Mitochondria Phenome Knowledgebase

Gene Symbol ETFDH
Ensembl ID ENSG00000171503 Entrez 2110
Gene Alias ETFQO; MADD Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 4q32-q35 Subcell PMIDs 8306995
OMIM Gene 231675 Protein Complex
Swissprot ID Q16134 Swissprot Description Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial precursor
OMIM Disease Multiple Acyl CoA dehydrogenase deficiency (MADD) [231680]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ETFDH 231680 Musculoskeletal-diseases musculoskeletal #12815589 #15669683
ETFDH 231680 Bone-diseases musculoskeletal #15669683
ETFDH 231680 Spinal-diseases scoliosis musculoskeletal 15669683
ETFDH 231680 Muscular-diseases proximal myopathy; lipid storage myopathy; intercostal muscles impaired musculoskeletal 12815589 15669683
ETFDH 231680 Craniofacial-abnormalities musculoskeletal #12815589
ETFDH 231680 Macrocephaly enlarged head musculoskeletal 12815589
ETFDH 231680 Digestive-system-diseases gastrointestinal #10356148 #12815589 #15662686 #15669683
ETFDH 231680 Biliary-tract-diseases gastrointestinal #12815589
ETFDH 231680 Cholestasis bile duct hypoplasia gastrointestinal 12815589
ETFDH 231680 Liver-diseases gastrointestinal #12815589 #15662686 #15669683
ETFDH 231680 Fatty-liver fatty degeneration; siderosis; steatosis gastrointestinal 12815589 15669683
ETFDH 231680 Hepatomegaly gastrointestinal 12815589 15662686 15669683
ETFDH 231680 Vomiting nausea gastrointestinal 10356148 12815589
ETFDH 231680 Respiratory-tract-diseases respiratory #10356148 #12815589 #15662686 #15669683
ETFDH 231680 Lung-diseases respiratory #12815589
ETFDH 231680 Pulmonary-hypoplasia respiratory 12815589
ETFDH 231680 Respiration-disorders respiratory #10356148 #12815589 #15662686 #15669683
ETFDH 231680 Hyperventilation tachypnea respiratory 15662686 15669683
ETFDH 231680 Respiratory-insufficiency respiratory distress; respiratory arrest; cyanosis; central apnea; hypoventilation; nonobstructive hypoventilation; apneic respiratory 10356148 12815589 15669683
ETFDH 231680 Nervous-system-diseases neurologic #10356148 #12815589 #15662686 #15669683
ETFDH 231680 Central-nervous-system-diseases neurologic #10356148 #12815589 #15669683
ETFDH 231680 Brain-diseases neurologic #10356148 #12815589 #15669683
ETFDH 231680 Seizures episodic seizures neurologic 12815589
ETFDH 231680 Headache-disorders morning headaches; headache neurologic 10356148 15669683
ETFDH 231680 Cortical-dysplasia pachygyria cerebral; cortex abnormal; cortical plate abnormal; neuronal migration abnormal neurologic 12815589
ETFDH 231680 Neurologic-manifestations neurologic #10356148 #12815589 #15662686 #15669683
ETFDH 231680 Neurobehavioral-manifestations neurologic #12815589 #15669683
ETFDH 231680 Developmental-delay motor development neurologic 15669683
ETFDH 231680 Lethargy episodes; recurrent neurologic 12815589 15669683
ETFDH 231680 Neuromuscular-manifestations neurologic #10356148 #12815589 #15662686 #15669683
ETFDH 231680 Muscle-hypotonia muscular hypotonia neurologic 10356148 12815589 15662686 15669683
ETFDH 231680 Muscle-weakness respiratory muscles; infection triggered neurologic 10356148 12815589 15662686 15669683
ETFDH 231680 Muscular-atrophy muscle hypotrophy; limb girdle like neurologic 15662686
ETFDH 231680 Electromyography-abnormal myopathic; chronic; fiber loss neurologic 15669683
ETFDH 231680 Genitourinary-diseases genitourinary #7912128 #12359134 #12815589
ETFDH 231680 Urologic-diseases genitourinary #7912128 #12359134 #12815589
ETFDH 231680 Kidney-diseases genitourinary #7912128 #12359134 #12815589
ETFDH 231680 Cystic-kidney-diseases polycystic kidneys; renal cortical cysts; renal cystic dysplasia; enlarged kidneys; hyperechoic kidneys genitourinary 7912128 12359134 12815589
ETFDH 231680 Renal-fatty-infiltration renal tubular epithelium genitourinary 12359134
ETFDH 231680 Cardiovascular-diseases cardiovascular #10356148 #12815589
ETFDH 231680 Heart-diseases cardiovascular #12815589
ETFDH 231680 Cardiomyopathy myocardium steatosis cardiovascular 12815589
ETFDH 231680 Cardiorespiratory-arrest respiratory arrest; cardiac arrest cardiovascular 10356148 12815589
ETFDH 231680 Metabolic-diseases metabolic #7912128 #10356148 #12359134 #12815589 #15662686 #15669683
ETFDH 231680 Acid-base-imbalance metabolic #7912128 #10356148 #12815589 #15662686 #15669683
ETFDH 231680 Acidosis lactic acidosis metabolic 7912128 10356148 12815589 15662686 15669683
ETFDH 231680 Glucose-metabolism-disorders metabolic #7912128 #10356148 #12359134 #12815589 #15662686
ETFDH 231680 Hypoglycemia episodes; hypoketotic hypoglycemia metabolic 7912128 10356148 12359134 12815589 15662686
ETFDH 231680 Aminoaciduria generalized; glutaricaciduria metabolic 12815589
ETFDH 231680 Acylcarnitine-profile-abnormal elevated C4 acylcarnitine; elevated C5 acylcarnitine; elevated C6 acylcarntine; elevated C12 acylcarnitine metabolic 10356148 15669683
ETFDH 231680 Acylglycine-profile-abnormal acylglycinuria; isovalerylglycinuria metabolic 7912128
ETFDH 231680 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine; secondary carnitine deficiency metabolic 10356148 15669683
ETFDH 231680 Fatty-acids-abnormal myristate oxidation abnormal; palmitate oxidation abnormal; fibroblasts; high free fatty acids metabolic 10356148 12815589
ETFDH 231680 Organic-acids-abnormal ethylmalonic aciduria; glutaric aciduria; butyric aciduria; methylbutyric aciduria; isobutyric aciduria; isovaleric aciduria; propionic aciduria; dicarboxylic aciduria; 2 hydroxyglutaric aciduria; 3 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 5 hydroxyhexanoic aciduria metabolic 10356148 #12359134 12815589 15662686 15669683
ETFDH 231680 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 10356148 15669683
ETFDH 231680 Ethylmalonic-aciduria ethylmalonic acid elevated; ethylmalonate elevated metabolic 12815589 15662686 15669683
ETFDH 231680 Glutaric-aciduria glutaric acid elevated; glutaric acidemia metabolic 10356148 12359134 12815589 15662686 15669683
ETFDH 231680 Body-temperature-changes miscellaneous #12815589
ETFDH 231680 Fever fever triggered; disease onset miscellaneous 12815589
ETFDH 231680 Dysmorphism-and-abnormalities facial dysmorphism; flat nasal bridge; large anterior fontanel; malformed ears; telecanthus; high forehead; prominent forehead; potter face miscellaneous 12815589
ETFDH 231680 Odors sweaty feet; stale breath miscellaneous 12815589
ETFDH 231680 Creatine-kinase-abnormal miscellaneous 15669683
ETFDH 231680 Vitamin-responsive riboflavin; vitamin B2; response variable miscellaneous 3930843 10356148 15669683

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