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CPT2DI
MCID: CRN296
MIFTS: 64

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
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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 57 29 6 39 70
Carnitine Palmitoyltransferase Ii Deficiency 12 73 25 43 58 36 29 54 6 15
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 6 39 70
Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia 57 72
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular 57 72
Carnitine Palmitoyltransferase Deficiency Type 2 20 58
Carnitine Palmitoyl Transferase 2 Deficiency 44 70
Carnitine Palmitoyltransferase 2 Deficiency 20 43
Cpt Ii Deficiency, Hepatic 57 72
Cpt2 Deficiency, Infantile 57 72
Cpt Ii Deficiency 25 43
Cpt2 20 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 70
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 72
Carnitine Palmitoyltransferase Ii Deficiency 20
Cptii, Hepatocardiomuscular Form 58
Cpt Deficiency, Hepatic, Type Ii 13
Cpt2, Hepatocardiomuscular Form 58
Cpt Ii Deficiency, Infantile 57
Cptii, Severe Infantile Form 58
Cpt2, Severe Infantile Form 58
Cpt2 Deficiency 43
Cpt-Ii 12
Cpt2di 72
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®:

57 (Updated 20-May-2021)
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:
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

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MedlinePlus Genetics : 43 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 propionic acidemia, 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 Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are muscle weakness and reduced carnitine o-palmitoyltransferase level

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

GARD : 20 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® : 57 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) (Updated 20-May-2021)

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 : 72 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 : 73 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 118)
# Related Disease Score Top Affiliating Genes
1 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 31.5 CPT2 ACADVL
2 propionic acidemia 31.4 HADHA CPT2 ACADVL
3 myoglobinuria 31.1 HADH CPT2 AMPD1 ACADVL
4 myoglobinuria, recurrent 31.0 CPT2 ACADVL
5 acyl-coa dehydrogenase, short-chain, deficiency of 30.7 HADHA HADH ETFDH CPT2 ACADVL ACADM
6 mitochondrial trifunctional protein deficiency 30.5 SLC25A20 HADHA HADH ETFDH CPT2 ACADVL
7 dilated cardiomyopathy 30.5 SLC27A1 SLC22A5 PPARA HADHA GOT2 CPT2
8 carnitine palmitoyltransferase i deficiency 30.3 HADHA CRAT CPT2 CPT1C CPT1B CPT1A
9 carnitine deficiency, systemic primary 30.3 SLC25A20 SLC22A5 HADHA HADH ETFDH CPT2
10 respiratory failure 30.1 PPARA HADHA CPT2 ACADVL
11 metabolic myopathy 30.1 SLC25A20 AMPD1
12 carnitine-acylcarnitine translocase deficiency 29.9 SLC25A20 HADHA ETFDH CPT2 CPT1A ACADVL
13 multiple acyl-coa dehydrogenase deficiency 29.9 SLC25A20 SLC22A5 HADHA HADH ETFDH CPT2
14 myopathy 29.8 SLC22A5 PPARA HADHA ETFDH CRAT CPT2
15 acyl-coa dehydrogenase, medium-chain, deficiency of 29.8 SLC25A20 SLC22A5 HADHA HADH ETFDH CPT2
16 hypoglycemia 29.7 SLC25A20 SLC22A5 HADHA HADH CPT2 CPT1A
17 reye syndrome 29.7 SLC22A5 ETFDH CPT2 ACADM
18 atrial standstill 1 29.3 SLC25A20 SLC22A5 MLYCD HADHA ACADVL
19 fatty liver disease 29.0 PPARA HADHA CPT1A ACOX1 ACADM
20 acyl-coa dehydrogenase, very long-chain, deficiency of 28.5 SLC25A20 SLC22A5 MLYCD HADHA HADH ETFDH
21 carnitine palmitoyltransferase ii deficiency, lethal neonatal 12.0
22 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 12.0
23 type 2 diabetes mellitus 11.0
24 body mass index quantitative trait locus 11 11.0
25 vertical talus, congenital 11.0
26 abetalipoproteinemia 11.0
27 glycogen storage disease v 11.0
28 glycogen storage disease 11.0
29 arthritis 11.0
30 cardiac arrhythmia 10.8
31 glycogen storage disease iv 10.8
32 immunodeficiency 34 10.8
33 isolated elevated serum creatine phosphokinase levels 10.8
34 pancytopenia 10.8
35 acute hemorrhagic encephalitis 10.8
36 nervous system disease 10.8
37 chronic pain 10.8
38 dysautonomia 10.8
39 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.7
40 autosomal recessive disease 10.6
41 acute kidney failure 10.5
42 hydrocephalus 10.3
43 kidney disease 10.3
44 hypotonia 10.3
45 renal dysplasia 10.3
46 acyl-coa dehydrogenase deficiency 10.2 ETFDH ACADVL ACADM
47 visceral steatosis 10.1 SLC22A5 CPT1B CPT1A
48 citrullinemia, classic 10.1 HADHA ETFDH ACADVL
49 dandy-walker syndrome 10.1
50 carbonic anhydrase va deficiency, hyperammonemia due to 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 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001324
2 reduced carnitine o-palmitoyltransferase level 31 hallmark (90%) HP:0012380
3 myopathy 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003198
4 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003236
5 hyperlipidemia 58 31 frequent (33%) Frequent (79-30%) HP:0003077
6 headache 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002315
7 intermittent painful muscle spasms 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0011964
8 episodic abdominal pain 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002574
9 exercise-induced myalgia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003738
10 exercise intolerance 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003546
11 myoglobinuria 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002913
12 exercise-induced muscle cramps 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0003710
13 decreased plasma total carnitine 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0011936
14 cold-induced muscle cramps 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0003449
15 red-brown urine 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0040320
16 decreased plasma free carnitine 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008315
17 elevated circulating acylcarnitine concentration 31 frequent (33%) HP:0045045
18 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002240
19 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
20 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
21 arrhythmia 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0011675
22 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
23 hepatic failure 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0001399
24 cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0001638
25 tubulointerstitial nephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001970
26 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
27 hypoketotic hypoglycemia 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0001985
28 ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001714
29 rhabdomyolysis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003201
30 hypoglycemic encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006929
31 renal tubular epithelial necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008682
32 seizure 31 occasional (7.5%) HP:0001250
33 agenesis of corpus callosum 58 31 very rare (1%) Very rare (<4-1%) HP:0001274
34 cerebral calcification 58 31 very rare (1%) Very rare (<4-1%) HP:0002514
35 hydrocephalus 58 31 very rare (1%) Very rare (<4-1%) HP:0000238
36 neonatal respiratory distress 58 31 very rare (1%) Very rare (<4-1%) HP:0002643
37 polycystic kidney dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000113
38 polymicrogyria 58 31 very rare (1%) Very rare (<4-1%) HP:0002126
39 pachygyria 58 31 very rare (1%) Very rare (<4-1%) HP:0001302
40 coma 58 31 very rare (1%) Very rare (<4-1%) HP:0001259
41 cerebellar vermis hypoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0001320
42 abnormality of the basal ganglia 58 31 very rare (1%) Very rare (<4-1%) HP:0002134
43 cystic renal dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000800
44 hepatic calcification 58 31 very rare (1%) Very rare (<4-1%) HP:0006559
45 seizures 58 Occasional (29-5%),Occasional (29-5%)
46 vomiting 31 HP:0002013
47 cardiomegaly 31 HP:0001640
48 dilated cardiomyopathy 31 HP:0001644
49 myalgia 58 Very frequent (99-80%),Frequent (79-30%)
50 hyperammonemia 31 HP:0001987

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
lethargy

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

Abdomen Liver:
hepatomegaly
macrovesicular steatosis

Cardiovascular Heart:
cardiomegaly
dilated cardiomyopathy

Metabolic Features:
hypoketotic hypoglycemia

Clinical features from OMIM®:

600649 (Updated 20-May-2021)

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 9.72 PPARA
2 Decreased viability GR00221-A-2 9.72 CPT2 PPARA
3 Decreased viability GR00221-A-3 9.72 PPARA
4 Decreased viability GR00221-A-4 9.72 CPT2 PPARA
5 Decreased viability GR00249-S 9.72 ACADM ACOX1 AMPD1 CRAT HADH SLC22A5
6 Decreased viability GR00301-A 9.72 PPARA
7 Decreased viability GR00381-A-1 9.72 GOT2 MLYCD PPARA
8 Decreased viability GR00386-A-1 9.72 ACADL ACADM HADHA SLC27A1
9 Decreased viability GR00402-S-2 9.72 ACADL ACADM ACADVL CPT2 SLC22A5

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.21 ACADL ACADM ACADVL ACOX1 AMPD1 CPT1A
2 cardiovascular system MP:0005385 10.2 ACADL ACADM ACADVL AMPD1 CPT1A CPT1C
3 liver/biliary system MP:0005370 9.85 ACADL ACADM ACADVL ACOX1 AMPD1 CPT1C
4 mortality/aging MP:0010768 9.77 ACADL ACADM ACADVL AMPD1 CPT1A CPT1B
5 muscle MP:0005369 9.23 ACADM ACADVL AMPD1 CPT1C CRAT HADHA
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
2 Hypolipidemic Agents Phase 2
3 carnitine Phase 2
4 Antimetabolites Phase 2
5 Lipid Regulating Agents Phase 2

Interventional clinical trials:


# 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 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 Completed NCT02214160 Phase 2 UX007
4 Role of Circadian and Homeostatic Systems in the Regulation of Wakefulness in Adult Patients With Attention Deficit Disorder With or Without Hyperactivity Completed NCT02217371
5 Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease Recruiting NCT03678324
6 Relationships Between Sleep Spindle and Cognitive Process in Healthy Adults Recruiting NCT04596449

Search NIH Clinical Center for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Cochrane evidence based reviews: carnitine palmitoyl transferase 2 deficiency

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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, Whole Blood, Breast
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 180)
# Title Authors PMID Year
1
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. 61 6 54 57 25
18550408 2008
2
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. 25 6 57 54 61
12410208 2002
3
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. 61 54 57 6
8682496 1996
4
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. 54 61 6 57
8651281 1996
5
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. 57 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 54 6 57
1999498 1991
7
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. 6 25 54 61
18645163 2008
8
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. 54 61 6 25
16996287 2006
9
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. 61 54 6 25
15754283 2005
10
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. 61 54 25 6
14615409 2003
11
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. 61 54 25 6
12707442 2003
12
Antenatal presentation of carnitine palmitoyltransferase II deficiency. 54 6 25 61
11477613 2001
13
Novel mutations associated with carnitine palmitoyltransferase II deficiency. 54 61 6 25
10090476 1999
14
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. 61 54 6 25
9600456 1998
15
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. 6 57
18925671 2008
16
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. 61 25 6
18577113 2008
17
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. 61 25 6
15642848 2005
18
Diagnostic pitfall in antenatal manifestations of CPT II deficiency. 6 25
25827434 2016
19
Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. 25 6
24398345 2014
20
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 25 6
21913903 2012
21
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. 6 25
20810031 2011
22
Post-mortem MRI reveals CPT2 deficiency after sudden infant death. 6 25
20661589 2010
23
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. 6 54 61
19762733 2009
24
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency. 25 6
18363739 2008
25
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency. 6 25
17651973 2007
26
Crystal structure of rat carnitine palmitoyltransferase II (CPT-II). 25 6
16781677 2006
27
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. 6 54 61
15776096 2005
28
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. 25 6
15622536 2005
29
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. 6 25
15363638 2004
30
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. 25 6
12673791 2003
31
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. 25 6
14605500 2003
32
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency. 6 25
12560872 2003
33
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. 6 25
10873395 2000
34
A novel mutation identified in carnitine palmitoyltransferase II deficiency. 54 61 6
9562964 1998
35
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood. 54 61 6
9309694 1997
36
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. 6 54 61
7711730 1995
37
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity. 61 6
28801073 2017
38
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth. 61 6
28516040 2017
39
[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency]. 6 61
27974123 2016
40
First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L. 61 6
27629963 2016
41
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders. 61 6
28649538 2015
42
Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency. 6 61
24602495 2014
43
Fatty Acid oxidation disorders in a chinese population in taiwan. 61 6
23700290 2013
44
Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening. 6 61
21227726 2011
45
Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival. 61 6
21709843 2009
46
No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. 54 61 25
18430572 2008
47
Carnitine Palmitoyltransferase II Deficiency 6 61
20301431 2004
48
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. 61 54 25
12362414 2002
49
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. 61 25 54
11999976 2002
50
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. 6 61
11855939 2002
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 414)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPT2 NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) SNV Pathogenic 8955 rs28936376 GRCh37: 1:53678947-53678947
GRCh38: 1:53213275-53213275
2 CPT2 NM_000098.3(CPT2):c.1360G>T (p.Glu454Ter) SNV Pathogenic 8966 rs74315299 GRCh37: 1:53676706-53676706
GRCh38: 1:53211034-53211034
3 CPT2 NM_000098.3(CPT2):c.1977A>G (p.Ter659=) SNV Pathogenic 1032190 GRCh37: 1:53679267-53679267
GRCh38: 1:53213595-53213595
4 CPT2 NM_000098.3(CPT2):c.347G>A (p.Trp116Ter) SNV Pathogenic 1032191 GRCh37: 1:53675693-53675693
GRCh38: 1:53210021-53210021
5 CPT2 NM_000098.3(CPT2):c.451C>T (p.Arg151Trp) SNV Pathogenic 1032192 GRCh37: 1:53675797-53675797
GRCh38: 1:53210125-53210125
6 CPT2 NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) SNV Pathogenic 203659 rs201065226 GRCh37: 1:53675716-53675716
GRCh38: 1:53210044-53210044
7 CPT2 NM_000098.3(CPT2):c.1784del (p.Pro595fs) Deletion Pathogenic 577198 rs760255368 GRCh37: 1:53679072-53679072
GRCh38: 1:53213400-53213400
8 CPT2 NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) SNV Pathogenic 203663 rs368311455 GRCh37: 1:53676857-53676857
GRCh38: 1:53211185-53211185
9 CPT2 NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) Indel Pathogenic 371775 rs1057517525 GRCh37: 1:53676691-53676691
GRCh38: 1:53211019-53211019
10 CPT2 NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) SNV Pathogenic 203659 rs201065226 GRCh37: 1:53675716-53675716
GRCh38: 1:53210044-53210044
11 CPT2 NC_000001.11:g.(?_53200709)_(53202439_?)del Deletion Pathogenic 832209 GRCh37: 1:53666381-53668111
GRCh38:
12 CPT2 NM_000098.3(CPT2):c.1152_1153insSVAelement Insertion Pathogenic 870227 GRCh37: 1:53676498-53676499
GRCh38: 1:53210826-53210827
13 CPT2 NM_000098.3(CPT2):c.1052G>A (p.Trp351Ter) SNV Pathogenic 962889 GRCh37: 1:53676398-53676398
GRCh38: 1:53210726-53210726
14 CPT2 NM_000098.3(CPT2):c.1608dup (p.Lys537fs) Duplication Pathogenic 553793 rs1553169813 GRCh37: 1:53676952-53676953
GRCh38: 1:53211280-53211281
15 CPT2 NM_000098.3(CPT2):c.836_839del (p.Asp279fs) Deletion Pathogenic 945061 GRCh37: 1:53676179-53676182
GRCh38: 1:53210507-53210510
16 CPT2 NM_000098.3(CPT2):c.989dup (p.Ile332fs) Duplication Pathogenic 558056 rs1553169716 GRCh37: 1:53676333-53676334
GRCh38: 1:53210661-53210662
17 CPT2 NM_000098.3(CPT2):c.1725_1726del (p.Asp576fs) Deletion Pathogenic 948492 GRCh37: 1:53679015-53679016
GRCh38: 1:53213343-53213344
18 CPT2 NM_000098.3(CPT2):c.808C>T (p.Gln270Ter) SNV Pathogenic 953726 GRCh37: 1:53676154-53676154
GRCh38: 1:53210482-53210482
19 CPT2 NM_000098.3(CPT2):c.1244_1245del (p.Leu415fs) Deletion Pathogenic 955252 GRCh37: 1:53676589-53676590
GRCh38: 1:53210917-53210918
20 CPT2 NM_000098.3(CPT2):c.254_255AG[1] (p.Ser86fs) Microsatellite Pathogenic 856230 GRCh37: 1:53668015-53668016
GRCh38: 1:53202343-53202344
21 CPT2 NM_000098.3(CPT2):c.896G>A (p.Trp299Ter) SNV Pathogenic 862629 GRCh37: 1:53676242-53676242
GRCh38: 1:53210570-53210570
22 CPT2 NM_000098.3(CPT2):c.664_668AACTC[1] (p.Thr224fs) Microsatellite Pathogenic 863777 GRCh37: 1:53676008-53676012
GRCh38: 1:53210336-53210340
23 CPT2 NM_000098.3(CPT2):c.204del (p.Lys69fs) Deletion Pathogenic 863864 GRCh37: 1:53666442-53666442
GRCh38: 1:53200770-53200770
24 CPT2 NM_000098.3(CPT2):c.585del (p.Pro196fs) Deletion Pathogenic 956433 GRCh37: 1:53675931-53675931
GRCh38: 1:53210259-53210259
25 CPT2 NM_000098.3(CPT2):c.108_109GC[3] (p.Ser38fs) Microsatellite Pathogenic 371697 rs754363068 GRCh37: 1:53662722-53662723
GRCh38: 1:53197050-53197051
26 CPT2 NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) SNV Pathogenic 8952 rs74315293 GRCh37: 1:53679181-53679181
GRCh38: 1:53213509-53213509
27 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) SNV Pathogenic 8953 rs74315294 GRCh37: 1:53668099-53668099
GRCh38: 1:53202427-53202427
28 CPT2 NM_000098.3(CPT2):c.149C>A (p.Pro50His) SNV Pathogenic 8954 rs28936375 GRCh37: 1:53662764-53662764
GRCh38: 1:53197092-53197092
29 CPT2 NM_000098.3(CPT2):c.149C>A (p.Pro50His) SNV Pathogenic 8954 rs28936375 GRCh37: 1:53662764-53662764
GRCh38: 1:53197092-53197092
30 CPT2 NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) SNV Pathogenic 8959 rs74315296 GRCh37: 1:53676853-53676853
GRCh38: 1:53211181-53211181
31 CPT2 NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) SNV Pathogenic 60702 rs74315297 GRCh37: 1:53676688-53676688
GRCh38: 1:53211016-53211016
32 CPT2 NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) Deletion Pathogenic 92430 rs397509431 GRCh37: 1:53676584-53676585
GRCh38: 1:53210912-53210913
33 CPT2 NM_000098.3(CPT2):c.98del (p.Gln33fs) Deletion Pathogenic 495549 rs917744011 GRCh37: 1:53662713-53662713
GRCh38: 1:53197041-53197041
34 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) SNV Pathogenic 8953 rs74315294 GRCh37: 1:53668099-53668099
GRCh38: 1:53202427-53202427
35 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) SNV Pathogenic 8953 rs74315294 GRCh37: 1:53668099-53668099
GRCh38: 1:53202427-53202427
36 CPT2 NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) SNV Pathogenic 8958 rs74315295 GRCh37: 1:53676494-53676494
GRCh38: 1:53210822-53210822
37 CPT2 NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) SNV Pathogenic 8958 rs74315295 GRCh37: 1:53676494-53676494
GRCh38: 1:53210822-53210822
38 CPT2 NM_000098.3(CPT2):c.149C>A (p.Pro50His) SNV Pathogenic 8954 rs28936375 GRCh37: 1:53662764-53662764
GRCh38: 1:53197092-53197092
39 CPT2 NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) SNV Pathogenic 8956 rs28936673 GRCh37: 1:53679173-53679173
GRCh38: 1:53213501-53213501
40 CPT2 NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) SNV Pathogenic 8952 rs74315293 GRCh37: 1:53679181-53679181
GRCh38: 1:53213509-53213509
41 CPT2 NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) SNV Pathogenic 130889 rs515726177 GRCh37: 1:53675798-53675798
GRCh38: 1:53210126-53210126
42 CPT2 NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) SNV Pathogenic 60702 rs74315297 GRCh37: 1:53676688-53676688
GRCh38: 1:53211016-53211016
43 CPT2 NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) SNV Pathogenic 8968 rs121918528 GRCh37: 1:53675705-53675705
GRCh38: 1:53210033-53210033
44 CPT2 NM_000098.3(CPT2):c.641T>C (p.Met214Thr) SNV Pathogenic 130886 rs515726174 GRCh37: 1:53675987-53675987
GRCh38: 1:53210315-53210315
45 CPT2 NM_000098.3(CPT2):c.1145G>A (p.Arg382Lys) SNV Pathogenic 130888 rs515726176 GRCh37: 1:53676491-53676491
GRCh38: 1:53210819-53210819
46 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) SNV Pathogenic 8953 rs74315294 GRCh37: 1:53668099-53668099
GRCh38: 1:53202427-53202427
47 CPT2 NM_000098.3(CPT2):c.1737del (p.Ala578_Tyr579insTer) Deletion Pathogenic 130891 rs515726178 GRCh37: 1:53679027-53679027
GRCh38: 1:53213355-53213355
48 CPT2 NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) Deletion Pathogenic 92430 rs397509431 GRCh37: 1:53676584-53676585
GRCh38: 1:53210912-53210913
49 CPT2 NM_000098.3(CPT2):c.983A>G (p.Asp328Gly) SNV Pathogenic 130887 rs515726175 GRCh37: 1:53676329-53676329
GRCh38: 1:53210657-53210657
50 CPT2 NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) Indel Pathogenic 130885 rs515726173 GRCh37: 1:53675880-53675904
GRCh38: 1:53210208-53210232

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

72
# Symbol AA change Variation ID SNP ID
1 CPT2 p.Tyr628Ser VAR_001398 rs28936673
2 CPT2 p.Arg631Cys VAR_001399 rs74315293

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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 26)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.95 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
 13.26 SLC25A20 PPARA ETFDH CPT2 CPT1C CPT1B
3
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 65
Show member pathways
 12.71 SLC27A1 SLC25A20 PPARA HADHA HADH CPT2
4
Fatty Acyl-CoA Biosynthesis 65
Show member pathways
 12.41 HADHA HADH CPT2 CPT1C CPT1B CPT1A
5
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.37 MLYCD CPT1C CPT1B CPT1A
6
AMPK Enzyme Complex Pathway 63
Show member pathways
 12.19 MLYCD CRAT CPT2 CPT1C CPT1B CPT1A
7
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.01 HADHA CPT1A ACADM
8
Insulin resistance 36
Show member pathways
 11.88 SLC27A1 PPARA CPT1B CPT1A
9
Valine, leucine and isoleucine degradation 36
Show member pathways
 11.87 HADHA HADH ACADM
10
Glucagon signaling pathway 36
11.85 PPARA CPT1C CPT1B CPT1A
11
alpha-linolenic acid (ALA) metabolism 65
Show member pathways
 11.78 HADHA HADH ACOX1
12
Amino Acid metabolism 1
11.73 HADH GOT2 ACADM
13
Peroxisome 36
11.68 MLYCD CRAT ACOX1
14
Mitochondrial Fatty Acid Beta-Oxidation 65
Show member pathways
 11.67 HADHA HADH ACADVL ACADM ACADL
15
Adipocytokine signaling pathway 36
11.65 PPARA CPT1C CPT1B CPT1A
16
PPAR signaling pathway 36
11.49 SLC27A1 PPARA CPT2 CPT1C CPT1B CPT1A
17
Peroxisomal lipid metabolism 65
Show member pathways
 11.48 MLYCD CRAT ACOX1
18
fatty acid beta-oxidation (peroxisome) 1
Show member pathways
 11.47 HADH ACOX1 ACADL
19
FOXA2 and FOXA3 transcription factor networks 1
11.44 HADH CPT1C CPT1B CPT1A ACADVL ACADM
20
Propanoate metabolism 36
11.27 MLYCD HADHA ACOX1
21
beta-Alanine metabolism (KEGG) 36
Show member pathways
 11.24 MLYCD HADHA ACOX1
22
PPAR Alpha Pathway 1
11.22 SLC27A1 PPARA CPT2 CPT1A ACADM
23
Mitochondrial LC-Fatty Acid Beta-Oxidation 1
Show member pathways
 11.05 SLC25A20 HADHA HADH CRAT CPT2 CPT1B
24
Import of palmitoyl-CoA into the mitochondrial matrix 65
10.78 SLC25A20 CPT2 CPT1B CPT1A
25
Estrogen Receptor Pathway 1
10.72 PPARA ACOX1
26
Beta oxidation of octanoyl-CoA to hexanoyl-CoA 65
Show member pathways
 10.67 HADHA HADH ACADM
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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 matrix GO:0005759 9.7 MLYCD HADH GOT2 ETFDH ACADVL ACADM
2 mitochondrial membrane GO:0031966 9.56 ETFDH ACADVL ACADM ACADL
3 mitochondrial inner membrane GO:0005743 9.56 SLC27A1 SLC25A20 HADHA GOT2 ETFDH CRAT
4 peroxisome GO:0005777 9.54 MLYCD CRAT ACOX1
5 peroxisomal matrix GO:0005782 9.5 MLYCD CRAT ACOX1
6 mitochondrion GO:0005739 9.47 SLC25A20 MLYCD HADHA HADH GOT2 ETFDH

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.02 HADHA HADH ETFDH ACOX1 ACADVL ACADM
2 fatty acid beta-oxidation GO:0006635 9.85 HADHA HADH CPT2 CPT1C CPT1B CPT1A
3 response to ethanol GO:0045471 9.82 PPARA GOT2 CPT1A
4 regulation of lipid metabolic process GO:0019216 9.8 SLC27A1 PPARA CPT2 CPT1A ACOX1 ACADM
5 positive regulation of cold-induced thermogenesis GO:0120162 9.78 HADH CPT2 ACADL
6 lipid metabolic process GO:0006629 9.77 SLC27A1 MLYCD HADHA HADH CRAT CPT2
7 protein targeting to peroxisome GO:0006625 9.76 MLYCD CRAT ACOX1
8 response to insulin GO:0032868 9.76 SLC27A1 PPARA HADH GOT2
9 carnitine shuttle GO:0006853 9.71 SLC25A20 CPT2 CPT1B CPT1A
10 response to cold GO:0009409 9.69 SLC27A1 ACADVL ACADM
11 long-chain fatty acid metabolic process GO:0001676 9.67 SLC27A1 CPT2 CPT1A
12 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.67 ETFDH ACADVL ACADM ACADL
13 temperature homeostasis GO:0001659 9.65 ACADVL ACADL
14 carnitine metabolic process GO:0009437 9.65 CPT2 CPT1C CPT1B CPT1A ACADM
15 negative regulation of fatty acid biosynthetic process GO:0045717 9.64 ACADVL ACADL
16 fatty acid oxidation GO:0019395 9.64 MLYCD ACOX1
17 long-chain fatty acid transport GO:0015909 9.63 SLC27A1 CPT1B
18 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.63 CRAT ACOX1
19 fatty acid transport GO:0015908 9.62 SLC27A1 GOT2
20 fatty acid catabolic process GO:0009062 9.62 ACOX1 ACADVL
21 regulation of cholesterol metabolic process GO:0090181 9.61 ACADVL ACADL
22 carnitine metabolic process, CoA-linked GO:0019254 9.61 CRAT ACADM ACADL
23 positive regulation of fatty acid beta-oxidation GO:0032000 9.6 PPARA CPT1A
24 regulation of lipid storage GO:0010883 9.59 PPARA CPT1A
25 negative regulation of fatty acid oxidation GO:0046322 9.58 ACADVL ACADL
26 positive regulation of fatty acid oxidation GO:0046321 9.57 PPARA MLYCD
27 medium-chain fatty acid metabolic process GO:0051791 9.56 CRAT ACADM
28 regulation of fatty acid oxidation GO:0046320 9.55 MLYCD CPT1A
29 carnitine transmembrane transport GO:1902603 9.54 SLC25A20 SLC22A5
30 lipid localization GO:0010876 9.52 PPARA CPT1A
31 fatty acid metabolic process GO:0006631 9.47 SLC27A1 PPARA MLYCD HADHA HADH CRAT

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.13 HADHA HADH GOT2 CRAT CPT2 CPT1C
2 identical protein binding GO:0042802 10.1 MLYCD HADH GOT2 CPT1A AMPD1 ACADVL
3 oxidoreductase activity GO:0016491 9.91 HADHA HADH ETFDH ACOX1 ACADVL ACADM
4 transferase activity, transferring acyl groups GO:0016746 9.72 CRAT CPT2 CPT1C CPT1B CPT1A
5 fatty-acyl-CoA binding GO:0000062 9.58 HADHA ACADVL ACADL
6 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.51 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 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.46 ACOX1 ACADVL ACADM ACADL
10 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.43 ACADVL ACADL
11 acyl-CoA dehydrogenase activity GO:0003995 9.43 ACADVL ACADM ACADL
12 flavin adenine dinucleotide binding GO:0050660 9.35 ETFDH ACOX1 ACADVL ACADM ACADL
13 carnitine O-palmitoyltransferase activity GO:0004095 8.92 CPT2 CPT1C CPT1B CPT1A
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Sources for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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