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CPT2DI
MCID: CRN296
MIFTS: 65

Carnitine Palmitoyltransferase Ii Deficiency, Infantile (CPT2DI)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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MalaCards integrated aliases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

Name: Carnitine Palmitoyltransferase Ii Deficiency, Infantile 56 29 6 39 71
Carnitine Palmitoyltransferase Ii Deficiency 12 74 24 25 58 36 29 54 6 15
Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia 56 73
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular 56 73
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 39 71
Carnitine Palmitoyltransferase Deficiency Type 2 52 58
Carnitine Palmitoyl Transferase 2 Deficiency 43 71
Carnitine Palmitoyltransferase 2 Deficiency 52 25
Cpt Ii Deficiency, Hepatic 56 73
Cpt2 Deficiency, Infantile 56 73
Cpt Ii Deficiency 24 25
Cpt2 52 58
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form 58
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form 58
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form 58
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 58
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 71
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency 12
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency 12
Infantile Carnitine Palmitoyltransferase Ii Deficiency 12
Carnitine Palmitoyltransferase 2 Deficiency, Infantile 73
Carnitine Palmitoyltransferase Ii Deficiency 52
Cptii, Hepatocardiomuscular Form 58
Cpt Deficiency, Hepatic, Type Ii 13
Cpt2, Hepatocardiomuscular Form 58
Cpt Ii Deficiency, Infantile 56
Cptii, Severe Infantile Form 58
Cpt2, Severe Infantile Form 58
Cpt2 Deficiency 25
Cpt-Ii 12
Cpt2di 73
Cptii 58

Characteristics:

Orphanet epidemiological data:

58
carnitine palmitoyltransferase ii deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: All ages;
carnitine palmitoyl transferase ii deficiency, severe infantile form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy (3 months on)
precipitated by febrile illness and fasting
see also lethal neonatal and adult forms


HPO:

31
carnitine palmitoyltransferase ii deficiency, infantile:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Sources

Summaries for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

About this section
Genetics Home Reference : 25 Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. Infants with this form of the disorder develop respiratory failure, seizures, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heart beat (arrhythmia). Affected individuals also have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. In many cases, the brain and kidneys are also structurally abnormal. Infants with the lethal neonatal form of CPT II deficiency usually live for a few days to a few months. The severe infantile hepatocardiomuscular form of CPT II deficiency affects the liver, heart, and muscles. Signs and symptoms usually appear within the first year of life. This form involves recurring episodes of hypoketotic hypoglycemia, seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. Problems related to this form of CPT II deficiency can be triggered by periods of fasting or by illnesses such as viral infections. Individuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death. The myopathic form is the least severe type of CPT II deficiency. This form is characterized by recurrent episodes of muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode usually occurs during childhood or adolescence. Most people with the myopathic form of CPT II deficiency have no signs or symptoms of the disorder between episodes.

MalaCards based summary : Carnitine Palmitoyltransferase Ii Deficiency, Infantile, also known as carnitine palmitoyltransferase ii deficiency, is related to encephalopathy, progressive, early-onset, with episodic rhabdomyolysis and mitochondrial metabolism disease, and has symptoms including seizures, vomiting and myalgia. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Infantile is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. The drugs Bezafibrate and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are hepatomegaly and muscle weakness

Disease Ontology : 12 A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.

NIH Rare Diseases : 52 Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar ), cardiomyopathy , seizures , and early death. The myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue ). Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern. Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.

OMIM : 56 Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Laboratory studies usually indicate hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated levels of creatine kinase (summary by Longo et al., 2006). See also the lethal neonatal (608836) and adult-onset (255110) forms of the disorder, which are also caused by mutation in the CPT2 gene. (600649)

KEGG : 36 Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form.

UniProtKB/Swiss-Prot : 73 Carnitine palmitoyltransferase 2 deficiency, infantile: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.

Wikipedia : 74 Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic... more...

GeneReviews: NBK1253
Sources

Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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Diseases related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 31.6 CPT2 ACADVL
2 mitochondrial metabolism disease 31.6 SLC25A20 ETFDH CPT2 ACADS
3 propionic acidemia 31.6 HADHA CPT2 ACADVL ACADS
4 myoglobinuria, recurrent 31.3 CPT2 ACADVL
5 dilated cardiomyopathy 30.7 SLC27A1 SLC22A5 PPARA HADHA CPT2 ACADVL
6 myoglobinuria 30.6 HADH ETFDH CPT2 AMPD1 ACADVL
7 metabolic myopathy 30.6 SLC25A20 AMPD1
8 body mass index quantitative trait locus 11 30.4 SLC27A1 PPARA GOT2 CPT2 CPT1B CPT1A
9 malignant hyperthermia 30.2 CPT2 AMPD1 ACADS
10 respiratory failure 30.2 PPARA HADHA CPT2 ACADVL
11 mitochondrial trifunctional protein deficiency 30.2 SLC25A20 HADHA HADH ETFDH CPT2 ACADVL
12 carnitine-acylcarnitine translocase deficiency 30.2 SLC25A20 HADHA CPT2 CPT1A ACADVL
13 acyl-coa dehydrogenase, short-chain, deficiency of 30.1 SLC22A5 HADHA HADH ETFDH CPT2 ACADVL
14 carnitine palmitoyltransferase i deficiency 30.1 HADHA CRAT CPT2 CPT1C CPT1B CPT1A
15 reye syndrome 29.9 SLC22A5 HADHA ETFDH ACADM
16 carnitine deficiency, systemic primary 29.8 SLC25A20 SLC22A5 HADHA HADH ETFDH CPT2
17 atrial standstill 1 29.4 SLC25A20 SLC22A5 MLYCD HADHA CPT2 ACADVL
18 acyl-coa dehydrogenase, very long-chain, deficiency of 29.4 SLC25A20 SLC22A5 HADHA HADH ETFDH CPT2
19 acyl-coa dehydrogenase, medium-chain, deficiency of 29.4 SLC25A20 SLC22A5 HADHA HADH ETFDH CPT2
20 multiple acyl-coa dehydrogenase deficiency 29.2 SLC25A20 SLC22A5 HADHA HADH ETFDH CPT2
21 hypoglycemia 28.7 SLC25A20 SLC22A5 HADHA HADH CPT2 CPT1A
22 myopathy 28.3 SLC25A20 SLC22A5 PPARA HADHA HADH ETFDH
23 carnitine palmitoyltransferase ii deficiency, lethal neonatal 13.1
24 arthritis 11.3
25 diabetes mellitus, noninsulin-dependent 11.2
26 abetalipoproteinemia 11.2
27 glycogen storage disease v 11.2
28 pancytopenia 11.2
29 glycogen storage disease 11.2
30 chronic pain 11.2
31 dysautonomia 11.2
32 glycogen storage disease iv 11.0
33 isolated elevated serum creatine phosphokinase levels 11.0
34 acute hemorrhagic encephalitis 11.0
35 autosomal recessive disease 10.6
36 acute kidney failure 10.5
37 hydrocephalus 10.3
38 kidney disease 10.3
39 hypotonia 10.3
40 renal dysplasia 10.3
41 traumatic brain injury 10.3
42 fatty liver disease, nonalcoholic 1 10.2 PPARA HADHA
43 muscular lipidosis 10.2 ETFDH ACADS
44 visceral steatosis 10.2 SLC22A5 CPT1B CPT1A
45 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 10.2
46 brain injury 10.2
47 isovaleric acidemia 10.2 HADHA ACADVL ACADS
48 alcoholic cardiomyopathy 10.1 PPARA ACADM
49 hepatocellular carcinoma 10.1
50 migraine with or without aura 1 10.1

Graphical network of the top 20 diseases related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:



Diseases related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile
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Symptoms & Phenotypes for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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Human phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Occasional (29-5%),Occasional (29-5%) HP:0002240
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001324
3 myopathy 58 31 hallmark (90%) Frequent (79-30%),Frequent (79-30%) HP:0003198
4 myalgia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003326
5 elevated hepatic transaminase 58 31 hallmark (90%) Occasional (29-5%) HP:0002910
6 cardiomyopathy 58 31 hallmark (90%) Very rare (<4-1%),Occasional (29-5%) HP:0001638
7 hypoketotic hypoglycemia 58 31 hallmark (90%) Very rare (<4-1%),Occasional (29-5%) HP:0001985
8 seizure 31 hallmark (90%) HP:0001250
9 abnormal circulating long-chain fatty-acid concentration 31 hallmark (90%) HP:0010964
10 abnormal circulating acetylcarnitine concentration 31 hallmark (90%) HP:0012071
11 arrhythmia 58 31 frequent (33%) Very rare (<4-1%),Occasional (29-5%) HP:0011675
12 cerebral calcification 58 31 frequent (33%) Very rare (<4-1%) HP:0002514
13 renal insufficiency 31 frequent (33%) HP:0000083
14 nausea and vomiting 31 frequent (33%) HP:0002017
15 multicystic kidney dysplasia 31 frequent (33%) HP:0000003
16 hepatic failure 58 31 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%) HP:0001399
17 coma 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001259
18 hypoglycemia 31 occasional (7.5%) HP:0001943
19 sudden cardiac death 31 occasional (7.5%) HP:0001645
20 encephalitis 31 occasional (7.5%) HP:0002383
21 elevated serum creatine kinase 58 31 Frequent (79-30%),Frequent (79-30%) HP:0003236
22 seizures 58 Occasional (29-5%),Occasional (29-5%)
23 hydrocephalus 58 Very rare (<4-1%)
24 vomiting 31 HP:0002013
25 cardiomegaly 31 HP:0001640
26 hepatic steatosis 58 Occasional (29-5%)
27 dilated cardiomyopathy 31 HP:0001644
28 neonatal respiratory distress 58 Very rare (<4-1%)
29 hyperlipidemia 58 Frequent (79-30%)
30 dandy-walker malformation 58 Occasional (29-5%)
31 polycystic kidney dysplasia 58 Very rare (<4-1%)
32 agenesis of corpus callosum 58 Very rare (<4-1%)
33 hyperammonemia 31 HP:0001987
34 headache 58 Occasional (29-5%),Frequent (79-30%)
35 polymicrogyria 58 Very rare (<4-1%)
36 lethargy 31 HP:0001254
37 abnormality of neuronal migration 58 Very rare (<4-1%)
38 pachygyria 58 Very rare (<4-1%)
39 cerebellar vermis hypoplasia 58 Very rare (<4-1%)
40 tubulointerstitial nephritis 58 Occasional (29-5%)
41 intermittent painful muscle spasms 58 Occasional (29-5%),Frequent (79-30%)
42 stage 5 chronic kidney disease 58 Occasional (29-5%)
43 abnormality of the basal ganglia 58 Very rare (<4-1%)
44 abnormality of brain morphology 58 Very rare (<4-1%)
45 cystic renal dysplasia 58 Very rare (<4-1%)
46 episodic abdominal pain 58 Occasional (29-5%),Frequent (79-30%)
47 exercise-induced myalgia 58 Frequent (79-30%),Frequent (79-30%)
48 hepatic calcification 58 Very rare (<4-1%)
49 exercise intolerance 58 Frequent (79-30%),Frequent (79-30%)
50 ventricular hypertrophy 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
macrovesicular steatosis

Abdomen Gastrointestinal:
vomiting

Laboratory Abnormalities:
hyperammonemia
increased creatine kinase
decreased carnitine palmitoyltransferase ii (cpt2) activity
decreased levels of cpt2 protein
decreased palmitate oxidation
more
Respiratory:
respiratory arrest

Neurologic Central Nervous System:
seizures
lethargy

Cardiovascular Heart:
cardiomegaly
dilated cardiomyopathy

Metabolic Features:
hypoketotic hypoglycemia

Clinical features from OMIM:

600649

UMLS symptoms related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:


seizures, vomiting, myalgia, apnea, lethargy, respiratory distress, muscle cramp, muscular stiffness

GenomeRNAi Phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.75 PPARA
2 Decreased viability GR00221-A-2 9.75 CPT2 PPARA
3 Decreased viability GR00221-A-3 9.75 PPARA
4 Decreased viability GR00221-A-4 9.75 CPT2 PPARA
5 Decreased viability GR00249-S 9.75 ACADM ACOX1 AMPD1 CRAT HADH SLC22A5
6 Decreased viability GR00301-A 9.75 PPARA
7 Decreased viability GR00381-A-1 9.75 GOT2 MLYCD PPARA
8 Decreased viability GR00386-A-1 9.75 ACADL ACADM ACADS HADHA SLC27A1
9 Decreased viability GR00402-S-2 9.75 ACADL ACADM ACADS ACADVL CPT2 SLC22A5

MGI Mouse Phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ACADL ACADM ACADS ACADVL ACOX1 AMPD1
2 cardiovascular system MP:0005385 10.15 ACADL ACADM ACADVL CPT1A CPT2 CRAT
3 mortality/aging MP:0010768 10 ACADL ACADM ACADS ACADVL AMPD1 CPT1A
4 liver/biliary system MP:0005370 9.96 ACADL ACADM ACADS ACADVL ACOX1 CPT1C
5 muscle MP:0005369 9.61 ACADM ACADS ACADVL AMPD1 CPT1C CRAT
6 renal/urinary system MP:0005367 9.17 ACADL ACADS HADH HADHA PPARA SLC22A5
Sources

Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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Drugs for Carnitine Palmitoyltransferase Ii Deficiency, Infantile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
2
Glycerol Approved, Investigational Phase 2 56-81-5 753
3
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
4
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
5 Strawberry Approved Phase 2
6
Sorbitol Approved Phase 2 50-70-4 5780
7
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
8 Hypolipidemic Agents Phase 2
9 Lipid Regulating Agents Phase 2
10 Antimetabolites Phase 2
11 Laxatives Phase 2
12 Cathartics Phase 2
13 Nicotinic Acids Phase 2
14 Vitamin B3 Phase 2
15 Gastrointestinal Agents Phase 2
16 N-monoacetylcystine Phase 2
17 Liver Extracts Phase 2
18 carnitine Phase 2
19
Serine Investigational, Nutraceutical Phase 2 56-45-1 5951
20
Methylphenidate Approved, Investigational 113-45-1 4158
21
Resveratrol Investigational 501-36-0 445154
22 Analgesics, Non-Narcotic
23 Analgesics
24 Antioxidants
25 Platelet Aggregation Inhibitors
26 Protective Agents
27 Anti-Inflammatory Agents
28 Antirheumatic Agents
29 Anti-Inflammatory Agents, Non-Steroidal
30 pyruvate

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Clinical Trial on the Effect of Bezafibrate in the Muscular Form of Carnitine Palmitoyltransferase 2 Deficiency Unknown status NCT00336167 Phase 3 bezafibrate (drug)
2 Evaluation of the Effect of Bezafibrate on Muscle Metabolism During Exercise in Patients With CPTII and VLCAD Deficiency Completed NCT00983788 Phase 2 Bezafibrate
3 An Open-label Phase 2 Study to Assess Safety and Clinical Effects of UX007 in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Completed NCT01886378 Phase 2 UX007
4 Phase 2 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorders Completed NCT01379625 Phase 2 Triheptanoin
5 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
6 A Phase 2, Randomized, Placebo Controlled Study to Evaluate the Efficacy, Tolerability and Safety of Metabolic Cofactor Supplementation in Alzheimer's Disease (AD) And Parkinson's Disease (PD) Patients Recruiting NCT04044131 Phase 2 Metabolic Cofactor Supplementation;Sorbitol
7 A Phase 2, Randomised, Placebo Controlled Study to Evaluate the Efficacy, Tolerability and Safety of Metabolic Cofactor Supplementation in Obese Subjects With Non-Alcoholic Fatty Liver Disease (NAFLD) Recruiting NCT04330326 Phase 2 Metabolic Cofactor Supplementation;Sorbitol
8 An Open-label Long-Term Safety and Efficacy Extension Study in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies Enrolling by invitation NCT02214160 Phase 2 UX007
9 Randomized Controlled Trial With Use of Cognitive Training in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder Unknown status NCT02184598
10 Rhabdomyolysis in Basic Training Completed NCT00601029
11 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders: A Double-blind, Placebo-controlled, Cross Over Study Completed NCT03728777
12 Evaluation on the Effect on Cognition and Emotional Exhaustion With a Change of Long Night Shift System Versus Reduced Night Shift in Residents of Internal Medicine Completed NCT04053556
13 Dietary Therapy of Mitochondrial Fatty Acids Oxidation. A Clinical Study of Treatment With Odd Carbons Medium-chain Fatty Acids Completed NCT00328159 Oil special 107 and MYGLIOL 810
14 Role of Novel Urinary Genomic and Metablomic Markers in Diagnosis of Bladder Cancer in Patients With Hematuria Completed NCT04317261
15 Role of Circadian and Homeostatic Systems in the Regulation of Wakefulness in Adult Patients With Attention Deficit Disorder With or Without Hyperactivity Completed NCT02217371
16 Effectiveness of Meta-Cognitive Training (EMC) on Symptmos, Metacognition, Social and Neuropsychological Functioning in People With Psychosis of Brief Evolution Completed NCT02340559
17 Efficacy of an Attentional Process Training Using Competitive Versus Non Competitive Strategies Completed NCT02220816
18 To Explore the Influence of Appetite Reduction and Medication Effect of Methylphenidate in Patients With Attention-deficit/Hyperactivity Disorder Through Pharmacogenetics. Recruiting NCT04006548
19 Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease Recruiting NCT03678324
20 Longitudinal Associations Between Changes in Sleep Duration and Blood Pressure Across School Holiday in Sleep-deprived Teenagers Recruiting NCT03895710
21 Standing Balance as the Fifth Vital Sign in Clinical Setting Active, not recruiting NCT04139642
22 Dietary Therapy for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin
23 UX007-EAP101: An Open-label Intermediate-size Treatment Protocol for the Urgent Treatment of Seriously Ill Patients With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) With Triheptanoin (UX007). // UX007G-EAP102: An Open-label Intermediate-size Treatment Protocol for the Urgent Treatment of Seriously Ill Patients With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) With Triheptanoin (UX007) Available NCT03773770 Triheptanoin
24 Prevalence of Obstructive Sleep Apnoea Among Adolescents in the General Population Not yet recruiting NCT03895775

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Cochrane evidence based reviews: carnitine palmitoyl transferase 2 deficiency

Sources

Genetic Tests for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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Genetic tests related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

# Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency 29 CPT2
2 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 29 CPT2
Sources

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

40
Liver, Heart, Kidney, Brain, Skeletal Muscle, Testes, Whole Blood
Sources

Publications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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Articles related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

(show top 50) (show all 153)
# Title Authors PMID Year
1
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. 61 54 24 6 56
18550408 2008
2
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. 61 56 24 54 6
12410208 2002
3
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. 61 54 56 6
8682496 1996
4
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. 56 54 6 61
8651281 1996
5
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. 56 6 54 61
1528846 1992
6
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. 61 6 56 54
1999498 1991
7
Antenatal presentation of carnitine palmitoyltransferase II deficiency. 6 24 61 54
11477613 2001
8
Novel mutations associated with carnitine palmitoyltransferase II deficiency. 6 24 54 61
10090476 1999
9
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. 6 24
15622536 2005
10
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. 6 24
10873395 2000
11
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. 61 54 6
7711730 1995
12
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. 24 61 54
18645163 2008
13
No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. 54 24 61
18430572 2008
14
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. 24 54 61
16996287 2006
15
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. 54 24 61
15754283 2005
16
Carnitine Palmitoyltransferase II Deficiency 61 6
20301431 2004
17
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. 61 54 24
14615409 2003
18
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. 24 54 61
12707442 2003
19
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. 24 61 54
12362414 2002
20
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. 54 61 24
11999976 2002
21
Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. 61 54 24
9924637 1999
22
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. 54 61 24
9600456 1998
23
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
24
Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency. 6
23184072 2012
25
[Myopathy in the course of carnitine palmitoyltransferase II deficiency]. 61 24
23319229 2012
26
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. 24 61
21641254 2011
27
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. 56
18925671 2008
28
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. 61 24
18577113 2008
29
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. 6
17709715 2007
30
Disorders of carnitine transport and the carnitine cycle. 56
16602102 2006
31
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. 24 61
15642848 2005
32
Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. 61 24
12638078 2003
33
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. 61 24
11389301 2001
34
Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. 6
10398215 1999
35
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. 6
8786066 1996
36
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. 6
8358442 1993
37
Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts. 6
736528 1978
38
Diagnostic pitfall in antenatal manifestations of CPT II deficiency. 24
25827434 2016
39
Malony-CoA inhibits the S113L variant of carnitine-palmitoyltransferase II. 24
26477380 2016
40
Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned? 24
25310995 2015
41
Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy. 24
23969168 2014
42
Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. 24
24398345 2014
43
Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial. 24
24453079 2014
44
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. 24
24088670 2013
45
Differences between acylcarnitine profiles in plasma and bloodspots. 24
23639448 2013
46
Expanding mutation spectrum in CPT II gene: identification of four novel mutations. 24
23475205 2013
47
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 24
21913903 2012
48
Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. 24
20934285 2011
49
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. 24
20810031 2011
50
Post-mortem MRI reveals CPT2 deficiency after sudden infant death. 24
20661589 2010
Sources

Variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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ClinVar genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

6 (show top 50) (show all 264) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CPT2 NM_000098.3(CPT2):c.98del (p.Gln33fs)deletion Pathogenic 495549 rs917744011 1:53662713-53662713 1:53197041-53197041
2 CPT2 NM_000098.3(CPT2):c.723_724AC[1] (p.His242fs)short repeat Pathogenic 529859 rs1238901632 1:53676069-53676070 1:53210397-53210398
3 CPT2 NM_000098.3(CPT2):c.1784del (p.Pro595fs)deletion Pathogenic 577198 rs760255368 1:53679072-53679072 1:53213400-53213400
4 CPT2 NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)deletion Pathogenic 653761 1:53678956-53678957 1:53213284-53213285
5 CPT2 NC_000001.11:g.(?_53196934)_(53197105_?)deldeletion Pathogenic 831734 1:53662606-53662777
6 CPT2 NC_000001.11:g.(?_53200709)_(53202439_?)deldeletion Pathogenic 832209 1:53666381-53668111
7 CPT2 NM_000098.3(CPT2):c.204del (p.Lys69fs)deletion Pathogenic 863864 1:53666442-53666442 1:53200770-53200770
8 CPT2 NM_000098.3(CPT2):c.254_255AG[1] (p.Ser86fs)short repeat Pathogenic 856230 1:53668015-53668016 1:53202343-53202344
9 CPT2 NM_000098.3(CPT2):c.664_668AACTC[1] (p.Thr224fs)short repeat Pathogenic 863777 1:53676008-53676012 1:53210336-53210340
10 CPT2 NM_000098.3(CPT2):c.896G>A (p.Trp299Ter)SNV Pathogenic 862629 1:53676242-53676242 1:53210570-53210570
11 CPT2 NM_000098.3(CPT2):c.1444_1645+364deldeletion Pathogenic 840887 1:53676790-53677355 1:53211118-53211683
12 CPT2 NM_000098.3(CPT2):c.1152_1153insSVAelementinsertion Pathogenic 870227 1:53676498-53676499 1:53210826-53210827
13 CPT2 NM_000098.3(CPT2):c.1932dup (p.Glu645fs)duplication Pathogenic 837370 1:53679221-53679222 1:53213549-53213550
14 CPT2 NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)SNV Pathogenic 8952 rs74315293 1:53679181-53679181 1:53213509-53213509
15 CPT2 NM_000098.3(CPT2):c.149C>A (p.Pro50His)SNV Pathogenic 8954 rs28936375 1:53662764-53662764 1:53197092-53197092
16 CPT2 NM_000098.3(CPT2):c.641T>C (p.Met214Thr)SNV Pathogenic 130886 rs515726174 1:53675987-53675987 1:53210315-53210315
17 CPT2 NM_000098.3(CPT2):c.983A>G (p.Asp328Gly)SNV Pathogenic 130887 rs515726175 1:53676329-53676329 1:53210657-53210657
18 CPT2 NM_000098.3(CPT2):c.1145G>A (p.Arg382Lys)SNV Pathogenic 130888 rs515726176 1:53676491-53676491 1:53210819-53210819
19 CPT2 NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)deletion Pathogenic 92430 rs397509431 1:53676584-53676585 1:53210912-53210913
20 CPT2 NM_000098.3(CPT2):c.1737del (p.Ala578_Tyr579insTer)deletion Pathogenic 130891 rs515726178 1:53679027-53679027 1:53213355-53213355
21 CPT2 NM_000098.3(CPT2):c.1925_1937del (p.Lys642fs)deletion Pathogenic 130892 rs515726179 1:53679212-53679224 1:53213540-53213552
22 CPT2 NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)SNV Pathogenic 203663 rs368311455 1:53676857-53676857 1:53211185-53211185
23 CPT2 NM_000098.3(CPT2):c.852del (p.Glu285fs)deletion Pathogenic 372351 rs1057517729 1:53676194-53676194 1:53210522-53210522
24 CPT2 NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter)indel Pathogenic/Likely pathogenic 371775 rs1057517525 1:53676691-53676691 1:53211019-53211019
25 CPT2 NM_000098.3(CPT2):c.108_109GC[3] (p.Ser38fs)short repeat Pathogenic/Likely pathogenic 371697 rs754363068 1:53662722-53662723 1:53197050-53197051
26 CPT2 NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)SNV Pathogenic/Likely pathogenic 203659 rs201065226 1:53675716-53675716 1:53210044-53210044
27 CPT2 NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)SNV Pathogenic/Likely pathogenic 166953 rs727503887 1:53676232-53676232 1:53210560-53210560
28 CPT2 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)SNV Pathogenic/Likely pathogenic 188753 rs756931329 1:53676715-53676715 1:53211043-53211043
29 CPT2 NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)SNV Pathogenic/Likely pathogenic 130889 rs515726177 1:53675798-53675798 1:53210126-53210126
30 CPT2 NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)SNV Pathogenic/Likely pathogenic 8956 rs28936673 1:53679173-53679173 1:53213501-53213501
31 CPT2 NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)SNV Pathogenic/Likely pathogenic 8958 rs74315295 1:53676494-53676494 1:53210822-53210822
32 CPT2 NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)SNV Pathogenic/Likely pathogenic 8964 rs74315298 1:53676026-53676026 1:53210354-53210354
33 CPT2 NM_000098.3(CPT2):c.1567_1568CA[1] (p.His523fs)short repeat Pathogenic/Likely pathogenic 633182 1:53676913-53676914 1:53211241-53211242
34 CPT2 NM_000098.3(CPT2):c.887G>C (p.Arg296Pro)SNV Likely pathogenic 570807 rs764849762 1:53676233-53676233 1:53210561-53210561
35 CPT2 NM_000098.3(CPT2):c.1595_1601del (p.Met532fs)deletion Likely pathogenic 652620 1:53676938-53676944 1:53211266-53211272
36 CPT2 NM_000098.3(CPT2):c.879_880del (p.Ser293fs)deletion Likely pathogenic 555964 rs1195259425 1:53676224-53676225 1:53210552-53210553
37 CPT2 NM_000098.3(CPT2):c.989dup (p.Ile332fs)duplication Likely pathogenic 558056 rs1553169716 1:53676333-53676334 1:53210661-53210662
38 CPT2 NM_000098.3(CPT2):c.1432C>T (p.Gln478Ter)SNV Likely pathogenic 554598 rs1469108369 1:53676778-53676778 1:53211106-53211106
39 CPT2 NM_000098.3(CPT2):c.1446_1447del (p.Val483fs)deletion Likely pathogenic 551971 rs1553169787 1:53676792-53676793 1:53211120-53211121
40 CPT2 NM_000098.3(CPT2):c.1563del (p.Arg522fs)deletion Likely pathogenic 556730 rs1229197873 1:53676908-53676908 1:53211236-53211236
41 CPT2 NM_000098.3(CPT2):c.1933dup (p.Glu645fs)duplication Likely pathogenic 557241 rs1553170033 1:53679222-53679223 1:53213550-53213551
42 CPT2 NM_000098.3(CPT2):c.401_404del (p.Phe134fs)deletion Likely pathogenic 554891 rs1553169598 1:53675745-53675748 1:53210073-53210076
43 CPT2 NM_000098.3(CPT2):c.670del (p.Thr224fs)deletion Likely pathogenic 551107 rs762366252 1:53676015-53676015 1:53210343-53210343
44 CPT2 NM_000098.3(CPT2):c.606T>G (p.Tyr202Ter)SNV Likely pathogenic 557509 rs755830520 1:53675952-53675952 1:53210280-53210280
45 CPT2 NM_000098.3(CPT2):c.627_630dup (p.Pro211fs)duplication Likely pathogenic 554042 rs1553169629 1:53675972-53675973 1:53210300-53210301
46 CPT2 NM_000098.3(CPT2):c.1375C>T (p.Gln459Ter)SNV Likely pathogenic 554750 rs1553169771 1:53676721-53676721 1:53211049-53211049
47 CPT2 NM_000098.3(CPT2):c.1767del (p.Ser590fs)deletion Likely pathogenic 557080 rs1553169973 1:53679057-53679057 1:53213385-53213385
48 CPT2 NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer)deletion Likely pathogenic 557340 rs1553170029 1:53679218-53679218 1:53213546-53213546
49 CPT2 NM_000098.3(CPT2):c.72_97del (p.Leu25fs)deletion Likely pathogenic 555589 rs1553168850 1:53662682-53662707 1:53197010-53197035
50 CPT2 NM_000098.3(CPT2):c.302del (p.Ala101fs)deletion Likely pathogenic 553015 rs1553169106 1:53668063-53668063 1:53202391-53202391

UniProtKB/Swiss-Prot genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

73
# Symbol AA change Variation ID SNP ID
1 CPT2 p.Tyr628Ser VAR_001398 rs28936673
2 CPT2 p.Arg631Cys VAR_001399 rs74315293

Sources

Expression for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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Search GEO for disease gene expression data for Carnitine Palmitoyltransferase Ii Deficiency, Infantile.
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Pathways for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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Pathways related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to KEGG:

36
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

Pathways related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.97 SLC27A1 SLC25A20 PPARA MLYCD HADHA HADH
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 13.2 SLC25A20 PPARA ETFDH CPT2 CPT1C CPT1B
3
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.39 MLYCD CPT1C CPT1B CPT1A
4
Carbon metabolism 36
Show member pathways
 12.23 HADHA GOT2 ACOX1 ACADS
5
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 65
Show member pathways
 12.21 SLC27A1 SLC25A20 PPARA HADHA HADH CPT2
6
AMPK Enzyme Complex Pathway 63
Show member pathways
 12.19 MLYCD CRAT CPT2 CPT1C CPT1B CPT1A
7
Fatty Acyl-CoA Biosynthesis 65
Show member pathways
 12.15 HADHA HADH CPT2 CPT1C CPT1B CPT1A
8
Valine, leucine and isoleucine degradation 36
Show member pathways
 11.94 HADHA HADH ACADS ACADM
9
Insulin resistance 36
Show member pathways
 11.9 SLC27A1 PPARA CPT1B CPT1A
10
Glucagon signaling pathway 36
11.87 PPARA CPT1C CPT1B CPT1A
11
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism 65
Show member pathways
 11.8 HADHA HADH ACOX1
12
PPAR signaling pathway 36
11.8 SLC27A1 PPARA CPT2 CPT1C CPT1B CPT1A
13
Amino Acid metabolism 1
11.75 HADH GOT2 ACADM
14
Peroxisome 36
11.71 MLYCD CRAT ACOX1
15
Mitochondrial Fatty Acid Beta-Oxidation 65
Show member pathways
 11.7 HADHA HADH ACADVL ACADS ACADM ACADL
16
Adipocytokine signaling pathway 36
11.68 PPARA CPT1C CPT1B CPT1A
17
Mitochondrial LC-Fatty Acid Beta-Oxidation 1
Show member pathways
 11.62 SLC25A20 HADHA HADH CRAT CPT2 CPT1B
18
Peroxisomal lipid metabolism 65
Show member pathways
 11.49 MLYCD CRAT ACOX1
19
fatty acid beta-oxidation (peroxisome) 1
Show member pathways
 11.48 HADH ACOX1 ACADL
20
FOXA2 and FOXA3 transcription factor networks 1
11.44 HADH CPT1C CPT1B CPT1A ACADVL ACADM
21
Propanoate metabolism 36
11.34 MLYCD HADHA ACOX1 ACADS
22
Butanoate metabolism 36
Show member pathways
 11.33 HADHA HADH ACADS
23
beta-Alanine metabolism (KEGG) 36
Show member pathways
 11.33 MLYCD HADHA ACOX1 ACADS
24
PPAR Alpha Pathway 1
11.25 SLC27A1 PPARA CPT2 CPT1A ACADM
25
Import of palmitoyl-CoA into the mitochondrial matrix 65
10.8 SLC25A20 CPT2 CPT1B CPT1A
26
Estrogen Receptor Pathway 1
10.74 PPARA ACOX1
27
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA 65
Show member pathways
 10.7 HADHA HADH ACADM
Sources

GO Terms for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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Cellular components related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.76 SLC27A1 SLC25A20 HADHA GOT2 ETFDH CRAT
2 mitochondrial membrane GO:0031966 9.56 ETFDH ACADVL ACADM ACADL
3 mitochondrial matrix GO:0005759 9.56 MLYCD HADH GOT2 ETFDH ACADVL ACADS
4 peroxisome GO:0005777 9.54 MLYCD CRAT ACOX1
5 mitochondrion GO:0005739 9.53 SLC27A1 SLC25A20 MLYCD HADHA HADH GOT2
6 peroxisomal matrix GO:0005782 9.5 MLYCD CRAT ACOX1

Biological processes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.08 HADHA HADH ETFDH ACOX1 ACADVL ACADS
2 fatty acid beta-oxidation GO:0006635 9.9 HADHA HADH CPT2 CPT1C CPT1B CPT1A
3 response to insulin GO:0032868 9.85 SLC27A1 PPARA HADHA HADH GOT2
4 regulation of lipid metabolic process GO:0019216 9.85 SLC27A1 PPARA CPT2 CPT1A ACOX1 ACADM
5 fatty acid metabolic process GO:0006631 9.83 SLC27A1 PPARA MLYCD HADHA HADH CRAT
6 positive regulation of cold-induced thermogenesis GO:0120162 9.76 HADH CPT2 ACADL
7 protein targeting to peroxisome GO:0006625 9.74 MLYCD CRAT ACOX1
8 carnitine shuttle GO:0006853 9.71 SLC25A20 CPT2 CPT1B CPT1A
9 response to cold GO:0009409 9.69 SLC27A1 ACADVL ACADM
10 fatty acid transport GO:0015908 9.67 SLC27A1 PPARA GOT2
11 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.65 ETFDH ACADVL ACADS ACADM ACADL
12 long-chain fatty acid metabolic process GO:0001676 9.63 SLC27A1 CPT1A
13 temperature homeostasis GO:0001659 9.62 ACADVL ACADL
14 negative regulation of fatty acid biosynthetic process GO:0045717 9.62 ACADVL ACADL
15 carnitine metabolic process GO:0009437 9.62 CPT1C CPT1B CPT1A ACADM
16 fatty acid oxidation GO:0019395 9.61 MLYCD ACOX1
17 long-chain fatty acid transport GO:0015909 9.61 SLC27A1 CPT1B
18 carnitine metabolic process, CoA-linked GO:0019254 9.61 CRAT ACADM ACADL
19 regulation of cholesterol metabolic process GO:0090181 9.6 ACADVL ACADL
20 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.59 CRAT ACOX1
21 positive regulation of fatty acid beta-oxidation GO:0032000 9.58 PPARA CPT1A
22 negative regulation of fatty acid oxidation GO:0046322 9.56 ACADVL ACADL
23 positive regulation of fatty acid oxidation GO:0046321 9.55 PPARA MLYCD
24 medium-chain fatty acid metabolic process GO:0051791 9.54 CRAT ACADM
25 regulation of fatty acid oxidation GO:0046320 9.52 MLYCD CPT1A
26 lipid metabolic process GO:0006629 9.5 SLC27A1 PPARA MLYCD HADHA HADH CRAT

Molecular functions related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.92 HADHA HADH ETFDH ACOX1 ACADVL ACADS
2 transferase activity, transferring acyl groups GO:0016746 9.77 CRAT CPT2 CPT1C CPT1B CPT1A
3 fatty-acyl-CoA binding GO:0000062 9.58 HADHA ACADVL ACADL
4 acyl-CoA dehydrogenase activity GO:0003995 9.56 ACADVL ACADS ACADM ACADL
5 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.55 ACOX1 ACADVL ACADS ACADM ACADL
6 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.49 HADHA HADH
7 acyl-CoA oxidase activity GO:0003997 9.48 CRAT ACOX1
8 palmitoyl-CoA oxidase activity GO:0016401 9.46 ACOX1 ACADL
9 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.43 ACADVL ACADL
10 flavin adenine dinucleotide binding GO:0050660 9.43 ETFDH ACOX1 ACADVL ACADS ACADM ACADL
11 carnitine O-palmitoyltransferase activity GO:0004095 8.92 CPT2 CPT1C CPT1B CPT1A
Sources

Sources for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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