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]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADSB 610006 Musculoskeletal-diseases musculoskeletal #16317551
ACADSB 610006 Craniofacial-abnormalities musculoskeletal #16317551
ACADSB 610006 Microcephaly musculoskeletal 16317551
ACADSB 610006 Digestive-system-diseases gastrointestinal #11013134 #16317551
ACADSB 610006 Feeding-difficulties gastrointestinal 11013134 16317551
ACADSB 610006 Respiratory-tract-diseases respiratory #10832746 #12837870 #16317551
ACADSB 610006 Lung-diseases respiratory #12837870
ACADSB 610006 Pneumonia respiratory 12837870
ACADSB 610006 Respiration-disorders apnea; apnea episodes; respiratory distress respiratory 10832746 12837870 16317551
ACADSB 610006 Nervous-system-diseases neurologic #10832746 #11013134 #12837870 #15615815 #16317551
ACADSB 610006 Central-nervous-system-diseases neurologic #10832746 #16317551
ACADSB 610006 Brain-diseases neurologic #10832746 #16317551
ACADSB 610006 Seizures epilepsy; seizures; spasms neurologic 16317551
ACADSB 610006 Electroencephalogram-abnormal infantile spasms; epileptiform activity neurologic 10832746 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 Neurologic-manifestations neurologic #10832746 #11013134 #12837870 #16317551
ACADSB 610006 Neurobehavioral-manifestations neurologic #10832746 #16317551
ACADSB 610006 Developmental-delay psychomotor retardation; cerebral palsy; global delay neurologic 10832746 11013134 15615815 16317551
ACADSB 610006 Lethargy neurologic 10832746 16317551
ACADSB 610006 Neuromuscular-manifestations neurologic #10832746 #11013134 #12837870 #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 Eye-diseases ophthalmologic #10832746 #11013134 #16317551
ACADSB 610006 Ocular-motility-disorders ophthalmologic #11013134 #16317551
ACADSB 610006 Strabismus ophthalmologic 11013134 16317551
ACADSB 610006 Vision-disorders visual skills impaired ophthalmologic 10832746
ACADSB 610006 Genitourinary-diseases genitourinary #12837870
ACADSB 610006 Female-genital-diseases genitourinary #12837870
ACADSB 610006 Pregnancy-complications hypertension; iron deficiency; low platelet counts genitourinary 12837870
ACADSB 610006 Cardiovascular-diseases cardiovascular #10832746
ACADSB 610006 Heart-diseases cardiovascular #10832746
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 Metabolic-diseases metabolic #10832746 #11013134 #12837870 #15615815 #16317551
ACADSB 610006 Acid-base-imbalance metabolic #16317551
ACADSB 610006 Acidosis lactic acidosis metabolic 16317551
ACADSB 610006 Glucose-metabolism-disorders metabolic #10832746 #16317551
ACADSB 610006 Hypoglycemia metabolic 10832746 16317551
ACADSB 610006 Water-electrolyte-imbalance metabolic #10832746
ACADSB 610006 Dehydration metabolic 10832746
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 Carnitine-levels-abnormal decreased; mild metabolic 11013134 12837870
ACADSB 610006 Organic-acids-abnormal 2 metylbutyrylglycine elevated; 2 ethylhydracrylic aciduria; 2 methylbutyrylglycinuria metabolic 10832746 15615815 16317551
ACADSB 610006 Immune-system-diseases immunologic #16317551
ACADSB 610006 Infections recurrent infections; ear infections; sinusitis immunologic 16317551
ACADSB 610006 Body-temperature-changes miscellaneous #10832746 #11013134 #16317551
ACADSB 610006 Fever miscellaneous 11013134
ACADSB 610006 Hypothermia hypothermic miscellaneous 10832746 16317551

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