Mitochondria Phenome Knowledgebase

Gene Symbol CPT2
Ensembl ID ENSG00000157184 Entrez 1376
Gene Alias CPT1; CPTASE Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 1p32 Subcell PMIDs 10577999
OMIM Gene 600650 Protein Complex
Swissprot ID P23786 Swissprot Description "Carnitine O-palmitoyltransferase II, mitochondrial precursor"
OMIM Disease Carnitine O palmitoyltransferase II deficiency (late onset form) [255110]; Carnitine O palmitoyltransferase II deficiency (infantile form) [600649]

98 Gene-Feature associations for Gene CPT2

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
CPT2 255110 Abdominal-pain epigastric pain gastrointestinal 8201482
CPT2 255110 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated C16:0 C18:1 C18:2 acylcarnitines; palmitoylcarnitine elevated metabolic 8201482 11999976 15642848
CPT2 255110 Arrhythmia arrhythmia; conduction impairment; atrial tachycardias cardiovascular 2748260 10577999
CPT2 255110 Brain-diseases neurologic #12752755
CPT2 255110 Cardiovascular-diseases cardiovascular #2748260 #10577999
CPT2 255110 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 12752755
CPT2 255110 Carnitine-responsive supplementation with carnitine may improve the outcome of the migraine as well as the carnitine associated symptoms miscellaneous 12752755
CPT2 255110 Central-nervous-system-diseases neurologic #12752755
CPT2 255110 Creatine-kinase-abnormal elevated; serum miscellaneous 8201482 8786066 8815169 9600456 10398215 10862092 11999976 15776096
CPT2 255110 Creatinine-levels-abnormal elevated genitourinary 8815169
CPT2 255110 Developmental-delay gross motor delay neurologic 8201482
CPT2 255110 Digestive-system-diseases gastrointestinal #8201482 #8815169
CPT2 255110 Electromyography-abnormal myogenic abnormalities; myopathic changes neurologic 9600456 11999976
CPT2 255110 Exercise-intolerance exercise related myalgia; fatigue; chronic fatigue miscellaneous 8201482 8786066 8815169 10090476 10862092 11999976 12752755 15642848
CPT2 255110 Eye-diseases ophthalmologic #12752755
CPT2 255110 Genitourinary-diseases genitourinary #2748260 #8358442 #8815169 #10398215 #10862092 #11999976 #15642848 #15776096
CPT2 255110 Headache-disorders migraine headache; migraine; frequent headaches; jabs and jolts headache; ice pick headache neurologic 12752755
CPT2 255110 Heart-diseases cardiovascular #2748260 #10577999
CPT2 255110 Hematologic-diseases hematologic #8201482 #8815169
CPT2 255110 Hyperkalemia potassium levels elevated metabolic 2748260
CPT2 255110 Hyperphosphatemia metabolic 2748260
CPT2 255110 Hypertension cardiovascular 2748260
CPT2 255110 Hypocalcemia calcium levels abnormal metabolic 2748260
CPT2 255110 Immune-system-diseases immunologic #8201482 #8815169 #11999976 #15642848 #15776096
CPT2 255110 Infections infection triggered episodes; flu like illnesses immunologic 8201482 8815169 11999976 15642848 15776096
CPT2 255110 Kidney-diseases genitourinary #2748260 #8358442 #8815169 #10398215 #10862092 #11999976 #15642848 #15776096
CPT2 255110 Leukocyte-disorders hematologic #8201482 #8815169
CPT2 255110 Leukocytosis elevated leukocyte count; neutrophils elevated; neutrophil leukocytosis; WBC abnormal hematologic 8201482 8815169
CPT2 255110 Liver-diseases gastrointestinal #8201482 #8815169
CPT2 255110 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 8201482 8815169
CPT2 255110 Metabolic-diseases metabolic #2748260 #8201482 #11999976 #12752755 #15642848
CPT2 255110 Muscle-aching-and-stiffness recurrent; episodes; myalgia; cramps; muscle pain; muscle cramps neurologic 8201482 8358442 8786066 8815169 9600456 10090476 10398215 10862092 11999976 12752755 15642848 15776096
CPT2 255110 Muscle-weakness after exercise; floppy legs neurologic 8358442 10090476 11999976 12410208 12752755 15642848
CPT2 255110 Muscular-diseases myopathy; lipid storage; progressive; necrotic fibers during attacks; atrophic fibers; increased variability in fiber size musculoskeletal #2748260 #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 10398215 #10862092 11999976 12410208 #12752755 15642848 #15776096
CPT2 255110 Musculoskeletal-diseases musculoskeletal #2748260 #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096
CPT2 255110 Myoglobinuria paroxysmal; after exercise; cold triggered; fever triggered; fasting triggered; recurrent episodes; pigmenturia musculoskeletal 2748260 8201482 8358442 8786066 8815169 9600456 10090476 10398215 10862092 11999976 12752755 15642848 15776096
CPT2 255110 Nervous-system-diseases neurologic #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096
CPT2 255110 Neurologic-manifestations neurologic #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096
CPT2 255110 Neuromuscular-manifestations neurologic #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096
CPT2 255110 Pancreatic-diseases gastrointestinal #8201482
CPT2 255110 Pancreatitis pancreas enlargement; serum amylase elevated; recurrent pancreatitis gastrointestinal 8201482
CPT2 255110 Phosphorus-metabolism-disorders metabolic #2748260
CPT2 255110 Photophobia photophobia and phonophobia ophthalmologic 12752755
CPT2 255110 Renal-insufficiency renal failure; renal tubular dysfunction; acute renal failure genitourinary 2748260 8358442 8815169 10398215 10862092 11999976 15642848 15776096
CPT2 255110 Rhabdomyolysis dark urine; recurrent episodes musculoskeletal 2748260 8358442 8786066 8815169 11999976 15642848 15776096
CPT2 255110 Uremia blood urea nitrogen elevated; related to anuria genitourinary 8815169
CPT2 255110 Urologic-diseases genitourinary #2748260 #8358442 #8815169 #10398215 #10862092 #11999976 #15642848 #15776096
CPT2 255110 Vascular-diseases cardiovascular #2748260
CPT2 255110 Vision-disorders ophthalmologic #12752755
CPT2 255110 Vomiting nausea; vomiting gastrointestinal 8201482 8815169
CPT2 255110 Water-electrolyte-imbalance metabolic #2748260
CPT2 600649 Acid-base-imbalance metabolic #1999498 #8682496 #9600456 #11389301 #11477613
CPT2 600649 Acidosis lactic acidosis; metabolic acidosis; blood acidosis metabolic 1999498 8682496 9600456 11389301 11477613
CPT2 600649 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated C16:0 C18:1 C18:2 acylcarnitines metabolic 9600456 11389301 12410208
CPT2 600649 Arrhythmia arrhythmia; bradycardia; tachycardia; heart block; arrhythmic episodes cardiovascular 1999498 11389301 12410208 12560872
CPT2 600649 Blood-coagulation-disorders fibrinogen decreased hematologic 1999498
CPT2 600649 Body-temperature-changes miscellaneous #1999498 #8682496 #9600456 #12410208
CPT2 600649 Brain-diseases neurologic #1999498 #11389301 #11477613 #12410208 #12560872
CPT2 600649 Cardiomyopathy cardiomegaly; dilated; atrial enlargement; ventricular enlargement; myocardium thickened cardiovascular 1528846 1999498 11477613 12560872
CPT2 600649 Cardiorespiratory-arrest sudden infant death; cardiorespiratory insufficieny; cardiorespiratory failure cardiovascular 1528846 11389301 12410208 12560872
CPT2 600649 Cardiovascular-diseases cardiovascular #1528846 #1999498 #11389301 #11477613 #12410208 #12560872
CPT2 600649 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 1999498 9600456 12410208
CPT2 600649 Cataract bilateral cataracts ophthalmologic 11389301
CPT2 600649 Central-nervous-system-diseases neurologic #1999498 #11389301 #11477613 #12410208 #12560872
CPT2 600649 Cerebral-atrophy ventriculomegaly; cerebral atrophy neurologic 11477613
CPT2 600649 Cerebral-calcifications intracerebral; periventricular; subependymal; scattered calcifications neurologic 11389301 11477613
CPT2 600649 Cerebrovascular-disorders neurologic #11477613
CPT2 600649 Consciousness-disorders coma neurologic 1528846
CPT2 600649 Corpus-callosum-hypoplasia MRI findings; absence corpus callosum; dysplasia; dysplastic corpus callosum neurologic 11389301 11477613
CPT2 600649 Cortical-dysplasia polymicrogyria; glial heterotopia; cerebral malformations neurologic 11477613
CPT2 600649 Creatine-kinase-abnormal MM elevated; MB elevated miscellaneous 1999498 11477613
CPT2 600649 Creatinine-levels-abnormal creatinine elevated genitourinary 11389301 11477613
CPT2 600649 Cystic-kidney-diseases kidney cysts; bilateral cysts; dysplastic kidneys; polycystic kidneys; kidneys enlarged; kidneys irregular genitourinary 11389301 11477613 12410208
CPT2 600649 Diarrhea gastrointestinal 9600456 12410208
CPT2 600649 Dicarboxylic-aciduria dicarboxylic acids elevated; saturated and unsaturated dicarboxylic acids elevated metabolic 8682496 9600456 11389301
CPT2 600649 Digestive-system-diseases gastrointestinal #1528846 #1999498 #8682496 #9600456 #11389301 #11477613 #12410208 #12560872
CPT2 600649 Dysmorphism-and-abnormalities mild dysmorphic features; high arched palate; narrow palate; facial anomalies; cerebral malformations; low set ears; posteriorly rotated ears; bulbous nose; prominent forehead; hypoplastic toenails miscellaneous 11389301 11477613 12410208
CPT2 600649 Electroencephalogram-abnormal burst suppression patterns neurologic 11389301
CPT2 600649 Eye-diseases ophthalmologic #11389301
CPT2 600649 Fatty-acids-abnormal palmitic acids abnormal metabolic 1528846 1999498 11477613
CPT2 600649 Fatty-liver steatosis; microvesicular; macrovesicular; fat droplets; swollen hepatocytes; fatty changes gastrointestinal 8682496 9600456 11389301 11477613
CPT2 600649 Feeding-difficulties gastrointestinal 11477613
CPT2 600649 Fever episode; malignant hyperthermia; anesthesia related miscellaneous 1999498 8682496 9600456 12410208
CPT2 600649 Genitourinary-diseases genitourinary #8682496 #11389301 #11477613 #12410208
CPT2 600649 Glucose-metabolism-disorders metabolic #1528846 #1999498 #8682496 #11389301 #12410208
CPT2 600649 Growth-deficiency growth retardation; intrauterine miscellaneous 12560872
CPT2 600649 Growth-disorders miscellaneous #12560872
CPT2 600649 Heart-diseases cardiovascular #1528846 #1999498 #11389301 #11477613 #12410208 #12560872
CPT2 600649 Hematologic-diseases hematologic #1999498
CPT2 600649 Hepatomegaly moderate gastrointestinal 1999498 8682496 9600456 11477613 12560872
CPT2 600649 Hydronephrosis left hydronephrosis genitourinary 11389301 12410208
CPT2 600649 Hyperammonemia ammonia levels elevated metabolic 1999498 8682496 11389301
CPT2 600649 Hyperbilirubinemia metabolic 11477613
CPT2 600649 Hyperhidrosis sweating episodes dermatologic 1528846
CPT2 600649 Hyperkalemia potassium levels elevated metabolic 1999498 11389301 12410208
CPT2 600649 Hyperventilation tachypnea respiratory 11389301 12410208
CPT2 600649 Hypoglycemia hypoketotic; nonketotic metabolic 1528846 1999498 8682496 11389301 12410208
CPT2 600649 Hypoketosis metabolic 8682496
CPT2 600649 Intracranial-hemorrhages periventricular hemorrhages; subependymal hemorrhages; subarachnoid hemorrhages neurologic 11477613
CPT2 600649 Kidney-diseases genitourinary #8682496 #11389301 #11477613 #12410208
CPT2 600649 Lens-diseases ophthalmologic #11389301
CPT2 600649 Lethargy episodes; hypoactivity neurologic 1528846 1999498 8682496 11477613 12410208 12560872
CPT2 600649 Liver-diseases liver calcifications; liver dysfunction gastrointestinal #1999498 #8682496 9600456 11389301 #11477613 12410208 #12560872
CPT2 600649 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 1999498 8682496 9600456 11389301 11477613 12410208
CPT2 600649 Metabolic-brain-diseases CSF protein levels decreased metabolic 12410208
CPT2 600649 Metabolic-diseases metabolic #1528846 #1999498 #8682496 #9600456 #11389301 #11477613 #12410208
CPT2 600649 Muscle-hypotonia muscular hypotonia; generalized neurologic 11389301 11477613 12560872
CPT2 600649 Muscular-diseases myofibrillar disarray; skeletal muscle; myopathic process musculoskeletal 11389301
CPT2 600649 Musculoskeletal-diseases musculoskeletal #11389301
CPT2 600649 Nervous-system-diseases neurologic #1528846 #1999498 #8682496 #11389301 #11477613 #12410208 #12560872
CPT2 600649 Neurobehavioral-manifestations neurologic #1528846 #1999498 #8682496 #11477613 #12410208 #12560872
CPT2 600649 Neurologic-manifestations neurologic #1528846 #1999498 #8682496 #11389301 #11477613 #12410208 #12560872
CPT2 600649 Neuromuscular-manifestations neurologic #11389301 #11477613 #12560872
CPT2 600649 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; anterior horn abnormal; calcifications neurologic 11477613
CPT2 600649 Organic-acids-abnormal dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; lactic aciduria; pyruvic aciduria metabolic 8682496 #9600456 11389301
CPT2 600649 Renal-insufficiency renal tubular dysfunction; renal failure genitourinary 11389301 11477613 12410208
CPT2 600649 Respiration-disorders respiratory #1528846 #1999498 #11389301 #12410208 #12560872
CPT2 600649 Respiratory-insufficiency respiratory distress; respiratory arrest respiratory 1528846 1999498 12410208 12560872
CPT2 600649 Respiratory-tract-diseases respiratory #1528846 #1999498 #11389301 #12410208 #12560872
CPT2 600649 Seizures seizures refractory to antiepileptic drugs neurologic 1999498 11389301 12410208 12560872
CPT2 600649 Skin-diseases dermatologic #1528846
CPT2 600649 Sweat-gland-diseases dermatologic #1528846
CPT2 600649 Uremia serum urea nitrogen increased; BUN increased genitourinary 8682496
CPT2 600649 Urologic-diseases genitourinary #8682496 #11389301 #11477613 #12410208
CPT2 600649 Vomiting episodes; regurgitations gastrointestinal 1528846 11477613 12410208
CPT2 600649 Water-electrolyte-imbalance metabolic #1999498 #11389301 #12410208

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