Mitochondria Phenome Knowledgebase

Gene Symbol ACADM
Ensembl ID ENSG00000117054 Entrez 34
Gene Alias ACAD1; MCAD; MCADH Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position 1p31 Subcell PMIDs 1731887
OMIM Gene 607008 Protein Complex
Swissprot ID P11310 Swissprot Description Acyl-CoA dehydrogenase, medium-chain specific, mitochondrial precursor
OMIM Disease MCAD deficiency [201450]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADM 201450 Musculoskeletal-diseases musculoskeletal #7876853 #11524729
ACADM 201450 Muscular-diseases type 2 fiber predominance; lipid droplets between myofibrils; glycogen accumulation musculoskeletal 7876853 #11524729
ACADM 201450 Rhabdomyolysis acute muscle necrosis musculoskeletal 7876853 11524729
ACADM 201450 Myoglobinuria dark brown coloured urine musculoskeletal 7876853
ACADM 201450 Digestive-system-diseases gastrointestinal #2246856 #2279505 #2380628 #7876853 #7929823 #9158144 #9350306 #11346377 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Gastrointestinal-diseases gastrointestinal #7929823 #9158144
ACADM 201450 Gastroenteritis viral gastrointestinal 7929823 9158144
ACADM 201450 Liver-diseases hepatic failure; hepatic coma; liver function abnormal gastrointestinal #2246856 2279505 #2380628 #7876853 7929823 #9158144 #9350306 #11346377 11524729 #12897989 #15858970
ACADM 201450 Fatty-liver hepatic fatty infiltration; large droplet steatosis gastrointestinal 2246856 2279505 7929823 9350306
ACADM 201450 Liver-enzymes-abnormal transaminases abnormal; ALT elevated; AST elevated; GGT elevated gastrointestinal 2279505 7876853 7929823 11346377 12897989
ACADM 201450 Hepatomegaly liver enlargement gastrointestinal 2380628 9158144 15858970
ACADM 201450 Feeding-difficulties feeding rejection; fed poorly gastrointestinal 2246856 2279505 7929823 11486912 15858970
ACADM 201450 Diarrhea watery diarrhea; diarrhoea gastrointestinal 2279505 9158144 9350306 11346377
ACADM 201450 Vomiting vomiting and nausea gastrointestinal 7876853 9158144 11346377 11524729 12897989
ACADM 201450 Respiratory-tract-diseases respiratory #7929823 #9158144 #15858970
ACADM 201450 Lung-diseases respiratory #15858970
ACADM 201450 Pulmonary-edema pulmonary oedema respiratory 15858970
ACADM 201450 Pulmonary-hemorrhage respiratory 15858970
ACADM 201450 Respiration-disorders apnea; respiratory status impaired respiratory #7929823 9158144 15858970
ACADM 201450 Hyperventilation tachypnea; tachypnoeic respiratory 7929823 15858970
ACADM 201450 Nervous-system-diseases neurologic #2279505 #7876853 #7929823 #9158144 #9350306 #11263545 #11346377 #11349232 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Central-nervous-system-diseases neurologic #7876853 #9158144 #9350306 #11263545 #11349232 #11524729 #12897989
ACADM 201450 Brain-diseases neurologic #7876853 #9158144 #9350306 #11263545 #11349232 #11524729 #12897989
ACADM 201450 Brain-edema cerebral edema; CT findings; thin lateral ventricles indicative of cerebral oedema; diffuse cerebral oedema neurologic 7876853 9350306 12897989
ACADM 201450 Encephalopathy acute encephalopathy neurologic 7876853 11263545 11524729
ACADM 201450 Seizures seizures; convulsions neurologic 9158144 11349232
ACADM 201450 Headache-disorders headache neurologic 7876853 12897989
ACADM 201450 Electroencephalogram-abnormal generalised slowing background pattern neurologic 7876853
ACADM 201450 Neurologic-manifestations neurologic #2279505 #7876853 #7929823 #9158144 #11263545 #11346377 #11349232 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Neurobehavioral-manifestations neurologic #2279505 #7876853 #7929823 #11263545 #11346377 #11349232 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Speech-disorders incoherent speech neurologic 12897989
ACADM 201450 Consciousness-disorders coma; delirious; consciousness altered; comatose neurologic 2279505 7876853 7929823 11349232 11524729 12897989
ACADM 201450 Developmental-delay cerebral palsy neurologic 7929823 11263545
ACADM 201450 Psychomotor-agitation ADHD; attention deficit; hyperactivity; agitated patient; motor restlessness neurologic 7876853 11263545
ACADM 201450 Irritability irritable neurologic 2279505 7876853
ACADM 201450 Lethargy drowsiness; lethargic; sudden onset of lethargy neurologic 7876853 11346377 11349232 11486912 12897989 15858970
ACADM 201450 Neuromuscular-manifestations neurologic #2279505 #7876853 #9158144 #11263545 #11524729 #15858970
ACADM 201450 Muscle-hypotonia hypotonic; muscle tone decreased neurologic 2279505 9158144 15858970
ACADM 201450 Muscle-weakness progressive weakness neurologic 7876853 11263545 11524729
ACADM 201450 Genitourinary-diseases genitourinary #7876853 #11346377 #12897989
ACADM 201450 Urologic-diseases genitourinary #7876853 #11346377 #12897989
ACADM 201450 Kidney-diseases genitourinary #7876853 #11346377 #12897989
ACADM 201450 Renal-insufficiency moderate renal insufficiency; acute renal failure genitourinary 7876853 12897989
ACADM 201450 Creatinine-levels-abnormal plasma creatinine elevated genitourinary 7876853
ACADM 201450 Uremia increase of plasma urea; elevated urea levels genitourinary 7876853 11346377
ACADM 201450 Cardiovascular-diseases cardiovascular #2246856 #2380628 #7876853 #7929823 #9158144 #9350306 #11263545 #11346377 #11349232 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Heart-diseases cardiovascular #2380628 #7876853 #7929823 #11346377 #12897989 #15858970
ACADM 201450 Arrhythmia atrial bigeminy; heart block; arrhythmic; ventricular tachycardia; atrial fibrillations; bradycardia; ventricular fibrillation cardiovascular 11346377 12897989 15858970
ACADM 201450 Cardiomyopathy left ventricle hypertrophy; repolarisation disturbances; cardiomegaly; biventricular dilatation cardiovascular 2380628 7876853 7929823 15858970
ACADM 201450 Cardiorespiratory-arrest sudden infant death; SIDS; cardiac dysfunction; respiratory arrest; cardiac arrest; asystolic cardiac arrest cardiovascular 2246856 2380628 7929823 9158144 9350306 11263545 11349232 11486912 11524729 12897989 15858970
ACADM 201450 Blood-circulation-disorder cool extremities; blue extremities; perfusion abnormal; poor perfusion; slow capillary refill; probably dehydration related cardiovascular 11346377
ACADM 201450 Hematologic-diseases hematologic #7929823 #11346377 #15858970
ACADM 201450 Blood-coagulation-disorders prothrombin time prolonged; intravascular coagulation hematologic 7929823 15858970
ACADM 201450 Blood-protein-disorders hematologic #11346377
ACADM 201450 Hyperalbuminemia albumin levels increased hematologic 11346377
ACADM 201450 Hemoglobin-levels-abnormal hemoglobin deficiency hematologic 11346377 15858970
ACADM 201450 Skin-diseases dermatologic #7929823 #15858970
ACADM 201450 Paleness dusky pallor; pale dermatologic 7929823 15858970
ACADM 201450 Metabolic-diseases metabolic #2246856 #2279505 #2380628 #7876853 #7929823 #9158144 #9350306 #11346377 #11349232 #11409868 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Acid-base-imbalance metabolic #2279505 #7876853 #11349232 #11486912 #12897989 #15858970
ACADM 201450 Acidosis mild; lactate acidosis; metabolic acidosis metabolic 2279505 7876853 12897989 15858970
ACADM 201450 Hypoketosis hypoketotic hypoglycemia metabolic 11349232 11486912
ACADM 201450 Metabolic-brain-diseases CSF protein elevated metabolic #2246856 #2279505 7876853 #7929823 #9158144 #9350306
ACADM 201450 Reye-like-symptoms reye syndrome like metabolic 2246856 2279505 7929823 9158144 9350306
ACADM 201450 Glucose-metabolism-disorders metabolic #2246856 #2279505 #2380628 #7929823 #11346377 #11349232 #11486912 #12897989
ACADM 201450 Hypoglycemia hypoglycemic shock; hypoglycaemia metabolic 2246856 2279505 2380628 7929823 11346377 11349232 11486912 12897989
ACADM 201450 Hyperammonemia ammonia levels elevated metabolic 11346377 12897989
ACADM 201450 Aminoacid-levels-abnormal elevated alanine metabolic 11346377
ACADM 201450 Phosphorus-metabolism-disorders metabolic #7876853
ACADM 201450 Hyperphosphatemia phosphate concentrations increased metabolic 7876853
ACADM 201450 Water-electrolyte-imbalance metabolic #7876853 #11346377 #11524729 #12897989
ACADM 201450 Dehydration metabolic 11346377 11524729
ACADM 201450 Hyperkalemia potassium concentration elevated metabolic 7876853 12897989
ACADM 201450 Hypocalcemia calcium levels abnormal metabolic 11346377
ACADM 201450 Acylcarnitine-profile-abnormal elevated medium chain acylcarnitines; elevated C6:0 C8:0 C8:1 C10:1 acylcarnitines; octanoylcarnitine elevated metabolic 2246856 2279505 7876853 11349232 11409868 11486912 12897989 15858970
ACADM 201450 Acylglycine-profile-abnormal superylglycinuria; hexanoylglycinuria; phenylpropionylglycinuria; urinary excretion of glycine esters metabolic 2246856 2380628 7876853 11349232 11409868 11486912 12897989 15858970
ACADM 201450 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine; urinary excretion of carnitine metabolic 2279505 2380628 7876853 11486912 15858970
ACADM 201450 Fatty-acids-abnormal octanoic acid elevated; plasma metabolic 11486912
ACADM 201450 Organic-acids-abnormal dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; decanoic aciduria; elevated octanoylcarnitine; suberylglycinuria metabolic 2246856 #2279505 2380628 7876853 7929823 #11349232 #11409868 #12897989 #15858970
ACADM 201450 Dicarboxylic-aciduria dicarboxylic acids elevated; medium chain dicarboxylic aciduria metabolic 2246856 2279505 2380628 7929823 11349232 11409868 12897989 15858970
ACADM 201450 Immune-system-diseases immunologic #2246856 #2279505 #2380628 #11346377 #11486912 #11524729
ACADM 201450 Infections intercurrent; viral infections; respiratory tract infections; rotavirus; respiratory syncytial virus; recurrent infections immunologic 2246856 2279505 2380628 11346377 11486912 11524729
ACADM 201450 Body-temperature-changes miscellaneous #2279505 #9158144 #9350306 #11524729 #15858970
ACADM 201450 Fever miscellaneous 2279505 9158144 9350306 11524729
ACADM 201450 Hypothermia hypothermic miscellaneous 15858970
ACADM 201450 Growth-disorders miscellaneous #11263545
ACADM 201450 Failure-to-thrive miscellaneous 11263545
ACADM 201450 Mitochondria-abnormal elongated; abnormally configurated; increased numbers; matrix density increased; cristae widening miscellaneous 2279505
ACADM 201450 Creatine-kinase-abnormal elevated miscellaneous 7876853 11346377 12897989

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