MCID: LPD009
MIFTS: 46

Lipid Storage Disease

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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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:

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

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.

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:



Diseases related to Lipid Storage Disease

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

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
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2
Clofibric Acid Phase 4 882-09-7 2797
3
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
4
Simvastatin Approved Phase 3 79902-63-9 54454
5
Atorvastatin Approved Phase 3 134523-00-5 60823
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
7
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
8
Torcetrapib Investigational Phase 3 262352-17-0
9 Vitamins Phase 3
10 Folate Phase 3
11 Vitamin B9 Phase 3
12 Vitamin B3 Phase 3
13 Trace Elements Phase 3
14 Nicotinic Acids Phase 3
15 Vasodilator Agents Phase 3
16 Vitamin B Complex Phase 3
17 Micronutrients Phase 3
18 Pharmaceutical Solutions Phase 2, Phase 3
19 Antimetabolites Phase 3
20 Hypolipidemic Agents Phase 3
21 Anticholesteremic Agents Phase 3
22 Lipid Regulating Agents Phase 3
23 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
24
Ezetimibe Approved Phase 2 163222-33-1 150311
25
Eliglustat Approved, Investigational Phase 2 491833-29-5 11531537 23652731
26 Phytosterol Phase 2
27 Gamma-sitosterol Phase 2
28
Rosuvastatin Calcium Phase 1 147098-20-2
29 Liver Extracts Phase 1
30 Calcium, Dietary Phase 1
31
Calcium Nutraceutical Phase 1 7440-70-2 271
32
Fenofibric acid Approved 42017-89-0 64929
33 Barley Approved
34
Calcium polycarbophil Approved 126040-58-2
35
Infliximab Approved 170277-31-3
36
Azathioprine Approved 446-86-6 2265
37 Psyllium
38 Soy Bean
39 Chrysarobin
40 Antirheumatic Agents
41
Eicosapentaenoic acid ethyl ester 3298
42 Gastrointestinal Agents
43 Immunosuppressive Agents
44 Dermatologic Agents
45 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

Genetic Tests for Lipid Storage Disease

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

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
36455410 2022
2
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A. 62
36333862 2022
3
Blocking Lipid Uptake Pathways Does not Prevent Toxicity in Adipose Triglyceride Lipase (ATGL) Deficiency. 62
36115595 2022
4
Chanarin-Dorfman Syndrome - A Neutral Lipid Storage Disease with Ichthyosis and Liver Cirrhosis. 62
36417465 2022
5
Knockdown of hepatocyte Perilipin-3 mitigates hepatic steatosis and steatohepatitis caused by hepatocyte CGI-58 deletion in mice. 62
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
35988956 2022
7
Neutral lipid storage disease with myopathy: A 10-year follow-up case report. 62
35713537 2022
8
Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases. 62
33966594 2022
9
Gaucher disease - more than just a rare lipid storage disease. 62
35066608 2022
10
Hereditary myopathies associated with hematological abnormalities. 62
34985130 2022
11
Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement. 62
35455589 2022
12
ABHD5 frameshift deletion in Golden Retrievers with ichthyosis. 62
34791225 2022
13
Features of the metabolic syndrome and subclinical atherosclerosis in patients with cerebrotendinous xanthomatosis: An augmented risk for premature cardiovascular disease. 62
36238157 2022
14
Anti-Inflammatory Mesenchymal Stromal Cell-Derived Extracellular Vesicles Improve Pathology in Niemann-Pick Type C Disease. 62
34944681 2021
15
Cerebral Palsy, COVID-19, and Neurolipidosis in an 18-Year-Old Female. 62
34722070 2021
16
Psychosis symptoms associated with Niemann-Pick disease type C. 62
34133410 2021
17
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement. 62
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
34440338 2021
19
Iminosugar Glucosidase Inhibitors Reduce Hepatic Inflammation in Hepatitis A Virus-Infected Ifnar1-/- Mice. 62
33692213 2021
20
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome. 62
33985321 2021
21
Resveratrol promotes lysosomal function via ER calcium-dependent TFEB activation to ameliorate lipid accumulation. 62
33605996 2021
22
ApoB-Specific CD4+ T Cells in Mouse and Human Atherosclerosis. 62
33669769 2021
23
Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants. 62
33414089 2021
24
Identification of Potential Biomarkers for Psoriasis by DNA Methylation and Gene Expression Datasets. 62
34512732 2021
25
Involvement of the Choroid Plexus in the Pathogenesis of Niemann-Pick Disease Type C. 62
34720883 2021
26
Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly. 62
33303358 2021
27
Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report. 62
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
33569515 2021
29
A Unique Junctional Interface at Contact Sites Between the Endoplasmic Reticulum and Lipid Droplets. 62
33898445 2021
30
The microscopic anatomy of endothelial cells in human atherosclerosis: Focus on ER and mitochondria. 62
32735733 2020
31
Neutral lipid-storage disease with myopathy and Jordan anomaly. 62
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
32342600 2020
33
The ATGL lipase cooperates with ABHD5 to mobilize lipids for hepatitis C virus assembly. 62
32542055 2020
34
Levitating Cells to Sort the Fit and the Fat. 62
32352239 2020
35
Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese. 62
31953843 2020
36
Cholesterol Transport in Wild-Type NPC1 and P691S: Molecular Dynamics Simulations Reveal Changes in Dynamical Behavior. 62
32331453 2020
37
Atherosclerosis: Beyond the lipid storage hypothesis. The role of autoimmunity. 62
31868918 2020
38
Childhood diffuse parenchymal lung diseases: We need a new classification. 62
31724297 2020
39
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy. 62
31729045 2020
40
Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy. 62
33551761 2020
41
Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report. 62
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
32810864 2020
43
Anti-inflammatory therapy in atherosclerosis. 62
31585888 2020
44
Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease. 62
32705597 2020
45
CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis. 62
32705602 2020
46
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review. 62
32564019 2020
47
Hedgehog signaling promotes lipolysis in adipose tissue through directly regulating Bmm/ATGL lipase. 62
31550483 2020
48
[The value of muscle biopsy in rhabdomyolysis]. 62
31775453 2019
49
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis. 62
31796091 2019
50
DEGS1 variant causes neurological disorder. 62
31186544 2019

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 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

Sources for Lipid Storage Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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