MCID: FTT003
MIFTS: 38

Fatty Acid Oxidation Disorders

Categories: Genetic diseases

Aliases & Classifications for Fatty Acid Oxidation Disorders

MalaCards integrated aliases for Fatty Acid Oxidation Disorders:

Name: Fatty Acid Oxidation Disorders 24
Faod 24

Classifications:



Summaries for Fatty Acid Oxidation Disorders

MalaCards based summary : Fatty Acid Oxidation Disorders, also known as faod, is related to trifunctional protein deficiency and carnitine-acylcarnitine translocase deficiency. An important gene associated with Fatty Acid Oxidation Disorders is SLC25A20 (Solute Carrier Family 25 Member 20), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Antimetabolites and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and testes, and related phenotypes are homeostasis/metabolism and liver/biliary system

Related Diseases for Fatty Acid Oxidation Disorders

Diseases related to Fatty Acid Oxidation Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
id Related Disease Score Top Affiliating Genes
1 trifunctional protein deficiency 11.3
2 carnitine-acylcarnitine translocase deficiency 11.1
3 d-bifunctional protein deficiency 10.9
4 acyl-coa dehydrogenase, short-chain, deficiency of 10.9
5 3-alpha hydroxyacyl-coa dehydrogenase deficiency 10.9
6 carnitine palmitoyltransferase i deficiency , muscle 10.9
7 mitochondrial complex iii deficiency, nuclear type 4 10.6 CPT2 SLC25A20
8 malignant cardiac peripheral nerve sheath neoplasm 10.5 ACADM HADHA
9 myosin storage myopathy 10.5 ACADVL CPT2
10 ventricular tachycardia, catecholaminergic polymorphic, 1 10.3 ACADVL SLC25A20
11 body dysmorphic disorder 10.3 ACADM ACADS
12 wagr syndrome 10.2 ACADS SLC25A13
13 seckel syndrome 9 10.2 CPT1A CPT2 SLC25A20
14 subleukemic leukemia 10.2 ACADM PPARA
15 mitochondrial dna depletion syndrome 12 10.2 ACADVL CPT2
16 deafness, autosomal dominant 25 10.0 ACADM ACADS SLC25A13
17 orbital cancer 10.0 HADHA SLC25A13
18 leukemia, chronic lymphocytic 3 10.0 PPARA SLC25A13
19 casr-related disorders 9.9 ACADVL CPT2 HADHA SLC25A20
20 organic acidemia 9.9
21 long qt syndrome 6 9.9 ACADL SLC25A13 SLC25A20
22 3-hydroxyacyl-coa dehydrogenase deficiency 9.8
23 liver disease 9.8
24 hemorrhoid 9.8 HADHA SLC25A13
25 bile acid synthesis defect, congenital, 4 9.8 HSD17B4 SCP2
26 triple x syndrome 9.7 ACADL ACADM ACADVL SLC25A20
27 perrault syndrome 1 9.7 HSD17B4 SCP2
28 sudden infant death syndrome 9.7
29 hellp syndrome 9.7
30 reye syndrome 9.7
31 cyclic vomiting syndrome 9.7
32 cardiomyopathy 9.7
33 hyperinsulinemic hypoglycemia, familial, 4 9.7 ACADM ACADVL HADHA PPARA
34 lymphoblastic lymphoma 9.6 HADHA PPARA SLC25A13
35 peroxisome biogenesis disorder 9b 9.5 HSD17B4 SCP2
36 warburg micro syndrome 9.4 ACADL ACADVL CPT1A CPT2 SLC25A20
37 acyl-coa dehydrogenase, medium chain, deficiency of 9.4 ACADL ACADM ACADS ACADVL HADHA
38 congenital disorder of glycosylation, type iig 9.2 HSD17B4 PPARA SCP2
39 cystinosis, ocular nonnephropathic 8.6 ACADL ACADS ACADVL CPT2 HADHA SLC25A13
40 fgb-related congenital afibrinogenemia 5.9 ACADL ACADM ACADS ACADVL CPT1A CPT2

Graphical network of the top 20 diseases related to Fatty Acid Oxidation Disorders:



Diseases related to Fatty Acid Oxidation Disorders

Symptoms & Phenotypes for Fatty Acid Oxidation Disorders

MGI Mouse Phenotypes related to Fatty Acid Oxidation Disorders:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 SCP2 SLC25A13 ACADVL SLC25A20 CPT1A CPT2
2 liver/biliary system MP:0005370 9.91 SLC25A13 ACADVL HADHA ACADL HSD17B4 ACADM
3 mortality/aging MP:0010768 9.9 SLC25A13 ACADVL SLC25A20 CPT1A CPT2 HADHA
4 cardiovascular system MP:0005385 9.85 ACADVL CPT1A HADHA ACADL ACADM PPARA
5 muscle MP:0005369 9.43 ACADS ACADVL HADHA HSD17B4 ACADM PPARA
6 renal/urinary system MP:0005367 8.92 ACADS SLC25A13 HADHA ACADL

Drugs & Therapeutics for Fatty Acid Oxidation Disorders

Drugs for Fatty Acid Oxidation Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 60)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antimetabolites Phase 4,Phase 2
2 Calcium, Dietary Phase 4
3 Hypolipidemic Agents Phase 4,Phase 2
4 Lipid Regulating Agents Phase 4,Phase 2
5 Anticholesteremic Agents Phase 4
6 Atorvastatin Calcium Phase 4 134523-03-8
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
8 Omega 3 Fatty Acid Nutraceutical Phase 3
9
Glycerol Approved, Investigational Phase 2 56-81-5 753
10
Fenofibrate Approved Phase 2 49562-28-9 3339
11
Bezafibrate Approved Phase 2 41859-67-0 39042
12
Trimetazidine Approved Phase 2 5011-34-7
13 insulin Phase 2
14 Insulin, Globin Zinc Phase 2
15 Vasodilator Agents Phase 2
16 carnitine Nutraceutical Phase 2
17
Heparin Approved, Investigational 9005-49-6 772 46507594
18
Phentermine Approved, Illicit 122-09-8 4771
19
Ethanol Approved 64-17-5 702
20
Pioglitazone Approved, Investigational 111025-46-8 4829
21
Acetylcysteine Approved, Investigational 616-91-1 12035
22
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
23 Anticoagulants
24 calcium heparin
25 Fibrinolytic Agents
26 Adrenergic Agents
27 Anti-Obesity Agents
28 Appetite Depressants
29 Autonomic Agents
30 Central Nervous System Stimulants
31 Neurotransmitter Agents
32 Peripheral Nervous System Agents
33 Anti-Infective Agents
34 Anti-Infective Agents, Local
35 Central Nervous System Depressants
36 Hypoglycemic Agents
37 Hormone Antagonists
38 Hormones
39 Hormones, Hormone Substitutes, and Hormone Antagonists
40 Fat Emulsions, Intravenous
41 Parenteral Nutrition Solutions
42 Pharmaceutical Solutions
43 Protective Agents
44 Soybean oil, phospholipid emulsion
45 Liver Extracts
46 Antidotes
47 Antioxidants
48 Antiviral Agents
49 Expectorants
50 N-monoacetylcystine

Interventional clinical trials:

(show all 36)

id Name Status NCT ID Phase Drugs
1 Is Myopathy Part of Statin Therapy (IMPOSTER-16) Terminated NCT00127335 Phase 4 cellulose placebo vs. atorvastatin
2 Go Fish: Omega-3 Fatty Acid Supplementation in Diabetes-Related Kidney Disease Completed NCT01092390 Phase 3
3 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
4 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder Completed NCT01379625 Phase 2 Triheptanoin
5 An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Completed NCT01886378 Phase 2 UX007
6 Substrate Cycling in Energy Metabolism Completed NCT00361751 Phase 2 fenofibrate
7 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2 Bezafibrate
8 Effect of Pulse Fractions on Indices on Cardiovascular Disease and Diabetes Risk Factors Completed NCT00839774 Phase 2
9 Trimetazidine in Pulmonary Artery Hypertension Recruiting NCT02102672 Phase 2 Trimetazidine
10 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies. Enrolling by invitation NCT02214160 Phase 2 UX007
11 Impact of a Ketogenic Diet Intervention During Radiotherapy on Body Composition Recruiting NCT02516501 Phase 1
12 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
13 Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids Completed NCT00328159 Oil special 107 and MYGLIOL 810
14 Fat Induced Insulin Resistance and Atherosclerosis Completed NCT02348190
15 Fat and Sugar Metabolism During Exercise, With and Without L-carnitine in Patients With Carnitine Transporter Deficiency Completed NCT02226419
16 Energy Requirements in Mitochondrial Disease Completed NCT01776918
17 Effect of Caloric Restriction on Fat Oxidation in Obese Men and Women (Magellan II) Completed NCT01616082 Phentermine
18 Moderate Alcohol Consumption, Fat and Carbohydrate Metabolism and Insulin Sensitivity Completed NCT00364767
19 Myocardial Function & FFA Metabolism in HIV Metabolic Syndrome Completed NCT00656851 Pioglitazone
20 Substrate Metabolism, Growth Hormone Signaling, and Insulin Sensitivity During Fasting Completed NCT02500095 Saline;Pegvisomant
21 Fat Metabolism in Pregnancy and Neonatal Heart Function in Diabetes Completed NCT01346527
22 CCRC: Understanding the Effects of Omega-3 Fatty Acids Versus Lignans in Flaxseed on Metabolic and Inflammatory Markers Leading to Diabetes and Cardiovascular Disease Completed NCT00935922
23 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295 Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
24 Body Composition and Very-Low-Density-Lipoprotein-Triglycerides (VLDL-TG) Kinetics Completed NCT00646698
25 Do Apolipoprotein E Polymorphisms Influence Risk of Cognitive Decline by Modulating Omega-3 Fatty Acid Metabolism? Completed NCT01577004
26 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
27 Palmitate Breath Test to Assess Fatty Acid Oxidation in Non Alcoholic Fatty Liver Disease (NAFLD) Recruiting NCT02363309
28 Longitudinal Study of Mitochondrial Hepatopathies Recruiting NCT01148550
29 Heart and Muscle Metabolism in Barth Syndrome Recruiting NCT01625663
30 Glutathione and Fuel Oxidation in Aging Recruiting NCT01870193
31 The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism Recruiting NCT01780168
32 The Effect of a High-fat vs. High-sugar Diet on Liver Fat Accumulation and Metabolism Recruiting NCT03145350
33 Liver Positron Emission Tomography (PET) Study of Non Alcoholic Fatty Liver Disease Active, not recruiting NCT00949403
34 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin
35 Triheptanoin (UX007) to Treat Citrate Transporter Deficiency No longer available NCT02500082 triheptanoin
36 Mitochondrial Dysfunction in Type 2 Diabetes Mellitus and Capacity for Fat Oxidation During Exercise Terminated NCT00382473

Search NIH Clinical Center for Fatty Acid Oxidation Disorders

Genetic Tests for Fatty Acid Oxidation Disorders

Genetic tests related to Fatty Acid Oxidation Disorders:

id Genetic test Affiliating Genes
1 Fatty Acid Oxidation Disorders 24

Anatomical Context for Fatty Acid Oxidation Disorders

MalaCards organs/tissues related to Fatty Acid Oxidation Disorders:

39
Liver, Heart, Testes, Kidney, Skin, Skeletal Muscle, Placenta

Publications for Fatty Acid Oxidation Disorders

Articles related to Fatty Acid Oxidation Disorders:

(show top 50) (show all 83)
id Title Authors Year
1
UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. ( 28189603 )
2017
2
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening. ( 27928776 )
2017
3
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. ( 28871440 )
2017
4
Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders. ( 27927213 )
2016
5
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. ( 27590926 )
2016
6
Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review. ( 26116311 )
2015
7
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders. ( 28649538 )
2015
8
Impact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's box. ( 25761966 )
2015
9
Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies. ( 26589966 )
2015
10
Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial. ( 24453079 )
2014
11
Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned? ( 25310995 )
2014
12
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. ( 23798014 )
2013
13
Fatty Acid oxidation disorders in a chinese population in taiwan. ( 23700290 )
2013
14
Muscle MRI in patients with long-chain fatty acid oxidation disorders. ( 24305961 )
2013
15
Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability. ( 23674167 )
2013
16
The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. ( 23867825 )
2013
17
Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults. ( 23524598 )
2013
18
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. ( 21630065 )
2012
19
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay. ( 22841441 )
2012
20
[Acute fatty liver in pregnancy: revealing fetal fatty acid oxidation disorders]. ( 22325456 )
2012
21
Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans. ( 21156023 )
2011
22
Rubratoxin B induces signs of fatty acid oxidation disorders (FAODs) in mice. ( 21835235 )
2011
23
Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. ( 20830526 )
2010
24
ESI-MS/MS measurement of free carnitine and its precursor I^-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders. ( 20637671 )
2010
25
Pathophysiology of fatty acid oxidation disorders. ( 20824345 )
2010
26
Fatty acid oxidation disorders: outcome and long-term prognosis. ( 20049534 )
2010
27
Update on mitochondrial fatty acid oxidation disorders. ( 20842433 )
2010
28
Fatty acid oxidation disorders: maternal health and neonatal outcomes. ( 19926542 )
2010
29
Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. ( 20449660 )
2010
30
Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models. ( 20532823 )
2010
31
Clinical and biochemical monitoring of patients with fatty acid oxidation disorders. ( 20066495 )
2010
32
Mitochondrial fatty acid oxidation disorders. Proceedings of an international symposium. October 2008. Fulda, Germany. ( 21275107 )
2010
33
Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders. ( 19422814 )
2009
34
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders. ( 18392740 )
2008
35
Mitochondrial fatty-acid oxidation disorders. ( 18708005 )
2008
36
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]. ( 18067086 )
2007
37
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. ( 17301002 )
2007
38
3-hydroxyacyl-CoA dehydrogenase (HAD) deficiency replaces short-chain hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency as well as medium- and short-chain hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency as the consensus name of this fatty acid oxidation disorder. ( 17434778 )
2007
39
A retrospective ESI-MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhood. ( 17641825 )
2007
40
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. ( 16297647 )
2006
41
Potential of fibrates in the treatment of fatty acid oxidation disorders: revival of classical drugs? ( 16763897 )
2006
42
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. ( 15817498 )
2005
43
Fatty acid oxidation disorder as a cause of sudden infant death syndrome (SIDS)--a case report. ( 16366103 )
2005
44
Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts. ( 15638818 )
2005
45
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. ( 16115821 )
2005
46
The association between acute fatty liver of pregnancy and fatty acid oxidation disorders. ( 15673650 )
2005
47
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome? ( 15858960 )
2005
48
Implications of impaired ketogenesis in fatty acid oxidation disorders. ( 14769488 )
2004
49
Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. ( 12582009 )
2003
50
Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination. ( 12828998 )
2003

Variations for Fatty Acid Oxidation Disorders

Expression for Fatty Acid Oxidation Disorders

Search GEO for disease gene expression data for Fatty Acid Oxidation Disorders.

Pathways for Fatty Acid Oxidation Disorders

Pathways related to Fatty Acid Oxidation Disorders according to GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ACADL ACADM ACADS ACADVL CPT1A CPT2
2
Show member pathways
12.68 ACADL ACADM ACADS ACADVL CPT1A CPT2
3
Show member pathways
12.04 ACADM ACADS HADHA
4 11.9 ACADM CPT1A HADHA
5
Show member pathways
11.75 ACADM ACADS HADHA
6
Show member pathways
11.59 ACADL ACADM ACADS ACADVL HADHA
7 11.49 ACADL ACADM CPT1A CPT2 PPARA SCP2
8
Show member pathways
11.46 ACADL ACADM ACADS ACADVL CPT1A CPT2
9
Show member pathways
11.38 ACADL HSD17B4 SCP2
10 11.28 ACADM ACADVL CPT1A
11
Show member pathways
11.14 ACADS HADHA
12 11.13 ACADM CPT1A CPT2 PPARA SCP2
13
Show member pathways
11.07 ACADM HADHA
14 11.03 ACADM HADHA
15
Show member pathways
11 ACADL ACADM ACADS ACADVL CPT1A CPT2
16 10.65 CPT1A CPT2 SLC25A20

GO Terms for Fatty Acid Oxidation Disorders

Cellular components related to Fatty Acid Oxidation Disorders according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 ACADL ACADM ACADS ACADVL
2 mitochondrial inner membrane GO:0005743 9.43 ACADVL CPT1A CPT2 HADHA SLC25A13 SLC25A20
3 mitochondrial nucleoid GO:0042645 9.37 ACADVL HADHA
4 mitochondrion GO:0005739 9.36 ACADL ACADM ACADS ACADVL CPT1A CPT2
5 peroxisomal matrix GO:0005782 9.32 HSD17B4 SCP2
6 mitochondrial membrane GO:0031966 8.96 ACADL

Biological processes related to Fatty Acid Oxidation Disorders according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.91 ACADL ACADM ACADS ACADVL HADHA HSD17B4
2 metabolic process GO:0008152 9.85 ACADL ACADM ACADS ACADVL HADHA SCP2
3 lipid metabolic process GO:0006629 9.81 ACADL ACADM ACADS ACADVL CPT1A CPT2
4 regulation of lipid metabolic process GO:0019216 9.71 ACADM CPT1A CPT2 PPARA
5 fatty acid metabolic process GO:0006631 9.61 ACADL ACADM ACADS ACADVL CPT1A CPT2
6 response to cold GO:0009409 9.58 ACADM ACADVL
7 bile acid biosynthetic process GO:0006699 9.58 HSD17B4 SCP2
8 temperature homeostasis GO:0001659 9.57 ACADL ACADVL
9 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.56 HSD17B4 SCP2
10 negative regulation of fatty acid biosynthetic process GO:0045717 9.55 ACADL ACADVL
11 alpha-linolenic acid metabolic process GO:0036109 9.54 HSD17B4 SCP2
12 regulation of cholesterol metabolic process GO:0090181 9.52 ACADL ACADVL
13 positive regulation of fatty acid beta-oxidation GO:0032000 9.51 CPT1A PPARA
14 carnitine shuttle GO:0006853 9.5 CPT1A CPT2 SLC25A20
15 carnitine metabolic process GO:0009437 9.49 ACADM CPT1A
16 negative regulation of fatty acid oxidation GO:0046322 9.48 ACADL ACADVL
17 carnitine metabolic process, CoA-linked GO:0019254 9.46 ACADL ACADM
18 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.43 ACADL ACADM ACADVL
19 fatty acid beta-oxidation GO:0006635 9.23 ACADL ACADM ACADS ACADVL CPT1A CPT2

Molecular functions related to Fatty Acid Oxidation Disorders according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.8 ACADL ACADM ACADS ACADVL HADHA HSD17B4
2 transferase activity, transferring acyl groups GO:0016746 9.65 CPT1A CPT2 SCP2
3 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.46 HADHA HSD17B4
4 flavin adenine dinucleotide binding GO:0050660 9.46 ACADL ACADM ACADS ACADVL
5 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.43 ACADL ACADVL
6 fatty-acyl-CoA binding GO:0000062 9.43 ACADL HADHA SCP2
7 carnitine O-palmitoyltransferase activity GO:0004095 9.4 CPT1A CPT2
8 long-chain-enoyl-CoA hydratase activity GO:0016508 9.37 HADHA HSD17B4
9 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACADL ACADM ACADS ACADVL
10 acyl-CoA dehydrogenase activity GO:0003995 8.92 ACADL ACADM ACADS ACADVL

Sources for Fatty Acid Oxidation Disorders

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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