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]

89 Gene-Feature associations for Gene ACADM

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
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 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 Aminoacid-levels-abnormal elevated alanine metabolic 11346377
ACADM 201450 Arrhythmia atrial bigeminy; heart block; arrhythmic; ventricular tachycardia; atrial fibrillations; bradycardia; ventricular fibrillation cardiovascular 11346377 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 Blood-coagulation-disorders prothrombin time prolonged; intravascular coagulation hematologic 7929823 15858970
ACADM 201450 Blood-protein-disorders hematologic #11346377
ACADM 201450 Body-temperature-changes miscellaneous #2279505 #9158144 #9350306 #11524729 #15858970
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 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 Cardiovascular-diseases cardiovascular #2246856 #2380628 #7876853 #7929823 #9158144 #9350306 #11263545 #11346377 #11349232 #11486912 #11524729 #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 Central-nervous-system-diseases neurologic #7876853 #9158144 #9350306 #11263545 #11349232 #11524729 #12897989
ACADM 201450 Consciousness-disorders coma; delirious; consciousness altered; comatose neurologic 2279505 7876853 7929823 11349232 11524729 12897989
ACADM 201450 Creatine-kinase-abnormal elevated miscellaneous 7876853 11346377 12897989
ACADM 201450 Creatinine-levels-abnormal plasma creatinine elevated genitourinary 7876853
ACADM 201450 Dehydration metabolic 11346377 11524729
ACADM 201450 Developmental-delay cerebral palsy neurologic 7929823 11263545
ACADM 201450 Diarrhea watery diarrhea; diarrhoea gastrointestinal 2279505 9158144 9350306 11346377
ACADM 201450 Dicarboxylic-aciduria dicarboxylic acids elevated; medium chain dicarboxylic aciduria metabolic 2246856 2279505 2380628 7929823 11349232 11409868 12897989 15858970
ACADM 201450 Digestive-system-diseases gastrointestinal #2246856 #2279505 #2380628 #7876853 #7929823 #9158144 #9350306 #11346377 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Electroencephalogram-abnormal generalised slowing background pattern neurologic 7876853
ACADM 201450 Encephalopathy acute encephalopathy neurologic 7876853 11263545 11524729
ACADM 201450 Failure-to-thrive miscellaneous 11263545
ACADM 201450 Fatty-acids-abnormal octanoic acid elevated; plasma metabolic 11486912
ACADM 201450 Fatty-liver hepatic fatty infiltration; large droplet steatosis gastrointestinal 2246856 2279505 7929823 9350306
ACADM 201450 Feeding-difficulties feeding rejection; fed poorly gastrointestinal 2246856 2279505 7929823 11486912 15858970
ACADM 201450 Fever miscellaneous 2279505 9158144 9350306 11524729
ACADM 201450 Gastroenteritis viral gastrointestinal 7929823 9158144
ACADM 201450 Gastrointestinal-diseases gastrointestinal #7929823 #9158144
ACADM 201450 Genitourinary-diseases genitourinary #7876853 #11346377 #12897989
ACADM 201450 Glucose-metabolism-disorders metabolic #2246856 #2279505 #2380628 #7929823 #11346377 #11349232 #11486912 #12897989
ACADM 201450 Growth-disorders miscellaneous #11263545
ACADM 201450 Headache-disorders headache neurologic 7876853 12897989
ACADM 201450 Heart-diseases cardiovascular #2380628 #7876853 #7929823 #11346377 #12897989 #15858970
ACADM 201450 Hematologic-diseases hematologic #7929823 #11346377 #15858970
ACADM 201450 Hemoglobin-levels-abnormal hemoglobin deficiency hematologic 11346377 15858970
ACADM 201450 Hepatomegaly liver enlargement gastrointestinal 2380628 9158144 15858970
ACADM 201450 Hyperalbuminemia albumin levels increased hematologic 11346377
ACADM 201450 Hyperammonemia ammonia levels elevated metabolic 11346377 12897989
ACADM 201450 Hyperkalemia potassium concentration elevated metabolic 7876853 12897989
ACADM 201450 Hyperphosphatemia phosphate concentrations increased metabolic 7876853
ACADM 201450 Hyperventilation tachypnea; tachypnoeic respiratory 7929823 15858970
ACADM 201450 Hypocalcemia calcium levels abnormal metabolic 11346377
ACADM 201450 Hypoglycemia hypoglycemic shock; hypoglycaemia metabolic 2246856 2279505 2380628 7929823 11346377 11349232 11486912 12897989
ACADM 201450 Hypoketosis hypoketotic hypoglycemia metabolic 11349232 11486912
ACADM 201450 Hypothermia hypothermic miscellaneous 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 Irritability irritable neurologic 2279505 7876853
ACADM 201450 Kidney-diseases genitourinary #7876853 #11346377 #12897989
ACADM 201450 Lethargy drowsiness; lethargic; sudden onset of lethargy neurologic 7876853 11346377 11349232 11486912 12897989 15858970
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 Liver-enzymes-abnormal transaminases abnormal; ALT elevated; AST elevated; GGT elevated gastrointestinal 2279505 7876853 7929823 11346377 12897989
ACADM 201450 Lung-diseases respiratory #15858970
ACADM 201450 Metabolic-brain-diseases CSF protein elevated metabolic #2246856 #2279505 7876853 #7929823 #9158144 #9350306
ACADM 201450 Metabolic-diseases metabolic #2246856 #2279505 #2380628 #7876853 #7929823 #9158144 #9350306 #11346377 #11349232 #11409868 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Mitochondria-abnormal elongated; abnormally configurated; increased numbers; matrix density increased; cristae widening miscellaneous 2279505
ACADM 201450 Muscle-hypotonia hypotonic; muscle tone decreased neurologic 2279505 9158144 15858970
ACADM 201450 Muscle-weakness progressive weakness neurologic 7876853 11263545 11524729
ACADM 201450 Muscular-diseases type 2 fiber predominance; lipid droplets between myofibrils; glycogen accumulation musculoskeletal 7876853 #11524729
ACADM 201450 Musculoskeletal-diseases musculoskeletal #7876853 #11524729
ACADM 201450 Myoglobinuria dark brown coloured urine musculoskeletal 7876853
ACADM 201450 Nervous-system-diseases neurologic #2279505 #7876853 #7929823 #9158144 #9350306 #11263545 #11346377 #11349232 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Neurobehavioral-manifestations neurologic #2279505 #7876853 #7929823 #11263545 #11346377 #11349232 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Neurologic-manifestations neurologic #2279505 #7876853 #7929823 #9158144 #11263545 #11346377 #11349232 #11486912 #11524729 #12897989 #15858970
ACADM 201450 Neuromuscular-manifestations neurologic #2279505 #7876853 #9158144 #11263545 #11524729 #15858970
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 Paleness dusky pallor; pale dermatologic 7929823 15858970
ACADM 201450 Phosphorus-metabolism-disorders metabolic #7876853
ACADM 201450 Psychomotor-agitation ADHD; attention deficit; hyperactivity; agitated patient; motor restlessness neurologic 7876853 11263545
ACADM 201450 Pulmonary-edema pulmonary oedema respiratory 15858970
ACADM 201450 Pulmonary-hemorrhage respiratory 15858970
ACADM 201450 Renal-insufficiency moderate renal insufficiency; acute renal failure genitourinary 7876853 12897989
ACADM 201450 Respiration-disorders apnea; respiratory status impaired respiratory #7929823 9158144 15858970
ACADM 201450 Respiratory-tract-diseases respiratory #7929823 #9158144 #15858970
ACADM 201450 Reye-like-symptoms reye syndrome like metabolic 2246856 2279505 7929823 9158144 9350306
ACADM 201450 Rhabdomyolysis acute muscle necrosis musculoskeletal 7876853 11524729
ACADM 201450 Seizures seizures; convulsions neurologic 9158144 11349232
ACADM 201450 Skin-diseases dermatologic #7929823 #15858970
ACADM 201450 Speech-disorders incoherent speech neurologic 12897989
ACADM 201450 Uremia increase of plasma urea; elevated urea levels genitourinary 7876853 11346377
ACADM 201450 Urologic-diseases genitourinary #7876853 #11346377 #12897989
ACADM 201450 Vomiting vomiting and nausea gastrointestinal 7876853 9158144 11346377 11524729 12897989
ACADM 201450 Water-electrolyte-imbalance metabolic #7876853 #11346377 #11524729 #12897989

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