Mitochondria Phenome Knowledgebase

Gene Symbol ACADVL
Ensembl ID ENSG00000072778 Entrez 37
Gene Alias ACAD6; LCACD; VLCAD Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 17p13-p11 Subcell PMIDs 7668252
OMIM Gene 609575 Protein Complex
Swissprot ID P49748 Swissprot Description Acyl-CoA dehydrogenase, very-long-chain specific, mitochondrial precursor
OMIM Disease VLCAD deficiency [201475]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADVL 201475 Musculoskeletal-diseases musculoskeletal #7479827 #9546340 #9877038 #10910451 #11158518 #16443431
ACADVL 201475 Muscular-diseases myopathy; muscle fat droplets; necrotic fibers musculoskeletal 7479827 9546340 9877038 #10910451 11158518 #16443431
ACADVL 201475 Rhabdomyolysis painful; attacks; dark urine musculoskeletal 9546340 10910451 16443431
ACADVL 201475 Myoglobinuria exercise myoglobinuria; dark brown urine musculoskeletal 9546340 9877038 10910451 11158518 16443431
ACADVL 201475 Digestive-system-diseases gastrointestinal #7479827 #7494405 #9546340 #9709714 #9877038 #10910451 #11433098 #11524729
ACADVL 201475 Liver-diseases hepatic symptoms; impaired liver function gastrointestinal #7479827 7494405 #9546340 #9709714 #9877038 #10910451 #11433098 11524729
ACADVL 201475 Fatty-liver hepatic fatty infiltration gastrointestinal 7479827
ACADVL 201475 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 9546340 9877038 10910451 11433098
ACADVL 201475 Hepatomegaly gastrointestinal 9709714 9877038 11433098 11524729
ACADVL 201475 Diarrhea acute; severe gastrointestinal 9877038
ACADVL 201475 Vomiting gastrointestinal 7479827
ACADVL 201475 Respiratory-tract-diseases respiratory #9877038 #11433098
ACADVL 201475 Respiration-disorders respiratory #9877038 #11433098
ACADVL 201475 Respiratory-insufficiency respiratory failure; progressive respiratory failure; respiratory distress; poor respiratory effort respiratory 9877038 11433098
ACADVL 201475 Nervous-system-diseases neurologic #7479827 #9546340 #9709714 #9877038 #10910451 #11158518 #11433098 #11524729 #16443431 #16488171
ACADVL 201475 Central-nervous-system-diseases neurologic #9709714 #16488171
ACADVL 201475 Brain-diseases neurologic #9709714 #16488171
ACADVL 201475 Encephalopathy neurologic 9709714
ACADVL 201475 Seizures neurologic 16488171
ACADVL 201475 Neurologic-manifestations neurologic #7479827 #9546340 #9709714 #9877038 #10910451 #11158518 #11433098 #11524729 #16443431 #16488171
ACADVL 201475 Neurobehavioral-manifestations neurologic #7479827 #9877038 #16488171
ACADVL 201475 Consciousness-disorders coma; sleepy neurologic 7479827 16488171
ACADVL 201475 Developmental-delay neurologic 7479827
ACADVL 201475 Lethargy drowsiness neurologic 7479827 9877038
ACADVL 201475 Neuromuscular-manifestations neurologic #7479827 #9546340 #9709714 #9877038 #10910451 #11158518 #11433098 #11524729 #16443431
ACADVL 201475 Muscle-hypotonia neurologic 7479827 9709714 9877038 11433098
ACADVL 201475 Muscle-weakness neurologic 7479827 11158518 11524729 16443431
ACADVL 201475 Muscle-aching-and-stiffness myalgia; muscle pain; heaviness in the legs neurologic 9546340 10910451 11158518
ACADVL 201475 Reflexes-abnormal neurologic #11433098
ACADVL 201475 Hyporeflexia neurologic 11433098
ACADVL 201475 Genitourinary-diseases genitourinary #10910451
ACADVL 201475 Urologic-diseases genitourinary #10910451
ACADVL 201475 Hematuria haematuria genitourinary 10910451
ACADVL 201475 Kidney-diseases genitourinary #10910451
ACADVL 201475 Renal-insufficiency renal failure; proteinuria genitourinary 10910451
ACADVL 201475 Creatinine-levels-abnormal creatinine elevated genitourinary 10910451
ACADVL 201475 Uremia increased serum urea; blood urea elevated genitourinary 10910451
ACADVL 201475 Cardiovascular-diseases cardiovascular #7479827 #7494405 #9498103 #9709714 #9877038 #11433098 #11524729 #16488171
ACADVL 201475 Heart-diseases cardiovascular #7479827 #7494405 #9498103 #9709714 #9877038 #11433098 #16488171
ACADVL 201475 Arrhythmia arrhythmia; tachycardia; conduction impairment cardiovascular 7479827 9498103 9877038
ACADVL 201475 Cardiomyopathy hypertrophic; dysfunction; cardiomegaly; myocardium thickened; concentric ventricular hypertrophy; biventricular hypertrophy cardiovascular 7479827 7494405 9498103 9709714 9877038 11433098 16488171
ACADVL 201475 Cardiorespiratory-arrest sudden infant death; sudden death cardiovascular 7479827 7494405 9498103 11524729 16488171
ACADVL 201475 Skin-diseases dermatologic #11158518 #16443431
ACADVL 201475 Sweat-gland-diseases dermatologic #16443431
ACADVL 201475 Hyperhidrosis sweating; sweating for 24 hours dermatologic 16443431
ACADVL 201475 Paleness looked pale dermatologic 11158518
ACADVL 201475 Metabolic-diseases metabolic #7479827 #7494405 #9498103 #9546340 #9877038 #10910451 #11158518 #11433098 #11524729 #16488171
ACADVL 201475 Acid-base-imbalance metabolic #7479827 #7494405 #9498103 #9877038 #11433098 #11524729
ACADVL 201475 Acidosis metabolic acidosis metabolic 9877038 11433098
ACADVL 201475 Hypoketosis hypoketotic hypoglycemia metabolic 7479827 7494405 9498103 11433098 11524729
ACADVL 201475 Metabolic-brain-diseases metabolic #7479827
ACADVL 201475 Reye-like-symptoms reye syndrome like metabolic 7479827
ACADVL 201475 Glucose-metabolism-disorders metabolic #7479827 #7494405 #9498103 #11433098 #11524729 #16488171
ACADVL 201475 Hypoglycemia hypoketotic hypoglycemia metabolic 7479827 7494405 9498103 11433098 11524729 16488171
ACADVL 201475 Hyperammonemia ammonia levels elevated metabolic 9498103
ACADVL 201475 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated C12:0 C14:0 C14:1 C16:0 acylcarnitines metabolic 7479827 9546340 9877038 10910451 11158518 11433098
ACADVL 201475 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine; tetra decanoyl carnitine levels abnormal metabolic 9546340 11524729
ACADVL 201475 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; 3 hydroxydicarboxylic aciduria; 3 hydroxyadipic aciduria; 3 hydroxysuberic aciduria; 3 hydroxysebacic aciduria metabolic #7494405 9498103 9877038 11158518
ACADVL 201475 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 7494405 9498103
ACADVL 201475 Immune-system-diseases immunologic #7479827 #9877038 #16488171
ACADVL 201475 Infections viral infections; respiratory tract infections immunologic 7479827 9877038 16488171
ACADVL 201475 Body-temperature-changes miscellaneous #16443431
ACADVL 201475 Fever miscellaneous 16443431
ACADVL 201475 Exercise-intolerance fatigue; extreme tiredness; episodes miscellaneous 9546340 10910451 16443431
ACADVL 201475 Growth-disorders miscellaneous #9709714
ACADVL 201475 Failure-to-thrive miscellaneous 9709714
ACADVL 201475 Mitochondria-abnormal mitochondria with increased variation in size and shape miscellaneous 9546340
ACADVL 201475 Alkaline-phosphatase-abnormal elevated miscellaneous 11433098
ACADVL 201475 Creatine-kinase-abnormal elevated miscellaneous 9546340 9877038 10910451 11158518 16443431

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