Lipid Storage Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LPD009 MIFTS: 46	Lipid Storage Disease Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Drugs Expand all tables

Sources

Aliases & Classifications for Lipid Storage Disease

MalaCards integrated aliases for Lipid Storage Disease:

Name: Lipid Storage Disease ¹¹ ⁵⁸ ¹⁴

Lipoidosis ¹¹ ⁷¹

Inborn Lipid Storage Disorder ¹¹

Lipid Storage Diseases ⁵²

Lipoid Storage Diseas ¹¹

Lipidoses ⁴³

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Lipid storage disorder, unspecified

Other lipid storage disorders

Orphanet: ⁵⁸

Inborn errors of metabolism

External Ids:

Disease Ontology ¹¹ DOID:9455

ICD9CM ³⁴ 272.7 272.8

MeSH ⁴³ D008064

SNOMED-CT ⁶⁸ 11455007 154744007

ICD10 ³¹ E75.6

ICD10 via Orphanet ³² E75.5 E75.6

Orphanet ⁵⁸ ORPHA79204

UMLS ⁷¹ C0023794 C0029591

Sources

Summaries for Lipid Storage Disease

NINDS: ⁵² 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 chanarin-dorfman syndrome and sphingolipidosis. 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 Glucose / Energy Metabolism. The drugs Bezafibrate and Clofibric Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone marrow, and related phenotypes are liver/biliary system and homeostasis/metabolism

Disease Ontology: ¹¹ A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.

Sources

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 407)

#	Related Disease	Score	Top Affiliating Genes
1	chanarin-dorfman syndrome	33.8	PPARA PNPLA3 PNPLA2
2	sphingolipidosis	32.4	H2AC18 GLA GBA1
3	fatty liver disease	32.3	SREBF1 PPARA PNPLA3 MIR34A MIR29A MIR21
4	fabry disease	32.3	MIR126 GLA GBA1
5	myopathy	31.7	PPARA PNPLA2 MIR21 MIR199A1 MIR126 INS
6	lipid metabolism disorder	31.0	SREBF1 PPARA PNPLA2 MIR21 MIR199A1 MIR126
7	non-alcoholic fatty liver disease	31.0	SREBF1 PPARA PNPLA3 MIR34A MIR21 MIR192
8	dilated cardiomyopathy	30.8	PPARA MIR34A MIR21 MIR199A1 MIR126 INS
9	lysosomal storage disease	30.6	SREBF1 PPARA PNPLA3 PNPLA2 MIR34A MIR29A
10	abdominal obesity-metabolic syndrome 1	30.6	PPARA MIR122 INS ADIPOQ
11	apnea, obstructive sleep	30.6	INS GPT ADIPOQ
12	liver cirrhosis	30.6	PNPLA3 MIR122 INS GPT ADIPOQ
13	chronic kidney disease	30.5	MIR21 MIR126 INS GLA CCR6 ADIPOQ
14	gallbladder disease	30.5	MIR199A1 INS GPT CCR6
15	arteriosclerosis	30.5	PPARA MIR21 MIR199A1 MIR155 MIR126 INS
16	demyelinating disease	30.5	MIR21 MIR155 MIR126 H2AC18 CCR6
17	hypertrophic cardiomyopathy	30.5	PPARA MIR29A MIR21 MIR199A1 MIR126 INS
18	inherited metabolic disorder	30.4	PPARA MIR34A MIR29A MIR21 MIR199A1 MIR192
19	overnutrition	30.4	SREBF1 PPARA MIR34A MIR29A MIR21 MIR199A1
20	familial hyperlipidemia	30.3	PPARA INS ADIPOQ
21	body mass index quantitative trait locus 11	30.2	SREBF1 PPARA PNPLA3 PNPLA2 MIR34A MIR29A
22	psoriasis	29.9	PPARA MIR21 MIR155 MIR122 CCR6
23	neutral lipid storage disease with myopathy	12.0
24	cerebrotendinous xanthomatosis	11.3
25	farber lipogranulomatosis	11.3
26	niemann-pick disease, type c1	11.3
27	primary triglyceride deposit cardiomyovasculopathy	11.3
28	non-langerhans-cell histiocytosis	11.2
29	xanthomatosis	11.2
30	myoclonus	11.1
31	adrenoleukodystrophy	11.1
32	siddiqi syndrome	11.1
33	lysosomal and lipase deficiency	11.1
34	mucolipidosis	11.1
35	lipidosis with triglycerid storage disease	11.1
36	lipoid proteinosis of urbach and wiethe	11.0
37	retinal dystrophy in systemic or cerebroretinal lipidoses	11.0
38	bacterial infectious disease	10.5	MIR21 MIR155 H2AC18 CCR6
39	microvascular complications of diabetes 3	10.5	MIR21 MIR192 INS
40	nasopharyngitis	10.5	INS GPT CCR6
41	esophageal varix	10.5	PNPLA3 INS GPT
42	cellulitis	10.5	INS GPT CCR6
43	peripheral artery disease	10.5	MIR21 MIR199A1 MIR126 INS
44	ovarian serous carcinoma	10.5	MIR29A MIR21 MIR199A1 H2AC18
45	cecal disease	10.5	H2AC18 GPT CCR6
46	hepatic vascular disease	10.5	PNPLA3 MIR199A1 INS GPT CCR6
47	conjunctival disease	10.5	MIR21 GPT CCR6
48	abdominal obesity-metabolic syndrome quantitative trait locus 2	10.5	PPARA INS ADIPOQ
49	pleural disease	10.5	MIR21 MIR199A1 H2AC18 CCR6
50	ovarian clear cell carcinoma	10.5	MIR21 MIR199A1 H2AC18

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

Hypertension, Essential

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

Sources

Symptoms & Phenotypes for Lipid Storage Disease

MGI Mouse Phenotypes related to Lipid Storage Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system	MP:0005370	9.65	ADIPOQ CYP27A1 GBA1 GLA INS MIR122
2	homeostasis/metabolism	MP:0005376	9.47	ADIPOQ CCR6 CYP27A1 GBA1 GLA INS

Sources

Drugs & Therapeutics for Lipid Storage Disease

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

(show all 45)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Bezafibrate

Approved, Investigational

Phase 4

41859-67-0

39042

Clofibric Acid

Phase 4

882-09-7

2797

Nicotinamide

Approved, Investigational

Phase 3

98-92-0

936

Simvastatin

Approved

Phase 3

79902-63-9

54454

Atorvastatin

Approved

Phase 3

134523-00-5

60823

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

Niacin

Approved, Investigational, Nutraceutical

Phase 3

59-67-6

938

Torcetrapib

Investigational

Phase 3

262352-17-0

Vitamins

Phase 3

Folate

Phase 3

Vitamin B9

Phase 3

Vitamin B3

Phase 3

Trace Elements

Phase 3

Nicotinic Acids

Phase 3

Vasodilator Agents

Phase 3

Vitamin B Complex

Phase 3

Micronutrients

Phase 3

Pharmaceutical Solutions

Phase 2, Phase 3

Antimetabolites

Phase 3

Hypolipidemic Agents

Phase 3

Anticholesteremic Agents

Phase 3

Lipid Regulating Agents

Phase 3

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 3

Ezetimibe

Approved

Phase 2

163222-33-1

150311

Eliglustat

Approved, Investigational

Phase 2

491833-29-5

11531537 23652731

Phytosterol

Phase 2

Gamma-sitosterol

Phase 2

Rosuvastatin Calcium

Phase 1

147098-20-2

Liver Extracts

Phase 1

Calcium, Dietary

Phase 1

Calcium

Nutraceutical

Phase 1

7440-70-2

271

Fenofibric acid

Approved

42017-89-0

64929

Barley

Approved

Calcium polycarbophil

Approved

126040-58-2

Infliximab

Approved

170277-31-3

Azathioprine

Approved

446-86-6

2265

Psyllium

Soy Bean

Chrysarobin

Antirheumatic Agents

Eicosapentaenoic acid ethyl ester

3298

Gastrointestinal Agents

Immunosuppressive Agents

Dermatologic Agents

Immunologic Factors

Interventional clinical trials:

(show all 29)

#	Name	Status	NCT ID	Phase	Drugs
1	The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)	Completed	NCT01527318	Phase 4	Fibrate treatment
2	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)
3	A Phase IV, Multicenter, Randomized, Dose Frequency Study of the Safety and Efficacy of Cerezyme® Infusions Every Four Weeks Versus Every Two Weeks in the Maintenance Therapy of Patients With Type 1 Gaucher Disease	Completed	NCT00364858	Phase 4	Cerezyme
4	An 8-Week, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction in Subjects With Mixed Hyperlipoproteinemia	Withdrawn	NCT02069106	Phase 4
5	A Multicenter, Randomized, Double-Blind, "Factorial" Design Study to Evaluate the Lipid-Altering Efficacy and Safety of Coadministered MK0524B Tablets in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia	Completed	NCT00269217	Phase 3	niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
6	A Worldwide, Multicenter, Double-Blind, Randomized, Parallel, Placebo-Controlled Study to Evaluate the Lipid-Altering Efficacy, Safety and Tolerability of MK0524A in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia	Completed	NCT00269204	Phase 3	niacin (+) laropiprant;ER-niacin
7	A Multicenter, Randomized, Double-Blind, Parallel Group, 12 Week Study to Evaluate the Efficacy and Safety of MK0524B Versus Atorvastatin in Patients With Mixed Hyperlipidemia	Completed	NCT00289900	Phase 3	MK-0524A;Atorvastatin;Simvastatin
8	A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency	Active, not recruiting	NCT02004691	Phase 2, Phase 3	placebo (saline);GZ402665
9	Phase 3 Multi-Center, Double-Blind, Randomized, Parallel Group, Carotid B-mode Ultrasound Evaluation of the Anti-Atherosclerotic Efficacy, Safety, and Tolerability of Fixed Combination CP-529,414/Atorvastatin, Administered Orally, Once Daily (QD) for 24 Months, Compared With Atorvastatin Alone, in Subjects With Mixed Hyperlipidemia	Terminated	NCT00134238	Phase 3	torcetrapib/atorvastatin;atorvastatin
10	A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate SCH-58235 in Homozygous Sitosterolemia	Completed	NCT00045812	Phase 2	SCH-58235
11	A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency	Completed	NCT02292654	Phase 1, Phase 2	Olipudase alfa
12	A Phase 2 Randomized, Double-Blind, Dose-Response Efficacy and Safety Study of SCH 900271 Compared to Placebo in Subjects With Primary Hypercholesterolemia (Familial and Nonfamilial) or Mixed Hyperlipidemia	Completed	NCT00941603	Phase 2	SCH 900271 15mg;SCH 900271;Placebo
13	A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients	Completed	NCT00358150	Phase 2	Eliglustat tartrate
14	A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency	Active, not recruiting	NCT02004704	Phase 2	GZ402665
15	Effects of Pediatric Liver Adiposity on Statin Disposition and Response	Recruiting	NCT04903223	Phase 1	Rosuvastatin 10mg
16	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy	Unknown status	NCT02635269
17	Comparison of the Efficacy and AtorVastatin 20mg mOnotherapy Versus Combination Atorvastatin/Fenofibric Acid 10/135mg in the Mixed hyperlipiDemia Who Were Not at Lipid gOals With Atorvastatin 10mg Monotherapy.	Unknown status	NCT01974297		Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg
18	DASH Dietary Pattern and Cardiometabolic Risk: An Umbrella Review of Systematic Reviews and Meta-analyses of Prospective Cohort Studies and Randomized and Non-randomized Controlled Trials	Unknown status	NCT03542370
19	Effect of a Portfolio Dietary Pattern on Cardiometabolic Risk: A Systematic Review and Meta-analysis of Controlled Trials	Unknown status	NCT03534414
20	Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)	Approved for marketing	NCT04877132		olipudase alfa (GZ402665)
21	Study of Physical and Physiological Changes Through the Use of a Mobile App That Promotes Healthy Habits	Completed	NCT05093803
22	International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases	Recruiting	NCT02918032
23	Let's Get to Know Your Health Better? Assessment of Lifestyle, Blood Pressure and Cholesterol in the Population of Employees Libbs Farmacêutica LTDA.	Recruiting	NCT04373863
24	Gaucher Disease Registry Protocol	Recruiting	NCT00358943
25	Can Mindful Eating Improve Cholesterol and Glucose Level: A Tele-Health Pilot-Randomised Controlled Trial	Recruiting	NCT04833595
26	A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)	Active, not recruiting	NCT04106544
27	The Investigation of Daily Living Activities and Exercise Capacity in Lipid Storage Diseases	Not yet recruiting	NCT03875105
28	N-3 Polyunsaturated Fatty Acids Prevent Postoperative Recurrence of Crohn's Disease：a Prospective Randomized Controlled Trial	Not yet recruiting	NCT04761952		azathioprine;infliximab;N-3 Polyunsaturated Fatty Acids
29	Clinical Study on the Safety and Efficacy of Medium-chain Fatty Acid Capsules (CNT-02) for Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Neutral Lipid Storage Disease With Myopathy (NLSD-M)	Terminated	NCT02830763

Search NIH Clinical Center for Lipid Storage Disease

Cochrane evidence based reviews: lipidoses

Sources

Genetic Tests for Lipid Storage Disease

Sources

Anatomical Context for Lipid Storage Disease

Organs/tissues related to Lipid Storage Disease:

MalaCards : Brain, Liver, Bone Marrow, Adrenal Cortex, Skin, T Cells, Pancreatic Islet

Sources

Publications for Lipid Storage Disease

Articles related to Lipid Storage Disease:

(show top 50) (show all 655)

#	Title	Authors	PMID	Year
1	Heat shock protein amplification improves cerebellar myelination in the Npc1nih mouse model. ⁶²	Gray J...Platt FM	36455410	2022
2	Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A. ⁶²	Kavcic A...Groselj U	36333862	2022
3	Blocking Lipid Uptake Pathways Does not Prevent Toxicity in Adipose Triglyceride Lipase (ATGL) Deficiency. ⁶²	Oluwadare J...Goldberg IJ	36115595	2022
4	Chanarin-Dorfman Syndrome - A Neutral Lipid Storage Disease with Ichthyosis and Liver Cirrhosis. ⁶²	Rajasekaran V...Evans H	36417465	2022
5	Knockdown of hepatocyte Perilipin-3 mitigates hepatic steatosis and steatohepatitis caused by hepatocyte CGI-58 deletion in mice. ⁶²	Bao X...Zhang Z	36107452	2022
6	Spontaneous splenic rupture as the first clinical manifestation of Niemann-Pick disease type B: A case report and review of the literature. ⁶²	Lan MY...Huang WT	35988956	2022
7	Neutral lipid storage disease with myopathy: A 10-year follow-up case report. ⁶²	Missaglia S...Angelini C	35713537	2022
8	Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases. ⁶²	Safavi M...Motamed F	33966594	2022
9	Gaucher disease - more than just a rare lipid storage disease. ⁶²	Roh J...Kartha RV	35066608	2022
10	Hereditary myopathies associated with hematological abnormalities. ⁶²	Beecher G...Liewluck T	34985130	2022
11	Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement. ⁶²	Kraus D...Staretz-Chacham O	35455589	2022
12	ABHD5 frameshift deletion in Golden Retrievers with ichthyosis. ⁶²	Kiener S...Leeb T	34791225	2022
13	Features of the metabolic syndrome and subclinical atherosclerosis in patients with cerebrotendinous xanthomatosis: An augmented risk for premature cardiovascular disease. ⁶²	Cohen H...Shaish A	36238157	2022
14	Anti-Inflammatory Mesenchymal Stromal Cell-Derived Extracellular Vesicles Improve Pathology in Niemann-Pick Type C Disease. ⁶²	Van Hoecke L...Vandenbroucke RE	34944681	2021
15	Cerebral Palsy, COVID-19, and Neurolipidosis in an 18-Year-Old Female. ⁶²	Stoyanov GS...Petkova L	34722070	2021
16	Psychosis symptoms associated with Niemann-Pick disease type C. ⁶²	Ong LT	34133410	2021
17	Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement. ⁶²	Kisa PT...Arslan N	33704661	2021
18	Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome. ⁶²	Kopp J...Fischer J	34440338	2021
19	Iminosugar Glucosidase Inhibitors Reduce Hepatic Inflammation in Hepatitis A Virus-Infected Ifnar1-/- Mice. ⁶²	Misumi I...Lemon SM	33692213	2021
20	Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome. ⁶²	Tavian D...Missaglia S	33985321	2021
21	Resveratrol promotes lysosomal function via ER calcium-dependent TFEB activation to ameliorate lipid accumulation. ⁶²	Shao R...Li D	33605996	2021
22	ApoB-Specific CD4+ T Cells in Mouse and Human Atherosclerosis. ⁶²	Marchini T...Wolf D	33669769	2021
23	Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants. ⁶²	Zhang P...Wang HJ	33414089	2021
24	Identification of Potential Biomarkers for Psoriasis by DNA Methylation and Gene Expression Datasets. ⁶²	Liu Y...Han D	34512732	2021
25	Involvement of the Choroid Plexus in the Pathogenesis of Niemann-Pick Disease Type C. ⁶²	Van Hoecke L...Vandenbroucke RE	34720883	2021
26	Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly. ⁶²	Avila-Smirnow D...Gejman-Enriquez R	33303358	2021
27	Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report. ⁶²	Ahmed Ghassem M...Bezza A	34104504	2021
28	A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy. ⁶²	Tavian D...Missaglia S	33569515	2021
29	A Unique Junctional Interface at Contact Sites Between the Endoplasmic Reticulum and Lipid Droplets. ⁶²	Choudhary V...Schneiter R	33898445	2021
30	The microscopic anatomy of endothelial cells in human atherosclerosis: Focus on ER and mitochondria. ⁶²	Perrotta I	32735733	2020
31	Neutral lipid-storage disease with myopathy and Jordan anomaly. ⁶²	Zuccarino R...Gutmann L	32759194	2020
32	Ultrastructure of spinal anterior horn cells in human Niemann-Pick type C (NPC) patient and mouse model of NPC with retroposon insertion in NPC1 genes. ⁶²	Kusunoki-Ii M...Kato S	32342600	2020
33	The ATGL lipase cooperates with ABHD5 to mobilize lipids for hepatitis C virus assembly. ⁶²	Vieyres G...Pietschmann T	32542055	2020
34	Levitating Cells to Sort the Fit and the Fat. ⁶²	Puluca N...Demirci U	32352239	2020
35	Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese. ⁶²	Cheng R...Yao Z	31953843	2020
36	Cholesterol Transport in Wild-Type NPC1 and P691S: Molecular Dynamics Simulations Reveal Changes in Dynamical Behavior. ⁶²	Elghobashi-Meinhardt N	32331453	2020
37	Atherosclerosis: Beyond the lipid storage hypothesis. The role of autoimmunity. ⁶²	Cinoku II...Moutsopoulos HM	31868918	2020
38	Childhood diffuse parenchymal lung diseases: We need a new classification. ⁶²	Cinel G...Haliloglu M	31724297	2020
39	MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy. ⁶²	Pegoraro V...Angelini C	31729045	2020
40	Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy. ⁶²	Shi J...Lv H	33551761	2020
41	Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report. ⁶²	Zhang J...Ji G	32269696	2020
42	Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1). ⁶²	Vasiljevski ER...Schindeler A	32810864	2020
43	Anti-inflammatory therapy in atherosclerosis. ⁶²	Kocyigit D...Tokgozoglu L	31585888	2020
44	Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease. ⁶²	Wang HH...Wang DQ	32705597	2020
45	CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis. ⁶²	Yu L...Wang H	32705602	2020
46	Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review. ⁶²	Samukawa M...Kusunoki S	32564019	2020
47	Hedgehog signaling promotes lipolysis in adipose tissue through directly regulating Bmm/ATGL lipase. ⁶²	Zhang J...Jia J	31550483	2020
48	[The value of muscle biopsy in rhabdomyolysis]. ⁶²	Zhao YW...Yuan Y	31775453	2019
49	Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis. ⁶²	Tao QQ...Wu ZY	31796091	2019
50	DEGS1 variant causes neurological disorder. ⁶²	Dolgin V...Birk OS	31186544	2019

Sources

Genes for Lipid Storage Disease

Genes related to Lipid Storage Disease (0 elite genes):

(show top 50) (show all 80)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PNPLA2	Patatin Like Phospholipase Domain Containing 2	Protein Coding	35.39	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
2	CYP27A1	Cytochrome P450 Family 27 Subfamily A Member 1	Protein Coding	23.76	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
3	MIR122	MicroRNA 122	RNA Gene	10.99	DISEASES inferred ¹⁴ ¹⁴
4	MIR199A1	MicroRNA 199a-1	RNA Gene	10.23	DISEASES inferred ¹⁴ ¹⁴
5	MIR21	MicroRNA 21	RNA Gene	10.09	DISEASES inferred ¹⁴ ¹⁴
6	MIR192	MicroRNA 192	RNA Gene	9.99	DISEASES inferred ¹⁴ ¹⁴
7	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	9.61	DISEASES inferred ¹⁴ ¹⁴
8	GPT	Glutamic--Pyruvic Transaminase	Protein Coding	9.36	DISEASES inferred ¹⁴
9	MIR34A	MicroRNA 34a	RNA Gene	9.27	DISEASES inferred ¹⁴ ¹⁴
10	GLA	Galactosidase Alpha	Protein Coding	9.21	DISEASES inferred ¹⁴
11	INS	Insulin	Protein Coding	9.1	DISEASES inferred ¹⁴
12	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	9.02	DISEASES inferred ¹⁴
13	MIR29A	MicroRNA 29a	RNA Gene	8.93	DISEASES inferred ¹⁴ ¹⁴
14	GBA1	Glucosylceramidase Beta 1	Protein Coding	8.92	DISEASES inferred ¹⁴
15	PPARA	Peroxisome Proliferator Activated Receptor Alpha	Protein Coding	8.85	DISEASES inferred ¹⁴
16	PNPLA3	Patatin Like Phospholipase Domain Containing 3	Protein Coding	8.84	DISEASES inferred ¹⁴
17	MIR155	MicroRNA 155	RNA Gene	8.72	DISEASES inferred ¹⁴ ¹⁴
18	ADIPOQ	Adiponectin, C1Q And Collagen Domain Containing	Protein Coding	8.59	DISEASES inferred ¹⁴
19	H2AC18	H2A Clustered Histone 18	Protein Coding	8.59	DISEASES inferred ¹⁴ ¹⁴
20	MIR126	MicroRNA 126	RNA Gene	8.54	DISEASES inferred ¹⁴ ¹⁴
21	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	8.53	DISEASES inferred ¹⁴
22	NPC1	NPC Intracellular Cholesterol Transporter 1	Protein Coding	8.5	DISEASES inferred ¹⁴
23	MIR181B1	MicroRNA 181b-1	RNA Gene	8.48	DISEASES inferred ¹⁴ ¹⁴
24	LEP	Leptin	Protein Coding	8.46	DISEASES inferred ¹⁴
25	MIR27B	MicroRNA 27b	RNA Gene	8.43	DISEASES inferred ¹⁴ ¹⁴
26	CLN3	CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin	Protein Coding	8.41	DISEASES inferred ¹⁴
27	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	8.39	DISEASES inferred ¹⁴
28	IL6	Interleukin 6	Protein Coding	8.36	DISEASES inferred ¹⁴
29	MIR142	MicroRNA 142	RNA Gene	8.28	DISEASES inferred ¹⁴ ¹⁴
30	MIR212	MicroRNA 212	RNA Gene	8.27	DISEASES inferred ¹⁴ ¹⁴
31	TNF	Tumor Necrosis Factor	Protein Coding	8.25	DISEASES inferred ¹⁴
32	SERPINA3	Serpin Family A Member 3	Protein Coding	8.22	DISEASES inferred ¹⁴ ¹⁴
33	MIR17	MicroRNA 17	RNA Gene	8.19	DISEASES inferred ¹⁴ ¹⁴
34	NPC2	NPC Intracellular Cholesterol Transporter 2	Protein Coding	8.18	DISEASES inferred ¹⁴
35	ALB	Albumin	Protein Coding	8.16	DISEASES inferred ¹⁴
36	FGF21	Fibroblast Growth Factor 21	Protein Coding	8.09	DISEASES inferred ¹⁴
37	PPT1	Palmitoyl-Protein Thioesterase 1	Protein Coding	8.09	DISEASES inferred ¹⁴
38	GALC	Galactosylceramidase	Protein Coding	8.09	DISEASES inferred ¹⁴
39	IL1B	Interleukin 1 Beta	Protein Coding	8.08	DISEASES inferred ¹⁴
40	TM6SF2	Transmembrane 6 Superfamily Member 2	Protein Coding	8.08	DISEASES inferred ¹⁴
41	MIR423	MicroRNA 423	RNA Gene	8.04	DISEASES inferred ¹⁴ ¹⁴
42	MIR9-1	MicroRNA 9-1	RNA Gene	8.01	DISEASES inferred ¹⁴ ¹⁴
43	SMPD1	Sphingomyelin Phosphodiesterase 1	Protein Coding	8	DISEASES inferred ¹⁴
44	ARSA	Arylsulfatase A	Protein Coding	7.97	DISEASES inferred ¹⁴
45	LIPA	Lipase A, Lysosomal Acid Type	Protein Coding	7.96	DISEASES inferred ¹⁴
46	CYP2E1	Cytochrome P450 Family 2 Subfamily E Member 1	Protein Coding	7.95	DISEASES inferred ¹⁴
47	CHIT1	Chitinase 1	Protein Coding	7.93	DISEASES inferred ¹⁴
48	MIR33B	MicroRNA 33b	RNA Gene	7.92	DISEASES inferred ¹⁴ ¹⁴
49	MCOLN1	Mucolipin TRP Cation Channel 1	Protein Coding	7.91	DISEASES inferred ¹⁴
50	MIR150	MicroRNA 150	RNA Gene	7.9	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Lipid Storage Disease

Sources

Expression for Lipid Storage Disease

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

Sources

Pathways for Lipid Storage Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.56	SREBF1 PPARA PNPLA3 PNPLA2 INS GPT
2	Glucose / Energy Metabolism ³	12.24	SREBF1 PNPLA2 INS ADIPOQ
3	AMP-activated protein kinase signaling ⁷⁴ Show member pathways AMPK Signaling Pathway ⁶⁷ Leptin and adiponectin ⁷⁴	11.78	SREBF1 PNPLA2 INS ADIPOQ
4	PPAR signaling pathway ⁷⁴ Show member pathways FABP4 in ovarian cancer ⁷⁴ Fatty acid transporters ⁷⁴	11.55	PPARA CYP27A1 ADIPOQ
5	Adipogenesis ⁷⁴	11.47	SREBF1 PPARA PNPLA3 INS ADIPOQ
6	Interactions between immune cells and microRNAs in tumor microenvironment ⁷⁴	11.23	MIR21 MIR29A MIR34A
7	Nonalcoholic fatty liver disease ⁷⁴	11.12	SREBF1 PPARA INS ADIPOQ
8	Familial partial lipodystrophy ⁷⁴	10.85	SREBF1 PPARA PNPLA2
9	miRNAs involvement in the immune response in sepsis ⁷⁴	10.81	MIR21 MIR199A1 MIR155 MIR126 MIR122
10	SREBF and miR33 in cholesterol and lipid homeostasis ⁷⁴	10.68	SREBF1 PPARA

Sources

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 space	GO:0005615	9.93	MIR29A MIR21 MIR199A1 MIR192 MIR126 MIR122
2	RISC complex	GO:0016442	9.8	MIR29A MIR21 MIR199A1 MIR192 MIR155 MIR126
3	extracellular vesicle	GO:1903561	9.1	MIR34A MIR29A MIR21 MIR192 MIR126 MIR122

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

(show all 23)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	10.12	SREBF1 PNPLA3 PNPLA2 GLA GBA1 CYP27A1
2	cellular response to insulin stimulus	GO:0032869	10.02	ADIPOQ GPT PNPLA3 SREBF1
3	regulation of fatty acid metabolic process	GO:0019217	9.91	SREBF1 PPARA
4	positive regulation of angiogenesis	GO:0045766	9.9	MIR29A MIR21 MIR199A1 MIR126
5	negative regulation of protein kinase B signaling	GO:0051898	9.89	PPARA MIR34A MIR29A
6	negative regulation of gene expression	GO:0010629	9.87	MIR34A MIR29A MIR21 MIR199A1 MIR155 INS
7	response to sucrose	GO:0009744	9.86	ADIPOQ PNPLA3
8	negative regulation of sequestering of triglyceride	GO:0010891	9.85	PNPLA2 PPARA
9	negative regulation of cell migration	GO:0030336	9.85	MIR34A MIR29A MIR21 MIR126 ADIPOQ
10	lymphocyte migration	GO:0072676	9.84	GBA1 CCR6
11	positive regulation of fatty acid metabolic process	GO:0045923	9.83	PPARA ADIPOQ
12	acylglycerol acyl-chain remodeling	GO:0036155	9.81	PNPLA3 PNPLA2
13	lipid localization	GO:0010876	9.8	SREBF1 PPARA
14	miRNA-mediated gene silencing by inhibition of translation	GO:0035278	9.79	MIR29A MIR21 MIR126
15	negative regulation of inflammatory response	GO:0050728	9.76	PPARA MIR199A1 MIR126 GBA1 ADIPOQ
16	regulation of lipid storage	GO:0010883	9.74	SREBF1 PPARA
17	negative regulation of vascular associated smooth muscle cell migration	GO:1904753	9.71	MIR34A MIR21 ADIPOQ
18	negative regulation of reactive oxygen species biosynthetic process	GO:1903427	9.65	INS MIR21 PPARA
19	positive regulation of vascular endothelial cell proliferation	GO:1905564	9.61	MIR29A MIR21 MIR126
20	positive regulation of connective tissue replacement	GO:1905205	9.58	MIR34A MIR199A1
21	miRNA-mediated gene silencing	GO:0035195	9.47	MIR34A MIR29A MIR21 MIR199A1 MIR192 MIR155
22	negative regulation of interleukin-21 production	GO:0032705	9.46	MIR21 MIR192
23	positive regulation of protein kinase B signaling	GO:0051897	9.43	MIR29A MIR21 MIR199A1 MIR126 INS

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

#	Name	GO ID	Score	Top Affiliating Genes
1	acylglycerol O-acyltransferase activity	GO:0016411	9.62	PNPLA3 PNPLA2
2	diolein transacylation activity	GO:0051265	9.56	PNPLA3 PNPLA2
3	mRNA 3'-UTR binding	GO:0003730	9.5	MIR34A MIR29A MIR21 MIR199A1 MIR192 MIR155
4	mono-olein transacylation activity	GO:0051264	9.46	PNPLA3 PNPLA2
5	mRNA base-pairing translational repressor activity	GO:1903231	9.17	MIR34A MIR29A MIR21 MIR199A1 MIR192 MIR155