Mitochondria Phenome Knowledgebase

Gene Symbol ACADS
Ensembl ID ENSG00000122971 Entrez 35
Gene Alias ACAD3; SCAD Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position 12q22-qter Subcell PMIDs 9582344
OMIM Gene 606885 Protein Complex
Swissprot ID P16219 Swissprot Description "Acyl-CoA dehydrogenase, short-chain specific, mitochondrial precursor"
OMIM Disease SCAD deficiency [201470]

102 Gene-Feature associations for Gene ACADS

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADS 201470 Acid-base-imbalance metabolic #2808706 #3571488 #7776094 #12061367
ACADS 201470 Acidosis metabolic acidosis; neonatal metabolic 2808706 3571488 7776094 12061367
ACADS 201470 Acylcarnitine-profile-abnormal elevated C4 acylcarnitine; elevated butyrylcarnitine; C4 elevation during episodes metabolic 7776094 12872838 14595061 15534767
ACADS 201470 Acylglycine-profile-abnormal butyrylglycinuria; isovalerylglycine metabolic 7776094 9932958
ACADS 201470 Alkaline-phosphatase-abnormal elevated miscellaneous 14595061
ACADS 201470 Aminoaciduria aspartate elevated; threonine elevated; glutamine elevated; proline elevated; glycine elevated; alanine elevated; histidine elevated metabolic 3335634 3571488
ACADS 201470 Arrhythmia tachycardia cardiovascular 3571488
ACADS 201470 Biliary-tract-diseases gastrointestinal #3571488
ACADS 201470 Blepharoptosis ptosis ophthalmologic 3335634 3571488 9932958
ACADS 201470 Blood-circulation-disorder pale extremities; mottled extremities cardiovascular 3571488
ACADS 201470 Blood-platelet-disorders hematologic #3571488
ACADS 201470 Body-temperature-changes miscellaneous #9578969 #14595061
ACADS 201470 Bone-diseases musculoskeletal #9932958 #11524729
ACADS 201470 Brain-diseases neurologic #3571488 #7776094 #9578969 #11134486 #15534767
ACADS 201470 Brain-edema cerebral edema neurologic 3571488
ACADS 201470 Cardiomyopathy bilateral; hypertrophic; ventricular dysfunction; left ventricle cardiovascular 9932958
ACADS 201470 Cardiovascular-diseases cardiovascular #3571488 #9932958
ACADS 201470 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 2808706 3335634 12061367 15534767
ACADS 201470 Cataract ophthalmologic 9932958
ACADS 201470 Central-nervous-system-diseases neurologic #3571488 #7776094 #9578969 #11134486 #15534767
ACADS 201470 Cerebral-atrophy CT findings; atrophy; ventricular dilatation; wide extracerebral space neurologic 9578969 15534767
ACADS 201470 Cholestasis intracanalicular cholestasis gastrointestinal 3571488
ACADS 201470 Consciousness-disorders low level of consciousness; consciousness decreased neurologic 9499414 9578969
ACADS 201470 Craniofacial-abnormalities musculoskeletal #3335634 #3571488
ACADS 201470 Creatine-kinase-abnormal elevated; raised miscellaneous 15534767
ACADS 201470 Developmental-delay psychomotor retardation; speech development delayed; failure to aquire motor skills neurologic 2808706 3335634 7776094 11134486 11524729 14595061 15534767
ACADS 201470 Dicarboxylic-aciduria mild; elevation of dicarboxylic acids; urine sample metabolic 3335634 3571488 9578969
ACADS 201470 Digestive-system-diseases gastrointestinal #3335634 #3571488 #7776094 #9499414 #9578969 #11524729 #12061367 #12872838 #14595061
ACADS 201470 Dysmorphism-and-abnormalities dysmorphic features miscellaneous 11134486
ACADS 201470 Electroencephalogram-abnormal multifocal seizures; poor background activity neurologic 3571488
ACADS 201470 Electromyography-abnormal Electromyogram abnormal; severe loss of compound motor action potential neurologic 15534767
ACADS 201470 Ethylmalonic-aciduria ethylmalonic acids elevated; ethylmalonate elevated metabolic 2808706 3571488 7776094 9499414 9578969 9932958 11134486 12061367 12872838 14595061 15534767
ACADS 201470 Eye-diseases ophthalmologic #3335634 #3571488 #7776094 #9932958 #15534767
ACADS 201470 Failure-to-thrive miscellaneous 3335634 7776094 9499414
ACADS 201470 Fatty-acids-abnormal serum; free fatty acids elevated metabolic 12061367
ACADS 201470 Fatty-liver fatty changes; microvesicular fat gastrointestinal 3571488
ACADS 201470 Feeding-difficulties poor feeding; fed poorly gastrointestinal 3335634 3571488 7776094 9499414 9578969 11524729
ACADS 201470 Female-genital-diseases genitourinary #14595061
ACADS 201470 Fever febrile illness miscellaneous 9578969 14595061
ACADS 201470 Gastroenteritis gastrointestinal 12061367
ACADS 201470 Gastrointestinal-diseases gastrointestinal #12061367
ACADS 201470 Genitourinary-diseases genitourinary #3571488 #14595061
ACADS 201470 Glucose-metabolism-disorders metabolic #3571488 #11134486 #12061367
ACADS 201470 Growth-disorders miscellaneous #3335634 #7776094 #9499414
ACADS 201470 Heart-diseases cardiovascular #3571488 #9932958
ACADS 201470 Hematologic-diseases hematologic #3571488
ACADS 201470 Hemoglobin-levels-abnormal hemoglobin deficiency hematologic 3571488
ACADS 201470 Hepatomegaly hepatosplenomegaly gastrointestinal 3571488 14595061
ACADS 201470 Hyperbilirubinemia elevated conjugated serum bilirubin; jaundice metabolic 14595061
ACADS 201470 Hyperkalemia potassium elevated metabolic 3571488
ACADS 201470 Hypernatremia metabolic 3571488
ACADS 201470 Hyperreflexia neurologic 7776094
ACADS 201470 Hyperventilation hyperpnea respiratory 3571488
ACADS 201470 Hypoglycemia blood sugar decreased; plasma glucagon elevated; hypoglycaemia metabolic 3571488 11134486 12061367
ACADS 201470 Hyporeflexia deep tendon reflexes absent neurologic 9932958 15534767
ACADS 201470 Immune-system-diseases immunologic #3571488 #9578969 #9932958 #12061367 #15534767
ACADS 201470 Infections respiratory tract infections; viral infections; bronchiolitis; urinary tract infections; tonsilitis immunologic 3571488 9578969 9932958 12061367 15534767
ACADS 201470 Joint-diseases musculoskeletal #9932958
ACADS 201470 Joint-limitations joint limitations; joint contractures; progressive musculoskeletal 9932958
ACADS 201470 Kidney-diseases genitourinary #3571488
ACADS 201470 Lens-diseases ophthalmologic #9932958
ACADS 201470 Lethargy lethargic; listlessness; weak; tired neurologic 3571488 7776094 12061367
ACADS 201470 Leukocyte-disorders hematologic #3571488
ACADS 201470 Leukocytosis leukocyte count elevated hematologic 3571488
ACADS 201470 Liver-diseases hepatocellular necrosis gastrointestinal 3571488 #14595061
ACADS 201470 Liver-enzymes-abnormal AST elevated gastrointestinal 14595061
ACADS 201470 Lung-diseases respiratory #3571488 #9499414 #9578969
ACADS 201470 Metabolic-diseases metabolic #2808706 #3335634 #3571488 #7776094 #9499414 #9578969 #9932958 #11134486 #11524729 #12061367 #12872838 #14595061 #15534767
ACADS 201470 Microcephaly musculoskeletal 3335634 3571488
ACADS 201470 Mitochondria-abnormal decreased numbers; multicores; minicores; increased numbers of subsarcolemmal mitochondria miscellaneous 9932958 15534767
ACADS 201470 Muscle-hypertonia hypertonic neurologic 3571488 7776094
ACADS 201470 Muscle-hypotonia hypotonic; axial hypotonia neurologic 3335634 7776094 9578969 9932958 11134486 14595061 15534767
ACADS 201470 Muscle-weakness proximal; progressive; severe weakness neurologic 2808706 3335634 7776094 15534767
ACADS 201470 Muscular-atrophy muscle wasting; type 1 fiber predominance; type 1 fibre atrophy; type 2 fibre atrophy; neurogenic atrophy; denervation atrophy neurologic 9932958 11524729 15534767
ACADS 201470 Muscular-diseases myopathy; lipid storage; adult form; multicore myopathy; axial myopathy; intrafiber lipid deposits; variation in muscle fibre size; hypertrophic fibres; atrophic fibers musculoskeletal 3335634 9932958 15534767
ACADS 201470 Musculoskeletal-diseases musculoskeletal #3335634 #3571488 #9932958 #11524729 #15534767
ACADS 201470 Nervous-system-diseases neurologic #2808706 #3335634 #3571488 #7776094 #9499414 #9578969 #9932958 #11134486 #11524729 #12061367 #14595061 #15534767
ACADS 201470 Neurobehavioral-manifestations neurologic #3571488 #7776094 #9499414 #9578969 #12061367 #14595061
ACADS 201470 Neurologic-manifestations neurologic #2808706 #3335634 #3571488 #7776094 #9499414 #9578969 #9932958 #11134486 #11524729 #12061367 #14595061 #15534767
ACADS 201470 Neuromuscular-manifestations neurologic #2808706 #3335634 #3571488 #7776094 #9578969 #9932958 #11134486 #11524729 #14595061 #15534767
ACADS 201470 Ocular-motility-disorders ophthalmologic #7776094 #9932958 #15534767
ACADS 201470 Ophthalmoplegia ophthalmoparesis ophthalmologic 9932958
ACADS 201470 Optic-nerve-diseases bilateral optic atrophy; optic atrophy ophthalmologic 15534767
ACADS 201470 Organic-acids-abnormal ethylmalonic aciduria; methylsuccinic aciduria; citric acid decreased; ketonuria metabolic 2808706 #3335634 3571488 7776094 #9499414 #9578969 9932958 11134486 11524729 12061367 12872838 14595061 15534767
ACADS 201470 Pathologic-nystagmus rotatory nystagmus; vertical nystagmus; horizontal nystagmus ophthalmologic 7776094 15534767
ACADS 201470 Peripheral-nervous-system-diseases neurologic #15534767
ACADS 201470 Pneumonia bronchopneumonia respiratory 3571488 9499414 9578969
ACADS 201470 Polyneuropathies chronic; active; axonal sensory motor polyneuropathy; fibrillations; axonal neuropathy; collagen deposition neurologic 15534767
ACADS 201470 Pregnancy-complications hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome genitourinary 14595061
ACADS 201470 Psychomotor-agitation jittery; hyperactivity; very active behavior neurologic 7776094 14595061
ACADS 201470 Reflexes-abnormal neurologic #7776094 #9932958 #15534767
ACADS 201470 Respiration-disorders respiratory distress respiratory 3571488 11134486 14595061
ACADS 201470 Respiratory-tract-diseases respiratory #3571488 #9499414 #9578969 #11134486 #14595061
ACADS 201470 Seizures seizures; convulsions; multifocal seizures neurologic 3571488 7776094 11134486
ACADS 201470 Spinal-diseases scoliosis; lumbar lordosis musculoskeletal 9932958 11524729
ACADS 201470 Splenomegaly enlarged spleen; hepatosplenomegaly miscellaneous 14595061
ACADS 201470 Thrombocytosis platelets elevated hematologic 3571488
ACADS 201470 Tiglylglycinuria tiglylglycine levels elevated metabolic 11134486
ACADS 201470 Uremia blood urea nitrogen elevated genitourinary 3571488
ACADS 201470 Urologic-diseases genitourinary #3571488
ACADS 201470 Vomiting nausea; vomit; gastroesophageal reflux; vomiting attacks; chronic recurrent vomiting gastrointestinal 3335634 3571488 9499414 9578969 12872838
ACADS 201470 Water-electrolyte-imbalance metabolic #3571488

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