approved Phase 4,Phase 2,Phase 1 24280-93-1 446541
8
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2,Phase 1 128794-94-5 5281078
9
Metformin Approved Phase 4 657-24-9 14219 4091
10
Warfarin Approved Phase 4 81-81-2 6691 54678486
11
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
12
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
13
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
14
Ziprasidone Approved Phase 4 146939-27-7 60854
15
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
16
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1 72599-27-0 51634
17
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
18
Apixaban Approved Phase 4 503612-47-3 10182969
19
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
20
Acetylcysteine Approved, Investigational Phase 4,Phase 1,Phase 2 616-91-1 12035
21
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
22
Mirabegron Approved Phase 4 223673-61-8
23
Coal tar Approved Phase 4 8007-45-2
24
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
25
Everolimus Approved Phase 4 159351-69-6 6442177
26
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
27
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
28
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
29
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
30 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2
31
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
32
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
33
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2,Phase 1 19130-96-2 1374
34 insulin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
35 Trace Elements Phase 4,Phase 3,Phase 2
36 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
37 Hormones Phase 4,Phase 3,Phase 2,Phase 1
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
39 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
40 Vitamins Phase 4,Phase 3,Phase 2
41 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
44 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1
45 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
47 Micronutrients Phase 4,Phase 3,Phase 2
48 Calcium, Dietary Phase 4,Phase 3,Phase 2
49 vitamin d Phase 4,Phase 2
50 Clofibric Acid Phase 4 882-09-7

Interventional clinical trials:

(show top 50) (show all 479)
id Name Status NCT ID Phase
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4
2 Study to Examine Insulin Resistance During Growth Hormone Treatment for Short Stature Due to Low Birthweight Unknown status NCT00120497 Phase 4
3 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
4 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4
5 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4
6 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
7 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
8 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
9 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4
10 A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4
11 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4
12 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4
13 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
14 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
15 Body Mass Index (BMI) and Metabolic Changes Following Switch to Aripiprazole From Olanzapine, Risperidone and Quetiapine Completed NCT00312598 Phase 4
16 Effect On Serum Cholesterol Of Dairy Products With Addition Of Esterified Phytosterols Completed NCT02644109 Phase 4
17 Insulin Resistance and Intramyocellular Lipid Content in Glucose Intolerant Subjects Receiving Rosiglitazone Completed NCT00746174 Phase 4
18 Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and Diet Completed NCT00118937 Phase 4
19 Ziprasidone Versus Olanzapine In The Treatment Of Schizophrenia. Completed NCT00239109 Phase 4
20 Ziprasidone for Improving Insulin Sensitivity in People With Schizophrenia Who Are at Risk for Diabetes Completed NCT00338949 Phase 4
21 Glibenclamide (Dose to be Titrated From Starting Dose of 5mg om) Plus Rosiglitazone 4mg om (Increased to 8mg om After 6 Months) and vs Glibenclamide (Dose to be Titrated With Starting Dose of 5mg om) Plus Placebo, Administered to Patients With Type 2 Diab Completed NCT01045590 Phase 4
22 Study Of The Blood Thinner, Apixaban, For Patients Who Have An Abnormal Heart Rhythm (Atrial Fibrillation) And Expected To Have Treatment To Put Them Back Into A Normal Heart Rhythm (Cardioversion) Completed NCT02100228 Phase 4
23 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
24 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4
25 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4
26 Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study Recruiting NCT00455104 Phase 4
27 A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants Recruiting NCT00230607 Phase 4
28 Exenatide and Brown Adipose Tissue Recruiting NCT03002675 Phase 4
29 Mirabegron and Brown Adipose Tissue Recruiting NCT03012113 Phase 4
30 Randomized Conversion of Calcineurin-Inhibitors in Renal Allograft Recipients Active, not recruiting NCT00866879 Phase 4
31 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4
32 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4
33 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
34 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4
35 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3
36 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3
37 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3
38 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3
39 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3
40 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3
41 Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3
42 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3
43 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3
44 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
45 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3
46 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3
47 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3
48 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3
49 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
50 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

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:

39
Liver, Bone, Bone Marrow, Brain, Spleen, Skin

Publications for Lipid Storage Disease

Articles related to Lipid Storage Disease:

(show top 50) (show all 74)
id Title Authors Year
1
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation. ( 26600210 )
2016
2
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
3
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings. ( 25956450 )
2015
4
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
5
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. ( 24836204 )
2014
6
Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A. ( 25363365 )
2014
7
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. ( 23146629 )
2013
8
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. ( 23333026 )
2013
9
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. ( 23824421 )
2013
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
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
12
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. ( 23867907 )
2013
13
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. ( 22832386 )
2012
14
Neutral lipid storage disease with unusual presentation: report of three cases. ( 21575048 )
2012
15
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. ( 22964912 )
2012
16
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. ( 22491199 )
2012
17
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. ( 21695016 )
2011
18
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. ( 20471263 )
2010
19
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. ( 21045422 )
2010
20
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. ( 21073837 )
2010
21
Jordans' anomaly in a new neutral lipid storage disease. ( 18429052 )
2009
22
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. ( 19696711 )
2009
23
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. ( 19401457 )
2009
24
[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. ( 18483801 )
2008
25
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. ( 18445677 )
2008
26
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. ( 18952067 )
2008
27
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. ( 17187067 )
2007
28
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. ( 17657808 )
2007
29
[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
30
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). ( 16741516 )
2006
31
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. ( 15967942 )
2005
32
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. ( 15944902 )
2005
33
Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. ( 11997500 )
2002
34
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. ( 11829492 )
2002
35
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. ( 11251597 )
2001
36
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. ( 10745395 )
2000
37
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. ( 10573364 )
1999
38
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. ( 9469583 )
1998
39
Neutral lipid storage disease--response to dietary intervention. ( 9301368 )
1997
40
Neutral lipid storage disease with fatty liver and cholestasis. ( 9360211 )
1997
41
Lipid storage disease. ( 9241629 )
1997
42
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. ( 8663220 )
1996
43
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. ( 8181512 )
1994
44
Neutral lipid storage disease. Case report and lipid studies. ( 8186119 )
1994
45
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. ( 8110183 )
1994
46
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. ( 7955510 )
1994
47
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. ( 2001430 )
1991
48
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. ( 1909403 )
1991
49
Spectroscopic MRI: a tool for the evaluation of systemic lipid storage disease. ( 2392038 )
1990
50
Genetic lipid storage disease with lysosomal acid lipase deficiency in rats. ( 2170747 )
1990

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:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.93 ARSA CLN5 GALC GBA GLA GLB1
2 Golgi apparatus GO:0005794 9.91 CLN3 CLN5 GLA GLB1 NPC1 PPT1
3 lysosome GO:0005764 9.77 ARSA CLN3 CLN5 GALC GBA GLA
4 lysosomal membrane GO:0005765 9.65 CLN3 CLN5 GBA NPC1 PSAP
5 azurophil granule lumen GO:0035578 9.58 ARSA GLA GLB1
6 lipid particle GO:0005811 9.5 ABHD5 PNPLA2 PNPLA3
7 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)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.92 ARSA GALC GBA GLA GLB1 HEXA
2 receptor-mediated endocytosis GO:0006898 9.86 CLN3 LIPA NPC1 PPT1
3 carbohydrate metabolic process GO:0005975 9.85 GALC GBA GLA GLB1 HEXA
4 lipid catabolic process GO:0016042 9.83 GALC LIPA PNPLA2 PNPLA3 PPT1
5 cholesterol metabolic process GO:0008203 9.75 CLN6 NPC1 SREBF1
6 lysosome organization GO:0007040 9.71 CLN3 CLN6 PPT1 TPP1
7 lipid metabolic process GO:0006629 9.7 ABHD5 GALC GBA LIPA NPC1 PNPLA2
8 sphingolipid metabolic process GO:0006665 9.67 GALC GBA PSAP SMPD2
9 protein catabolic process GO:0030163 9.65 CLN3 CLN5 CLN6 PPT1 TPP1
10 lipid homeostasis GO:0055088 9.61 PNPLA2 PNPLA3
11 triglyceride catabolic process GO:0019433 9.61 PNPLA2 PNPLA3
12 ceramide biosynthetic process GO:0046513 9.6 GBA SMPD2
13 low-density lipoprotein particle clearance GO:0034383 9.59 LIPA NPC1
14 response to pH GO:0009268 9.58 ARSA GBA
15 keratan sulfate catabolic process GO:0042340 9.57 GLB1 HEXA
16 positive regulation of triglyceride catabolic process GO:0010898 9.55 ABHD5 PNPLA2
17 acylglycerol acyl-chain remodeling GO:0036155 9.54 PNPLA2 PNPLA3
18 negative regulation of sequestering of triglyceride GO:0010891 9.52 ABHD5 PNPLA2
19 sphingomyelin metabolic process GO:0006684 9.51 CLN3 SMPD2
20 membrane raft organization GO:0031579 9.49 NPC1 PPT1
21 cellular macromolecule catabolic process GO:0044265 9.48 CLN6 PPT1
22 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
23 glycosphingolipid metabolic process GO:0006687 9.23 ARSA GALC GBA GLA GLB1 HEXA

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.44 ABHD5 ARSA GALC GBA GLA GLB1
2 beta-galactosidase activity GO:0004565 9.4 GLB1 PSAP
3 lipoprotein lipase activity GO:0004465 9.37 PNPLA2 PNPLA3
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.35 GALC GBA GLA GLB1 HEXA
5 triglyceride lipase activity GO:0004806 9.33 ABHD5 PNPLA2 PNPLA3
6 galactoside binding GO:0016936 9.32 GLA GLB1
7 acylglycerol O-acyltransferase activity GO:0016411 9.26 PNPLA2 PNPLA3

Sources for Lipid Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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