Mitochondria Phenome Knowledgebase

Gene Symbol ACADSB
Ensembl ID ENSG00000196177 Entrez 36
Gene Alias 2-MEBCAD; ACAD7; SBCAD Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position 10q26.13 Subcell PMIDs 7698750
OMIM Gene 600301 Protein Complex
Swissprot ID P45954 Swissprot Description "Acyl-CoA dehydrogenase, short/branched chain specific, mitochondrial precursor"
OMIM Disease 2 alpha methylbutyryl CoA dehydrogenase deficiency (SBCADD) [610006]

50 Gene-Feature associations for Gene ACADSB

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADSB 610006 Hypoglycemia metabolic 10832746 16317551
ACADSB 610006 Hypothermia hypothermic miscellaneous 10832746 16317551
ACADSB 610006 Immune-system-diseases immunologic #16317551
ACADSB 610006 Infections recurrent infections; ear infections; sinusitis immunologic 16317551
ACADSB 610006 Lethargy neurologic 10832746 16317551
ACADSB 610006 Lung-diseases respiratory #12837870
ACADSB 610006 Metabolic-diseases metabolic #10832746 #11013134 #12837870 #15615815 #16317551
ACADSB 610006 Microcephaly musculoskeletal 16317551
ACADSB 610006 Muscle-hypotonia floppy; hypotonic neurologic 10832746 11013134 12837870 16317551
ACADSB 610006 Muscle-weakness progressive muscle weakness neurologic 12837870
ACADSB 610006 Muscular-atrophy neurologic 11013134
ACADSB 610006 Musculoskeletal-diseases musculoskeletal #16317551
ACADSB 610006 Nervous-system-diseases neurologic #10832746 #11013134 #12837870 #15615815 #16317551
ACADSB 610006 Neurobehavioral-manifestations neurologic #10832746 #16317551
ACADSB 610006 Neurologic-manifestations neurologic #10832746 #11013134 #12837870 #16317551
ACADSB 610006 Neuromuscular-manifestations neurologic #10832746 #11013134 #12837870 #16317551
ACADSB 610006 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; cerebral hemispheres abnormal; parietal lobes abnormal; occipital lobes abnormal; lentiform nuclei abnormal; signs of hypoxia; delayed myelination of corpus callosum neurologic 10832746 16317551
ACADSB 610006 Ocular-motility-disorders ophthalmologic #11013134 #16317551
ACADSB 610006 Organic-acids-abnormal 2 metylbutyrylglycine elevated; 2 ethylhydracrylic aciduria; 2 methylbutyrylglycinuria metabolic 10832746 15615815 16317551
ACADSB 610006 Pneumonia respiratory 12837870
ACADSB 610006 Pregnancy-complications hypertension; iron deficiency; low platelet counts genitourinary 12837870
ACADSB 610006 Respiration-disorders apnea; apnea episodes; respiratory distress respiratory 10832746 12837870 16317551
ACADSB 610006 Respiratory-tract-diseases respiratory #10832746 #12837870 #16317551
ACADSB 610006 Seizures epilepsy; seizures; spasms neurologic 16317551
ACADSB 610006 Strabismus ophthalmologic 11013134 16317551
ACADSB 610006 Vision-disorders visual skills impaired ophthalmologic 10832746
ACADSB 610006 Water-electrolyte-imbalance metabolic #10832746
ACADSB 610006 Acid-base-imbalance metabolic #16317551
ACADSB 610006 Acidosis lactic acidosis metabolic 16317551
ACADSB 610006 Acylcarnitine-profile-abnormal elevated C5 acylcarnitine metabolic 10832746 12837870 15615815 16317551
ACADSB 610006 Acylglycine-profile-abnormal elevated 2 methylbutyrylglycine; elevated isobutyrylglycine; 2 methylbutyrylglycinuria metabolic 10832746 11013134 12837870 15615815 16317551
ACADSB 610006 Arrhythmia tachycardia cardiovascular 10832746
ACADSB 610006 Blood-circulation-disorder cool extremities; peripheral pulse abnormal; barely palpable peripheral pulse; probably dehydration related cardiovascular 10832746
ACADSB 610006 Body-temperature-changes miscellaneous #10832746 #11013134 #16317551
ACADSB 610006 Brain-diseases neurologic #10832746 #16317551
ACADSB 610006 Cardiovascular-diseases cardiovascular #10832746
ACADSB 610006 Carnitine-levels-abnormal decreased; mild metabolic 11013134 12837870
ACADSB 610006 Central-nervous-system-diseases neurologic #10832746 #16317551
ACADSB 610006 Craniofacial-abnormalities musculoskeletal #16317551
ACADSB 610006 Dehydration metabolic 10832746
ACADSB 610006 Developmental-delay psychomotor retardation; cerebral palsy; global delay neurologic 10832746 11013134 15615815 16317551
ACADSB 610006 Digestive-system-diseases gastrointestinal #11013134 #16317551
ACADSB 610006 Electroencephalogram-abnormal infantile spasms; epileptiform activity neurologic 10832746 16317551
ACADSB 610006 Eye-diseases ophthalmologic #10832746 #11013134 #16317551
ACADSB 610006 Feeding-difficulties gastrointestinal 11013134 16317551
ACADSB 610006 Female-genital-diseases genitourinary #12837870
ACADSB 610006 Fever miscellaneous 11013134
ACADSB 610006 Genitourinary-diseases genitourinary #12837870
ACADSB 610006 Glucose-metabolism-disorders metabolic #10832746 #16317551
ACADSB 610006 Heart-diseases cardiovascular #10832746

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