Mitochondria Phenome Knowledgebase

Gene Symbol ACADL
Ensembl ID ENSG00000115361 Entrez 33
Gene Alias ACAD4; LCAD Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position 2q34-q35 Subcell PMIDs 7551821
OMIM Gene 609576 Protein Complex
Swissprot ID P28330 Swissprot Description Acyl-CoA dehydrogenase, long-chain specific, mitochondrial precursor
OMIM Disease LCAD deficiency [201460]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Musculoskeletal-diseases musculoskeletal #2000272
ACADL 201460 Muscular-diseases musculoskeletal #2000272
ACADL 201460 Myoglobinuria musculoskeletal 2000272
ACADL 201460 Craniofacial-abnormalities musculoskeletal #2000272
ACADL 201460 Microcephaly musculoskeletal 2000272
ACADL 201460 Digestive-system-diseases gastrointestinal #1945557 #2000272 #4022672 #8739959
ACADL 201460 Liver-diseases gastrointestinal #1945557 #2000272 #4022672
ACADL 201460 Fatty-liver liver fatty change; steatosis gastrointestinal 2000272
ACADL 201460 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 2000272
ACADL 201460 Hepatomegaly gastrointestinal 1945557 2000272 4022672
ACADL 201460 Feeding-difficulties coeliac disease like gastrointestinal 2000272 8739959
ACADL 201460 Diarrhea gastrointestinal 2000272
ACADL 201460 Vomiting gastrointestinal 2000272 8739959
ACADL 201460 Respiratory-tract-diseases respiratory #2000272
ACADL 201460 Respiration-disorders apneic respiratory 2000272
ACADL 201460 Nervous-system-diseases neurologic #1945557 #2000272 #4022672 #8739959
ACADL 201460 Neurologic-manifestations neurologic #1945557 #2000272 #4022672 #8739959
ACADL 201460 Neurobehavioral-manifestations neurologic #2000272
ACADL 201460 Consciousness-disorders coma neurologic 2000272
ACADL 201460 Developmental-delay motor retardation neurologic 8739959
ACADL 201460 Lethargy neurologic 2000272
ACADL 201460 Neuromuscular-manifestations neurologic #1945557 #2000272 #4022672 #8739959
ACADL 201460 Muscle-hypotonia neurologic 4022672 8739959
ACADL 201460 Muscle-weakness persistent neurologic 1945557 2000272
ACADL 201460 Muscle-aching-and-stiffness myalgia neurologic 2000272
ACADL 201460 Genitourinary-diseases genitourinary #2000272
ACADL 201460 Urologic-diseases genitourinary #2000272
ACADL 201460 Kidney-diseases genitourinary #2000272
ACADL 201460 Creatinine-levels-abnormal creatinine elevated genitourinary 2000272
ACADL 201460 Cardiovascular-diseases cardiovascular #1945557 #2000272 #4022672
ACADL 201460 Heart-diseases cardiovascular #1945557 #2000272 #4022672
ACADL 201460 Cardiomyopathy cardiomegaly; myocardium thickened cardiovascular 1945557 2000272 4022672
ACADL 201460 Cardiorespiratory-arrest episodes; respiratory arrest cardiovascular 2000272 4022672
ACADL 201460 Hematologic-diseases hematologic #2000272
ACADL 201460 Blood-coagulation-disorders prothrombin time prolonged hematologic 2000272
ACADL 201460 Metabolic-diseases metabolic #1945557 #2000272 #4022672 #8739959
ACADL 201460 Acid-base-imbalance metabolic #2000272
ACADL 201460 Acidosis lactic acidosis metabolic 2000272
ACADL 201460 Glucose-metabolism-disorders metabolic #1945557 #2000272 #4022672
ACADL 201460 Hypoglycemia severe hypoglycemia metabolic 1945557 2000272 4022672
ACADL 201460 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated C12:0 C14:0 C14:1 C16:0 acylcarnitines metabolic 2000272
ACADL 201460 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 4022672
ACADL 201460 Fatty-acids-abnormal metabolic 4022672
ACADL 201460 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 2000272 8739959
ACADL 201460 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 2000272 8739959
ACADL 201460 Endocrine-system-diseases endocrinologic #2000272
ACADL 201460 Adrenal-gland-diseases endocrinologic #2000272
ACADL 201460 Adrenocortical-hyperfunction endocrinologic #2000272
ACADL 201460 Hypercortisolism cortisol levels elevated endocrinologic 2000272
ACADL 201460 Body-temperature-changes miscellaneous #2000272
ACADL 201460 Fever miscellaneous 2000272
ACADL 201460 Growth-disorders miscellaneous #2000272 #8739959
ACADL 201460 Failure-to-thrive miscellaneous 2000272 8739959
ACADL 201460 Creatine-kinase-abnormal miscellaneous 2000272

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